MCID: CHL118
MIFTS: 27

Cholestasis, Benign Recurrent Intrahepatic, 2

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

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 2

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

Name: Cholestasis, Benign Recurrent Intrahepatic, 2 53 71 13
Bric2 53 49 55 71
Cholestasis, Benign Recurrent Intrahepatic 2 49 69
Benign Recurrent Intrahepatic Cholestasis 2 49 28
Benign Recurrent Intrahepatic Cholestasis Type 2 55
Recurrent Familial Intrahepatic Cholestasis 2 49
Mild Abcb11 Deficiency 49
Bric Type 2 55

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
cholestasis, benign recurrent intrahepatic, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 605479
Orphanet 55 ORPHA99961
MESH via Orphanet 42 C535931
UMLS via Orphanet 70 C2608083 C3489789
ICD10 via Orphanet 33 K83.1
MedGen 39 C2608083
MeSH 41 D002780
UMLS 69 C2608083

Summaries for Cholestasis, Benign Recurrent Intrahepatic, 2

UniProtKB/Swiss-Prot : 71 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 and cholestasis, and has symptoms including jaundice, pruritus and cholelithiasis. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11). Affiliated tissues include liver.

OMIM : 53 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)

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Benign recurrent intrahepatic cholestasis.

Related Diseases for Cholestasis, Benign Recurrent Intrahepatic, 2

Symptoms & Phenotypes for Cholestasis, Benign Recurrent Intrahepatic, 2

Symptoms via clinical synopsis from OMIM:

53
Abdomen Liver:
intrahepatic cholestasis, episodic, recurrent, may be permanent in some patients later in life
jaundice, episodic
hepatomegaly
cholelithiasis
mild fibrosis (some), shown on biopsy
more
Laboratory Abnormalities:
normal or mildly increased serum gamma-ggt
conjugated hyperbilirubinemia
increased alkaline phosphatase
increased serum bile acids

Skin Nails Hair Skin:
jaundice, episodic
pruritus, episodic


Clinical features from OMIM:

605479

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 jaundice 31 HP:0000952
2 pruritus 31 HP:0000989
3 cholelithiasis 31 HP:0001081
4 intrahepatic cholestasis 31 occasional (7.5%) HP:0001406
5 hepatomegaly 31 HP:0002240
6 conjugated hyperbilirubinemia 31 HP:0002908
7 elevated alkaline phosphatase 31 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 28 ABCB11

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 2

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

38
Liver

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
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. ( 16290310 )
2006
3
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:

71
# 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 13)
# 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.1295G> C (p.Arg432Thr) single nucleotide variant Pathogenic rs121908935 GRCh37 Chromosome 2, 169833100: 169833100
3 ABCB11 NM_003742.2(ABCB11): c.2012-8T> G single nucleotide variant Pathogenic rs769910565 GRCh37 Chromosome 2, 169825008: 169825008
4 ABCB11 NM_003742.2(ABCB11): c.908+1G> A single nucleotide variant Pathogenic rs147649016 GRCh37 Chromosome 2, 169847310: 169847310
5 ABCB11 NM_003742.2(ABCB11): c.3692G> A (p.Arg1231Gln) single nucleotide variant Pathogenic rs758069019 GRCh37 Chromosome 2, 169781240: 169781240
6 ABCB11 NM_003742.2(ABCB11): c.1271delA (p.Asn424Metfs) deletion Pathogenic rs886043703 GRCh37 Chromosome 2, 169833124: 169833124
7 ABCB11 NM_003742.2(ABCB11): c.150+1G> A single nucleotide variant Pathogenic rs886043875 GRCh37 Chromosome 2, 169870812: 169870812
8 ABCB11 NM_003742.2(ABCB11): c.1069G> T (p.Gly357Ter) single nucleotide variant Pathogenic rs886043935 GRCh37 Chromosome 2, 169842634: 169842634
9 ABCB11 NM_003742.2(ABCB11): c.1445A> G (p.Asp482Gly) single nucleotide variant Pathogenic rs72549402 GRCh37 Chromosome 2, 169828550: 169828550
10 ABCB11 NM_003742.2(ABCB11): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs886043986 GRCh37 Chromosome 2, 169874614: 169874614
11 ABCB11 NM_003742.2(ABCB11): c.3457C> T (p.Arg1153Cys) single nucleotide variant Pathogenic rs72549395 GRCh37 Chromosome 2, 169783827: 169783827
12 ABCB11 NC_000002.11: g.169830232_169830305del56 deletion Pathogenic GRCh37 Chromosome 2, 169830232: 169830305
13 ABCB11 NM_003742.2(ABCB11): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs1060499579 GRCh37 Chromosome 2, 169801435: 169801435

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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18 FMA
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58 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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