Disease #01941 (biotinidase deficiency, OMIM:253260)

Official abbreviation	-
Name	biotinidase deficiency
OMIM ID	253260
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	195
Phenotype entries for this disease	93
Associated with 1 gene	BTD
Associated tissues	-
Disease features	biotinidase deficiency, a form of multiple carboxylase deficiency
Remarks	autosomal recessive, caused by homozygous or compound heterozygous variants
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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Cunha
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Yugoslavia
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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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195 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
00105944	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 43%	BTD	BTD	2	1	Jasper Saris
00105945	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 54%	BTD	BTD	1	1	Jasper Saris
00105946	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 80%	BTD	BTD	2	1	Jasper Saris
00105947	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 109%	BTD	BTD	1	1	Jasper Saris
00105948	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 84%	BTD	BTD	1	1	Jasper Saris
00105949	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 106%	BTD	BTD	1	1	Jasper Saris
00105950	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 56%	BTD	BTD	2	1	Jasper Saris
00105951	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 52%	BTD	BTD	1	1	Jasper Saris
00105952	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 44%	BTD	BTD	2	1	Jasper Saris
00105953	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 54%	BTD	BTD	2	1	Jasper Saris
00105954	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 61%	BTD	BTD	2	1	Jasper Saris
00105955	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 58%	BTD	BTD	2	1	Jasper Saris
00105956	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 87%	BTD	BTD	1	1	Jasper Saris
00105957	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 56%	BTD	BTD	1	1	Jasper Saris
00105958	-	PubMed: Wiltink 2016	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 17%	BTD	BTD	1	1	Jasper Saris
00105959	-	PubMed: Wiltink 2016	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 26%	BTD	BTD	2	1	Jasper Saris
00105960	-	PubMed: Wiltink 2016	-	-	-	-	-	-	-	-	-	biotinidase deficiency	enzyme activity: 29%	BTD	BTD	3	1	Jasper Saris
00105961	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105962	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105963	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105964	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105966	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105967	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105968	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105969	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105970	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105971	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105972	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105973	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105974	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105975	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105976	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105977	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105978	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105979	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105980	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105981	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105982	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105983	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105984	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00105985	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105986	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00105987	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105988	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105989	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105990	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105991	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105992	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105993	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105994	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105995	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105996	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105997	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105998	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00105999	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106000	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106001	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00106002	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106003	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106004	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106005	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106006	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106007	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106008	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00106009	09396567-Pat41	PubMed: Pomponio 1997	-	?	yes	Italy	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106010	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106011	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106012	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106013	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106014	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106015	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106016	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106017	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106018	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106019	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106020	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106021	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106022	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106023	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106024	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00106025	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106026	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106027	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106028	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106029	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106030	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106031	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106032	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106033	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106034	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106035	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00106036	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	multiple carboxylase deficiency	BTD	BTD	1	1	Jasper Saris
00106037	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106038	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106039	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106040	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106041	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00106042	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106043	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris
00106044	-	-	-	-	-	-	-	-	-	-	-	biotinidase deficiency	-	BTD	BTD	1	1	Jasper Saris

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Global Variome shared LOVD

COX7A2L (cytochrome c oxidase subunit VIIa polypept...)