Disease #02677 (CIEHK (ichthyosis, cyclic, with epidermolytic hyperkeratosis), OMIM:607602)

Official abbreviation	CIEHK
Name	ichthyosis, cyclic, with epidermolytic hyperkeratosis
OMIM ID	607602
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	51
Phenotype entries for this disease	51
Associated with 2 genes	KRT1, KRT10
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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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

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Operator	Column type	Example	Matches
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^	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'
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!=""	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
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>=	Numeric	>=23	all entries higher than, or equal to, 23
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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'

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51 entries on 1 page. Showing entries 1 - 51.

Legend

How to query

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
00055397	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055398	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055399	-	-	Family I027, 3 generations, 6 affected	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055400	-	-	Family I002	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055401	-	-	Family 3138	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055402	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055403	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055404	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055406	-	-	-	F	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055407	-	-	-	-	-	Netherlands	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055408	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis, cyclic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055409	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055410	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055411	-	-	-	M	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055412	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis, non-migratory polycylic erythematous psoriasiform plaques	KRT1	KRT1	1	1	Michel van Geel
00055413	-	-	-	-	-	-	-	1y	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055418	-	PubMed: Virtanen 2003	-	F	-	Sweden	Sweden;Norway	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055419	-	PubMed: Virtanen 2003	-	M	-	Sweden	Sweden;Norway	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055420	-	PubMed: Virtanen 2003	-	M	-	Sweden	Sweden;Norway	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055421	-	PubMed: Virtanen 2003	-	M	-	(Sweden)	South American	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055422	-	PubMed: Virtanen 2003	-	M	-	Sweden	Sweden;Norway	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055423	-	PubMed: Virtanen 2003	-	M	-	Sweden	Sweden;Norway	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055426	-	-	-	F	-	China	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055429	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055430	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055431	-	-	-	M	no	China	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, atypical form of EI	KRT1	KRT1	1	1	Michel van Geel
00055433	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055434	-	-	-	M	-	Japan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055436	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055448	-	-	-	M	-	Japan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055452	-	-	-	M	-	Kazakhstan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blisters, erythroderma at birth	KRT1	KRT1	1	1	Michel van Geel
00055453	-	-	-	-	-	Japan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, epidermal naevus with epidermolytic hyperkeratosis	KRT1	KRT1	1	1	Michel van Geel
00055454	-	-	-	-	-	Japan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	1	Michel van Geel
00055459	-	-	Family 1 related to family 2, 8 affected	-	-	Netherlands	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, diffuse PPK	KRT1	KRT1	1	8	Michel van Geel
00055484	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, annular	KRT10	KRT10	1	1	Michel van Geel
00055488	-	-	-	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, annular	KRT10	KRT10	1	1	Michel van Geel
00055832	-	-	Family 2, 2 affected	-	-	-	-	-	-	-	-	CIEHK	epidermolytic ichthyosis	KRT1	KRT1	1	2	Johan den Dunnen
00055846	-	-	Family 2 related to family 1, 6 affected	-	-	Netherlands	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, Diffuse PPK	KRT1	KRT1	1	6	Johan den Dunnen
00055847	-	-	Family 3, 9 affected	-	-	Netherlands	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, Diffuse PPK	KRT1	KRT1	1	9	Johan den Dunnen
00055848	-	-	patient 1	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering and erythroderma at birth	KRT1	KRT1	1	1	Johan den Dunnen
00055849	-	-	-	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	KRT1	KRT1	1	1	Johan den Dunnen
00055850	-	-	patient 3	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	KRT1	KRT1	1	1	Johan den Dunnen
00055851	-	-	-	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, keratosis in skin folds	KRT1	KRT1	1	1	Johan den Dunnen
00055852	-	-	family 5	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	KRT1	KRT1	1	1	Johan den Dunnen
00055853	-	-	family 6	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	KRT1	KRT1	1	1	Johan den Dunnen
00055854	-	-	family 7	-	-	Germany	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, EI naevus mother	KRT1	KRT1	1	1	Johan den Dunnen
00055855	-	-	patient 8	-	-	Portugal	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	KRT1	KRT1	1	1	Johan den Dunnen
00055856	-	-	patient 9	-	-	Lebanon	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, severe PPK, blistering arms	KRT1	KRT1	1	1	Johan den Dunnen
00055858	-	-	-	M	-	Japan	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, Severe PPK	KRT1	KRT1	1	1	Johan den Dunnen
00055859	-	-	-	M	-	China	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, severe PPK	KRT1	KRT1	1	1	Johan den Dunnen
00055860	-	-	family, 3 affected	M	-	(Korea, South (Republic))	-	-	-	-	-	CIEHK	epidermolytic ichthyosis, PPK, blistering	KRT1	KRT1	1	3	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD