Disease #03712 (APRTD (adenine phosphoribosyltransferase deficiency (APRTD)), OMIM:614723)

Official abbreviation	APRTD
Name	adenine phosphoribosyltransferase deficiency (APRTD)
OMIM ID	614723
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	135
Phenotype entries for this disease	102
Associated with 1 gene	APRT
Associated tissues	-
Disease features	-
Remarks	Type I deficiency (complete enzyme deficiency), Type II deficiency (complete deficiency in vivo but partial deficiency in cell extracts)
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2020-10-19 12:17:08 +02:00 (CEST)

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

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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
00263054	SL4752	-	-	F	?	Italy	-	65y	-	-	kidney transplant	APRTD	HP:0003774	APRT	APRT	1	1	Daniela Francesca Giachino
00263055	SL4569	-	-	F	?	Italy	-	73y	-	-	kidney transplant	APRTD	HP:0003774	APRT	APRT	1	1	Daniela Francesca Giachino
00263056	Fam1	PubMed: Bollee 2010	family, 1 affected	-	-	-	(France)	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263057	Fam2	PubMed: Bollee 2010	family, 2 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	1	2	Johan den Dunnen
00263058	Fam3	PubMed: Bollee 2010	family, 2 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	2	2	Johan den Dunnen
00263059	Fam4	PubMed: Bollee 2010	family, 1 affected	-	-	-	Turkey	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263060	Fam5	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00263061	Fam6	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00263062	Fam7	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00263063	Fam8	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263064	Fam9	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00263065	Fam10	PubMed: Bollee 2010	family, 2 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	1	2	Johan den Dunnen
00263066	Fam11	PubMed: Bollee 2010	family, 3 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	1	3	Johan den Dunnen
00263067	Fam12	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00263068	Fam13	PubMed: Bollee 2010	family, 1 affected	-	-	-	Poland	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263069	Fam14	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00263070	Fam15	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00263071	Fam16	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00263072	Fam17	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263073	Fam18	PubMed: Bollee 2010	family, 3 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	2	3	Johan den Dunnen
00263074	Fam19	PubMed: Bollee 2010	family, 1 affected	-	-	-	Morocco	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263075	Fam20	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00263076	Fam21	PubMed: Bollee 2010	family, 1 affected	-	-	-	Senegal	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263077	Fam22	PubMed: Bollee 2010	family, 1 affected	-	-	-	Spain	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263078	Fam23	PubMed: Bollee 2010	family, 1 affected	-	-	-	Lebanon	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263079	Fam24	PubMed: Bollee 2010	family, 1 affected	-	-	-	Portugal	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263080	Fam25	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263081	Fam26	PubMed: Bollee 2010	family, 1 affected	-	-	-	Italy	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263082	Fam27	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263083	Fam28	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263084	Fam29	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00263085	Fam30	PubMed: Bollee 2010	family, 1 affected	-	-	-	Martinique	-	-	-	-	APRTD	-	APRT	-	-	1	Johan den Dunnen
00263086	Fam31	PubMed: Bollee 2010	family, 1 affected	-	-	-	France	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301005	Pat904/905	PubMed: Hidaka 1987	2-generation family, 2 affected brothers, unaffected parents	M	-	Belgium	-	-	-	-	-	APRTD	complete APRT deficient	APRT	APRT	2	2	Johan den Dunnen
00301006	WR2	PubMed: Hidaka 1988	-	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00301007	WR15	PubMed: Mimori 1991	-	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00301008	WR10	PubMed: Mimori 1991	-	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301009	WR128	PubMed: Mimori 1991	-	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301010	WR158	PubMed: Mimori 1991	-	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301011	ASA1	PubMed: Sahota 1990	-	M	yes	Japan	-	-	-	-	-	APRTD	TypeI deficiency	APRT	APRT	2	1	Johan den Dunnen
00301012	TAK2	PubMed: Sahota 1990	-	M	no	Japan	-	-	-	-	-	APRTD	typeII deficiency	APRT	APRT	3	1	Johan den Dunnen
00301013	SEM1	PubMed: Sahota 1994	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Hungary	-	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00301014	FamPatSF/BB	PubMed: Sahota 1994	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives	F	-	Canada	-	-	-	-	-	APRTD	see paper; ...	APRT	APRT	1	2	Johan den Dunnen
00301015	WR182	PubMed: Kamatani 1992	-	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301016	-	PubMed: Kamatani 1992	43 unrelated cases	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	1	43	Johan den Dunnen
00301017	-	PubMed: Kamatani 1992	7 unrelated cases	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	2	7	Johan den Dunnen
00301018	-	PubMed: Kamatani 1992	-	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00301019	-	PubMed: Kamatani 1992	11 unrelated cases	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	1	11	Johan den Dunnen
00301020	-	PubMed: Kamatani 1992	3 unrelated cases	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	1	3	Johan den Dunnen
00301021	-	PubMed: Kamatani 1992	-	-	-	-	-	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00301022	-	PubMed: Kamatani 1992	2 unrelated cases	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	1	2	Johan den Dunnen
00301023	-	PubMed: Kamatani 1992	-	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301024	-	PubMed: Higashimoto 1995	analysis 6 cases not carrying known variantsjap	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	1	2	Johan den Dunnen
00301025	-	PubMed: Higashimoto 1995	analysis 6 cases not carrying known variants	-	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00301026	AW/SW	PubMed: Gathof 1990, PubMed: Chen 1993	2-generation family, 2 affected twin brothers, unaffected heterozygous carrier parents/relatives	M	-	Germany	-	-	-	-	-	APRTD	type I deficiency; renal colic and discharge of stones caused by excessive urolithiasis	APRT	APRT	1	2	Johan den Dunnen
00301027	FIC/PatA	PubMed: Chen 1993, PubMed: Menardi 1997	-	-	-	Austria	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301028	RAZ	PubMed: Chen 1993	-	-	-	Iraq	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301029	MAH	PubMed: Chen 1993	-	-	-	Pakistan	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301030	BRO	PubMed: Chen 1993	-	-	-	United States	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301031	FamPatVI-HH	PubMed: Chen 1991	7-generation family, 3 affected (2F, M)	M	-	Iceland	-	-	-	-	-	APRTD	-	APRT	APRT	1	3	Johan den Dunnen
00301032	FamPatVII-AJ	PubMed: Chen 1991	-	F	-	Iceland	-	-	-	-	-	APRTD	10y-recurrent urinary-tract infections; 23y-first renal colic, recurrent attacks since then; 29y-bilateral nephrolithotomy	APRT	APRT	1	1	Johan den Dunnen
00301033	FamPatVII-HS	PubMed: Chen 1991	-	F	-	Iceland	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301034	PJ	PubMed: Chen 1991	-	F	-	Iceland	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301035	HE	PubMed: Chen 1991	-	F	-	Iceland	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301036	SB	PubMed: Chen 1991	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301037	PatA	PubMed: Taniguchi 2004	-	M	-	Japan	-	-	-	-	-	APRTD	20y-passing a number of urolithiasis, chronic renal failure	APRT	APRT	1	1	Johan den Dunnen
00301038	PatB	PubMed: Taniguchi 2004	-	M	-	Japan	-	-	-	-	-	APRTD	hydronephrosis left kidney due to ureteral stones, shock wave lithotripsy performed	APRT	APRT	1	1	Johan den Dunnen
00301039	PatC	PubMed: Taniguchi 2004	-	M	-	Japan	-	-	-	-	-	APRTD	passed a urolithiasis; ultrasonographic examination demonstrated many small stones both kidneys	APRT	APRT	2	1	Johan den Dunnen
00301040	SY	PubMed: Taniguchi 1998	-	M	-	Japan	-	-	-	-	-	APRTD	see paper; ...	APRT	APRT	1	1	Johan den Dunnen
00301041	-	PubMed: Deng 2001	-	M	-	Poland	Poland;Germany	-	-	-	-	APRTD	see paperp; ..., since birth passing large number of yellowish-red stones some as large a peas	APRT	APRT	2	1	Johan den Dunnen
00301075	patient	PubMed: Nozue 2011	-	M	-	Japan	-	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00301076	patient	PubMed: Di Pietro 2007	-	M	-	Italy	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301077	Pat1/2	PubMed: Perruzza 2008	2-generation family, 2 affected nephews, unaffected heterozygous carrier parents/relatives	M	-	Italy	-	-	-	-	-	APRTD	-	APRT	APRT	1	1	Johan den Dunnen
00301078	PatB	PubMed: Menardi 1997	-	-	-	Austria	-	-	-	-	-	APRTD	-	APRT	APRT	2	1	Johan den Dunnen
00301101	PatAP	PubMed: Marra 2012	2-generation family, 2 affected sisters, unaffected heterozygous carrier father/relatives	M	no	Italy	-	-	-	-	-	APRTD	see paper; ...	APRT	APRT	2	1	Johan den Dunnen
00301102	Pat1	PubMed: Edvardsson 2001	-	F	-	Iceland	-	-	-	-	-	APRTD	renalcolic, urinary tract infection; serum creatinine at diagnosis 0.6 (mg/dL), serum creatinine latest 0.8 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301103	Pat2	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis; serum creatinine at diagnosis 1.3 (mg/dL), serum creatinine latest 0.9 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301104	Pat3	PubMed: Edvardsson 2001	-	F	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis; serum creatinine at diagnosis 1.4 (mg/dL), serum creatinine latest 1.0 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301105	Pat4	PubMed: Edvardsson 2001	-	F	-	Iceland	-	-	-	-	-	APRTD	incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.6 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301106	Pat5	PubMed: Edvardsson 2001	-	F	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis; serum creatinine at diagnosis 1.0 (mg/dL), serum creatinine latest 0.8 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301107	Pat6	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	diaper stain; serum creatinine at diagnosis 0.4 (mg/dL), serum creatinine latest 0.5 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301108	Pat7	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis, acute renal failure; serum creatinine at diagnosis 1.6 (mg/dL), serum creatinine latest 1.0 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301109	Pat8	PubMed: Edvardsson 2001	-	F	-	Iceland	-	-	-	-	-	APRTD	incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.8 (mg/dL), serum creatinine latest 0.8 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301110	Pat9	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis; serum creatinine at diagnosis 1.2 (mg/dL), serum creatinine latest 1.1 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301111	Pat10	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.5 (mg/dL), serum creatinine latest 0.7 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301112	Pat11	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	detected during family screening; serum creatinine latest 1.0 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301113	Pat12	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	detected during family screening; serum creatinine at diagnosis 0.5 (mg/dL), serum creatinine latest 0.5 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301114	Pat13	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis; serum creatinine at diagnosis 0.4 (mg/dL), serum creatinine latest 0.5 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301115	Pat14	PubMed: Edvardsson 2001	-	F	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis; serum creatinine at diagnosis 1.1 (mg/dL), serum creatinine latest 0.9 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301116	Pat15	PubMed: Edvardsson 2001	-	F	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis; serum creatinine at diagnosis 0.7 (mg/dL), serum creatinine latest 0.9 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301117	Pat16	PubMed: Edvardsson 2001	-	F	-	Iceland	-	-	-	-	-	APRTD	chronic renal failure; serum creatinine at diagnosis 12.4 (mg/dL), serum creatinine latest 2.0 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301118	Pat17	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis, acute renal failure; serum creatinine at diagnosis 1.8 (mg/dL), serum creatinine latest 1.5 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301119	Pat18	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 10.2 (mg/dL), serum creatinine latest 1.6 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301120	Pat19	PubMed: Edvardsson 2001	-	F	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis, acute renal failure; serum creatinine at diagnosis 0.9 (mg/dL), serum creatinine latest 0.4 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301121	Pat20	PubMed: Edvardsson 2001	-	F	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 6.4 (mg/dL), serum creatinine latest 4.6 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301122	Pat21	PubMed: Edvardsson 2001	-	F	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis; serum creatinine at diagnosis 0.9 (mg/dL), serum creatinine latest 1.0 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301123	Pat22	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 3.2 (mg/dL), serum creatinine latest 1.7 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301124	Pat23	PubMed: Edvardsson 2001	-	M	-	Iceland	-	-	-	-	-	APRTD	nephrolithiasis, chronic renal failure, death; serum creatinine at diagnosis 4.1 (mg/dL), serum creatinine latest 21.0 (mg/dL)	APRT	APRT	1	1	Johan den Dunnen
00301125	patient	PubMed: Ceballos-Picot 2018	-	M	-	India	-	-	-	-	-	APRTD	see paper; ...	APRT	APRT	1	1	Johan den Dunnen
00301128	patient	PubMed: Micheli 2010	-	M	-	Italy	white	-	-	-	-	APRTD	see paper; ..., renal failure; 17y-history of recurrent renal staghorn lithiasis on both sides, revealed by ultrasonography	APRT	APRT	1	1	Johan den Dunnen

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Global Variome shared LOVD

HYLS1 (hydrolethalus syndrome 1)