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

BRIC2 MCID: CHL118 MIFTS: 43	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

Sources

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 2

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

Name: Cholestasis, Benign Recurrent Intrahepatic, 2 ⁵⁷ ⁷⁴ ¹³

Benign Recurrent Intrahepatic Cholestasis 2 ¹² ⁵³ ²⁹ ⁶ ¹⁵

Bric2 ⁵⁷ ¹² ⁵³ ⁵⁹ ⁷⁴

Cholestasis, Benign Recurrent Intrahepatic 2 ⁵³ ⁷²

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

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:

Disease Ontology ¹² DOID:0070232

OMIM ⁵⁷ 605479 PS243300

MeSH ⁴⁴ D002780

MESH via Orphanet ⁴⁵ C535931

ICD10 via Orphanet ³⁴ K83.1

UMLS via Orphanet ⁷³ C2608083 C3489789

Orphanet ⁵⁹ ORPHA99961

MedGen ⁴² C2608083

UMLS ⁷² C2608083 C3489789

Sources

Summaries for Cholestasis, Benign Recurrent Intrahepatic, 2

UniProtKB/Swiss-Prot : ⁷⁴ 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 pancreas, 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 : 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)

Sources

Related Diseases for Cholestasis, Benign Recurrent Intrahepatic, 2

Diseases in the 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	Progressive Familial Intrahepatic Cholestasis

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

(show all 27)

#	Related Disease	Score	Top Affiliating Genes
1	cholestasis, benign recurrent intrahepatic, 1	33.0	ATP8B1 ABCB11
2	cholestasis, progressive familial intrahepatic, 2	31.2	ATP8B1 ABCB11
3	atp8b1 deficiency	30.8	ATP8B1 ABCB11
4	progressive familial intrahepatic cholestasis	30.6	ATP8B1 ABCB11
5	cholestasis, progressive familial intrahepatic, 4	10.4	ATP8B1 ABCB11
6	cholestasis, progressive familial intrahepatic, 3	10.4	ATP8B1 ABCB11
7	cholestasis	10.3
8	alagille syndrome 1	10.3	ATP8B1 ABCB11
9	cholestasis, progressive familial intrahepatic, 1	10.3	ATP8B1 ABCB11
10	bile duct disease	10.2	ATP8B1 ABCB11
11	liver cirrhosis	10.2
12	growth hormone deficiency	10.2
13	familial intrahepatic cholestasis	10.2
14	autosomal recessive disease	10.1
15	cholelithiasis	10.1
16	steatorrhea	10.1
17	hepatitis a	10.1
18	biliary tract disease	10.1	ATP8B1 ABCB11
19	caspase 8 deficiency	10.1	CASP8 CASP10
20	juvenile amyotrophic lateral sclerosis	10.0	CASP8 CASP10
21	cowpox	10.0	CASP8 CASP1
22	chlamydia	9.7	MCL1 CASP1
23	dystrophinopathies	9.7	CASP9 CASP8
24	cardiomyopathy, familial hypertrophic, 1	9.7	CASP10 CASP1
25	chronic mountain sickness	9.7	CASP9 CASP8
26	lymphoma, non-hodgkin, familial	9.5	MCL1 CASP8 CASP10
27	myeloma, multiple	9.1	MCL1 CASP9 CASP8

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

Sources

Symptoms & Phenotypes for Cholestasis, Benign Recurrent Intrahepatic, 2

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

³² (show all 7)

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

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

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

Sources

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic, 2

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

Sources

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

Sources

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 2

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

⁴¹

Liver, Pancreas

Sources

Publications for Cholestasis, Benign Recurrent Intrahepatic, 2

Articles related to Cholestasis, Benign Recurrent Intrahepatic, 2:

(show all 14)

#	Title	Authors	PMID	Year
1	Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. ³⁸ ⁸ ⁷¹	Noe J...Pauli-Magnus C	16039748	2005
2	Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. ⁸ ⁷¹	van Mil SW...Klomp LW	15300568	2004
3	ATP8B1 Deficiency ⁷¹	Knisely AS...Shneider BL	20301474	2001
4	Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. ⁷¹	Jansen PL...Muller M	10579978	1999
5	A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. ⁷¹	Strautnieks SS...Thompson RJ	9806540	1998
6	Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations. ³⁸	Sohn MJ...Ko JS	30899697	2019
7	Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption. ³⁸	Hayashi H...Kusuhara H	26223708	2016
8	Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations. ³⁸	Soroka CJ...Boyer JL	23685087	2014
9	The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. ³⁸	Lam P...Boyer JL	20422495	2010
10	Characterization of apoptotic activities during chlamydia trachomatis infection in primary cervical epithelial cells. ³⁸	Vats V...Mittal A	20840054	2010
11	Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. ³⁸	Kagawa T...Mine T	17947449	2008
12	Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. ³⁸	Lam P...Boyer JL	17855769	2007
13	Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. ³⁸	Takahashi A...Kuwano H	18049162	2007
14	A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. ³⁸	Lam CW...Tong SF	16290310	2006

Sources

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	1686.83	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16039748 10579978 15300568 (more) 9806540 20301474
2	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	16.9	DISEASES inferred ¹⁵
3	CASP10	Caspase 10	Protein Coding	15.26	DISEASES inferred ¹⁵
4	TRADD	TNFRSF1A Associated Via Death Domain	Protein Coding	15.19	DISEASES inferred ¹⁵
5	CASP1	Caspase 1	Protein Coding	13.68	DISEASES inferred ¹⁵
6	MCL1	MCL1 Apoptosis Regulator, BCL2 Family Member	Protein Coding	13.53	DISEASES inferred ¹⁵
7	CASP8	Caspase 8	Protein Coding	13.32	DISEASES inferred ¹⁵
8	CASP9	Caspase 9	Protein Coding	13.21	DISEASES inferred ¹⁵
9	NAT9	N-Acetyltransferase 9 (Putative)	Protein Coding	4.69	DISEASES inferred ¹⁵

Sources

Variations for Cholestasis, Benign Recurrent Intrahepatic, 2

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	ABCB11	NM_003742.4(ABCB11): c.890A> G (p.Glu297Gly)	single nucleotide variant	Pathogenic	rs11568372	2:169847329-169847329	2:168990819-168990819
2	ABCB11	NM_003742.4(ABCB11): c.1295G> C (p.Arg432Thr)	single nucleotide variant	Pathogenic	rs121908935	2:169833100-169833100	2:168976590-168976590
3	ABCB11	NM_003742.4(ABCB11): c.2380C> T (p.Gln794Ter)	single nucleotide variant	Pathogenic	rs1060499579	2:169801435-169801435	2:168944925-168944925
4	ABCB11	NM_003742.4(ABCB11): c.2012-8T> G	single nucleotide variant	Pathogenic/Likely pathogenic	rs769910565	2:169825008-169825008	2:168968498-168968498
5	ABCB11	NM_003742.4(ABCB11): c.1460G> A (p.Arg487His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs188824058	2:169828535-169828535	2:168972025-168972025
6	ABCB11	NM_003742.4(ABCB11): c.3326T> C (p.Leu1109Pro)	single nucleotide variant	Uncertain significance	rs1553545883	2:169787260-169787260	2:168930750-168930750
7	ABCB11	NM_003742.4(ABCB11): c.2125G> A (p.Glu709Lys)	single nucleotide variant	Uncertain significance	rs201800225	2:169820769-169820769	2:168964259-168964259

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

⁷⁴

#	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

Sources

Expression for Cholestasis, Benign Recurrent Intrahepatic, 2

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

Sources

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 ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.79	TRADD MCL1 CASP9 CASP8
2	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	12.78	TRADD CASP9 CASP8 CASP10 CASP1
3	Human cytomegalovirus infection ³⁷ Show member pathways Human immunodeficiency virus 1 infection ³⁷ Kaposi sarcoma-associated herpesvirus infection ³⁷	12.76	TRADD CASP9 CASP8 CASP10
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	TRADD CASP9 CASP8 CASP10 CASP1
5	MAPK signaling pathway ³⁷ ¹	12.61	TRADD CASP9 CASP8 CASP1
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	TRADD CASP8 CASP10 CASP1
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	12.53	CASP9 CASP8 CASP10 CASP1
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	TRADD MCL1 CASP9 CASP8
9	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	12.36	TRADD CASP9 CASP8 CASP10 CASP1
10	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ³⁷ Apoptosis ¹ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁵ Death Receptor Signaling ⁶⁷	12.33	TRADD MCL1 CASP9 CASP8 CASP10 CASP1
11	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways BMP Pathway ⁶⁴ Calpain Protease Regulates Cellular Mechanics 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	12.32	TRADD CASP9 CASP8 CASP10 CASP1
12	Apoptosis Pathway ⁷¹ Show member pathways Akt Pathway ⁷¹ NF-kappaB Pathway ⁷¹	12.26	CASP9 CASP8 CASP10
13	TNF signaling (REACTOME) ⁶⁶ Show member pathways Death Receptor Signalling ⁶⁶ Regulation of TNFR1 signaling ⁶⁶ TNF receptor signaling pathway ¹ TNFR1-induced NFkappaB signaling pathway ⁶⁶ TNFR1-induced proapoptotic signaling ⁶⁶ TNFR1-mediated ceramide production ⁶⁶	12.16	TRADD CASP8 CASP10
14	Regulation by c-FLIP ⁶⁶ Show member pathways CASP8 activity is inhibited ⁶⁶ Caspase activation via extrinsic apoptotic signalling pathway ⁶⁶ Dimerization of procaspase-8 ⁶⁶ FAS (CD95) signaling pathway ¹ Ligand-dependent caspase activation ⁶⁶ Ligand-independent caspase activation via DCC ⁶⁶ Regulated Necrosis ⁶⁶ Regulation of necroptotic cell death ⁶⁶ RIPK1-mediated regulated necrosis ⁶⁶ TRAIL signaling ⁶⁶ TRAIL signaling pathway ¹	12.14	TRADD CASP9 CASP8 CASP10
15	Necroptosis ³⁷ Show member pathways Nanoparticle triggered regulated necrosis ¹	12.06	TRADD CASP8 CASP1
16	Tuberculosis ³⁷	12.05	TRADD CASP9 CASP8 CASP10
17	p53 Signaling ⁶⁴ Show member pathways p53 Pathway ⁶⁷	12.03	CASP9 CASP8 CASP10 CASP1
18	Integrated Breast Cancer Pathway ¹	12.01	TRADD CASP9 CASP8
19	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	TRADD CASP9 CASP8
20	Direct p53 effectors ¹	11.92	MCL1 CASP10 CASP1
21	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	TRADD CASP9 CASP8 CASP10 CASP1
22	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	CASP9 CASP8 CASP1
23	TNF signaling pathway ³⁷	11.83	TRADD CASP8 CASP10
24	Presenilin-Mediated Signaling ⁶⁴	11.82	CASP9 CASP8 CASP10 CASP1
25	G-protein signaling N-RAS regulation pathway ²² Show member pathways Immune response Antigen presentation by MHC class II ²²	11.77	CASP9 CASP8 CASP10 CASP1
26	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	11.69	MCL1 CASP9 CASP8
27	S-1P Stimulated Signaling ⁶⁴	11.69	CASP9 CASP8 CASP10 CASP1
28	VEGF Pathway (Tocris) ⁶¹ Show member pathways VEGF Pathway ⁷¹	11.68	CASP9 CASP8 CASP10
29	Apoptosis and Autophagy ⁴	11.62	TRADD MCL1 CASP9 CASP8 CASP1
30	AGE/RAGE pathway ¹	11.5	CASP9 CASP8
31	Legionellosis ³⁷	11.48	CASP9 CASP8 CASP1
32	A-beta Signaling Pathways ⁶⁵	11.46	TRADD CASP8 CASP10
33	Granzyme Pathway ⁶⁴ Show member pathways Granzyme-B Pathway ⁶⁴	11.37	CASP9 CASP8
34	Integrated Cancer Pathway ¹	11.34	CASP9 CASP8
35	Ceramide signaling pathway ¹	11.32	TRADD CASP8
36	Nucleotide-binding Oligomerization Domain (NOD) pathway ¹	11.31	CASP9 CASP8 CASP1
37	all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴	11.3	CASP9 CASP8
38	Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins ²² Show member pathways Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization ⁶⁶	11.3	MCL1 CASP9 CASP8
39	TNF Signaling (sino) ⁶⁷	11.26	CASP9 CASP8 CASP10
40	Ceramide Pathway ⁶⁴ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁴	11.11	TRADD CASP9 CASP8 CASP10 CASP1

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	death-inducing signaling complex	GO:0031264	9.26	TRADD CASP8
2	ripoptosome	GO:0097342	9.16	CASP8 CASP10
3	protein-containing complex	GO:0032991	9.02	TRADD NAT9 CASP9 CASP8 CASP1
4	CD95 death-inducing signaling complex	GO:0031265	8.96	CASP8 CASP10

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	9.87	CASP9 CASP8 CASP10 CASP1
2	apoptotic process	GO:0006915	9.63	TRADD MCL1 CASP9 CASP8 CASP10 CASP1
3	positive regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043123	9.62	TRADD CASP8 CASP10 CASP1
4	intrinsic apoptotic signaling pathway in response to DNA damage	GO:0008630	9.58	MCL1 CASP9
5	extrinsic apoptotic signaling pathway	GO:0097191	9.58	TRADD CASP8
6	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902042	9.56	TRADD CASP8
7	extrinsic apoptotic signaling pathway via death domain receptors	GO:0008625	9.55	TRADD CASP8
8	extrinsic apoptotic signaling pathway in absence of ligand	GO:0097192	9.54	MCL1 CASP9
9	apoptotic signaling pathway	GO:0097190	9.54	CASP8 CASP10 CASP1
10	response to antibiotic	GO:0046677	9.52	CASP9 CASP8
11	regulation of tumor necrosis factor-mediated signaling pathway	GO:0010803	9.51	TRADD CASP8
12	bile acid and bile salt transport	GO:0015721	9.49	ATP8B1 ABCB11
13	regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902041	9.48	TRADD CASP8
14	regulation of response to DNA damage stimulus	GO:2001020	9.46	MCL1 CASP9
15	death-inducing signaling complex assembly	GO:0071550	9.43	TRADD CASP8
16	execution phase of apoptosis	GO:0097194	9.43	CASP8 CASP10 CASP1
17	response to cobalt ion	GO:0032025	9.4	CASP9 CASP8
18	regulation of apoptotic process	GO:0042981	9.35	MCL1 CASP9 CASP8 CASP10 CASP1
19	activation of cysteine-type endopeptidase activity involved in apoptotic process	GO:0006919	9.02	TRADD CASP9 CASP8 CASP10 CASP1

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	9.73	CASP9 CASP8 CASP10 CASP1
2	peptidase activity	GO:0008233	9.67	CASP9 CASP8 CASP10 CASP1
3	cysteine-type peptidase activity	GO:0008234	9.56	CASP9 CASP8 CASP10 CASP1
4	cysteine-type endopeptidase activity	GO:0004197	9.46	CASP9 CASP8 CASP10 CASP1
5	tumor necrosis factor receptor binding	GO:0005164	9.4	TRADD CASP8
6	death effector domain binding	GO:0035877	9.32	CASP8 CASP10
7	cysteine-type endopeptidase activity involved in apoptotic process	GO:0097153	9.26	CASP9 CASP8 CASP10 CASP1
8	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	GO:0097199	8.92	CASP9 CASP8 CASP10 CASP1

Sources

Sources for Cholestasis, Benign Recurrent Intrahepatic, 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cholestasis, Benign Recurrent Intrahepatic, 2

Related Diseases for Cholestasis, Benign Recurrent Intrahepatic, 2

Diseases in the 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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic, 2

Genetic Tests for Cholestasis, Benign Recurrent Intrahepatic, 2

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

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 2

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

Publications for Cholestasis, Benign Recurrent Intrahepatic, 2

Articles related to Cholestasis, Benign Recurrent Intrahepatic, 2:

Genes for Cholestasis, Benign Recurrent Intrahepatic, 2

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

Variations for Cholestasis, Benign Recurrent Intrahepatic, 2

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

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

Expression for Cholestasis, Benign Recurrent Intrahepatic, 2

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