Disease #05165 (CCTRCT (cataract, congenital (CCTRCT)))

Official abbreviation	CCTRCT
Name	cataract, congenital (CCTRCT)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	100
Phenotype entries for this disease	100
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2016-05-15 20:37:47 +02:00 (CEST)
Date last edited	N/A

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

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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'

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100 entries on 1 page. Showing entries 1 - 100.

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
00065031	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	3-generation family, 1 affected, no family hostory	F	yes	-	-	-	-	-	-	CCTRCT	nuclear cataract; microcornea; likely dominant inheritance	CRYGC	CRYGC	1	1	Johan den Dunnen
00065032	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	no family history	M	yes	-	-	-	-	-	-	CCTRCT	nuclear, lamellar cataract, posterior capsule opacity	GJA8	GJA8	1	1	Johan den Dunnen
00065033	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected mother	F	no	-	-	-	-	-	-	CCTRCT	coralliform cataract	CRYBB2	CRYBB2	1	2	Johan den Dunnen
00065034	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected mother and maternal grandfather	F	no	-	-	-	-	-	-	CCTRCT	total cataract; amblyopia, convergent squint, all other measurements within normal range	GJA8	GJA8	1	3	Johan den Dunnen
00065035	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected mother, grandmother, great grandmother, 3 maternal aunts	M	no	-	-	-	-	-	-	CCTRCT	subcapsular, lamellar, y-sutural cataract	GJA3	GJA3	1	6	Johan den Dunnen
00065036	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected mother	M	no	-	-	-	-	-	-	CCTRCT	nuclear and y-sutural cataract	GJA3	GJA3	1	2	Johan den Dunnen
00065037	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	3-generation family, affected son and father	F	yes	-	-	-	-	-	-	CCTRCT	nuclear, lamellar cataract; intermittent divergent squint	GALK1	GJA3	1	2	Johan den Dunnen
00065038	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	no family history	F	yes	-	-	-	-	-	-	CCTRCT	R: nuclear cataract; L: subcapsular cataract; iris slightly atrophic (more R than L)	FYCO1	FYCO1	1	1	Johan den Dunnen
00065039	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected father, paternal cousin	M	no	-	-	-	-	-	-	CCTRCT	Spoke-like, nuclear component, subcapsular, lamellar cataract	BFSP2	BFSP2	1	3	Johan den Dunnen
00065040	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected sister, mother, maternal grandfather	M	no	-	-	-	-	-	-	CCTRCT	nuclear, lamellar cataract	CRYGC	CRYGC	1	4	Johan den Dunnen
00065041	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected sister	M	yes	-	-	-	-	-	-	CCTRCT	R: total cataract, L: central and posterior cataract; Posterior lenticonus, amblyopia and secondary glaucoma	FYCO1	FYCO1	1	2	Johan den Dunnen
00065042	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected mother	F	no	-	-	-	-	-	-	CCTRCT	total cataract; horizontal manifest latent nystagmus	HSF4	HSF4	1	2	Johan den Dunnen
00065043	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected brother	F	no	-	-	-	-	-	-	CCTRCT	cataract	GJA3	GJA3	1	2	Johan den Dunnen
00065044	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected mother, maternal grandfather, maternal cousins	M	no	-	-	-	-	-	-	CCTRCT	lamellar cataract	CRYBA1	CRYBA1	1	4	Johan den Dunnen
00065045	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected mother and brother	F	no	-	-	-	-	-	-	CCTRCT	lamellar, sutural cataract	CRYBA1	CRYBA1	1	3	Johan den Dunnen
00065046	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected father and sister	F	no	-	-	-	-	-	-	CCTRCT	nuclear cataract	CRYBA1	CRYBA1	1	3	Johan den Dunnen
00065047	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected 2 has affected children	F	yes	-	-	-	-	-	-	CCTRCT	cataract	GJA3	GJA3	1	3	Johan den Dunnen
00065048	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	no family history	F	yes	-	-	-	-	-	-	CCTRCT	R: nuclear, sutural, posterior plaque cataract; R: PFV, microphthalmia, horizontal jerk nystagmus, right divergent squint, strabismus; mild microcephaly, developmental delay, hypotonia, up-slanted and long palpebral fissures, small tapered fingers	CRYGD	CRYGD	1	1	Johan den Dunnen
00065049	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	4-generation family, 1 affected, no family history	M	yes	-	-	-	-	-	-	CCTRCT	nuclear cataract; bilateral microphthalmia, convergent squint, low-frequency multiplanar nystagmus, R scalloped pupil, roving eye movements, pupils difficult to dilate, no recordable VEP response; mild microcephaly and LD	RAB18	RAB18	1	1	Johan den Dunnen
00065050	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	no family history	M	no	-	-	-	-	-	-	CCTRCT	R: lamellar cataract; L: minimal changes; vitreous abnormality, optic nerve hypoplasia (worse in R), R divergent squint, R exotropia, very pale fundi, hypermetropia, bilateral abnormal hypoplastic discs, abnormal trafficking of vessels, lens subluxation, phacodonesis; hypotonia, small size, poor weight gain due to feeding problems, developmental delay, communication and comprehension limited (no speech at 6 yrs, uses symbols to communicate), hand flapping, unusual head shape, fine hair with unusual hairline and chaotic patterning, single palmar crease, unusual low columnar nose, down-slanted palpebral fissures, thin upper lip, contact dermatitis, diffuse cerebral and cerebella atrophy, and reduced white matter on MRI	EPHA2	EPHA2	1	1	Johan den Dunnen
00065051	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected paternal great uncle	M	yes	-	-	-	-	-	-	CCTRCT	nuclear, cortical, lamellar cataract; watering eyes since birth; delayed speech and motor movements, developmental delay	CRYBA1	CRYBA1	1	2	Johan den Dunnen
00065052	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected daughter	M	no	-	-	-	-	-	-	CCTRCT	cataract; congenital nystagmus, strabismus, alternate large-angle squint; cardiomyopathy	CRYBA1	CRYBA1	1	2	Johan den Dunnen
00065053	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	no family history	M	no	-	-	-	-	-	-	CCTRCT	nuclear, lamellar cataract; developmental delay, spastic diplegia, cryptogenic neonatal liver cirrhosis	CYP51A1	CYP51A1	2	1	Johan den Dunnen
00065054	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected daughter	M	no	-	-	-	-	-	-	CCTRCT	cataract; macrocephaly	GJA3	GJA3	1	2	Johan den Dunnen
00065055	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected maternal great grandmother, maternal cousins	M	no	-	-	-	-	-	-	CCTRCT	L: dense nuclear cataract; R: nuclear cataract, lamellar, posterior polar; L: hypoplastic iris, nystagmus; severe mental retardation	NHS	NHS	1	3	Johan den Dunnen
00065056	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	no family history	M	no	-	-	-	-	-	-	CCTRCT	posterior opacities; neurologic developmental delay, microcephaly	SC5D	SC5D	2	1	Johan den Dunnen
00065077	-	PubMed: Semina 1998	3-generation family, 6 affecteds (3F, 3M)	F;M	no	United States	-	-	-	-	-	CCTRCT	anterior segment mesenchymal dysgenesis	PITX3	PITX3	1	6	Deepti Anand
00065078	-	PubMed: Semina 1998	2-generation family, affected mother/son	F;M	no	United States	-	-	-	-	-	CCTRCT	congenital cataract, anterior segment mesenchymal dysgenesis	PITX3	PITX3	1	2	Deepti Anand
00065090	-	PubMed: Verdin 2014, Journal: Verdin 2014	3-generation family, 4 affecteds (2F, 2M), grandmother, son, grandaugther/son	F;M	no	Belgium	-	-	-	-	-	CCTRCT	congenital cataract (HP:0000519), posterior subcapsular cataract (HP:0007787), anterior segment dysgenesis (HP:0007700), corneal opacity (HP:0007957)	PITX3	PITX3	1	4	Deepti Anand
00065091	-	PubMed: Verdin 2014, Journal: Verdin 2014	3-generation family, 6 affecteds (4F, 2M)	F;M	no	Belgium	-	-	-	-	-	CCTRCT	congenital cataract (HP:0000519), microcornea (HP:0000482), corneal opacity (HP:0007957), irdocorneal adhesions, glaucoma (HP:0000501), nystagmus (HP:0000639)	PITX3	PITX3	1	6	Deepti Anand
00065092	-	PubMed: Verdin 2014, Journal: Verdin 2014	4-generation family, 9 affecteds (5F, 4M)	F;M	no	Belgium	-	-	-	-	-	CCTRCT	congenital cataract (HP:0000519), corneal opacity (HP:0007957), anterior segment dysgenesis (HP:0007700)	PITX3	PITX3	1	9	Deepti Anand
00065093	-	PubMed: Verdin 2014, Journal: Verdin 2014	3-generation family, 6 affecteds (2F, 4M)	F;M	no	Belgium	-	-	-	-	-	CCTRCT	congenital cataract (HP:0000519), nystagmus (HP:0000639)	PITX3	PITX3	1	6	Deepti Anand
00065094	-	PubMed: Verdin 2014, Journal: Verdin 2014	3-generation family, 3 affecteds (F, 2M)	F;M	-	Belgium	Belgina-Romanian	-	-	-	-	CCTRCT	congenital cataract (HP:0000519), microcornea (HP:0000482)	PITX3	PITX3	1	3	Deepti Anand
00072260	FamPatI2	PubMed: Safieh 2009, PubMed: Khan 2015	Family, mother is affected, father is carrier and 4-affected siblings, I-2	F	-	Saudi Arabia	Saudi	>35y	-	-	Surgery	CCTRCT	bilateral aphakia (HP:0007707), retinal dystrophic (HP:?), depressed retinal function (HP:?)	CRYAB	CRYAB	1	5	Jamie Zeegers
00072262	FamPatII1	PubMed: Safieh 2009, PubMed: Khan 2015	Family, mother is affected, father is carrier and 4-affected siblings, II-1	F	-	Saudi Arabia	Saudi	>16y	-	-	Surgery	CCTRCT	right eye aphakia (HP:0007707), right eye retinal detachment (HP:0000541), left eye revealed nothing remarkable (HP:?)	CRYAB	CRYAB	1	1	Jamie Zeegers
00072263	FamPatII2	PubMed: Safieh 2009, PubMed: Khan 2015	Family, mother is affected, father is carrier and 4-affected siblings, II-2	F	-	Saudi Arabia	Saudi	>14y	-	-	Surgery	CCTRCT	bilateral pseudophakia (HP:?), unremarkable retinal examination (HP:?)	CRYAB	CRYAB	1	1	Jamie Zeegers
00072264	FamPatII7	PubMed: Safieh 2009, PubMed: Khan 2015	Family, mother is affected, father is carrier and 4-affected siblings, II-7	M	-	Saudi Arabia	Saudi	>01y	-	-	-	CCTRCT	no ocular abnormality (-HP:?), clinically insignificant fine opacities in the red reflect (HP:?)	CRYAB	CRYAB	1	1	Jamie Zeegers
00072265	FamPatII4	PubMed: Safieh 2009, PubMed: Khan 2015	Family, mother is affected, father is carrier and 4-affected siblings, II-4	F	-	Saudi Arabia	Saudi	-	-	-	-	CCTRCT	visually insignificant lens opacities (HP:0000518), ophthalmic examination unremarkable (HP:?)	CRYAB	CRYAB	1	1	Jamie Zeegers
00072268	-	PubMed: Jiaox 2015, Journal: Jiaox 2015	Family, 14-affected family members	-	yes	Pakistan	Pakistani	-	-	-	-	CCTRCT	congenital cataract (HP:0000519)	CRYAB	CRYAB	1	14	Jamie Zeegers
00072269	-	PubMed: Jiaox 2015, Journal: Jiaox 2015	Family, 6-affected family members	-	yes	Pakistan	Pakistani	-	-	-	-	CCTRCT	congenital cataract (HP:0000519)	CRYAB	CRYAB	1	6	Jamie Zeegers
00072342	FamPatIV1	PubMed: Zhuang 2015, Journal: Zhuang 2015	4 generation family, 4-affecteds (4F), PatIV1	F	no	China	Chinese	-	-	-	-	CCTRCT	impaired visual acuity (HP:0030532), lens opacity (HP:0000518), opacity in the central nucleus region of both lenses (HP:0000518), Y-sutures were also involved with prominent opacity (HP:?), no systemic disease (-HP:?), no other ocular disease (-HP:?)	CRYGD	CRYGD	1	4	Jamie Zeegers
00072343	-	PubMed: Faletra 2013, Journal: Faletra 2013	3-generation family, PatIII1	M	no	Italy	Italian	-	-	-	-	CCTRCT	congenital cataract (HP:0000519)	CRYBB2	CRYBB2	1	1	Jamie Zeegers
00072345	-	PubMed: Faletra 2013, Journal: Faletra 2013	3-generation family, PatIII2	M	no	Italy	Italian	-	-	-	-	CCTRCT	congenital cataract (HP:0000519)	CRYBB2	CRYBB2	1	1	Jamie Zeegers
00072346	-	PubMed: Faletra 2013, Journal: Faletra 2013	3-generation family, PatIII3	F	no	Italy	Italian	-	-	-	-	CCTRCT	congenital cataract (HP:0000519)	CRYBB2	CRYBB2	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)	CRYBB2	CRYBB2	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)	CRYBB2	CRYBB2	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:?)	CRYBA4, CRYBB1, CRYBB2, CRYBB3	CRYBB2	1	11	Jamie Zeegers
00072355	21866214-FamPatIV7	PubMed: de Figueiredo 2011	4-generation family, 8 affecteds (3F, 5M)/30 unaffecteds, PatIV7 only homozygous case	M	-	Brazil	Brazilian	-	-	-	surgery	CCTRCT	lamellar (HP:0007971), visual acuity (HP:0030532)	CRYGD	CRYGD	1	2	Jamie Zeegers
00072356	21866214FamPatIII22	PubMed: de Figueiredo 2011	PatIII22	M	-	Brazil	Brazilian	>25y	-	-	-	CCTRCT	visual acuity (HP:0030532), pulverulent (HP:0010693)	CRYGD	CRYGD	1	1	Jamie Zeegers
00073106	25729975-FamPatIII6	PubMed: Kong 2015, Journal: Kong 2015	4-generation family, 10 affecteds (4F, 6M), PatIII6	F	no	China	Chinese	>33y	-	-	-	CCTRCT	blurred vision (HP:0000622), poor eyesight (HP:?), ring with white particles (HP:?), no other eye discomfort (-HP:?)	CRYAA	CRYAA	1	10	Jamie Zeegers
00073107	24926697-FamPatIV3	PubMed: Zhang 2014, Journal: Zhang 2014	4-generation family, 5 affecteds (3F, 2M)	F	no	China	Chinese	-	-	-	-	CCTRCT	nuclear opacities (HP:?)	CRYBA1	CRYBA1	1	5	Jamie Zeegers
00073113	23441109-FamAPatMC41	PubMed: Kondo 2013	3-generation family, 6-affecteds (3F, 3M), PatMC41	M	-	Korea	Korean	-	-	-	-	CCTRCT	microphthalmia (HP:0000568), nystagmus (HP:0000639), amblyopia (HP:0000646), glaucoma (HP:0000501), esotropia (HP:0000565), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?)	CRYAA	CRYAA	1	6	Jamie Zeegers
00073115	23441109-FamAPatMC42	PubMed: Kondo 2013	PatMC42	F	-	Korea	Korean	-	-	-	-	CCTRCT	no microphthalmia (-HP:0000568), nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?)	CRYAA	CRYAA	1	1	Jamie Zeegers
00073116	23441109-FamBPatMC13	PubMed: Kondo 2013	2-generation family, 3 affecteds (F, 2M)	F	-	Korea	Korean	-	-	-	-	CCTRCT	nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?)	CRYGC	CRYGC	1	3	Jamie Zeegers
00073118	23441109-FamBPatMC14	PubMed: Kondo 2013	PatMC13	M	-	Korea	Korean	-	-	-	-	CCTRCT	nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?)	CRYGC	CRYGC	1	1	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:?)	CRYBB2	CRYBB2	1	9	Jamie Zeegers
00073134	26867756-FamCSA110Pat01	PubMed: Javadiyan 2016, Journal: Javadiyan 2016	4-generation family, 6-affecteds (3F, 3M), Pat01	F	no	Australia	Australian	>16y	-	-	Surgery	CCTRCT	bilateral lamellar cataract (HP:0007971)	CRYAA	CRYAA	1	6	Jamie Zeegers
00073136	26867756-FamCSA110Pat03	PubMed: Javadiyan 2016, Journal: Javadiyan 2016	Pat03	F	no	Australia	Australian	>46y	-	-	Surgery	CCTRCT	bilateral lamellar cataract (HP:0007971)	CRYAA	CRYAA	1	1	Jamie Zeegers
00073138	26867756-FamCSA110Pat07	PubMed: Javadiyan 2016, Journal: Javadiyan 2016	Pat07	M	no	Australia	Australian	-	-	-	Surgery	CCTRCT	severe bilateral lamellar cataract (HP:0007971)	CRYAA	CRYAA	1	1	Jamie Zeegers
00073139	26867756-FamCSA110Pat04	PubMed: Javadiyan 2016, Journal: Javadiyan 2016	Pat04	F	no	Australia	Australian	>76y	-	-	Surgery	CCTRCT	-	CRYAA	CRYAA	1	1	Jamie Zeegers
00073141	26867756-FamCSA110Pat05	PubMed: Javadiyan 2016, Journal: Javadiyan 2016	Pat05	M	no	Australia	Australian	>61y	-	-	Surgery	CCTRCT	bilateral lamellar cataract (HP:0007971), anterior cortical spokes (HP:?)	CRYAA	CRYAA	1	1	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)	CRYBB2	CRYBB2	1	22	Jamie Zeegers
00073168	23288997-FamPatIII5	PubMed: Dongmei 2012	3-generation family, 4 affecteds (2F, 2M)	F	-	China	Chinese	>45y	-	-	-	CCTRCT	y-suture cataracts (HP:0008031)	CRYAA	CRYAA	1	4	Jamie Zeegers
00073169	23288997-FamPatII7	PubMed: Dongmei 2012	PatII7	M	-	China	Chinese	>43y	-	-	-	CCTRCT	y-suture cataracts (HP:0008031)	CRYAA	CRYAA	1	1	Jamie Zeegers
00073170	23288997-FamPatIII6	PubMed: Dongmei 2012	PatIII6	M	-	China	Chinese	>13y	-	-	-	CCTRCT	y-suture cataracts (HP:0008031)	CRYAA	CRYAA	1	1	Jamie Zeegers
00073171	23288997-FamPatIII2	PubMed: Dongmei 2012	PatIII2	F	-	China	Chinese	-	-	-	-	CCTRCT	y-suture cataracts (HP:0008031)	CRYAA	CRYAA	1	1	Jamie Zeegers
00073184	22876111-FamPatII7	PubMed: Guo 2012	4-generation family, 6-affecteds (4F,2M), PatII7	M	-	China	Chinese	>08y	-	-	-	CCTRCT	bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)	CRYGC	CRYGC	1	6	Jamie Zeegers
00073186	22876111FamPatI2	PubMed: Guo 2012	PatI2	M	-	China	Chinese	>68y	-	-	-	CCTRCT	bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)	CRYGC	CRYGC	1	1	Jamie Zeegers
00073189	22876111FamPatIII6	PubMed: Guo 2012	PatIII6	F	-	China	Chinese	-	-	-	-	CCTRCT	bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)	CRYGC	CRYGC	1	1	Jamie Zeegers
00073190	22876111-FamPatIV1	PubMed: Guo 2012	PatIV1	F	-	China	Chinese	>01y	-	-	-	CCTRCT	bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)	CRYGC	CRYGC	1	1	Jamie Zeegers
00073191	22876111-FamPatII2	PubMed: Guo 2012	PatII2	F	-	China	Chinese	>13y	-	-	-	CCTRCT	bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)	CRYGC	CRYGC	1	1	Jamie Zeegers
00073192	22876111-FamPatIII3	PubMed: Guo 2012	PatIII3	F	-	China	Chinese	>06y	-	-	-	CCTRCT	bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)	CRYGC	CRYGC	1	1	Jamie Zeegers
00073555	-	PubMed: AlFadhli 2012	3-generation family, 7 affecteds (4F, 3M), grandmother I1	F	-	Kuwait	-	-	-	-	-	CCTRCT	anterior polar cataract (HP:0001134)	CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD	CRYGB	1	7	Johan den Dunnen
00073637	24465161-FamPatIII1	PubMed: Zhai 2014, Journal: Zhai 2014	3-generation family, affected father/daughter, PatIII1	F	-	China	Chinese	>01y	-	-	-	CCTRCT	bilateral congenital nuclear cataract (HP:0008024), posterior polar cataract (HP:0001115), lens opacification (HP:?), horizontal nystagmus (HP:0000666), amblyopia (HP:0000646)	CRYGD	CRYGD	1	2	Jamie Zeegers
00073638	24465161-FamPatII2	PubMed: Zhai 2014, Journal: Zhai 2014	PatII2	M	-	China	Chinese	>30y	-	-	-	CCTRCT	bilateral congenital nuclear cataract (HP:0008024), posterior polar cataract (HP:0001115), lens opacification (HP:?), horizontal nystagmus (HP:0000666), amblyopia (HP:0000646)	CRYGD	CRYGD	1	1	Jamie Zeegers
00073640	22219628-Fam1PatV1	PubMed: VanderVeen 2011	5-generation family, 18 affecteds (12F, 6M), PatV1	F	-	United States	European, north	-	-	-	-	CCTRCT	fix on light (HP:?), normal pupillary reactions (HP:?), abnormal red reflex (HP:?), left aphakic (HP:?)	CRYGD	CRYGD	1	18	Jamie Zeegers
00073641	22219628-Fam2PatIII1	PubMed: VanderVeen 2011	3-generation family, affected mother/son, PatIII1	M	-	United States	Iranian	-	-	-	-	CCTRCT	bilateral involvement (HP:?), abnormal red reflex (HP:?), specks in the nucleus of the lens (HP:?), clear peripheral and intervening lens (HP:?)	CRYGD	CRYGD	1	2	Jamie Zeegers
00073642	21527994-FamPatI1	PubMed: Wang 2011	3-generation family with 5 affecteds (2F, 3M), PatI1	F	-	China	Chinese	-	-	-	Surgery	CCTRCT	bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?)	CRYGD	CRYGD	1	5	Jamie Zeegers
00073644	21527994-FamPatII1	PubMed: Wang 2011	PatII1	M	-	China	Chinese	-	-	-	Surgery	CCTRCT	bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?)	CRYGD	CRYGD	1	1	Jamie Zeegers
00073645	21527994-FamPatIII1	PubMed: Wang 2011	PatIII1	M	-	China	Chinese	-	-	-	Surgery	CCTRCT	bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?)	CRYGD	CRYGD	1	1	Jamie Zeegers
00073646	21527994-FamPatII3	PubMed: Wang 2011	PatII3	F	-	China	Chinese	-	-	-	-	CCTRCT	bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?)	CRYGD	CRYGD	1	1	Jamie Zeegers
00073647	21527994-FamPatII7	PubMed: Wang 2011	PatII7	M	-	China	Chinese	-	-	-	-	CCTRCT	bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?)	CRYGD	CRYGD	1	1	Jamie Zeegers
00073664	19633732-Fam1PatII5	PubMed: Khan 2009	2-generation family, 5-affecteds (5M), PatII5	M	no	Saudi Arabia	-	>04y	-	-	-	CCTRCT	cerulean cataract (HP:0007976), photophobia (HP:0000613), no visual acuity test abnormality (-HP:0030532)	CRYGD	CRYGD	6	5	Jamie Zeegers
00073665	19633732-Fam1PatII4	PubMed: Khan 2009	PatII4	M	no	Saudi Arabia	-	>06y	-	-	-	CCTRCT	cerebral palsy (HP:0100021), difficulty hearing (HP:?), development delay (HP:?), coralliform cateract (HP:0010921)	CRYGD	CRYGD	2	1	Jamie Zeegers
00073667	19633732-Fam1PatII1	PubMed: Khan 2009	PatII1	M	no	Saudi Arabia	-	-	-	-	Surgery	CCTRCT	bilateral pseudophakia (HP:?)	CRYGD	CRYGD	2	1	Jamie Zeegers
00073668	19633732-Fam2PatII1	PubMed: Khan 2009	2-generation family, 1 affected	F	yes	Saudi Arabia	-	>07y	-	-	-	CCTRCT	cerulean cataract (HP:0007976), visual acuity test abnormality (HP:0030532)	CRYGD	CRYGD	1	1	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	CRYBB1, CRYBB2	CRYBB2	2	21	Johan den Dunnen
00117865	family;Cata_DGU-12;Fam17	PubMed: Aldahmesh 2012, PubMed: Aldahmesh 2012, PubMed: Khan 2015	5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents (2nd cousin parents)	F;M	yes	Saudi Arabia	Arab	-	-	-	-	CCTRCT	see paper; ..., isolated congenital cataract, otherwise normal ophthalmologic and systemic examination; no evidence of cardiomyopathy, skeletal myopathy or lactic acidosis	AGK	AGK	1	3	Fowzan Alkuraya
00207341	-	-	-	-	-	(China)	-	-	-	-	-	CCTRCT	-	PANK4	PANK4	1	1	Sen Lin
00208776	-	-	-	-	-	Israel	Arab Muslim	-	-	-	-	CCTRCT	congenital cataract congenital heart defects profound infantile onset neurological impairment growth retardation congenital hypotonia deafness microcephaly facial dysmorphism	TOR1AIP1	TOR1AIP1	1	7	Ronen Spiegel
00383384	1_III-1	PubMed: Wang 2019	Family 1, individual III-1	F	-	China	-	-	-	-	-	CCTRCT	Nuclear cataract	MYH9	MYH9	1	1	LOVD
00383385	1_II-2	PubMed: Wang 2019	Family 1, individual II-2	F	-	China	-	-	-	-	-	CCTRCT	Spot-like cataract in the peripheral area of the lens	MYH9	MYH9	1	1	LOVD
00383386	2_IV-7	PubMed: Wang 2019	Family 2, individual IV-7	F	-	China	-	-	-	-	-	CCTRCT	Not determined Irregular spot-like cataract in the middle of the lens	RPGRIP1	EPHA2, RPGRIP1	2	1	LOVD
00383387	3_IV-1	PubMed: Wang 2019	Family 3, individual IV-1	M	-	China	-	-	-	-	-	CCTRCT	Two round-shaped opacifications in the middle of the lens	PAX6	PAX6	1	1	LOVD
00383388	4_III-4	PubMed: Wang 2019	Family 4, individual III-4	F	-	China	-	-	-	-	-	CCTRCT	Irregular nuclear cataract	CRYBA4	CRYBA4	1	1	LOVD
00383389	4_II-3	PubMed: Wang 2019	Family 4, individual II-3	M	-	China	-	-	-	-	-	CCTRCT	Irregular nuclear cataract	CRYBA4	CRYBA4	1	1	LOVD
00383390	5_III-2	PubMed: Wang 2019	Family 5, individual III-2	F	-	China	-	-	-	-	-	CCTRCT	Not determined Extensive opacification of the lens	WFS1	WFS1	1	1	LOVD
00383391	6_III-2	PubMed: Wang 2019	Family 6, individual III-2	F	-	China	-	-	-	-	-	CCTRCT	Round-shaped opacification in the middle of the le	CRYBA4	CRYBA4	1	1	LOVD
00384431	14490	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	CCTRCT	-	FBN1	FBN1	1	1	LOVD
00384478	14805	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	CCTRCT	-	FBN1	FBN1	1	1	LOVD

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Global Variome shared LOVD