Disease #01052 (MTDPS1 (mitochondrial DNA depletion syndrome, type 1 (MTDPS-1, MNGIE type)), OMIM:603041)

Official abbreviation	MTDPS1
Name	mitochondrial DNA depletion syndrome, type 1 (MTDPS-1, MNGIE type)
OMIM ID	603041
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	39
Phenotype entries for this disease	39
Associated with 1 gene	TYMP
Associated tissues	-
Disease features	onset second to fifth decades, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, thin body habitus, peripheral neuropathy, myopathy, leukoencephalopathy, lactic acidosis
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2026-09-11 15:36:51 +02:00 (CEST)

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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Australia
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Austria
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Azerbaijan
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Bahrain
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Bangladesh
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Belarus
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Belgium
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Belize
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Benin
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Bermuda
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Bhutan
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Bolivia
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Bosnia and Herzegovina
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Botswana
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Bouvet Island
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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
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Cayman Islands
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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
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Denmark
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Djibouti
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Dominica
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Dominican Republic
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East Timor
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Ecuador
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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
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Ethiopia
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Falkland Islands (Malvinas)
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Faroe Islands
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Fiji
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Finland
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France
(France)
Gabon
(Gabon)
Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Greece
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Greenland
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Grenada
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Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
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Heard and McDonald Islands
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
(Iraq)
Ireland
(Ireland)
Israel
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Italy
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Jamaica
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Japan
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Jordan
(Jordan)
Kazakhstan
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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
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Lebanon
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Martinique
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Micronesia
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Moldova
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Morocco
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Myanmar
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Namibia
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New Zealand
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Niue
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Norway
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Oman
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Palau
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Panama
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Paraguay
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Peru
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Philippines
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Pitcairn
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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
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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
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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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=""	Text	="p.0"	all entries exactly matching 'p.0'
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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
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Example	Matches
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39 entries on 1 page. Showing entries 1 - 39.

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
00250187	-	-	-	F	no	United States	-	-	-	-	-	MTDPS1	Elevated thymidine, ptosis, PEO, peripheral neuropathy	TYMP	TYMP	2	1	Kimberly Kripps
00250188	-	-	-	M	no	United States	Navajo	-	-	-	-	MTDPS1	Elevated thymidine, liver cirrhosis and failure, hearing loss	TYMP	TYMP	1	1	Kimberly Kripps
00250189	-	-	-	F	?	United States	-	-	-	-	-	MTDPS1	severe gastrointestinal dysmotility, fatigue, weakness, extremity paresthesias	TYMP	TYMP	1	1	Kimberly Kripps
00250190	-	-	-	M	?	United States	-	-	-	-	-	MTDPS1	demyelinating neuropathy, liver cirrhosis, gastric dysmotility	TYMP	TYMP	1	1	Kimberly Kripps
00484590	-	-	-	F	no	Malaysia	-	-	-	-	-	MTDPS1	-	TYMP	TYMP	1	1	Mohd Khairul Nizam Mohd Khalid
00484677	Pat1	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	jew-Ashkenazi	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484678	Pat2	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	Germany	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	2	1	Johan den Dunnen
00484679	Pat3	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Puerto Rico	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484680	Pat4	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Jamaica	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	2	1	Johan den Dunnen
00484681	Pat5	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Israel	jew;Iran	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484682	Pat6	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Puerto Rico	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484683	Pat7	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Germany	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	2	1	Johan den Dunnen
00484684	Pat8	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	United States	Germany	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	2	1	Johan den Dunnen
00484685	Pat9	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	Canada	white;Germany	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	2	1	Johan den Dunnen
00484686	Pat10	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	United States	Europe	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	2	1	Johan den Dunnen
00484687	Pat11	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	2	1	Johan den Dunnen
00484688	Pat12	PubMed: Nishino 1999, PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484689	Pat13	PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	Greece	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484690	Pat14	PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	United States	Europe;white	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	2	1	Johan den Dunnen
00484691	Pat15	PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	Belgium	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484692	Pat16	PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	Portugal	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484693	Pat17	PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	Italy	Sicily	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484694	Pat18	PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	Dominican Republic	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484695	Pat19	PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	Japan	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484696	Pat20	PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	Switzerland	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484697	Pat21	PubMed: Nishino 2000	2-generation family, 1 affected, unaffected parents	-	-	Italy	-	-	-	-	-	MTDPS1	no details provided	TYMP	TYMP	1	1	Johan den Dunnen
00484698	FamPatIII2/4	PubMed: Gamez 2002	3-generation family, 2 affected sister, unaffected heterozygous carrier parents/relatives	F	-	Spain	-	-	-	-	-	MTDPS1	see paper; ..., ophthalmoparesis/mitochondrial neurogastrointestinal encephalomyopathy	TYMP	TYMP	1	1	Johan den Dunnen
00484699	patient	PubMed: Szigeti 2004	2-generation family, 1 affected, unaffected parents	M	-	United States	white	-	-	-	-	MTDPS1	see paper; ...	TYMP	TYMP	1	1	Johan den Dunnen
00484700	Pat1	PubMed: Marti 2005	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United States	United Kingdom (Great Britain)	-	-	-	-	MTDPS1	see paper; ...	TYMP	TYMP	2	1	Johan den Dunnen
00484701	Pat2	PubMed: Marti 2005	2-generation family, 1 affected, unaffected parents	F	-	Netherlands	-	-	-	-	-	MTDPS1	see paper; ...	TYMP	TYMP	2	1	Johan den Dunnen
00484702	Pat3	PubMed: Marti 2005	2-generation family, 1 affected, unaffected parents	M	-	United States	United Kingdom (Great Britain)	-	-	-	-	MTDPS1	see paper; ...	TYMP	TYMP	2	1	Johan den Dunnen
00484703	patient	PubMed: Ginsberg 2007	2-generation family, 1 affected, unaffected heterozygous carrier parents/	F	-	United Kingdom (Great Britain)	-	-	-	-	-	MTDPS1	-	TYMP	TYMP	2	1	Johan den Dunnen
00484704	patient	PubMed: Taanman 2009	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	MTDPS1	-	TYMP	TYMP	2	1	Johan den Dunnen
00484705	Fam1Pat1	PubMed: Mojtabavi 2021	4-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	yes	Iran	-	-	-	-	-	MTDPS1	see paper; ...	TYMP	TYMP	1	2	Johan den Dunnen
00484706	Fam1Pat2	PubMed: Mojtabavi 2021	3-generation family, 1 affected, unaffected parents	M	yes	Iran	-	-	-	-	-	MTDPS1	see paper; ...	TYMP	TYMP	1	1	Johan den Dunnen
00484707	FamPat3	PubMed: Mojtabavi 2021	3-generation family, 1 affected, unaffected parents	F	yes	Iran	-	-	-	-	-	MTDPS1	see paper; ...	TYMP	TYMP	1	1	Johan den Dunnen
00484708	FamPat4	PubMed: Mojtabavi 2021	3-generation family, 3 affected sisters, unaffected parents	F	-	Iran	-	-	-	-	-	MTDPS1	see paper; ...	TYMP	TYMP	1	3	Johan den Dunnen
00484709	FamPat5	PubMed: Mojtabavi 2021	3-generation family, 1 affected, unaffected parents	F	-	Iran	-	-	-	-	-	MTDPS1	see paper; ...	TYMP	TYMP	1	1	Johan den Dunnen
00484710	FamPat6	PubMed: Mojtabavi 2021	3-generation family, 1 affected, unaffected parents	M	yes	Iran	-	-	-	-	-	MTDPS1	see paper; ...	TYMP	TYMP	1	1	Johan den Dunnen

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Global Variome shared LOVD

OAZ3 (ornithine decarboxylase antizyme 3)