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.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00013654 |
- |
- |
- |
F |
- |
Germany |
- |
- |
- |
no (pedigree) |
- |
FAP1 |
no additional phenotype data available |
2 |
1 |
Stefan Aretz |
00033889 |
- |
- |
5-generation family, 9 affecteds |
- |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
congenital, cerulean type (CCA2) |
5 |
9 |
Johan den Dunnen |
00033890 |
- |
- |
4-generation family, 18 affecteds (1 homozygous) |
- |
- |
United States |
- |
- |
- |
- |
- |
CTRCT |
congenital, cerulean type (CCA2); Cerulean blue |
1 |
17 |
Johan den Dunnen |
00033891 |
- |
- |
4-generation family, 13 affecteds |
- |
- |
Switzerland |
- |
- |
- |
- |
- |
CTRCT |
cataract, Coppock-like (CCL); pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) |
1 |
13 |
Johan den Dunnen |
00033892 |
- |
- |
5-generation family, 19 affecteds |
- |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
cataract, congenital; progressive polymorphic |
1 |
19 |
Johan den Dunnen |
00033893 |
- |
- |
5-generation family, 33 affecteds |
- |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
cataract, sutural, punctate and cerulean opacities (CSPC); sutural and cerulean opacities |
2 |
33 |
Johan den Dunnen |
00033894 |
CC00156 |
PubMed: Hansen 2009 |
3-generation family, 2 affecteds (F) |
F |
- |
Denmark |
- |
- |
- |
- |
- |
CTRCT |
- |
1 |
2 |
Johan den Dunnen |
00033908 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
CTRCT |
congenital |
4 |
1 |
Johan den Dunnen |
00033954 |
- |
- |
homozygous case Fam ADCC-1 |
- |
- |
United States |
- |
- |
- |
- |
- |
CTRCT |
congenital, cerulean type (CCA2); Cerulean blue |
2 |
1 |
Johan den Dunnen |
00033955 |
- |
- |
unrelated patient |
- |
- |
Switzerland |
- |
- |
- |
- |
- |
CTRCT |
congenital, cerulean type (CCA2) |
1 |
1 |
Johan den Dunnen |
00033956 |
- |
- |
4-generation family, 13 affecteds |
- |
- |
Switzerland |
- |
- |
- |
- |
- |
CTRCT |
cataract, Coppock-like (CCL); pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) |
1 |
13 |
Johan den Dunnen |
00033957 |
- |
- |
different families |
- |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
- |
1 |
6 |
Johan den Dunnen |
00033958 |
- |
- |
different families |
- |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
- |
1 |
4 |
Johan den Dunnen |
00033959 |
- |
- |
- |
- |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
- |
1 |
1 |
Johan den Dunnen |
00033960 |
- |
- |
4-generation family, 19 affecteds |
- |
- |
Chile |
- |
- |
- |
- |
- |
CTRCT |
same morphology and density in each eye (HP:?), pulverulent embryonal cataract (HP:0010693), pulverulent cortical opacities (HP:0010694), dense posterior star-shaped subcapsular cataract (HP:0007787) with pulverulent opacities in the cortical and embryonal regions, dense embryonal cataracts (HP:?) |
2 |
19 |
Johan den Dunnen |
00033961 |
- |
PubMed: Pauli 2007 |
mother, has affected son and daugther |
- |
- |
Germany |
- |
- |
- |
- |
- |
CTRCT |
congenital, nuclear with additional ring-shaped cortical opacity |
1 |
3 |
Johan den Dunnen |
00033962 |
- |
PubMed: Li 2008 |
5-generation family, 18 affecteds |
- |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
congenital; progressive polymorphic congenital coronary |
1 |
18 |
Johan den Dunnen |
00033963 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CTRCT |
progressive opacity |
2 |
1 |
Johan den Dunnen |
00033964 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CTRCT |
progressive opacity |
1 |
1 |
Johan den Dunnen |
00033965 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CTRCT |
- |
1 |
1 |
Johan den Dunnen |
00033966 |
CC00133 |
PubMed: Hansen 2009 |
affected mother and daugther |
F |
- |
Denmark |
- |
- |
- |
- |
- |
CTRCT |
- |
10 |
2 |
Johan den Dunnen |
00033967 |
- |
- |
3-generation family, 6 affecteds |
? |
- |
Lesotho |
Basotho |
- |
- |
- |
- |
CTRCT |
congenital |
1 |
6 |
Johan den Dunnen |
00033993 |
- |
- |
4-generation family, 7 affecteds |
- |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
cortical, pulverulent opacities |
1 |
7 |
Johan den Dunnen |
00034001 |
- |
PubMed: Ganguly 2008 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CTRCT |
zonular, progressive cataract |
1 |
1 |
Johan den Dunnen |
00034005 |
- |
- |
4-generation family, 8 affecteds |
- |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
congenital; variable lamellar / nuclear |
3 |
1 |
Johan den Dunnen |
00034007 |
- |
- |
family, 3 affecteds |
- |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
- |
5 |
1 |
Johan den Dunnen |
00034008 |
- |
- |
2-generation family, 2 affecteds |
- |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
zonular |
3 |
1 |
Johan den Dunnen |
00034009 |
- |
- |
family, 1 affected |
- |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
posterior polar/lenticonus, capsular dehiscence |
2 |
1 |
Johan den Dunnen |
00034010 |
- |
- |
family, 2 affecteds |
- |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
posterior subcapsula |
4 |
1 |
Johan den Dunnen |
00034023 |
- |
- |
- |
F |
no |
China |
- |
- |
- |
- |
- |
CTRCT |
congenital cataract |
1 |
1 |
Juhua Yang |
00034024 |
- |
- |
- |
F |
no |
China |
- |
- |
- |
- |
- |
CTRCT |
congenital cataract |
1 |
1 |
Juhua Yang |
00065033 |
- |
PubMed: Gillespie 2014, Journal: Gillespie 2014 |
has affected mother |
F |
no |
- |
- |
- |
- |
- |
- |
CCTRCT |
coralliform cataract |
1 |
2 |
Johan den Dunnen |
00072343 |
- |
PubMed: Faletra 2013, Journal: Faletra 2013 |
3-generation family, PatIII1 |
M |
no |
Italy |
Italian |
- |
- |
- |
- |
CCTRCT |
congenital cataract (HP:0000519) |
1 |
1 |
Jamie Zeegers |
00072345 |
- |
PubMed: Faletra 2013, Journal: Faletra 2013 |
3-generation family, PatIII2 |
M |
no |
Italy |
Italian |
- |
- |
- |
- |
CCTRCT |
congenital cataract (HP:0000519) |
1 |
1 |
Jamie Zeegers |
00072346 |
- |
PubMed: Faletra 2013, Journal: Faletra 2013 |
3-generation family, PatIII3 |
F |
no |
Italy |
Italian |
- |
- |
- |
- |
CCTRCT |
congenital cataract (HP:0000519) |
1 |
1 |
Jamie Zeegers |
00072347 |
- |
PubMed: Faletra 2013, Journal: Faletra 2013 |
3-generation family, PatII2 (son) |
M |
no |
Italy |
Italian |
- |
- |
- |
- |
CCTRCT |
congenital cataract (HP:0000519) |
1 |
1 |
Jamie Zeegers |
00072348 |
- |
PubMed: Faletra 2013, Journal: Faletra 2013 |
3-generation family, 5 affecteds (2F, 3M), mother, son and 3 grand children, PatI2 (mother) |
F |
no |
Italy |
Italian |
- |
- |
- |
- |
CCTRCT |
congenital cataract (HP:0000519) |
1 |
5 |
Jamie Zeegers |
00072352 |
- |
PubMed: Weisschuh 2012 |
4-generation family, 11 affecteds (5F, 6M) , PatIV1 |
M |
- |
Croatia (Hrvatska) |
Croation |
- |
- |
- |
- |
CCTRCT |
bilateral opacification of the lens (HP:?), anterior axial embryonal nuclear cataract (HP:?), no pathological findings of the anterior or posterior chamber structures (-HP:?) |
1 |
11 |
Jamie Zeegers |
00073120 |
21245961-FamPatIII9 |
PubMed: Yao 2011 |
4-generation family, 9affecteds (6F, 3M), PatIII9 |
M |
- |
China |
Chinese |
- |
- |
- |
- |
CCTRCT |
posterior subcapsular cataract (HP:0007787), bilateral opacification of the lens (-HP:?) |
1 |
9 |
Jamie Zeegers |
00073165 |
24312286-FamPatIII30 |
PubMed: Chen 2013, Journal: Chen 2013 |
4-generation family, 22 affecteds (11F, 11M), PatIII30 |
F |
- |
China |
Chinese |
>12y |
- |
- |
- |
CCTRCT |
membranous cataract (HP:0010922), strabismus (HP:0000486) |
1 |
22 |
Jamie Zeegers |
00074393 |
- |
PubMed: Bateman 2007, Journal: Bateman 2007 |
5-generation family, 21 affecteds (8F, 13M) |
F;M |
no |
Chile |
- |
- |
- |
- |
- |
CCTRCT |
cataracts included pulverulent embryonal cataract, pulverulent cortical opacities, dense posterior star-shaped subcapsular cataract with pulverulent opacities in the cortical and embryonal regions, and dense embryonal cataracts |
2 |
21 |
Johan den Dunnen |
00231413 |
Fam22 |
PubMed: Cox 2019 |
3-generation family, 3 affected (2F, M) |
F;M |
- |
Colombia |
- |
- |
- |
- |
- |
CLP |
- |
1 |
3 |
Timothy Cox |
00295488 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Mohammed Faruq |
00335164 |
3858 |
PubMed: Haer-Wigman 2017 |
family |
- |
no |
Netherlands |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
LOVD |
00392263 |
9 |
PubMed: Bell 2021 |
- |
F |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
retinal disease |
congenital cataract, myopia |
1 |
1 |
LOVD |
00392269 |
22 |
PubMed: Bell 2021 |
- |
M |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
retinal disease |
Pseudophakia, macular dystrophy, band keratopathy, esotropia |
1 |
1 |
LOVD |
00392275 |
28 |
PubMed: Bell 2021 |
- |
M |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
retinal disease |
aphakia |
1 |
1 |
LOVD |
00392278 |
40 |
PubMed: Bell 2021 |
- |
F |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
retinal disease |
aphakia(postsurgical) blepharitis, esotropia, asthma, allergy (sweetcorn, nuts, eggs) |
1 |
1 |
LOVD |
00392296 |
9 |
PubMed: Bell 2021 |
- |
M |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
retinal disease |
congenital cataract |
1 |
1 |
LOVD |
00392298 |
28 |
PubMed: Bell 2021 |
- |
M |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
retinal disease |
anterior/posterior subcapsular cataract and blue dot cataract, myopic astigmatism |
1 |
1 |
LOVD |
00392299 |
28 |
PubMed: Bell 2021 |
- |
M |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
retinal disease |
sutural/ blue dot cataract, myopic astigmatism |
1 |
1 |
LOVD |
00392300 |
28 |
PubMed: Bell 2021 |
- |
F |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
retinal disease |
blue dot cataract myopic astigmatism |
1 |
1 |
LOVD |
00392301 |
40 |
PubMed: Bell 2021 |
- |
F |
no |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
retinal disease |
congenital cataract |
1 |
1 |
LOVD |
00414372 |
WHP39 |
PubMed: Sun 2018 |
- |
F |
- |
China |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
LOVD |
00414381 |
WHP48 |
PubMed: Sun 2018 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
LOVD |
00414386 |
WHP53 |
PubMed: Sun 2018 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
LOVD |
00414388 |
WHP55 |
PubMed: Sun 2018 |
- |
F |
- |
China |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
LOVD |
00434038 |
Fam16 |
PubMed: Zhai 2017 |
3-generation family, 5 affected (f< 4M) |
M |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
cerulean cataract |
1 |
5 |
Johan den Dunnen |
00434039 |
Fam17 |
PubMed: Zhai 2017 |
3-generation family, 3 affected (F, 2M) |
M |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
cerulean cataract |
1 |
3 |
Johan den Dunnen |
00434129 |
Fam1PatII1 |
PubMed: Li 2019 |
2-generation family, affected mother/son |
M |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
see paper; ..., nuclear cataract, white opacities |
2 |
2 |
Johan den Dunnen |
00434130 |
Fam2PatII1 |
PubMed: Li 2019 |
2-generation family, affected mother/2 daughters |
F |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
see paper; ..., nuclear/lamellar cataract, blue punctate opacities |
1 |
3 |
Johan den Dunnen |
00434132 |
Fam4PatIV1 |
PubMed: Li 2019 |
4-generation family, 4 affected (2F, 2M) |
F |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
see paper; ..., total cataract |
1 |
4 |
Johan den Dunnen |
00434156 |
Fam01 |
PubMed: Fernandez-Alcalde 2021 |
- |
- |
- |
Spain |
- |
- |
- |
- |
- |
CTRCT |
lamellar cataract; no microphthalmia; no microcornea; no iris malformations |
1 |
1 |
Johan den Dunnen |
00434192 |
WCC17PatIV1 |
PubMed: Zhang 2018 |
4-generation family, 5 affected (5F) |
F |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
cortical punctate opacity |
1 |
5 |
Johan den Dunnen |
00434199 |
Pat1 |
PubMed: Karahan 2021 |
- |
- |
- |
Turkey |
- |
- |
- |
- |
- |
CTRCT |
bilateral congenital cataract |
1 |
1 |
Johan den Dunnen |
00434200 |
Pat4 |
PubMed: Karahan 2021 |
- |
- |
- |
Turkey |
- |
- |
- |
- |
- |
CTRCT |
bilateral congenital cataract |
1 |
1 |
Johan den Dunnen |
00434212 |
Fam27PatI |
PubMed: Jackson 2020 |
family |
F |
- |
- |
Asia |
- |
- |
- |
- |
? |
cerulean cataract; myopia; astigmatism |
1 |
3 |
Johan den Dunnen |
00434226 |
Fam27PatII |
PubMed: Jackson 2020 |
sib |
F |
- |
- |
Asia |
- |
- |
- |
- |
? |
cerulean cataract; hypermetropia; astigmatism |
1 |
1 |
Johan den Dunnen |
00434227 |
Fam27PatIII |
PubMed: Jackson 2020 |
sib |
M |
- |
- |
Asia |
- |
- |
- |
- |
? |
cerulean cataract; hypermetropia; astigmatism |
1 |
1 |
Johan den Dunnen |
00434245 |
Fam26275 |
PubMed: Jackson 2020 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
? |
- |
1 |
1 |
Johan den Dunnen |
00434289 |
Fam23303 |
PubMed: Jackson 2020 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Johan den Dunnen |
00434296 |
CAT-11 |
PubMed: Zhuang 2019 |
2-generation family, 3 affected (3M) |
M |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
- |
1 |
3 |
Johan den Dunnen |
00434297 |
CAT-44 |
PubMed: Zhuang 2019 |
family |
- |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
- |
1 |
1 |
Johan den Dunnen |
00434298 |
CAT-24 |
PubMed: Zhuang 2019 |
family |
- |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
- |
3 |
1 |
Johan den Dunnen |
00434299 |
CAT-53 |
PubMed: Zhuang 2019 |
patient |
- |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
- |
3 |
1 |
Johan den Dunnen |
00434300 |
CAT-54 |
PubMed: Zhuang 2019 |
family |
- |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
- |
3 |
1 |
Johan den Dunnen |
00441809 |
CSA133 |
PubMed: Javadiyan 2017 |
3-generation family, affected mother/daughter |
F |
- |
Australia |
- |
- |
- |
- |
- |
CTRCT |
see paper; ... |
1 |
2 |
Johan den Dunnen |
00441810 |
CRVEEH85 |
PubMed: Javadiyan 2017 |
3-generation family, 4 affected (3F, M) |
F;M |
- |
Australia |
- |
- |
- |
- |
- |
CTRCT |
see paper; ... |
1 |
4 |
Johan den Dunnen |
00441823 |
Fam1/2 |
PubMed: Hussain 2023 |
two families, 5-generation with 9 affected (2F, 7M)/3-generation with 4 affected (3F, M) |
F;M |
- |
Pakistan |
- |
- |
- |
- |
- |
CTRCT |
see paper; ... |
1 |
13 |
Johan den Dunnen |
00444119 |
Fam7PatII2 |
PubMed: Astiazaran 2018 |
2-generation family, affected mother/son |
F |
- |
Mexico |
- |
- |
- |
- |
- |
CTRCT |
bilateral total cataract; strabismus, microphthalmia |
1 |
2 |
Johan den Dunnen |
00444120 |
Fam7PatI2 |
PubMed: Astiazaran 2018 |
son |
M |
- |
Mexico |
- |
- |
- |
- |
- |
CTRCT |
bilateral lamellar cataract |
1 |
1 |
Johan den Dunnen |
00444141 |
FamB |
PubMed: Sun 2017 |
3-generation family, affected mother/son |
F;M |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
see paper; ..., microcornea, cataract, posterior segment coloboma, high intraocular pressure |
1 |
2 |
Johan den Dunnen |
00444876 |
Pat2 |
PubMed: Fan 2020 |
2-generation family, 1 affected |
- |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
binocular, all white |
1 |
1 |
Johan den Dunnen |
00444896 |
Fam13PatII1 |
PubMed: Ma 2016 |
2-generation family, 1 affected, unaffected parents |
F |
- |
Australia |
- |
- |
- |
- |
- |
CTRCT |
see paper; ..., bilateral cataract |
1 |
1 |
Johan den Dunnen |
00444918 |
Fam35PatII1 |
PubMed: Ma 2016 |
2-generation family, 1 affected, unaffected parents |
F |
- |
Australia |
- |
- |
- |
- |
- |
CTRCT |
see paper; ..., bilateral cataract, 2y-visual acuity 6/80 bilateral, nystagmus |
2 |
1 |
Johan den Dunnen |
00444920 |
Fam37PatII1 |
PubMed: Ma 2016 |
2-generation family, 1 affected, unaffected parents |
M |
- |
Australia |
- |
- |
- |
- |
- |
CTRCT |
see paper; ..., bilateral anterior polar cataract, L amblyopia, 19y-visual acuity R 6/6 L count fingers |
1 |
1 |
Johan den Dunnen |
00445057 |
CC0000222 |
PubMed: Kessel 2021 |
patient |
- |
- |
Denmark |
- |
- |
- |
- |
- |
CTRCT |
cataract |
1 |
1 |
Johan den Dunnen |
00445079 |
Fam2PatIII1 |
PubMed: Reichsteiner 2021 |
3-generation family, affected brother/sister, unaffected heterozygous carrier father |
M |
- |
Switzerland |
India |
- |
- |
- |
- |
CTRCT |
nuclear plus sutural cataract; mild high-frequency sensorineural hearing loss; no aphakic glaucoma |
1 |
2 |
Johan den Dunnen |
00445080 |
Fam2PatIII2 |
PubMed: Reichsteiner 2021 |
sister |
F |
- |
Switzerland |
India |
- |
- |
- |
- |
CTRCT |
nuclear plus sutural cataract; non-syndromic; no aphakic glaucoma |
1 |
1 |
Johan den Dunnen |
00445081 |
Fam3PatII1 |
PubMed: Reichsteiner 2021 |
2-generation family, 1 affected, unaffected non-carrier parents |
M |
- |
Switzerland |
- |
- |
- |
- |
- |
CTRCT |
total cataract; non-syndromic; aphakic glaucoma |
1 |
1 |
Johan den Dunnen |
00445134 |
FamDJC1PatIII4 |
PubMed: Santhiya 2010 |
3-generation family, 1 affected, unaffected heterozygous parents/relatives |
F |
yes |
India |
- |
- |
- |
- |
- |
CTRCT |
see paper; ..., congenital zonular cataract |
1 |
1 |
Johan den Dunnen |
00445135 |
FamJPM1PatIII2 |
PubMed: Santhiya 2010 |
3-generation family, 6 affected (3F, 3M) |
F |
- |
India |
- |
- |
- |
- |
- |
CTRCT |
see paper; ...,bilateral congenital cataract, amblyopia and nystagmus left eye; developmental milestones normal |
1 |
6 |
Johan den Dunnen |
00445137 |
FamPatIV1 |
PubMed: Xu 2021 |
4-generation family, 5 affected (3F, 2M) |
M |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
see paper; ..., bilateral, progressive congenital cataract, developed during embryonic and fetal phases, aggravated with age; mother congenital bilateral cortical opacity |
1 |
5 |
Johan den Dunnen |
00446440 |
Fam22Pat61 |
PubMed: Liu 2023 |
2-generation family, 1 affected, unaffected non-carrier parents |
F |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
bilateral congenital cataract |
1 |
1 |
Johan den Dunnen |
00446472 |
Fam70Pat192 |
PubMed: Liu 2023 |
2-generation family, 1 affected, unaffected non-carrier parents |
F |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
bilateral congenital cataract |
1 |
1 |
Johan den Dunnen |
00446510 |
Fam116Pat311 |
PubMed: Liu 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
CTRCT |
bilateral congenital cataract |
1 |
1 |
Johan den Dunnen |
00446557 |
FamAPatIII1 |
PubMed: Chen 2021 |
3-generation family, 3 affected (2F, M) |
F |
- |
China |
Han |
- |
- |
- |
- |
CTRCT |
bilateral complete cataract; intraocular lens; no optic atrophy; nystagmus; esotropia |
1 |
3 |
Johan den Dunnen |
00446558 |
FamAPatII1 |
PubMed: Chen 2021 |
mother |
F |
- |
China |
Han |
- |
- |
- |
- |
CTRCT |
bilateral complete cataract; intraocular lens; no optic atrophy; nystagmus; esotropia |
1 |
1 |
Johan den Dunnen |
00446559 |
FamAPatI1 |
PubMed: Chen 2021 |
grandfather |
M |
- |
China |
Han |
- |
- |
- |
- |
CTRCT |
bilateral complete cataract; aphakia; optic atrophy; nystagmus; esotropia |
1 |
1 |
Johan den Dunnen |
00446560 |
FamBPatIII1 |
PubMed: Chen 2021 |
3-generation family, 3 affected (2F, M) |
F |
- |
China |
Han |
- |
- |
- |
- |
CTRCT |
bilateral nuclear cataract; intraocular lens; no optic atrophy; no nystagmus; no esotropia |
1 |
3 |
Johan den Dunnen |