Disease #02044 (Pyruvate carboxylase deficiency, OMIM:266150)

Official abbreviation	-
Name	Pyruvate carboxylase deficiency
OMIM ID	266150
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	3
Phenotype entries for this disease	3
Associated with 1 gene	PC
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

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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
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Bulgaria
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Cunha
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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.

How to query this table

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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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
>	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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3 entries on 1 page. Showing entries 1 - 3.

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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
00080981	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	Pyruvate carboxylase deficiency	Pyruvate carboxylase deficiency (OMIM:266150)	PC	PC	1	1	Daniel Trujillano
00213143	Pat5	PubMed: Coci 2019, Journal: Coci 2019	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	no	-	-	-	-	-	-	Pyruvate carboxylase deficiency	see paper; ...	PC	PC	2	2	Emanuele Coci
00218072	Pat6	PubMed: Coci 2019, Journal: Coci 2019	younger brother	M	no	-	-	-	-	-	-	Pyruvate carboxylase deficiency	see paper; ...	PC	PC	2	1	Emanuele Coci

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How to query

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