MCID: CHL118
MIFTS: 25

Cholestasis, Benign Recurrent Intrahepatic, 2

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Reproductive diseases, Gastrointestinal diseases, Endocrine diseases

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:



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
UMLS 73 C2608083

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)

Related Diseases for Cholestasis, Benign Recurrent Intrahepatic, 2

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

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic, 2

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

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

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 2

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

41
Liver, Testes

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 )
2018
2
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. ( 15300568 )
2004

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

Expression for Cholestasis, Benign Recurrent Intrahepatic, 2

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

Pathways for Cholestasis, Benign Recurrent Intrahepatic, 2

GO Terms for Cholestasis, Benign Recurrent Intrahepatic, 2

Sources for Cholestasis, Benign Recurrent Intrahepatic, 2

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