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, 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 ⁵⁸ ⁷⁶ ¹³

Benign Recurrent Intrahepatic Cholestasis 2 ¹² ⁵⁴ ³⁰ ⁶ ¹⁵

Bric2 ⁵⁸ ¹² ⁵⁴ ⁶⁰ ⁷⁶

Cholestasis, Benign Recurrent Intrahepatic 2 ⁵⁴ ⁷⁴

Bric Type 2 ¹² ⁶⁰

Cholestasis, Intrahepatic, Recurrent, Benign, Type 2 ⁴¹

Benign Recurrent Intrahepatic Cholestasis Type 2 ⁶⁰

Recurrent Familial Intrahepatic Cholestasis 2 ⁵⁴

Mild Abcb11 Deficiency ⁵⁴

Characteristics:

OMIM:

⁵⁸

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:

³³

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the digestive system

Disorders of gallbladder, biliary tract and pancreas

Other diseases of biliary tract

Obstruction of bile duct

Orphanet: ⁶⁰

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0070232

OMIM ⁵⁸ 605479

MeSH ⁴⁵ D002780

MESH via Orphanet ⁴⁶ C535931

ICD10 via Orphanet ³⁵ K83.1

UMLS via Orphanet ⁷⁵ C2608083 C3489789

Orphanet ⁶⁰ ORPHA99961

MedGen ⁴³ C2608083

SNOMED-CT via HPO ⁷⁰ 18165001 258211005 266474003 more

UMLS ⁷⁴ C2608083 C3489789

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Summaries for Cholestasis, Benign Recurrent Intrahepatic, 2

UniProtKB/Swiss-Prot : ⁷⁶ 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 PI3K-Akt signaling pathway and TNFR1 Pathway. Affiliated tissues include liver and testes, and related phenotypes are intrahepatic cholestasis and hepatomegaly

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 : ⁵⁸ 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	31.9	ABCB11 ATP8B1
2	cholestasis, progressive familial intrahepatic, 2	30.8	ABCB11 ATP8B1
3	cholestasis	10.4
4	atp8b1 deficiency	10.2	ABCB11 ATP8B1
5	cholestasis, progressive familial intrahepatic, 4	10.2	ABCB11 ATP8B1
6	cholestasis, progressive familial intrahepatic, 3	10.2	ABCB11 ATP8B1
7	alagille syndrome 1	10.2	ABCB11 ATP8B1
8	cholestasis, progressive familial intrahepatic, 1	10.2	ABCB11 ATP8B1
9	progressive familial intrahepatic cholestasis	10.1	ABCB11 ATP8B1
10	bile duct disease	10.1	ABCB11 ATP8B1
11	biliary tract disease	10.1	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	9.8	CASP1 CASP8
18	chlamydia	9.8	CASP1 MCL1
19	lymphoma, non-hodgkin, familial	9.5	CASP10 CASP8 MCL1
20	myeloma, multiple	9.5	CASP8 CASP9 MCL1
21	cervical cancer	9.1	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

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

³³ (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	intrahepatic cholestasis ³³	occasional (7.5%)	HP:0001406
2	hepatomegaly ³³		HP:0002240
3	pruritus ³³		HP:0000989
4	cholelithiasis ³³		HP:0001081
5	jaundice ³³		HP:0000952
6	conjugated hyperbilirubinemia ³³		HP:0002908
7	elevated alkaline phosphatase ³³		HP:0003155

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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

²⁷

#	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 ³⁰	ABCB11

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Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 2

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

⁴²

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	Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations. ( 30899697 )	Sohn MJ...Ko JS	2019
2	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
3	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
4	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	1686.96	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16039748 20301474 9806540 (more) 10579978 15300568
2	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	16.95	DISEASES inferred ¹⁵
3	CASP10	Caspase 10	Protein Coding	15.32	DISEASES inferred ¹⁵
4	TRADD	TNFRSF1A Associated Via Death Domain	Protein Coding	15.2	DISEASES inferred ¹⁵
5	CASP1	Caspase 1	Protein Coding	13.74	DISEASES inferred ¹⁵
6	MCL1	MCL1 Apoptosis Regulator, BCL2 Family Member	Protein Coding	13.56	DISEASES inferred ¹⁵
7	CASP8	Caspase 8	Protein Coding	13.34	DISEASES inferred ¹⁵
8	CASP9	Caspase 9	Protein Coding	13.24	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:

⁷⁶

#	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 28)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ABCB11	NM_003742.4(ABCB11): c.890A> G (p.Glu297Gly)	single nucleotide variant	Pathogenic	rs11568372	GRCh37	Chromosome 2, 169847329: 169847329
2	ABCB11	NM_003742.4(ABCB11): c.890A> G (p.Glu297Gly)	single nucleotide variant	Pathogenic	rs11568372	GRCh38	Chromosome 2, 168990819: 168990819
3	ABCB11	NM_003742.4(ABCB11): c.1295G> C (p.Arg432Thr)	single nucleotide variant	Pathogenic	rs121908935	GRCh37	Chromosome 2, 169833100: 169833100
4	ABCB11	NM_003742.4(ABCB11): c.1295G> C (p.Arg432Thr)	single nucleotide variant	Pathogenic	rs121908935	GRCh38	Chromosome 2, 168976590: 168976590
5	ABCB11	NM_003742.4(ABCB11): c.2012-8T> G	single nucleotide variant	Pathogenic	rs769910565	GRCh37	Chromosome 2, 169825008: 169825008
6	ABCB11	NM_003742.4(ABCB11): c.2012-8T> G	single nucleotide variant	Pathogenic	rs769910565	GRCh38	Chromosome 2, 168968498: 168968498
7	ABCB11	NM_003742.4(ABCB11): c.908+1G> A	single nucleotide variant	Pathogenic	rs147649016	GRCh37	Chromosome 2, 169847310: 169847310
8	ABCB11	NM_003742.4(ABCB11): c.908+1G> A	single nucleotide variant	Pathogenic	rs147649016	GRCh38	Chromosome 2, 168990800: 168990800
9	ABCB11	NM_003742.4(ABCB11): c.3692G> A (p.Arg1231Gln)	single nucleotide variant	Pathogenic	rs758069019	GRCh37	Chromosome 2, 169781240: 169781240
10	ABCB11	NM_003742.4(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_003742.4(ABCB11): c.1069G> T (p.Gly357Ter)	single nucleotide variant	Pathogenic	rs886043935	GRCh37	Chromosome 2, 169842634: 169842634
14	ABCB11	NM_003742.4(ABCB11): c.1069G> T (p.Gly357Ter)	single nucleotide variant	Pathogenic	rs886043935	GRCh38	Chromosome 2, 168986124: 168986124
15	ABCB11	NM_003742.4(ABCB11): c.1445A> G (p.Asp482Gly)	single nucleotide variant	Pathogenic	rs72549402	GRCh37	Chromosome 2, 169828550: 169828550
16	ABCB11	NM_003742.4(ABCB11): c.1445A> G (p.Asp482Gly)	single nucleotide variant	Pathogenic	rs72549402	GRCh38	Chromosome 2, 168972040: 168972040
17	ABCB11	NM_003742.4(ABCB11): c.3457C> T (p.Arg1153Cys)	single nucleotide variant	Pathogenic	rs72549395	GRCh37	Chromosome 2, 169783827: 169783827
18	ABCB11	NM_003742.4(ABCB11): c.3457C> T (p.Arg1153Cys)	single nucleotide variant	Pathogenic	rs72549395	GRCh38	Chromosome 2, 168927317: 168927317
19	ABCB11	NM_003742.4(ABCB11): c.1460G> A (p.Arg487His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs188824058	GRCh37	Chromosome 2, 169828535: 169828535
20	ABCB11	NM_003742.4(ABCB11): c.1460G> A (p.Arg487His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs188824058	GRCh38	Chromosome 2, 168972025: 168972025
21	ABCB11	NM_003742.4(ABCB11): c.2296G> A (p.Gly766Arg)	single nucleotide variant	Pathogenic	rs763782349	GRCh37	Chromosome 2, 169814521: 169814521
22	ABCB11	NM_003742.4(ABCB11): c.2296G> A (p.Gly766Arg)	single nucleotide variant	Pathogenic	rs763782349	GRCh38	Chromosome 2, 168958011: 168958011
23	ABCB11	NM_003742.4(ABCB11): c.2380C> T (p.Gln794Ter)	single nucleotide variant	Pathogenic	rs1060499579	GRCh37	Chromosome 2, 169801435: 169801435
24	ABCB11	NM_003742.4(ABCB11): c.2380C> T (p.Gln794Ter)	single nucleotide variant	Pathogenic	rs1060499579	GRCh38	Chromosome 2, 168944925: 168944925
25	ABCB11	NM_003742.4(ABCB11): c.1408C> T (p.Arg470Ter)	single nucleotide variant	Pathogenic	rs774824767	GRCh37	Chromosome 2, 169830251: 169830251
26	ABCB11	NM_003742.4(ABCB11): c.1408C> T (p.Arg470Ter)	single nucleotide variant	Pathogenic	rs774824767	GRCh38	Chromosome 2, 168973741: 168973741
27	ABCB11	NM_003742.3(ABCB11): c.3326T> C (p.Leu1109Pro)	single nucleotide variant	Pathogenic	rs1553545883	GRCh38	Chromosome 2, 168930750: 168930750
28	ABCB11	NM_003742.3(ABCB11): c.3326T> C (p.Leu1109Pro)	single nucleotide variant	Pathogenic	rs1553545883	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 40)

#	Super pathways	Score	Top Affiliating Genes
1	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.79	CASP8 CASP9 MCL1 TRADD
2	TNFR1 Pathway ⁶⁵ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²³ Apoptosis through Death Receptors ⁶⁵ Apoptotic Pathways Triggered By HIV1 ⁶⁵ DR3 Signaling ⁶⁵ Fas Signaling ⁶⁵ GITR Pathway ⁶⁵ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁷ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁵ TRAIL Pathway ⁶⁵ TWEAK Pathway ⁶⁵	12.76	CASP1 CASP10 CASP8 CASP9 TRADD
3	Human cytomegalovirus infection ³⁸ Show member pathways Human immunodeficiency virus 1 infection ³⁸ Kaposi sarcoma-associated herpesvirus infection ³⁸	12.75	CASP10 CASP8 CASP9 TRADD
4	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	12.72	CASP1 CASP10 CASP8 CASP9 TRADD
5	MAPK signaling pathway ¹ ³⁸	12.6	CASP1 CASP8 CASP9 TRADD
6	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways ⁶⁷ Show member pathways Cytosolic DNA-sensing pathway ³⁸ Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²³ Negative regulators of RIG-I/MDA5 signaling ⁶⁷ NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 ⁶⁷ RIG-I-like Receptor Signaling ¹ RIG-I-like receptor signaling pathway ³⁸ TRAF3-dependent IRF activation pathway ⁶⁷ TRAF6 mediated IRF7 activation ⁶⁷ Virus Detection and Induction of Antiviral Signaling Pathways by RIG-I-like Receptors (RLR) ⁶⁶	12.59	CASP1 CASP10 CASP8 TRADD
7	Chks in Checkpoint Regulation ⁶⁵ Show member pathways DNA Repair Mechanisms ⁶⁵ Estrogen-mediated S-Phase Entry ⁶⁵ G2-M Phase Transition ⁶⁵ Parkinson's Disease Pathway ⁶⁵ SREBP Proteolysis ⁶⁵	12.53	CASP1 CASP10 CASP8 CASP9
8	4-1BB Pathway ⁶⁵ Show member pathways CD27 Pathway ⁶⁵ CD40 Signaling ⁶⁵ CMV and MAPK Pathways ⁶⁵ NF-KappaB Activation by EBV ⁶⁵ NF-kappaB Activation by Viruses ⁶⁵ PKR Pathway ⁶⁵ SUMO Pathway ⁶⁵ TNFR2 Pathway ⁶⁵	12.51	CASP8 CASP9 MCL1 TRADD
9	TRAF Pathway ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁵ TNF Superfamily Pathway ⁶⁵ Toll-Like Receptors Pathway ⁶⁵	12.33	CASP1 CASP10 CASP8 CASP9 TRADD
10	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ³⁸ Apoptosis ¹ Apoptosis and survival Apoptotic TNF-family pathways ²³ Apoptosis Signaling Pathways ⁶⁶ Death Receptor Signaling ⁶⁸	12.33	CASP1 CASP10 CASP8 CASP9 MCL1 TRADD
11	Apoptosis Pathway ⁷³ Show member pathways Akt Pathway ⁷³ NF-kappaB Pathway ⁷³	12.26	CASP10 CASP8 CASP9
12	DREAM Repression and Dynorphin Expression ⁶⁵ Show member pathways BMP Pathway ⁶⁵ Caspase Cascade ⁶⁵ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁷ nNOS Signaling in Skeletal Muscle ⁶⁵ TOB in Osteoblast Signaling ⁶⁵	12.18	CASP1 CASP10 CASP8 CASP9 TRADD
13	TNF signaling (REACTOME) ⁶⁷ Show member pathways Death Receptor Signalling ⁶⁷ Regulation of TNFR1 signaling ⁶⁷ TNF receptor signaling pathway ¹ TNFR1-induced NFkappaB signaling pathway ⁶⁷ TNFR1-induced proapoptotic signaling ⁶⁷ TNFR1-mediated ceramide production ⁶⁷	12.16	CASP10 CASP8 TRADD
14	Necroptosis ³⁸ Show member pathways Nanoparticle triggered regulated necrosis ¹	12.06	CASP1 CASP8 TRADD
15	Tuberculosis ³⁸	12.03	CASP10 CASP8 CASP9 TRADD
16	p53 Signaling ⁶⁵ Show member pathways p53 Pathway ⁶⁸	12.03	CASP1 CASP10 CASP8 CASP9
17	Integrated Breast Cancer Pathway ¹	12	CASP8 CASP9 TRADD
18	Immune response Function of MEF2 in T lymphocytes ²³ Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²³	11.97	CASP8 CASP9 TRADD
19	Direct p53 effectors ¹	11.93	CASP1 CASP10 MCL1
20	Apoptosis and survival Caspase cascade ²³ Show member pathways Apoptosis and survival FAS signaling cascades ²³ Breakdown of the nuclear lamina ⁶⁷ Caspase cascade in apoptosis ¹ Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation ¹ FasL/ CD95L signaling ⁶⁷ Influenza A virus infection ¹	11.91	CASP1 CASP10 CASP8 CASP9 TRADD
21	Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways ⁶⁷ Show member pathways Inflammasomes ⁶⁷ NOD1/2 Signaling Pathway ⁶⁷ The AIM2 inflammasome ⁶⁷ The NLRP1 inflammasome ⁶⁷ The NLRP3 inflammasome ⁶⁷	11.84	CASP1 CASP8 CASP9
22	TNF signaling pathway ³⁸	11.82	CASP10 CASP8 TRADD
23	Presenilin-Mediated Signaling ⁶⁵	11.82	CASP1 CASP10 CASP8 CASP9
24	G-protein signaling N-RAS regulation pathway ²³ Show member pathways Immune response Antigen presentation by MHC class II ²³	11.77	CASP1 CASP10 CASP8 CASP9
25	S-1P Stimulated Signaling ⁶⁵	11.72	CASP1 CASP10 CASP8 CASP9
26	Nanomaterial induced apoptosis ¹ Show member pathways Activation and oligomerization of BAK protein ⁶⁷ Apoptosis - multiple species ³⁸ Apoptosis Modulation by HSP70 ¹ Apoptotic factor-mediated response ⁶⁷ Release of apoptotic factors from the mitochondria ⁶⁷	11.69	CASP8 CASP9 MCL1
27	VEGF Pathway (Tocris) ⁷³ Show member pathways Sorafenib Pharmacodynamics ⁶²	11.68	CASP10 CASP8 CASP9
28	Apoptosis and Autophagy ⁴	11.62	CASP1 CASP8 CASP9 MCL1 TRADD
29	Platinum drug resistance ³⁸	11.55	CASP8 CASP9
30	AGE/RAGE pathway ¹	11.5	CASP8 CASP9
31	A-beta Signaling Pathways ⁶⁶	11.46	CASP10 CASP8 TRADD
32	Legionellosis ³⁸	11.45	CASP1 CASP8 CASP9
33	Granzyme Pathway ⁶⁵ Show member pathways Granzyme-B Pathway ⁶⁵	11.37	CASP8 CASP9
34	Integrated Cancer Pathway ¹	11.34	CASP8 CASP9
35	Ceramide signaling pathway ¹	11.31	CASP8 TRADD
36	Nucleotide-binding Oligomerization Domain (NOD) pathway ¹	11.31	CASP1 CASP8 CASP9
37	all-trans-Retinoic Acid Mediated Apoptosis ⁶⁵	11.3	CASP8 CASP9
38	Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins ²³ Show member pathways Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization ⁶⁷	11.3	CASP8 CASP9 MCL1
39	TNF Signaling (sino) ⁶⁸	11.27	CASP10 CASP8 CASP9
40	Ceramide Pathway ⁶⁵ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁵	11.11	CASP1 CASP10 CASP8 CASP9 TRADD

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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

¹ BioSystems

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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Cholestasis, Benign Recurrent Intrahepatic, 2 (BRIC2)

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 2

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