Disease #01663 (argininosuccinic aciduria, OMIM:207900)

Official abbreviation	-
Name	argininosuccinic aciduria
OMIM ID	207900
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	44
Phenotype entries for this disease	6
Associated with 1 gene	ASL
Associated tissues	-
Disease features	autosomal recessive
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

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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
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? (unknown)
- (not applicable)
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Yemen
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Yugoslavia
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Zaire
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Zambia
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Zimbabwe
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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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\|	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
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>=	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
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
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Example	Matches
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44 entries on 1 page. Showing entries 1 - 44.

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
00080936	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	argininosuccinic aciduria	Argininosuccinic aciduria (OMIM:207900)	ASL	ASL	1	1	Daniel Trujillano
00108488	-	-	-	-	-	-	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108489	-	-	-	M	-	Morocco	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108490	-	-	-	-	-	Poland	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108491	-	-	-	M	-	Italy	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108492	-	-	-	-	-	-	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108493	-	-	-	-	-	-	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108494	-	-	-	-	yes	-	-	-	-	-	-	argininosuccinic aciduria	late-onset	ASL	ASL	2	1	Johan den Dunnen
00108496	-	-	-	F	-	Netherlands	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108497	-	-	-	M	-	Germany	Egyptian	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108498	-	-	-	-	-	-	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108499	-	-	-	F	-	-	Arabic	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108500	-	-	-	F	-	-	Arabic	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108501	-	-	-	F	-	-	Arabic	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108502	-	-	-	F	-	Turkey	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108503	-	-	-	F	-	Netherlands	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108504	-	-	-	F	-	Netherlands	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108505	-	-	-	M	-	Netherlands	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108506	-	-	-	F	-	Bulgaria	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108507	-	-	-	M	-	China	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108508	-	-	-	M	-	Czech Republic	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108509	-	-	-	M	-	Netherlands	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108510	-	-	-	F	-	Netherlands	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108511	-	-	-	M	-	Netherlands	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108512	-	-	-	M	-	Netherlands	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108513	-	-	-	M	-	Netherlands	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108514	-	-	-	M	-	China	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108515	-	-	-	M	-	Spain	Gypsy	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108518	-	-	-	M	-	Italy	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108519	-	-	-	-	-	-	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108522	-	-	-	M	-	Turkey	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108524	-	-	-	-	yes	-	-	-	-	-	-	argininosuccinic aciduria	neonatal-onset	ASL	ASL	2	1	Johan den Dunnen
00108525	-	-	-	-	yes	-	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108526	-	-	-	-	-	-	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108528	-	-	-	-	-	Turkey	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108529	-	-	-	F	-	Belgium	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108532	-	-	-	-	-	Turkey	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108533	-	-	-	M	-	Israel	Arabic	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108535	-	-	-	M	-	Lebanon	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108536	-	-	-	M	-	Finland	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108541	-	-	-	M	-	Israel	Arabic	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00108542	-	-	-	-	-	-	-	-	-	-	-	argininosuccinic aciduria	-	ASL	ASL	2	1	Johan den Dunnen
00248293	Fam11	PubMed: Häberle and Koch 2004	prenatal diagnosis, fetus affected	-	-	-	Druze	-	-	-	-	argininosuccinic aciduria	see paper; …	ASL	ASL	1	1	Johan den Dunnen
00248294	Fam12	PubMed: Häberle and Koch 2004	prenatal diagnosis, fetus not affected	-	-	Kuwait	-	-	-	-	-	argininosuccinic aciduria	see paper; …	ASL	ASL	1	1	Johan den Dunnen

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Global Variome shared LOVD