Cholestasis, Benign Recurrent Intrahepatic, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHL118 MIFTS: 25	Cholestasis, Benign Recurrent Intrahepatic, 2 Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Reproductive diseases, Gastrointestinal diseases, Endocrine diseases
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Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 2

MalaCards integrated aliases for Cholestasis, Benign Recurrent Intrahepatic, 2:

Name: Cholestasis, Benign Recurrent Intrahepatic, 2 ⁵⁷ ⁷⁵ ¹³

Bric2 ⁵⁷ ⁵³ ⁵⁹ ⁷⁵

Benign Recurrent Intrahepatic Cholestasis 2 ⁵³ ²⁹ ⁶

Cholestasis, Benign Recurrent Intrahepatic 2 ⁵³ ⁷³

Cholestasis, Intrahepatic, Recurrent, Benign, Type 2 ⁴⁰

Benign Recurrent Intrahepatic Cholestasis Type 2 ⁵⁹

Recurrent Familial Intrahepatic Cholestasis 2 ⁵³

Mild Abcb11 Deficiency ⁵³

Bric Type 2 ⁵⁹

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
onset in first 2 decades
precipitating factors include viral illness and pregnancy
allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, )

HPO:

³²

cholestasis, benign recurrent intrahepatic, 2:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases Reproductive diseases Gastrointestinal diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the digestive system

Disorders of gallbladder, biliary tract and pancreas

Other diseases of biliary tract

Obstruction of bile duct

Orphanet: ⁵⁹

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 605479

Orphanet ⁵⁹ ORPHA99961

UMLS via Orphanet ⁷⁴ C3489789 C2608083

MESH via Orphanet ⁴⁵ C535931

ICD10 via Orphanet ³⁴ K83.1

MedGen ⁴² C2608083

MeSH ⁴⁴ D002780

SNOMED-CT via HPO ⁶⁹ 258211005 18165001 279333002 more

UMLS ⁷³ C2608083

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Summaries for Cholestasis, Benign Recurrent Intrahepatic, 2

UniProtKB/Swiss-Prot : ⁷⁵ Cholestasis, benign recurrent intrahepatic, 2: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.

MalaCards based summary : Cholestasis, Benign Recurrent Intrahepatic, 2, also known as bric2, is related to cholestasis, benign recurrent intrahepatic, 1. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11). Affiliated tissues include liver and testes, and related phenotypes are jaundice and pruritus

OMIM : ⁵⁷ Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without progression to liver failure. The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically (van Mil et al., 2004). (605479)

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Related Diseases for Cholestasis, Benign Recurrent Intrahepatic, 2

Diseases in the Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic, 1	Cholestasis, Benign Recurrent Intrahepatic, 1
Cholestasis, Progressive Familial Intrahepatic, 2	Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Benign Recurrent Intrahepatic, 2	Cholestasis, Progressive Familial Intrahepatic, 4
Cholestasis, Progressive Familial Intrahepatic, 5	Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	cholestasis, benign recurrent intrahepatic, 1	11.0

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Symptoms & Phenotypes for Cholestasis, Benign Recurrent Intrahepatic, 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Liver:
hepatomegaly
cholelithiasis
jaundice, episodic
progression to end-stage liver disease does not occur
intrahepatic cholestasis, episodic, recurrent, may be permanent in some patients later in life
more

Skin Nails Hair Skin:
jaundice, episodic
pruritus, episodic

Laboratory Abnormalities:
conjugated hyperbilirubinemia
increased alkaline phosphatase
normal or mildly increased serum gamma-ggt
increased serum bile acids

Clinical features from OMIM:

605479

Human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 2:

³² (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	jaundice ³²		HP:0000952
2	pruritus ³²		HP:0000989
3	cholelithiasis ³²		HP:0001081
4	intrahepatic cholestasis ³²	occasional (7.5%)	HP:0001406
5	hepatomegaly ³²		HP:0002240
6	conjugated hyperbilirubinemia ³²		HP:0002908
7	elevated alkaline phosphatase ³²		HP:0003155

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Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic, 2

Search Clinical Trials , NIH Clinical Center for Cholestasis, Benign Recurrent Intrahepatic, 2

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Genetic Tests for Cholestasis, Benign Recurrent Intrahepatic, 2

Genetic tests related to Cholestasis, Benign Recurrent Intrahepatic, 2:

#	Genetic test	Affiliating Genes
1	Benign Recurrent Intrahepatic Cholestasis 2 ²⁹	ABCB11

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Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 2

MalaCards organs/tissues related to Cholestasis, Benign Recurrent Intrahepatic, 2:

⁴¹

Liver, Testes

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Publications for Cholestasis, Benign Recurrent Intrahepatic, 2

Articles related to Cholestasis, Benign Recurrent Intrahepatic, 2:

#	Title	Authors	Year
1	Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch. ( 29404523 )	Holz R....Krawczyk M.	2018
2	Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. ( 15300568 )	van Mil S.W.C....Klomp L.W.J.	2004

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Genes for Cholestasis, Benign Recurrent Intrahepatic, 2

Genes related to Cholestasis, Benign Recurrent Intrahepatic, 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	1679.06	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	16039748 20301474

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Variations for Cholestasis, Benign Recurrent Intrahepatic, 2

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 2:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ABCB11	p.Glu297Gly	VAR_010271	rs11568372
2	ABCB11	p.Glu186Gly	VAR_030386	rs72551307
3	ABCB11	p.Arg432Thr	VAR_030391	rs121908935
4	ABCB11	p.Ala570Thr	VAR_030392	rs886043807
5	ABCB11	p.Thr923Pro	VAR_030394	rs777469571
6	ABCB11	p.Ala926Pro	VAR_030395	rs72549400
7	ABCB11	p.Arg1050Cys	VAR_030396	rs72549398
8	ABCB11	p.Arg1128His	VAR_030397	rs756220860

ClinVar genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 2:

⁶

(show all 37)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ABCB11	NM_003742.2(ABCB11): c.890A> G (p.Glu297Gly)	single nucleotide variant	Pathogenic	rs11568372	GRCh37	Chromosome 2, 169847329: 169847329
2	ABCB11	NM_003742.2(ABCB11): c.890A> G (p.Glu297Gly)	single nucleotide variant	Pathogenic	rs11568372	GRCh38	Chromosome 2, 168990819: 168990819
3	ABCB11	NM_003742.2(ABCB11): c.1295G> C (p.Arg432Thr)	single nucleotide variant	Pathogenic	rs121908935	GRCh37	Chromosome 2, 169833100: 169833100
4	ABCB11	NM_003742.2(ABCB11): c.1295G> C (p.Arg432Thr)	single nucleotide variant	Pathogenic	rs121908935	GRCh38	Chromosome 2, 168976590: 168976590
5	ABCB11	NM_003742.2(ABCB11): c.2012-8T> G	single nucleotide variant	Pathogenic	rs769910565	GRCh37	Chromosome 2, 169825008: 169825008
6	ABCB11	NM_003742.2(ABCB11): c.2012-8T> G	single nucleotide variant	Pathogenic	rs769910565	GRCh38	Chromosome 2, 168968498: 168968498
7	ABCB11	NM_003742.2(ABCB11): c.908+1G> A	single nucleotide variant	Pathogenic	rs147649016	GRCh37	Chromosome 2, 169847310: 169847310
8	ABCB11	NM_003742.2(ABCB11): c.908+1G> A	single nucleotide variant	Pathogenic	rs147649016	GRCh38	Chromosome 2, 168990800: 168990800
9	ABCB11	NM_003742.2(ABCB11): c.3692G> A (p.Arg1231Gln)	single nucleotide variant	Pathogenic	rs758069019	GRCh37	Chromosome 2, 169781240: 169781240
10	ABCB11	NM_003742.2(ABCB11): c.3692G> A (p.Arg1231Gln)	single nucleotide variant	Pathogenic	rs758069019	GRCh38	Chromosome 2, 168924730: 168924730
11	ABCB11	NM_003742.2(ABCB11): c.1271delA (p.Asn424Metfs)	deletion	Pathogenic	rs886043703	GRCh37	Chromosome 2, 169833124: 169833124
12	ABCB11	NM_003742.2(ABCB11): c.1271delA (p.Asn424Metfs)	deletion	Pathogenic	rs886043703	GRCh38	Chromosome 2, 168976614: 168976614
13	ABCB11	NM_003742.2(ABCB11): c.150+1G> A	single nucleotide variant	Pathogenic	rs886043875	GRCh37	Chromosome 2, 169870812: 169870812
14	ABCB11	NM_003742.2(ABCB11): c.150+1G> A	single nucleotide variant	Pathogenic	rs886043875	GRCh38	Chromosome 2, 169014302: 169014302
15	ABCB11	NM_003742.2(ABCB11): c.1069G> T (p.Gly357Ter)	single nucleotide variant	Pathogenic	rs886043935	GRCh37	Chromosome 2, 169842634: 169842634
16	ABCB11	NM_003742.2(ABCB11): c.1069G> T (p.Gly357Ter)	single nucleotide variant	Pathogenic	rs886043935	GRCh38	Chromosome 2, 168986124: 168986124
17	ABCB11	NM_003742.2(ABCB11): c.1445A> G (p.Asp482Gly)	single nucleotide variant	Pathogenic	rs72549402	GRCh37	Chromosome 2, 169828550: 169828550
18	ABCB11	NM_003742.2(ABCB11): c.1445A> G (p.Asp482Gly)	single nucleotide variant	Pathogenic	rs72549402	GRCh38	Chromosome 2, 168972040: 168972040
19	ABCB11	NM_003742.2(ABCB11): c.22C> T (p.Arg8Ter)	single nucleotide variant	Pathogenic	rs886043986	GRCh37	Chromosome 2, 169874614: 169874614
20	ABCB11	NM_003742.2(ABCB11): c.22C> T (p.Arg8Ter)	single nucleotide variant	Pathogenic	rs886043986	GRCh38	Chromosome 2, 169018104: 169018104
21	ABCB11	NM_003742.2(ABCB11): c.3457C> T (p.Arg1153Cys)	single nucleotide variant	Pathogenic	rs72549395	GRCh37	Chromosome 2, 169783827: 169783827
22	ABCB11	NM_003742.2(ABCB11): c.3457C> T (p.Arg1153Cys)	single nucleotide variant	Pathogenic	rs72549395	GRCh38	Chromosome 2, 168927317: 168927317
23	ABCB11	NC_000002.11: g.169830232_169830305del56	deletion	Pathogenic		GRCh37	Chromosome 2, 169830232: 169830305
24	ABCB11	NM_003742.2(ABCB11): c.1460G> A (p.Arg487His)	single nucleotide variant	Likely pathogenic	rs188824058	GRCh37	Chromosome 2, 169828535: 169828535
25	ABCB11	NM_003742.2(ABCB11): c.1460G> A (p.Arg487His)	single nucleotide variant	Likely pathogenic	rs188824058	GRCh38	Chromosome 2, 168972025: 168972025
26	ABCB11	NM_003742.2(ABCB11): c.2296G> A (p.Gly766Arg)	single nucleotide variant	Pathogenic	rs763782349	GRCh37	Chromosome 2, 169814521: 169814521
27	ABCB11	NM_003742.2(ABCB11): c.2296G> A (p.Gly766Arg)	single nucleotide variant	Pathogenic	rs763782349	GRCh38	Chromosome 2, 168958011: 168958011
28	ABCB11	NM_003742.2(ABCB11): c.2380C> T (p.Gln794Ter)	single nucleotide variant	Pathogenic	rs1060499579	GRCh37	Chromosome 2, 169801435: 169801435
29	ABCB11	NM_003742.2(ABCB11): c.2380C> T (p.Gln794Ter)	single nucleotide variant	Pathogenic	rs1060499579	GRCh38	Chromosome 2, 168944925: 168944925
30	ABCB11	NM_003742.3(ABCB11): c.409G> A (p.Glu137Lys)	single nucleotide variant	Likely pathogenic	rs1026511416	GRCh38	Chromosome 2, 168996703: 168996703
31	ABCB11	NM_003742.3(ABCB11): c.409G> A (p.Glu137Lys)	single nucleotide variant	Likely pathogenic	rs1026511416	GRCh37	Chromosome 2, 169853213: 169853213
32	ABCB11	NM_003742.3(ABCB11): c.1408C> T (p.Arg470Ter)	single nucleotide variant	Pathogenic	rs774824767	GRCh37	Chromosome 2, 169830251: 169830251
33	ABCB11	NM_003742.3(ABCB11): c.1408C> T (p.Arg470Ter)	single nucleotide variant	Pathogenic	rs774824767	GRCh38	Chromosome 2, 168973741: 168973741
34	ABCB11	NM_003742.3(ABCB11): c.403G> A (p.Glu135Lys)	single nucleotide variant	Likely pathogenic	rs752992432	GRCh37	Chromosome 2, 169853219: 169853219
35	ABCB11	NM_003742.3(ABCB11): c.403G> A (p.Glu135Lys)	single nucleotide variant	Likely pathogenic	rs752992432	GRCh38	Chromosome 2, 168996709: 168996709
36	ABCB11	NM_003742.3(ABCB11): c.3326T> C (p.Leu1109Pro)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 2, 168930750: 168930750
37	ABCB11	NM_003742.3(ABCB11): c.3326T> C (p.Leu1109Pro)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 2, 169787260: 169787260

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Expression for Cholestasis, Benign Recurrent Intrahepatic, 2

Search GEO for disease gene expression data for Cholestasis, Benign Recurrent Intrahepatic, 2.

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Pathways for Cholestasis, Benign Recurrent Intrahepatic, 2

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GO Terms for Cholestasis, Benign Recurrent Intrahepatic, 2

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