ORPHA:99960

Benign recurrent intrahepatic cholestasis type 1

Synonyms: BRIC type 1 · BRIC1

This disease is described under Benign recurrent intrahepatic cholestasis

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Benign recurrent intrahepatic cholestasis type 1	BRIC type 1 · BRIC1
fr	Cholestase intrahépatique récurrente bénigne type 1	= en
de	Cholestase, benigne intrahepatische, rekurrente, Typ 1	BRIC Typ 1 · BRIC1
es	Colestasis intrahepática recurrente benigna tipo 1	BRIC tipo 1 · BRIC1
it	Colestasi intraepatica ricorrente benigna, tipo 1	BRIC, tipo 1 · BRIC1
nl	Goedaardige recidiverende intrahepatische cholestase type 1	= en
pt	Colestase intrahepática benigna, tipo 1
pl	Łagodna nawracająca cholestaza wewnątrzwątrobowa typu 1	BRIC typu 1 · BRIC1
cs	Benigní rekurentní intrahepatální cholestáza, typ 1	BRIC typ 1 · BRIC1
uk	Доброякісний рецидивуючий внутрішньопечінковий холестаз, тип 1	BRIC тип 1 · BRIC1
zh	良性复发性肝内胆汁淤积1型	BRIC1型
tr	Selim tekrarlayan intrahepatik kolestaz tip 1	BRIC1 · BRIC tip 1

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	243300	E		validated
ICD-10	K83.1	NTBT	attributed	validated
ICD-11	5C58.04	NTBT	index	validated
MONDO	0009469	E		validated
UMLS	C4551899	E		validated
GARD	10028	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:65682Benign recurrent intrahepatic cholestasis
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ATP8B1	Disease-causing germline mutation(s) in	Assessed	HGNC:3706	ENSG00000081923	602397	18q21.31	ATPase phospholipid transporting 8B1

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.