Disease #00459 (CCM (cerebral cavernous malformations (CCM)))

Official abbreviation	CCM
Name	cerebral cavernous malformations (CCM)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	148
Phenotype entries for this disease	148
Associated with 1 gene	PDCD10
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-07-18 15:09:38 +02:00 (CEST)
Date last edited	2018-02-20 09:44:39 +01:00 (CET)

Individuals

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.

148 entries on 2 pages. Showing entries 1 - 100.

	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	Genes screened	Variants in genes	Variants	Panel size	Owner
00017926	-	PubMed: Mondejar 2014	-	M	no	Spain	white	-	-	-	-	CCM	multiple cavernous malformations on MRI	KRIT1	KRIT1	1	2	Rufino Mondejar
00153309	-	-	-	M	-	Taiwan	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Kang-Yang Jih
00153310	-	-	-	F	-	Taiwan	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Kang-Yang Jih
00153311	-	-	-	M	?	Taiwan	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Kang-Yang Jih
00153312	-	-	-	M	?	Taiwan	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Kang-Yang Jih
00164072	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164073	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164074	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164075	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164076	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164077	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164078	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164079	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164080	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164081	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164082	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164083	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164084	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164085	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164086	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164087	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164088	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00164089	-	-	-	-	-	Belgium	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Antonella Mendola
00165043	-	-	-	-	yes	Italy	-	-	-	-	-	CCM	-	CCM2	CCM2	1	1	Carmela Fusco
00165058	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165059	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165061	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165062	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165063	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165064	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165065	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165066	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165067	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165068	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165069	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165070	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165071	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165072	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165073	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165074	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165075	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165076	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165077	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165078	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	CCM2	CCM2	1	1	Carmela Fusco
00165079	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	CCM2	CCM2	1	1	Carmela Fusco
00165080	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	CCM2	CCM2	1	1	Carmela Fusco
00165081	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	PDCD10	PDCD10	1	1	Carmela Fusco
00165082	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	PDCD10	PDCD10	1	1	Carmela Fusco
00165083	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	PDCD10	PDCD10	1	1	Carmela Fusco
00165085	?	-	-	-	-	Italy	-	-	-	-	-	CCM	-	PDCD10	PDCD10	1	1	Carmela Fusco
00165700	?	PubMed: Nardella 2018	family, 1 affected	-	-	Italy	white	-	-	-	-	CCM	Headache (HP:0002076), Sovratentorial hemangiomas, Behavioural psychiatric abnormalities (HP:0000708)	PDCD10	PDCD10	1	1	Carmela Fusco
00363501	178672	-	-	F	?	Germany	-	-	-	-	-	CCM	Multiple intracerebral cavernomas, conspicuous family history: Cavernomas also in a son, as well as brother and father.	KRIT1	KRIT1	1	1	Andreas Laner
00401280	family	PubMed: Riant 2014	3-generation family, 3 affected 2F, 2M)	F;M	-	France	-	-	-	-	-	CCM	see paper; ...	KRIT1	KRIT1	1	1	Johan den Dunnen
00411198	-	-	patient had both DMD and CCM	M	no	China	Asian	-	-	-	-	CCM, DMD	abnormal cerebral vascular morphology (HP:0100659), no seizures (-HP:0001250), no paralysis (-HP:0003470), no headache (-HP:0002315), Gowers sign (HP:0003391), generalized hypotoniav (HP:0001290), calf muscle pseudohypertrophy (HP:0003707), waddling gait (HP:0002515), elevated circulating creatine kinase concentration (HP:0003236)	-	DMD, PDCD10	2	1	Detong Guo
00418997	-	PubMed: Nardella 2018	3-generation family, affected grandmother/father/daughter(2F, M)	F;M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	3	Johan den Dunnen
00418998	-	PubMed: Nardella 2018	2-generation family, affected father/2 sons (3M)	M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	3	Johan den Dunnen
00418999	-	PubMed: Nardella 2018	2-generation family, affected father/daughter (F, M)	F;M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	2	Johan den Dunnen
00419000	-	PubMed: Nardella 2018	2-generation family, affected father/son/daughter (F, 2M)	F;M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	3	Johan den Dunnen
00419001	-	PubMed: Nardella 2018	2-generation family, affected father/twin son and daughter (F, 2M)	F;M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	3	Johan den Dunnen
00419002	-	PubMed: Nardella 2018	2-generation family, affected father/daughter/son (F, 2M)	F;M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	3	Johan den Dunnen
00419003	-	PubMed: Nardella 2018	2-generation family, affected father/daughter (F, M)	F;M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	2	Johan den Dunnen
00419004	FamIPatIII6	PubMed: Nardella 2018	2-generation family, 2 affected (2F)	F	-	Italy	-	-	-	-	-	CCM	intracranial hemorrhage; fatigable weakness skeletal muscles (HP:0030197); cerebellar hemangiomas; bilateral lesions	KRIT1	KRIT1	1	2	Johan den Dunnen
00419005	FamIPatIV1	PubMed: Nardella 2018	relative	F	-	Italy	-	-	-	-	-	CCM	intracranial hemorrhage; cerebellar hemangiomas; bilateral lesions	KRIT1	KRIT1	1	1	Johan den Dunnen
00419006	-	PubMed: Nardella 2018	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419007	-	PubMed: Nardella 2018	2-generation family, affected father/son (2M)	M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	2	Johan den Dunnen
00419008	-	PubMed: Nardella 2018	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	2	Johan den Dunnen
00419009	-	PubMed: Nardella 2018	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419010	FamIIPatI2	PubMed: Nardella 2018	3-generation family, affected grandmother/mother/daughter	F	-	Italy	-	-	-	-	-	CCM	cerebellar hemangiomas	KRIT1	KRIT1	1	3	Johan den Dunnen
00419011	FamIIPatII2	PubMed: Nardella 2018	mother	F	-	Italy	-	-	-	-	-	CCM	headache/migraine (HP:0002076); intracranial hemorrhage; sovratentorial hemangiomas; cerebellar hemangiomas	KRIT1	KRIT1	1	1	Johan den Dunnen
00419012	FamIIPatIII1	PubMed: Nardella 2018	granddaughter	F	-	Italy	-	-	-	-	-	CCM	epilepsy (HP:0001250); intracranial hemorrhage; dementia (HP:0000726); cerebellar hemangiomas	KRIT1	KRIT1	1	1	Johan den Dunnen
00419013	sporadic	PubMed: Nardella 2018	4-generation family, affected mother/daughter (2F)	M	-	Italy	-	-	-	-	-	CCM	cerebellar hemangiomas	KRIT1	KRIT1	1	2	Johan den Dunnen
00419014	-	PubMed: Nardella 2018	family, 1 affected	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419015	-	PubMed: Nardella 2018	family, 1 affected	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419016	-	PubMed: Nardella 2018	family, 1 affected	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419017	-	PubMed: Nardella 2018	2-generation family, affected father/son (2M)	M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	2	Johan den Dunnen
00419018	-	PubMed: Nardella 2018	family, 1 affected	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419019	-	PubMed: Nardella 2018	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419020	-	PubMed: Nardella 2018	-	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419021	-	PubMed: Nardella 2018	2-generation family, affected father/daughter (F, M)	F;M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	2	Johan den Dunnen
00419022	-	PubMed: Nardella 2018	family, 1 affected	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419023	sporadic	PubMed: Nardella 2018	2-generation family, affected father/son (2M)	M	-	Italy	-	-	-	-	-	CCM	epilepsy (HP:0001250); cerebellar hemangiomas (MRI 6 lesions)	KRIT1	KRIT1	1	2	Johan den Dunnen
00419024	-	PubMed: Nardella 2018	2-generation family, affected mother/daughter (2F)	F	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	2	Johan den Dunnen
00419025	FamIII	PubMed: Nardella 2018	2-generation family, affected mother/son/daughter (2F, M)	F	-	Italy	-	-	-	-	-	CCM	sovratentorial hemangiomas; cerebellar hemangiomas	KRIT1	KRIT1	1	3	Johan den Dunnen
00419026	FamIVPatI2	PubMed: Nardella 2018	3-generation family, 6 affected (5F, M)	F	-	Italy	-	-	-	-	-	CCM	headache/migraine (HP:0002076)	KRIT1	KRIT1	1	6	Johan den Dunnen
00419027	FamIVPatII4	PubMed: Nardella 2018	relative	M	-	Italy	-	-	-	-	-	CCM	headache/migraine (HP:0002076); sovratentorial hemangiomas	KRIT1	KRIT1	1	1	Johan den Dunnen
00419028	FamIVPatII5	PubMed: Nardella 2018	relative	F	-	Italy	-	-	-	-	-	CCM	headache/migraine (HP:0002076); epilepsy (HP:0001250); behavioral abnormalities (HP:0000708); sovratentorial hemangiomas; cerebellar hemangiomas; bilateral lesions	KRIT1	KRIT1	1	1	Johan den Dunnen
00419029	FamIVPatII7	PubMed: Nardella 2018	relative	F	-	Italy	-	-	-	-	-	CCM	sovratentorial hemangiomas (MRI 2 lesions)	KRIT1	KRIT1	1	1	Johan den Dunnen
00419030	FamIVPatIII2	PubMed: Nardella 2018	relative	F	-	Italy	-	-	-	-	-	CCM	intracranial hemorrhage; fatigable weakness skeletal muscles (HP:0030197); hemiparesis (HP:0001269); cerebellar hemangiomas (MRI 2 lesions)	KRIT1	KRIT1	1	1	Johan den Dunnen
00419031	FamIVPatIII3	PubMed: Nardella 2018	relative	F	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419032	sporadic	PubMed: Nardella 2018	patient	M	-	Italy	-	-	-	-	-	CCM	epilepsy (HP:0001250); cerebellar hemangiomas	KRIT1	KRIT1	1	1	Johan den Dunnen
00419033	sporadic	PubMed: Nardella 2018	patient	F	-	Italy	-	-	-	-	-	CCM	cerebellar hemangiomas	KRIT1	KRIT1	1	1	Johan den Dunnen
00419034	sporadic	PubMed: Nardella 2018	patient	F	-	Italy	-	-	-	-	-	CCM	epilepsy (HP:0001250); bilateral lesions	KRIT1	KRIT1	1	1	Johan den Dunnen
00419035	-	PubMed: Nardella 2018	son	M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419036	-	PubMed: Nardella 2018	2-generation family, affected father/daughter (F, M)	F;M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	2	Johan den Dunnen
00419037	-	PubMed: Nardella 2018	3-generation family, affected mother/daughter (2F)	F	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	2	Johan den Dunnen
00419038	-	PubMed: Nardella 2018	family, 1 affected	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	1	Johan den Dunnen
00419039	-	PubMed: Nardella 2018	2-generation family, affected father/daughter (F, M)	F;M	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	2	Johan den Dunnen
00419040	-	PubMed: Nardella 2018	3-generation family, 4 affected (F, 2M)	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	4	Johan den Dunnen
00419041	-	PubMed: Nardella 2018	2-generation family, affected father/2 daughters (2F, M)	-	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	3	Johan den Dunnen
00419042	-	PubMed: Nardella 2018	2-generation family, affected mother/daughter (2F)	F	-	Italy	-	-	-	-	-	CCM	-	KRIT1	KRIT1	1	2	Johan den Dunnen

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Global Variome shared LOVD

MTOR (mechanistic target of rapamycin (serine/thre...))