Global Variome shared LOVD
KCNJ2 (potassium inwardly-rectifying channel, subfa...)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Global Variome, with Curator vacancy
View all genes
View KCNJ2 gene homepage
View graphs about the KCNJ2 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene KCNJ2
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene KCNJ2
View all variants in gene KCNJ2
Full data view for gene KCNJ2
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene KCNJ2
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene KCNJ2
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene KCNJ2
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All individuals with variants in gene KCNJ2
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
129 entries on 2 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00028978
-
PubMed: Allegue 2015
,
Journal: Allegue 2015
-
M
-
United States
white
>66y
-
-
-
BRGDA
-
1
1
Anna Iglesias
00128437
186
PubMed: Sahlin 2019
,
Journal: Sahlin 2019
stillbirth cohort (290 cases from Sweden)
M
-
Sweden
-
-
-
-
-
?
-
1
1
Ellika Sahlin
00206609
-
PubMed: Kuramoto 2012
cardiac abnormalities / dysmorphic features
F
?
Japan
-
>15y
-
-
-
Andersen syndrome
LQT, bilateral VT
1
1
Ikuko Takeda
00206610
-
PubMed: Bendahhou 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / the brother and the father are nonpenetrace / 2 mutation carrers
M
?
France
-
>19y
-
-
-
Andersen syndrome
small chin, prominent U waves and bigeminy, hypokalemia, symptoms disappeared 24h later. Decreasement of the amplitude of th CMAP following long execise test.
1
1
Ikuko Takeda
00206611
-
PubMed: Andelfinger 2002
cardiac abnormalities / 9 is non-penetrance
F
?
United States
white
>13y
-
-
-
Andersen syndrome
Valvular pulmonary stenosis, cardiac arrest, polymorphiventricular tachycardia
1
41
Ikuko Takeda
00206612
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / KJ-01
F
?
Japan
Japanese
>30y
-
-
-
Andersen syndrome
PVC, bigeminy, bidirectional VT, prolonged Quc
1
3
Ikuko Takeda
00206613
-
PubMed: Donaldson 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7908
M
?
United States
-
-
-
-
-
Andersen syndrome
hypokalemic, bigeminy, polymorphic and bidirectional VT, Micrognathia, slight scoliosis, broad-base nose, low-set ears
1
1
Ikuko Takeda
00206614
-
PubMed: Donaldson 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred8636
M
?
United States
-
-
-
-
-
Andersen syndrome
bigeminy, polymorphic VT, low-set ears, retrognathia. muscle biopsy: tubular aggregates.
1
1
Ikuko Takeda
00206615
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>25y
-
-
-
Andersen syndrome
hypokalemia, LQT, painful paralysis. muscle biopsy: tubular aggregates.
1
1
Ikuko Takeda
00206616
-
PubMed: Davies 2005
periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>10y
-
-
-
Andersen syndrome
hypokalemia. muscle biopsy: myopathic.
1
4
Ikuko Takeda
00206617
-
PubMed: Kimura 2012
periodic paralysis
M
?
Japan
-
>24y
-
-
-
Andersen syndrome
-
1
1
Ikuko Takeda
00206618
-
PubMed: Eckhardt 2007
cardiac abnormalities
F
?
United States
white
-
-
-
-
Andersen syndrome
Asymptomatic/polymorphic PVCs, non-specific inferior and lateral T-wave changes
1
1
Ikuko Takeda
00206619
-
PubMed: Haruna 2007
cardiac abnormalities / dysmorphic features / Kindred 323
F
?
Japan
Japanese
>13y
-
-
-
Andersen syndrome
PVC, couplet, bidirectional VT
1
1
Ikuko Takeda
00206620
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>6y
-
-
-
Andersen syndrome
LQT, elevated CK,
1
2
Ikuko Takeda
00206621
-
PubMed: Donaldson 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7770
F
?
United States
-
-
-
-
-
Andersen syndrome
hypokalemic, low-set asymmetrical ears, micrognathia, broad-base nose, hypertelorism, syndactyly of second and third toes, short toes on right foot, LQT, bigeminy, polymorphic VT
1
1
Ikuko Takeda
00206622
-
PubMed: Marrus 2011
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
United States
-
>28y
-
-
-
Andersen syndrome
bilateral syndactyly of toes 2-3, premature ventricular complexes, bigeminy, prominent U waves
1
1
Ikuko Takeda
00206623
-
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 4415
F
?
United States
-
>11y
-
-
-
Andersen syndrome
LQT
1
10
Ikuko Takeda
00206624
-
PubMed: Ballester 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
United States
white
>10y
-
-
-
Andersen syndrome
complex ventricular ectopy
1
2
Ikuko Takeda
00206625
-
PubMed: Fodstad 2004
cardiac abnormalities / periodic paralysis
F
?
Finland
-
>20y
-
-
-
Andersen syndrome
primary hypothyroidism, ventricular ectopy, LQT, hypermobility of hip joint, U wave, normakalemia
1
7
Ikuko Takeda
00206626
-
PubMed: Yoon 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United States
white
>25y
-
-
-
Andersen syndrome
broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, PVC, VT
1
1
Ikuko Takeda
00206627
-
PubMed: Donaldson 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7300
F
?
United States
-
-
-
-
-
Andersen syndrome
Clinodactyly, micrognathia, low-set ears, hypertelorism, short stature, normokalemic, bigeminy, bidirectional VT, LQT. muscle biopsy: tubular aggregates.
1
1
Ikuko Takeda
00206628
-
PubMed: Lu 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United States
-
>15y
-
-
-
Andersen syndrome
clinodactyly, scoliosis, high arched palate, asymmetrically placed lower mandible, mild varus position, PVC, normokalemia, prominent U wave, non-sustained VT, RBBB
1
3
Ikuko Takeda
00206629
-
PubMed: Tani 2007
cardiac abnormalities
F
?
Japan
Japanese
>35y
-
-
-
Andersen syndrome
syncope, normokalemia, Short stature (1.4m), LQT, bidirectional VT
1
2
Ikuko Takeda
00206630
-
PubMed: Eckhardt 2007
cardiac abnormalities / periodic paralysis
F
?
United States
white
-
-
-
-
Andersen syndrome
sncope/PVCs, bigeminy
1
1
Ikuko Takeda
00206631
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
United Kingdom (Great Britain)
-
>19y
-
-
-
Andersen syndrome
ventricular
1
1
Ikuko Takeda
00206632
-
PubMed: Yoon 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United States
white
>38y
-
-
-
Andersen syndrome
broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, PVC, U wave. muscle biopsy: tubular aggregates.
1
2
Ikuko Takeda
00206633
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>17y
-
-
-
Andersen syndrome
painful paralysis, hypokalemia. muscle biopsy: vacuolar myopathy.
1
1
Ikuko Takeda
00206634
-
PubMed: Eckhardt 2007
cardiac abnormalities
F
?
United States
white
-
-
-
-
Andersen syndrome
Irregular heart rhythm and palpitations, prominent U wave, frequent premature ventricular beats, short runs of VT
1
1
Ikuko Takeda
00206635
-
PubMed: Tester 2006
cardiac abnormalities
F
?
United States
-
>14y
-
-
-
Andersen syndrome
Ventricular ectopy, asymptomatic, bidirectional ventricular tachycardia, polymorphic ventricular tachycardia
1
1
Ikuko Takeda
00206636
-
PubMed: Tester 2006
cardiac abnormalities
F
?
United States
-
>9y
-
-
-
Andersen syndrome
Ventricular ectopy
1
1
Ikuko Takeda
00206637
-
PubMed: Kimura 2012
cardiac abnormalities
F
?
Japan
-
>29y
-
-
-
Andersen syndrome
PVC, bidirectal VT,
1
1
Ikuko Takeda
00206638
-
PubMed: Kuramoto 2012
cardiac abnormalities / dysmorphic features / KCNH2 P1093L
M
?
Japan
-
>11y
-
-
-
Andersen syndrome
bidirectional VT
1
1
Ikuko Takeda
00206639
-
PubMed: Davies 2005
periodic paralysis / dysmorphic features / his mother was carrer / his brother has periodic paralysis
M
?
United Kingdom (Great Britain)
-
>15y
-
-
-
Andersen syndrome
hypokalemia
1
1
Ikuko Takeda
00206640
-
PubMed: Kimura 2012
cardiac abnormalities
F
?
Japan
-
>46y
-
-
-
Andersen syndrome
bidirectal VT, long QT
1
1
Ikuko Takeda
00206641
-
PubMed: Xia 2005
cardiac abnormalities
M
?
China
Chinese
>59y
-
-
-
ATFB9
paroxysmal atrial fibrillation
1
7
Ikuko Takeda
00206642
-
-
-
M
?
Japan
Asian
>63y
-
-
-
Andersen syndrome
Electrocardiogram showed enlarged U-waves, wide T–U junction, prolonged QUc interval; periodic paralysis, dysmorphological features comprised short stature, low-set ears, hypertelorism, small mandible, high arched palate, dental anomalies, broad nasal root, fifth-digit clinodactyly
1
1
Ikuko Takeda
00206643
-
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 3328
F
?
United States
-
>26y
-
-
-
Andersen syndrome
LQT, bigeminy, polymorphic VT, nonsustain VT, normokalemia, prolonged T wave, prominent U wave,
1
1
Ikuko Takeda
00206644
-
PubMed: Chun 2004
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United States
-
>16y
-
-
-
Andersen syndrome
bidirectional VT, ICD
1
1
Ikuko Takeda
00206645
-
PubMed: Zhang 2005
PubMed: Ballester 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
?
?
United States
-
-
-
-
-
Andersen syndrome
Prolong of T wave, prominent U wave, nonsustained VT, hypokalemia, micrognathia, hypertelorism
1
1
Ikuko Takeda
00206646
-
PubMed: Davies 2005
periodic paralysis / dysmorphic features / he was one of twins.
M
?
United Kingdom (Great Britain)
-
>18y
-
-
-
Andersen syndrome
CK elevated, muxcle weakness
1
1
Ikuko Takeda
00206647
-
PubMed: Plaster 2001
periodic paralysis / dysmorphic features / Kindred6634
F
?
United States
-
>45y
-
-
-
Andersen syndrome
LQT, Bigeminy
1
1
Ikuko Takeda
00206648
-
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred3856
F
?
United States
-
>23y
-
-
-
Andersen syndrome
LQT, Bidirectal VT,
1
1
Ikuko Takeda
00206649
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 024, his son had seizure, KCNQ1(A341V)
F
?
Japan
Japanese
>44y
-
-
-
Andersen syndrome
PVC, bidirectional VT, polymorphic VT, LQT, prolonged Quc
1
2
Ikuko Takeda
00206650
-
PubMed: Kimura 2012
cardiac abnormalities
F
?
Japan
-
>3y
-
-
-
Andersen syndrome
catecholaminergic polymorhpic VT
1
1
Ikuko Takeda
00206651
-
PubMed: Lim 2010
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
Korea
-
>18y
-
-
-
Andersen syndrome
ocular hypertelorism, low-set ear, small mandibled, clinodacytly of the fifth finger, normokalemia, bigeminy, nonsustained VT,
1
1
Ikuko Takeda
00206652
-
PubMed: Ballester 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
France
Hispanic
>9y
-
-
-
Andersen syndrome
scoliosis, ventricular arrhythmia, proximal muscle weakness, hyporeflexia,
1
2
Ikuko Takeda
00206653
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / Knidred 179
F
?
Japan
Japanese
>28y
-
-
-
Andersen syndrome
PVC, bigeminy, bidirectional VT, polymorphic VT
1
1
Ikuko Takeda
00206654
-
PubMed: Yoon 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United States
white
>29y
-
-
-
Andersen syndrome
broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, chin hypoplasia, bigeminy. muscle biopsy: normal.
1
3
Ikuko Takeda
00206655
-
PubMed: Donaldson 2003
dysmorphic features / Kindred8472
F
?
United States
-
-
-
-
-
Andersen syndrome
scoliosis, short stature, low-set ears, micrognathia
1
3
Ikuko Takeda
00206656
-
PubMed: Kim 2009
periodic paralysis / dysmorphic features
M
?
Korea
Korean
>18y
-
-
-
Andersen syndrome
low set ear, micrognathia, oligodontia, bilateral clinodactyly of the third and fourth fingers, hypokalemia, prominent U wave
1
1
Ikuko Takeda
00206657
-
PubMed: Sacconi 2009
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
France
-
>31y
-
-
-
Andersen syndrome
cleft palate, short stature, distinctive craniofacial dysmorphism, broad forehead, mild facial asymmetry, downslanting palpebral fissures, thin upper lip, long nose, dental anomalies, high arch palate, proximal weakness of lower limbs, hypokalemic, U wave
1
3
Ikuko Takeda
00206658
-
PubMed: Bendahhou 2005
periodic paralysis / dysmorphic features
M
?
France
-
>27y
-
-
-
Andersen syndrome
short stature( height 1.58 m), high broad, prominent forehead, bone malformation (including acnormal radial curbature of the fif digits and non-deviated short toes). hypokalemia, premature beat, Dcreasement of CMAP amplitude in following long exercise. Deltoid muscle biopsy was normal.
1
1
Ikuko Takeda
00206659
-
PubMed: Fodstad 2004
cardiac abnormalities
F
?
Finland
-
>40y
-
-
-
Andersen syndrome
bigeminal rhythm, LQT, U wave,
1
2
Ikuko Takeda
00206660
-
PubMed: Priori 2005
PubMed: El Harchi 2009
cardiac abnormalities
F
?
Italy
-
>5y
-
-
-
SQT3
short QT syndrome, narrow and peaked T waves
1
2
Ikuko Takeda
00206661
-
PubMed: Tristani 2002
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 7246
M
?
United States
-
>18y
-
-
-
Andersen syndrome
polymorpihc VT, normokalemia, hyperkalemia, hypertelorism, clinodactyly, prominent U wave, nosustained VT, RBBB
1
2
Ikuko Takeda
00206662
-
PubMed: Donaldson, 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7862
F
?
United States
-
-
-
-
-
Andersen syndrome
hypokalemic, bigeminy, PVC, prominent U wave, scoliosis, high-arched palate, micrognathia, broad-base nose, hypertelorism, low-set ears retrognathia
1
2
Ikuko Takeda
00206663
-
PubMed: Ai 2002
cardiac abnormalities / periodic paralysis
M
?
Japan
Japanese
>13y
-
-
-
Andersen syndrome
normokalemia, premature ventricular contractions, LQT, seizure. muscle biopsy: tubular aggregates.
1
4
Ikuko Takeda
00206664
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / Kindred 037
M
?
Japan
Japanese
>13y
-
-
-
Andersen syndrome
PVC, bigeminy, LQT, seizure,
1
2
Ikuko Takeda
00206665
-
PubMed: Nagase 2007
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
Japan
Japanese
>19y
-
-
-
Andersen syndrome
PVC, nonsustained ventricular tachycardia, palpitations, normokalemia, low-set ears, micrognathia, tapering fingers. endomyocardial biopsy: normal.
1
3
Ikuko Takeda
00206666
-
PubMed: Nagashima 2010
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
Japan
Japanese
>23y
-
-
-
Andersen syndrome
normokalemia, short stature, low-set ear, hypoplasitc mandible, hypertelosrism, clinodactyly of fifth fingers, submucous cleft palate, bifid uvula, RBBB, LQT, prominent U wave,bidirectional ventricular tachycardia, polymorphic ventricular tachycardia, ASD
1
1
Ikuko Takeda
00206667
-
PubMed: Chan 2010
periodic paralysis / dysmorphic features
F
?
Taiwan
Taiwanese
>35y
-
-
-
Andersen syndrome
short stature,broad forehead,ocular hypertelorism,small head size,low-set ears, mandibular hypoplasia, clinodactyly of the fifth fingers and toes, quadriparesis with proximal muscle group, hyperreflexia, Babinski's sign,hypokalemia,bigeminy,LQT,depression
1
3
Ikuko Takeda
00206668
-
PubMed: Hosaka 2003
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
Japan
Japanese
>34y
-
-
-
Andersen syndrome
cardiac arrest, ventricular fibrillation, short stature, scolliosis, broad forehead, low-set ears, mandibular micrognathia, clinodadtyly, hyperkalemia,LQT, long Quc interval, U wave, polymorphic ventricular tachycardia. muscle biopsy: tubular aggregates.
1
1
Ikuko Takeda
00206669
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / N-01
F
?
Japan
Japanese
34y
-
-
-
Andersen syndrome
PVC, bigeminy, polymorphic VT, VF, sudden death, ICD, prolonged Quc, high T&U wave
1
1
Ikuko Takeda
00206670
-
PubMed: Lim 2010
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
Korea
-
>11y
-
-
-
Andersen syndrome
hypertelorism, low-set ear, small mandible, normokalemia, dizziness
1
3
Ikuko Takeda
00206671
-
PubMed: Tristani 2002
cardiac abnormalities / Kindred 3442
F
?
United States
-
>21y
-
-
-
Andersen syndrome
LQT, bidirectional VT, cardiac arrest
1
6
Ikuko Takeda
00206672
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>32y
-
-
-
Andersen syndrome
normokalemia, supraventricular tachycardia
1
1
Ikuko Takeda
00206673
-
PubMed: Lange 2003
PubMed: Yoon 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United States
white
>12y
-
-
-
Andersen syndrome
broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, U-wave, VT, PVC
1
2
Ikuko Takeda
00206674
-
PubMed: Yoon 2006
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 2681
F
?
United States
white
>29y
-
-
-
Andersen syndrome
broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, LQT,U wave, PVC
1
1
Ikuko Takeda
00206675
-
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred6515
M
?
United States
-
>17y
-
-
-
Andersen syndrome
polymorphic VT, bigeminy
1
1
Ikuko Takeda
00206676
-
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 2401
F
?
United States
-
>35y
-
-
-
Andersen syndrome
Bigeminy, non-fatal cardiac arrest, torsades, first-degree A-V block, LQT
1
1
Ikuko Takeda
00206677
-
PubMed: Tristani 2002
cardiac abnormalities / Kindred2679
M
?
United States
-
>24y
-
-
-
Andersen syndrome
LQT, bigeminy, polymorphic VT
1
1
Ikuko Takeda
00206678
-
PubMed: Tristani 2002
cardiac abnormalities / Kindred7480
M
?
United States
-
>10y
-
-
-
Andersen syndrome
bigeminy,LQT
1
1
Ikuko Takeda
00206679
-
PubMed: Donaldson 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7527, father nonpenetrace
F
?
United States
-
-
-
-
-
Andersen syndrome
hypokalemic, bidirectional VT, polymorphic PVC, prominent U wave, micrognathia, scoliosis, clinodactyly. muscle biopsy: tubular aggregates.
1
2
Ikuko Takeda
00206680
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>15y
-
-
-
Andersen syndrome
ventricular, abnormal dentition, painful paralysis, mild ataxia. her brothers' muscle biopsies: myopathic, vacuolar myopathy.
1
4
Ikuko Takeda
00206681
-
PubMed: Davies 2005
periodic paralysis / dysmorphic features
M
?
United Kingdom (Great Britain)
-
>24y
-
-
-
Andersen syndrome
painful paralysis. muscle biopsy: myopathic.
1
3
Ikuko Takeda
00206682
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / Kindred 180
F
?
Japan
Japanese
>6y
-
-
-
Andersen syndrome
PVC, bigeminy, couplet, bidirectional VT, monomorphic VT, syncope, seizure, LQT, prominent U wave
1
3
Ikuko Takeda
00206683
-
PubMed: Haruna 2007
cardiac abnormalities / dysmorphic features / Kindred 240
F
?
Japan
Japanese
>11y
-
-
-
Andersen syndrome
bigeminy, couplet, bidirectional VT, monomorphic VT, prolonged Quc, prominent U wave
1
3
Ikuko Takeda
00206684
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 324
M
?
Japan
Japanese
>6y
-
-
-
Andersen syndrome
PVC, couplet, bidirectional VT, prominent U wave
1
1
Ikuko Takeda
00206685
-
PubMed: Weir 2011
periodic paralysis / dysmorphic features
F
?
United States
Scottish
>34y
-
-
-
Andersen syndrome
hypokalemia, short stature, small with short fifth fingers, bilateral clinodactyly, neurocardiogenic syncope
1
1
Ikuko Takeda
00206686
-
PubMed: Schoonderwoerd 2006
cardiac abnormalities / dysmorphic features
F
?
Netherlands
-
>18y
-
-
-
Andersen syndrome
cardiac arrest, PVC, ventricular fibrillation, facial asymmetry, clinodactyly of fifth finger, cutaneous syndactyly, RBBB, polymorphic VT, prominent U wave. myocardia biopsy: hypertrophic myocytes with large irregularly shaped hypochromic nuclei, focal interstitial fibrosis.
1
3
Ikuko Takeda
00206687
-
PubMed: Subbiah 2008
cardiac abnormalities / periodic paralysis
F
?
Canada
-
>27y
-
-
-
Andersen syndrome
ventricular ectopy, nonsustain VT, RBBB, prominent U wave, pregnancy
1
1
Ikuko Takeda
00206688
-
PubMed: Tengan 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
M
no
Brazil
-
>33y
-
-
-
Andersen syndrome
obesity, increased cervical perimeter, weakness of proximal limb muscle, micrognathia, retrognathia, clinodactyly of foruth and fifth fingers, short stateure, arched palate, thoracic scoliosis, normokalemia, LQT, sleepapnea,
1
2
Ikuko Takeda
00206689
-
PubMed: Yoon 2006
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred6562
M
?
United States
white
>24y
-
-
-
Andersen syndrome
broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, U wave, LQT,PVC. muscle biopsy: tubular aggregates.
1
1
Ikuko Takeda
00206690
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 176
F
?
Japan
Japanese
>13y
-
-
-
Andersen syndrome
bigeminy, couplet, bidirectional VT
1
2
Ikuko Takeda
00206691
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 201
F
?
Japan
Japanese
>12y
-
-
-
Andersen syndrome
bigeminy, couplet, bidirectional VT, prolonged Quc, prominent U wave
1
1
Ikuko Takeda
00206692
-
PubMed: Choi 2007
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
Korea
Korean
>19y
-
-
-
Andersen syndrome
hypertelorism, micrognathia, serum potassium mildly decreased, broad-based nose, low-set ears, premature ventricular contraction, ventricular tachycardia, mildly decreased, premature ventricular contractions, ventricular tachycardia, CMAP was decreased,
1
6
Ikuko Takeda
00206693
-
PubMed: Tester 2006
cardiac abnormalities
F
?
United States
-
>17y
-
-
-
Andersen syndrome
catecholaminergic polymorphic ventricular tachycardia,bidirectional VT,Syncope-exertion, palpitations, Nonsustained PVT, ventricular ectopy, Mild mitral regurgitation, mild thickening of mitral valve leaflets
1
1
Ikuko Takeda
00206694
-
PubMed: Kimura 2012
cardiac abnormalities
M
?
Japan
-
>24y
-
-
-
Andersen syndrome
PVC, VT
1
1
Ikuko Takeda
00206695
-
PubMed: Barajas 2011
cardiac abnormalities / dysmorphic features
F
?
United States
-
>10y
-
-
-
Andersen syndrome
normokalemia, micrognathia, retrognathia, hypertelorism, broad-based nose, clinodactyly of the third digit, syndactyly of toes, polymorphic ventricular tachycardia, bidirectional VT, LQT, long Quc,
1
1
Ikuko Takeda
00206696
-
PubMed: Deo 2013
cardiac abnormalities
M
?
Italy
-
>11y
-
-
-
SQT3
paroxysmal AF, mild left ventricular dysfunction, short QT syndrome
1
1
Ikuko Takeda
00206697
-
PubMed: Bendahhou 2005
cardiac abnormalities / periodic paralysis
F
?
France
-
>24y
-
-
-
Andersen syndrome
hip subluxaion, bigeminy, ventricular tachycardia
1
2
Ikuko Takeda
00206698
-
PubMed: Donaldson 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred8305
M
?
United States
-
-
-
-
-
Andersen syndrome
hypokalemic, bigeminy, shor stature, low-set ears, micrognathia
1
3
Ikuko Takeda
00206699
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>32y
-
-
-
Andersen syndrome
hypokalemia, mild learning difficulties, short stature, hypertelorism, low-set ears, hypoplastic mandible, clinodactyly, overriding toes, palatal deformity, LQT. muscle biopsy: myopathic.
1
5
Ikuko Takeda
00206700
-
PubMed: Yoon 2006
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 3387, three non-penetrace
M
?
United States
white
>21y
-
-
-
Andersen syndrome
broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, VT, PVC, LQT. muscle biopsy: tubular aggregates.
1
4
Ikuko Takeda
00206701
-
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / Kindred3677
F
?
United States
-
>34y
-
-
-
Andersen syndrome
LQT, polymorphic VT, bigeminy
1
1
Ikuko Takeda
00206702
-
PubMed: Haruna 2007
cardiac abnormalities / dysmorphic features / KJ-02
M
?
Japan
Japanese
>16y
-
-
-
Andersen syndrome
bigeminy, bidirectiona VT, syncope, prolonged Quc, high T&U amplitude
1
2
Ikuko Takeda
00206703
-
{PMIDKamiya 2012}
cardiac abnormalities / dysmorphic features
F
?
Japan
Japanese
>26y
-
-
-
Andersen syndrome
pregnancy, syncope, micrognathia, hand clinodactyly, polymorphic PVC, nonsustain VT,
1
2
Ikuko Takeda
00206704
-
PubMed: Hattori 2012
cardiac abnormalities
F
?
Japan
Japanese
>8y
-
-
-
SQT3
shortened QT interval, paroxysmal AF, VF inducibility, mental retardation, abnormal proliferation of oesophageal blood vessels, epilepsy, Kawasaki disease
1
1
Ikuko Takeda
00206705
-
PubMed: Ma 2007
PubMed: Tristani-Firouz 2002
cardiac abnormalities / Kindred 2682
M
?
United States
-
>48y
-
-
-
Andersen syndrome
RBBB, bigeminy
1
1
Ikuko Takeda
00206706
-
PubMed: Kuramoto 2012
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
Japan
Japanese
>7y
-
-
-
Andersen syndrome
PVC, bilateral VT
1
1
Ikuko Takeda
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators