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

BRIC2 MCID: CHL118 MIFTS: 44	Cholestasis, Benign Recurrent Intrahepatic, 2 (BRIC2) Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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

Benign Recurrent Intrahepatic Cholestasis 2 ¹² ⁵³ ²⁹ ⁶ ¹⁵

Bric2 ⁵⁷ ¹² ⁵³ ⁵⁹ ⁷⁵

Cholestasis, Benign Recurrent Intrahepatic 2 ⁵³ ⁷³

Bric Type 2 ¹² ⁵⁹

Cholestasis, Intrahepatic, Recurrent, Benign, Type 2 ⁴⁰

Benign Recurrent Intrahepatic Cholestasis Type 2 ⁵⁹

Recurrent Familial Intrahepatic Cholestasis 2 ⁵³

Mild Abcb11 Deficiency ⁵³

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 Cancer diseases
Anatomical: Liver 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

Disease Ontology ¹² DOID:0070232

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 C3489789

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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 benign recurrent intrahepatic cholestasis 2, is related to cholestasis, benign recurrent intrahepatic, 1 and cholestasis, progressive familial intrahepatic, 2. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Human cytomegalovirus infection and PI3K-Akt signaling pathway. Affiliated tissues include liver and testes, and related phenotypes are hepatomegaly and pruritus

Disease Ontology : ¹² A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has material basis in mutation in the ABCB11 gene on chromosome 2q31.

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 Progressive Familial 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:

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	cholestasis, benign recurrent intrahepatic, 1	31.8	ABCB11 ATP8B1
2	cholestasis, progressive familial intrahepatic, 2	30.6	ABCB11 ATP8B1
3	cholestasis	10.4
4	atp8b1 deficiency	10.2	ABCB11 ATP8B1
5	cholestasis, progressive familial intrahepatic, 4	10.1	ABCB11 ATP8B1
6	cholestasis, progressive familial intrahepatic, 3	10.1	ABCB11 ATP8B1
7	alagille syndrome 1	10.1	ABCB11 ATP8B1
8	cholestasis, progressive familial intrahepatic, 1	10.1	ABCB11 ATP8B1
9	progressive familial intrahepatic cholestasis	10.1	ABCB11 ATP8B1
10	bile duct disease	10.1	ABCB11 ATP8B1
11	biliary tract disease	10.0	ABCB11 ATP8B1
12	caspase 8 deficiency	9.9	CASP10 CASP8
13	chronic mountain sickness	9.9	CASP8 CASP9
14	cardiomyopathy, familial hypertrophic, 1	9.9	CASP1 CASP10
15	juvenile amyotrophic lateral sclerosis	9.9	CASP10 CASP8
16	dystrophinopathies	9.9	CASP8 CASP9
17	cowpox	9.9	CASP1 CASP8
18	chlamydia	9.9	CASP1 MCL1
19	lymphoma, non-hodgkin, familial	9.7	CASP10 CASP8 MCL1
20	myeloma, multiple	9.7	CASP8 CASP9 MCL1
21	cervical cancer	9.4	CASP8 CASP9 MCL1

Graphical network of the top 20 diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2:

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

GenomeRNAi Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.7	ATP8B1 CASP1 CASP8 CASP9 MCL1 TRADD
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.7	ATP8B1 CASP1 CASP8 CASP9 MCL1 TRADD

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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 )		2018
2	Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption. ( 26223708 )	Hayashi H...Kusuhara H	2016
3	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	1686.98	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16039748 20301474
2	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	16.83	DISEASES inferred ¹⁵
3	CASP10	Caspase 10	Protein Coding	15.28	DISEASES inferred ¹⁵
4	TRADD	TNFRSF1A Associated Via Death Domain	Protein Coding	15.17	DISEASES inferred ¹⁵
5	CASP1	Caspase 1	Protein Coding	13.73	DISEASES inferred ¹⁵
6	MCL1	MCL1, BCL2 Family Apoptosis Regulator	Protein Coding	13.52	DISEASES inferred ¹⁵
7	CASP8	Caspase 8	Protein Coding	13.31	DISEASES inferred ¹⁵
8	CASP9	Caspase 9	Protein Coding	13.21	DISEASES inferred ¹⁵

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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	GRCh38	Chromosome 2, 168973741: 168973741
33	ABCB11	NM_003742.3(ABCB11): c.1408C> T (p.Arg470Ter)	single nucleotide variant	Pathogenic	rs774824767	GRCh37	Chromosome 2, 169830251: 169830251
34	ABCB11	NM_003742.3(ABCB11): c.403G> A (p.Glu135Lys)	single nucleotide variant	Likely pathogenic	rs752992432	GRCh38	Chromosome 2, 168996709: 168996709
35	ABCB11	NM_003742.3(ABCB11): c.403G> A (p.Glu135Lys)	single nucleotide variant	Likely pathogenic	rs752992432	GRCh37	Chromosome 2, 169853219: 169853219
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

Pathways related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 43)

#	Super pathways	Score	Top Affiliating Genes
1	Human cytomegalovirus infection ³⁷ Show member pathways Hepatitis B ³⁷ Human immunodeficiency virus 1 infection ³⁷ Kaposi sarcoma-associated herpesvirus infection ³⁷	12.86	CASP10 CASP8 CASP9 TRADD
2	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.81	CASP8 CASP9 MCL1 TRADD
3	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ DR3 Signaling ⁶⁴ Fas Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	12.76	CASP1 CASP10 CASP8 CASP9 TRADD
4	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.73	CASP1 CASP10 CASP8 CASP9 TRADD
5	MAPK signaling pathway ³⁷ ¹	12.61	CASP1 CASP8 CASP9 TRADD
6	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways ⁶⁶ Show member pathways Cytosolic DNA-sensing pathway ³⁷ Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²² Negative regulators of RIG-I/MDA5 signaling ⁶⁶ NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 ⁶⁶ RIG-I-like Receptor Signaling ¹ RIG-I-like receptor signaling pathway ³⁷ TRAF3-dependent IRF activation pathway ⁶⁶ TRAF6 mediated IRF7 activation ⁶⁶ Virus Detection and Induction of Antiviral Signaling Pathways by RIG-I-like Receptors (RLR) ⁶⁵	12.6	CASP1 CASP10 CASP8 TRADD
7	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	12.54	CASP1 CASP10 CASP8 CASP9
8	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.52	CASP8 CASP9 MCL1 TRADD
9	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.39	CASP1 CASP10 CASP8 CASP9
10	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	12.33	CASP1 CASP10 CASP8 CASP9 TRADD
11	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ¹ Apoptosis ³⁷ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁵ Death Receptor Signaling ⁶⁷	12.33	CASP1 CASP10 CASP8 CASP9 MCL1 TRADD
12	Apoptosis Pathway ⁷² Show member pathways Akt Pathway ⁷² NF-kappaB Pathway ⁷²	12.27	CASP10 CASP8 CASP9
13	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways BMP Pathway ⁶⁴ Caspase Cascade ⁶⁴ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁶ nNOS Signaling in Skeletal Muscle ⁶⁴ TOB in Osteoblast Signaling ⁶⁴	12.18	CASP1 CASP10 CASP8 CASP9 TRADD
14	TNF signaling (REACTOME) ¹ Show member pathways Death Receptor Signalling ⁶⁶ Regulation of TNFR1 signaling ⁶⁶ TNF signaling ⁶⁶ TNFR1-induced NFkappaB signaling pathway ⁶⁶ TNFR1-induced proapoptotic signaling ⁶⁶ TNFR1-mediated ceramide production ⁶⁶	12.17	CASP10 CASP8 TRADD
15	Epstein-Barr virus infection ³⁷	12.14	CASP8 CASP9 TRADD
16	Dimerization of procaspase-8 ⁶⁶ Show member pathways CASP8 activity is inhibited ⁶⁶ Caspase activation via extrinsic apoptotic signalling pathway ⁶⁶ FAS (CD95) signaling pathway ¹ Ligand-dependent caspase activation ⁶⁶ Ligand-independent caspase activation via DCC ⁶⁶ Regulated Necrosis ⁶⁶ Regulation by c-FLIP ⁶⁶ Regulation of necroptotic cell death ⁶⁶ RIPK1-mediated regulated necrosis ⁶⁶ TRAIL signaling ⁶⁶ TRAIL signaling pathway ¹	12.14	CASP10 CASP8 CASP9 TRADD
17	Necroptosis ³⁷ Show member pathways Nanoparticle triggered regulated necrosis ¹	12.06	CASP1 CASP8 TRADD
18	Tuberculosis ³⁷	12.03	CASP10 CASP8 CASP9 TRADD
19	p53 Signaling ⁶⁴ Show member pathways p53 Pathway ⁶⁷	12.03	CASP1 CASP10 CASP8 CASP9
20	Integrated Breast Cancer Pathway ¹	12.01	CASP8 CASP9 TRADD
21	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²²	11.98	CASP8 CASP9 TRADD
22	Direct p53 effectors ¹	11.94	CASP1 CASP10 MCL1
23	Apoptosis and survival Caspase cascade ²² Show member pathways Apoptosis and survival FAS signaling cascades ²² Breakdown of the nuclear lamina ⁶⁶ Caspase cascade in apoptosis ¹ Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation ¹ FasL/ CD95L signaling ⁶⁶ Influenza A virus infection ¹	11.91	CASP1 CASP10 CASP8 CASP9 TRADD
24	Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways ⁶⁶ Show member pathways Inflammasomes ⁶⁶ NOD1/2 Signaling Pathway ⁶⁶ The AIM2 inflammasome ⁶⁶ The NLRP1 inflammasome ⁶⁶ The NLRP3 inflammasome ⁶⁶	11.85	CASP1 CASP8 CASP9
25	TNF signaling pathway ³⁷	11.83	CASP10 CASP8 TRADD
26	Presenilin-Mediated Signaling ⁶⁴	11.82	CASP1 CASP10 CASP8 CASP9
27	G-protein signaling N-RAS regulation pathway ²² Show member pathways Immune response Antigen presentation by MHC class II ²²	11.77	CASP1 CASP10 CASP8 CASP9
28	S-1P Stimulated Signaling ⁶⁴	11.72	CASP1 CASP10 CASP8 CASP9
29	Nanomaterial induced apoptosis ¹ Show member pathways Activation and oligomerization of BAK protein ⁶⁶ Apoptosis - multiple species ³⁷ Apoptosis Modulation by HSP70 ¹ Apoptotic factor-mediated response ⁶⁶ Release of apoptotic factors from the mitochondria ⁶⁶	11.71	CASP8 CASP9 MCL1
30	VEGF Pathway (Tocris) ⁶¹ Show member pathways VEGF Pathway ⁷²	11.69	CASP10 CASP8 CASP9
31	Apoptosis and Autophagy ⁴	11.62	CASP1 CASP8 CASP9 MCL1 TRADD
32	Platinum drug resistance ³⁷	11.55	CASP8 CASP9
33	AGE/RAGE pathway ¹	11.51	CASP8 CASP9
34	A-beta Signaling Pathways ⁶⁵	11.47	CASP10 CASP8 TRADD
35	Legionellosis ³⁷	11.46	CASP1 CASP8 CASP9
36	Granzyme Pathway ⁶⁴ Show member pathways Granzyme-B Pathway ⁶⁴	11.37	CASP8 CASP9
37	Integrated Cancer Pathway ¹	11.34	CASP8 CASP9
38	Ceramide signaling pathway ¹	11.32	CASP8 TRADD
39	all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴	11.31	CASP8 CASP9
40	Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins ²² Show member pathways Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization ⁶⁶	11.31	CASP8 CASP9 MCL1
41	Nucleotide-binding Oligomerization Domain (NOD) pathway ¹	11.31	CASP1 CASP8 CASP9
42	TNF Signaling (sino) ⁶⁷	11.27	CASP10 CASP8 CASP9
43	Ceramide Pathway ⁶⁴ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁴	11.11	CASP1 CASP10 CASP8 CASP9 TRADD

Sources

GO Terms for Cholestasis, Benign Recurrent Intrahepatic, 2

Cellular components related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex	GO:0032991	9.56	CASP1 CASP8 CASP9 TRADD
2	death-inducing signaling complex	GO:0031264	9.16	CASP8 TRADD
3	CD95 death-inducing signaling complex	GO:0031265	8.96	CASP10 CASP8
4	ripoptosome	GO:0097342	8.62	CASP10 CASP8

Biological processes related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	9.84	CASP1 CASP10 CASP8 CASP9
2	apoptotic process	GO:0006915	9.63	CASP1 CASP10 CASP8 CASP9 MCL1 TRADD
3	positive regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043123	9.62	CASP1 CASP10 CASP8 TRADD
4	cellular response to organic cyclic compound	GO:0071407	9.59	CASP8 CASP9
5	intrinsic apoptotic signaling pathway in response to DNA damage	GO:0008630	9.58	CASP9 MCL1
6	extrinsic apoptotic signaling pathway	GO:0097191	9.58	CASP8 TRADD
7	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902042	9.57	CASP8 TRADD
8	extrinsic apoptotic signaling pathway in absence of ligand	GO:0097192	9.56	CASP9 MCL1
9	extrinsic apoptotic signaling pathway via death domain receptors	GO:0008625	9.55	CASP8 TRADD
10	apoptotic signaling pathway	GO:0097190	9.54	CASP1 CASP10 CASP8
11	response to antibiotic	GO:0046677	9.52	CASP8 CASP9
12	regulation of tumor necrosis factor-mediated signaling pathway	GO:0010803	9.51	CASP8 TRADD
13	bile acid and bile salt transport	GO:0015721	9.49	ABCB11 ATP8B1
14	regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902041	9.48	CASP8 TRADD
15	regulation of response to DNA damage stimulus	GO:2001020	9.46	CASP9 MCL1
16	death-inducing signaling complex assembly	GO:0071550	9.43	CASP8 TRADD
17	execution phase of apoptosis	GO:0097194	9.43	CASP1 CASP10 CASP8
18	response to cobalt ion	GO:0032025	9.4	CASP8 CASP9
19	regulation of apoptotic process	GO:0042981	9.35	CASP1 CASP10 CASP8 CASP9 MCL1
20	activation of cysteine-type endopeptidase activity involved in apoptotic process	GO:0006919	9.02	CASP1 CASP10 CASP8 CASP9 TRADD

Molecular functions related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	hydrolase activity	GO:0016787	9.83	ATP8B1 CASP1 CASP10 CASP8 CASP9
2	peptidase activity	GO:0008233	9.67	CASP1 CASP10 CASP8 CASP9
3	cysteine-type peptidase activity	GO:0008234	9.56	CASP1 CASP10 CASP8 CASP9
4	cysteine-type endopeptidase activity	GO:0004197	9.46	CASP1 CASP10 CASP8 CASP9
5	tumor necrosis factor receptor binding	GO:0005164	9.4	CASP8 TRADD
6	death effector domain binding	GO:0035877	9.32	CASP10 CASP8
7	cysteine-type endopeptidase activity involved in apoptotic process	GO:0097153	9.26	CASP1 CASP10 CASP8 CASP9
8	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	GO:0097199	8.92	CASP1 CASP10 CASP8 CASP9

Sources

Sources for Cholestasis, Benign Recurrent Intrahepatic, 2

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Cholestasis, Benign Recurrent Intrahepatic, 2 (BRIC2)

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 2

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

Characteristics:

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Diseases in the Progressive Familial Intrahepatic Cholestasis family:

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

Graphical network of the top 20 diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2:

Symptoms & Phenotypes for Cholestasis, Benign Recurrent Intrahepatic, 2

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Pathways for Cholestasis, Benign Recurrent Intrahepatic, 2

Pathways related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

GO Terms for Cholestasis, Benign Recurrent Intrahepatic, 2

Cellular components related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

Biological processes related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

Molecular functions related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

Sources for Cholestasis, Benign Recurrent Intrahepatic, 2