Disease #01985 (GACR;OATD (atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))), OMIM:258870)

Official abbreviation	GACR;OATD
Name	atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))
OMIM ID	258870
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	144
Phenotype entries for this disease	143
Associated with 1 gene	OAT
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

Legend

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

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00059780	-	-	-	-	-	-	Turkey	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Eva Trevisson
00059781	-	-	-	-	-	Italy	Southern Italy	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Eva Trevisson
00059782	-	-	-	-	-	Italy	Southern Italy	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Eva Trevisson
00059783	-	-	1 familie, 2 patients	-	-	Italy	Southern Italy	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Eva Trevisson
00059784	-	-	-	-	-	United Kingdom (Great Britain)	England	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Eva Trevisson
00059785	-	-	-	-	-	-	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Eva Trevisson
00059786	-	-	-	-	-	Finland	Finnish	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Eva Trevisson
00059798	-	PubMed: Mitchell 1989	14 Finnish families	-	-	Finland	Finnish	-	-	-	-	GACR;OATD	-	OAT	OAT	1	14	Anne Polvi
00059799	-	PubMed: Mitchell 1989	Families: Fin 6 and Fin 14	-	-	Finland	Finnish	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059800	-	PubMed: Mitchell 1989	-	-	-	United States	American	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059801	-	PubMed: Ohkubo 2005	1 familie, 1 patient	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059802	Pat5	PubMed: Mashima 1992	-	-	-	Japan	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059803	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Iraq;Jewish	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059804	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Lebanese Maronite	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059805	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Finland	Finnish	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059806	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Finnish/American	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059807	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	West African	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059808	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	India	East Indian	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059809	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	German/American	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059810	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	English/German	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059811	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	France	French	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059812	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Portugal	Portugese	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059813	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059814	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Turkey	Turkish (Shephardic)	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059815	-	PubMed: Ramesh 1988	-	-	-	United States	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059816	-	PubMed: Ramesh 1988	-	-	-	United States	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059817	-	PubMed: Kobayashi et al.1995	1 familie, 1 patient	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059818	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059819	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059820	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059821	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059822	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059823	-	PubMed: Park 1992	-	-	-	Mexico	Mexican	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059824	-	PubMed: Mitchell 1991	-	-	-	Algeria	Algerian	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059825	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059826	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059827	-	PubMed: Doimo 2012	-	-	-	Turkey	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059828	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059829	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059830	-	PubMed: Doimo 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059831	-	PubMed: Michaud 1995	-	-	-	Italy	Italian	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059832	-	PubMed: Dietz 1993	-	-	-	-	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059833	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00059834	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060097	-	-	-	-	-	Greece	Greece	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Eva Trevisson
00060098	-	-	-	-	-	United Kingdom (Great Britain)	England	-	-	-	-	GACR;OATD	-	OAT	OAT	3	1	Eva Trevisson
00060099	-	-	-	-	-	United Kingdom (Great Britain)	England	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Eva Trevisson
00060100	-	-	-	-	-	-	white	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Eva Trevisson
00060118	-	PubMed: Park 1992	1 familie, 1 patient	-	-	-	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060121	Pat3	PubMed: Mashima 1992	-	-	-	England;Germany	-	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060122	Pat4	PubMed: Mashima 1992	-	-	-	Ireland;Italy;Netherlands	European	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060123	-	PubMed: Michaud 1992	1 familie, 1 patient	-	-	-	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060124	-	PubMed: Michaud 1992	1 familie, 1 patient	-	-	-	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060125	patient;Pat2	PubMed: Akaki 1992, PubMed: Mashima 1992	2-generation family, 1 affected	-	-	England;France;Germany;Netherlands	Europe	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060126	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060127	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060128	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060129	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Spain	Spanish	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060130	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060131	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Finland	Finnish	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060132	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	German/Italian	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060133	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Welsh	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060134	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Portugal	Portugese	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060135	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	German/Italian	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060136	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060137	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Jewish-Ashkenazi	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060138	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Hispanic (Nicaraguan)	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060139	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060140	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060141	-	PubMed: Park 1992	-	-	-	-	-	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060142	-	PubMed: Mashima 1992	2-generation family, 2 affected sisters	F	-	United States	-	-	-	-	-	GACR;OATD	-	OAT	OAT	2	2	Anne Polvi
00060143	-	PubMed: McClatchey 1990	-	-	-	-	Danish/Swedish	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060144	-	PubMed: Renner et al.2012	-	-	-	Germany	German	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060145	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060146	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060147	-	PubMed: Doimo 2012	-	-	-	Greece	-	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060148	-	PubMed: Doimo 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	OAT	OAT	3	1	Anne Polvi
00060149	-	PubMed: Michaud 1995	-	-	-	Australia	Australian	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060150	-	PubMed: Dietz 1993	-	-	-	-	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060151	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00060152	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060153	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060154	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060155	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	OAT	OAT	2	1	Anne Polvi
00060156	-	PubMed: Inana 1989	1 familie, 1 patient	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	Anne Polvi
00417538	7	PubMed: Mitchell 1988	sibling pair 1, individual 7	F	-	Lebanon	Lebanese Maronite	-	-	-	-	GACR;OATD	whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa	OAT	OAT	1	1	LOVD
00417539	16	PubMed: Mitchell 1988	sibling pair 1, individual 16	M	-	Lebanon	Lebanese Maronite	-	-	-	-	GACR;OATD	whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa	OAT	OAT	1	1	LOVD
00417540	25	PubMed: Mitchell 1988	sibling pair 2, individual 25	F	-	Lebanon	Lebanese Maronite	-	-	-	-	GACR;OATD	whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa	OAT	OAT	1	1	LOVD
00417541	26	PubMed: Mitchell 1988	sibling pair 2, individual 26	M	-	Lebanon	Lebanese Maronite	-	-	-	-	GACR;OATD	whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa	OAT	OAT	1	1	LOVD
00417542	3	PubMed: Hotta 1989	-	M	-	-	English	-	-	-	-	GACR;OATD	40y: visual acuity right, left eye: 20/40, 20/200; mild to moderate cataracts and maculopathy, both worse in the left eye; visual fields constricted to approximately 70deg of remaining field, measured horizontally; severity of disease was mild to moderate clinically; classified as a B6 nonresponder both by failure of serum ornithine levels to decrease after oral pyridoxine supplementation and by failure of pyridoxal phosphate to increase ornithine anminotransferase activity in vitro; clinical characteristics of the patient have been described in detail elsewhere (patient 4 of Weleber et al. [1982] and Weleber and Kennaway [1988])	OAT	OAT	1	1	LOVD
00417570	35	PubMed: Inana 1988	also patients 14, 15, 36 and 37 tested, but not sequenced, so no variants found	-	-	-	-	-	-	-	-	GACR;OATD	-	OAT	OAT	1	1	LOVD
00417583	patient 1	PubMed: Mashima 1999	sibship 1, patient 1	F	-	-	English/German/Scottish	-	-	-	-	GACR;OATD	pyridoxine HCI mg/day 0; serum omithine mg/day: 0.64 +/- 0.17; pyridoxine HCI mg/day 750; serum omithine mg/day: 0.34 +/- 0.10; OAT activity (nmol/mg protein/h): 14 +/- 5; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 54 +/- 20; 1.0mg/l pyridoxine in medium: 233 +/- 62; skin fibroblasts Km pyridoxal phosphate: 0.15; skin fibroblasts estimated OAT mRNA level (%): 100	OAT	OAT	2	1	LOVD
00417584	patient 2	PubMed: Mashima 1999	sibship 1, patient 2	F	-	-	English/German/Scottish	-	-	-	-	GACR;OATD	pyridoxine HCI mg/day 0; serum omithine mg/day: 0.57 +/- 0.02; pyridoxine HCI mg/day 600-750; serum omithine mg/day: 0.25 +/- 0.01; OAT activity (nmol/mg protein/h): 18+/- 4; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 31 +/- 11; 1.0mg/l pyridoxine in medium: 268 +/- 34; skin fibroblasts Km pyridoxal phosphate: 0.13; skin fibroblasts estimated OAT mRNA level (%): 100	OAT	OAT	2	1	LOVD
00417585	patient 3	PubMed: Mashima 1999	-	F	-	-	English/Scottish/Czech	-	-	-	-	GACR;OATD	pyridoxine HCI mg/day 0; serum omithine mg/day: 0.77 +/- 0.08; pyridoxine HCI mg/day 600-750; serum omithine mg/day: 0.34 +/- 0.07; OAT activity (nmol/mg protein/h): 21 +/- 8; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 74+/- 29; 1.0mg/l pyridoxine in medium: 237 +/- 33; skin fibroblasts Km pyridoxal phosphate: 0.08; skin fibroblasts estimated OAT mRNA level (%): 50	OAT	OAT	2	1	LOVD
00417586	patient 4	PubMed: Mashima 1999	patient 4 (patient 6 in Weleber et al., 1982 and Shih et al., 1988)	F	-	-	Irish	-	-	-	-	GACR;OATD	pyridoxine HCI mg/day 0; serum omithine mg/day: 0.53 +/- 0.08; not available for the clinical trial of pyridoxine supplementation; OAT activity (nmol/mg protein/h): 48 +/- 12; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 76 +/- 9; 1.0mg/l pyridoxine in medium: 482 +/- 91; skin fibroblasts Km pyridoxal phosphate: 0.31; skin fibroblasts estimated OAT mRNA level (%): 100	OAT	OAT	1	1	LOVD
00417588	1	PubMed: Peltola 2001	-	M	-	-	-	-	-	-	-	GACR;OATD	age when first spectacles were ordered: y; plasma ornithine concentration (um): 1696; best corrected visual acuity right/left eye: 0.8 / 0.8; refraction right / left eye: 0 / 0; fundus findings right / left eye: papilla: normal / normal; macula: normal / normal; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: peripheral atrophy / peripheral atrophy	OAT	OAT	1	1	LOVD
00417589	2	PubMed: Peltola 2001	-	F	-	-	-	-	-	-	-	GACR;OATD	age when first spectacles were ordered: 4y; plasma ornithine concentration (um): 871; best corrected visual acuity right/left eye: / ; refraction right / left eye: -2.5 / -2.5; fundus findings right / left eye: papilla: normal / normal; macula: normal / normal; vessels: normal / normal; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: peripheral atrophy / peripheral atrophy	OAT	OAT	1	1	LOVD
00417590	3	PubMed: Peltola 2001	-	M	-	-	-	-	-	-	-	GACR;OATD	age when first spectacles were ordered: 3y; plasma ornithine concentration (um): 183; best corrected visual acuity right/left eye: 0.4 / 0.6; refraction right / left eye: -4 / -5; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: pathologic / pathologic; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / peripheral atrophy	OAT	OAT	1	1	LOVD
00417591	4	PubMed: Peltola 2001	-	F	-	-	-	-	-	-	guanidinoacetic acid supplementation	GACR;OATD	age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 2601; best corrected visual acuity right/left eye: / ; refraction right / left eye: -3.5 / -3.5; fundus findings right / left eye: papilla: normal / normal; macula: normal / normal; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / midperipheral atrophy	OAT	OAT	1	1	LOVD
00417592	5	PubMed: Peltola 2001	-	F	-	-	-	-	-	-	-	GACR;OATD	age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 678; best corrected visual acuity right/left eye: 0.4 / 0.15; refraction right / left eye: -2.75 / -2.5; fundus findings right / left eye: papilla: normal / normal; macula: severely pathologic / severely pathologic; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / peripheral atrophy	OAT	OAT	1	1	LOVD

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Global Variome shared LOVD

C10orf32 (chromosome 10 open reading frame 32)