Disease #02923 (ASGD2 (dysgenesis, anterior segment, type 2 (ASGD-2, aphakia, congenital primary)), OMIM:610256)

Official abbreviation	ASGD2
Name	dysgenesis, anterior segment, type 2 (ASGD-2, aphakia, congenital primary)
OMIM ID	610256
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	13
Phenotype entries for this disease	13
Associated with 1 gene	FOXE3
Associated tissues	-
Disease features	-
Remarks	autosomal recessive
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
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Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
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Aruba
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Australia
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Austria
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Azerbaijan
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Bahamas
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Bahrain
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Bangladesh
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Barbados
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Belarus
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Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
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Bhutan
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Bolivia
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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
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East Timor
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Ecuador
(Ecuador)
Egypt
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El Salvador
(El Salvador)
England
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Equatorial Guinea
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Eritrea
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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
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Greece
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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
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Hong Kong
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Hungary
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Iceland
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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
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Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
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Marshall Islands
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Martinique
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Mauritania
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Mauritius
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Mayotte
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Mexico
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Micronesia
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Moldova
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Monaco
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Mongolia
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Montserrat
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Morocco
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Mozambique
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Myanmar
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Namibia
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Nauru
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Nepal
(Nepal)
Netherlands
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Netherlands Antilles
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Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
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New Zealand
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Nicaragua
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Niger
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Nigeria
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Niue
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Norfolk Island
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Northern Ireland
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Northern Mariana Islands
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Norway
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Oman
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Pakistan
(Pakistan)
Palau
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Palestine
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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.

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13 entries on 1 page. Showing entries 1 - 13.

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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
00064992	-	PubMed: Valleix 2006	3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents	F;M	yes	France	-	-	-	-	-	ASGD2	congenital primary aphasia as primary phenotype, aplasia of the anterior segment of the eye, iris absent, microphthalmia, retinal dysplasia	FOXE3	FOXE3	1	3	Deepti Anand
00064993	-	PubMed: Iseri 2009, Journal: Iseri 2009	7-generation family, 6 affecteds (F, 5M), unaffected hetereozygous carrier parents	F;M	yes	Pakistan	-	-	-	-	-	ASGD2	congenital primary aphasia, glaucoma, microcornea, Peters anomaly, sclerocornea	FOXE3	FOXE3	1	6	Deepti Anand
00064994	-	PubMed: Iseri 2009, Journal: Iseri 2009	4-generation family, 3 affecteds (F, 2M), unaffected hetereozygous carrier parents	F;M	yes	Pakistan	-	-	-	-	-	ASGD2	congenital primary aphakia, microphthalmia, corneal opacity, iris absent	FOXE3	FOXE3	1	3	Deepti Anand
00064995	-	PubMed: Iseri 2009, Journal: Iseri 2009	2-generation family, 5 affecteds (4F, M)	F;M	-	Pakistan	-	-	-	-	-	ASGD2	congenital cataract and primary aphasia, coloboma, microphthalmia, sclerocornea, Peters anomaly	FOXE3	FOXE3	1	5	Deepti Anand
00064997	-	PubMed: Ali 2010	8-generation family, 7 affecteds (3F, 4M), unaffected heterozygous carrier parents/sibs	F;M	yes	Pakistan	-	-	-	-	-	ASGD2	congenital primary aphasia, microphthalmia, sclerocornea	FOXE3	FOXE3	1	7	Deepti Anand
00064999	-	PubMed: Ali 2010	6-generation family, 9 affecteds (4F, 5M), unaffected heterozygous carrier parents/sibs	F;M	yes	Mexico	Mexican, Tlaxcala	-	-	-	-	ASGD2	congenital primary aphakia, microphthalmia, sclerocornea	FOXE3	FOXE3	1	9	Deepti Anand
00065000	-	PubMed: Anjum 2010	6-generation family, 5 affecteds (5F), unaffected hetereozygous carrier parents/sibs	F	yes	Pakistan	-	-	-	-	-	ASGD2	congenital primary aphakia	FOXE3	FOXE3	1	5	Deepti Anand
00065011	-	PubMed: Ullah 2016	6-generation family, 6 affecteds (3F, 3M), unaffected hetereozygous carrier parents	F;M	yes	Pakistan	-	-	-	-	-	ASGD2	congenital primary aphakia, anophthalmia, corneal opacity	FOXE3	FOXE3	1	6	Deepti Anand
00065013	-	PubMed: Ullah 2016	6-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents	F;M	yes	Pakistan	-	-	-	-	-	ASGD2	see paper; ...,	FOXE3	FOXE3	1	4	Johan den Dunnen
00468529	family	PubMed: Doucette 2011	4-generation family, 11 affected (3F, 8M)	F;M	-	Canada	-	-	-	-	-	ASGD2	see paper; ..., anterior segment dysgenesis, Peters anomaly	FOXE3	FOXE3	1	11	Johan den Dunnen
00468563	Pat1	PubMed: Islam 2015	2-generation family, 1 affected, unaffected carrier mother	-	yes	United Kingdom (Great Britain)	Pakistan	-	-	-	-	ASGD2	see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma; iridocorneal adhesion	FOXE3	FOXE3	1	1	Johan den Dunnen
00468564	Pat2	PubMed: Islam 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	yes	United Kingdom (Great Britain)	India	-	-	-	-	ASGD2	see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma	FOXE3	FOXE3	1	1	Johan den Dunnen
00468565	Pat3	PubMed: Islam 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	ASGD2	see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma	FOXE3	FOXE3	2	1	Johan den Dunnen

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