Hypercholanemia, Familial disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

FHCA MCID: HYP279 MIFTS: 31	Hypercholanemia, Familial (FHCA) Categories: 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 Hypercholanemia, Familial

MalaCards integrated aliases for Hypercholanemia, Familial:

Name: Hypercholanemia, Familial ⁵⁷ ²⁹ ¹³ ⁶ ³⁹ ⁷¹

Familial Hypercholanemia ⁵⁸ ⁷³ ³⁶

Fhca ⁵⁷ ⁷³

Hereditary Hypercholanemia ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

familial hypercholanemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient

HPO:

³¹

hypercholanemia, familial:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Liver diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

OMIM® ⁵⁷ 607748

KEGG ³⁶ H01935

MeSH ⁴⁴ D008286

UMLS via Orphanet ⁷² C1843139

Orphanet ⁵⁸ ORPHA238475

MedGen ⁴¹ C1843139

SNOMED-CT via HPO ⁶⁸ 258211005 27868004 279333002 more

UMLS ⁷¹ C1843139

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Summaries for Hypercholanemia, Familial

KEGG : ³⁶ Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation.

MalaCards based summary : Hypercholanemia, Familial, also known as familial hypercholanemia, is related to cystic fibrosis and atp8b1 deficiency. An important gene associated with Hypercholanemia, Familial is TJP2 (Tight Junction Protein 2), and among its related pathways/superpathways is Bile secretion. Affiliated tissues include liver and breast, and related phenotypes are failure to thrive and rickets

UniProtKB/Swiss-Prot : ⁷³ Familial hypercholanemia: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.

More information from OMIM: 607748

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Related Diseases for Hypercholanemia, Familial

Diseases related to Hypercholanemia, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	cystic fibrosis	10.0
2	atp8b1 deficiency	10.0
3	cholestasis, progressive familial intrahepatic, 4	9.4	TJP2 BAAT

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Symptoms & Phenotypes for Hypercholanemia, Familial

Human phenotypes related to Hypercholanemia, Familial:

³¹ (show all 6)

#	Description	HPO Source Accession
1	failure to thrive ³¹	HP:0001508
2	rickets ³¹	HP:0002748
3	steatorrhea ³¹	HP:0002570
4	pruritus ³¹	HP:0000989
5	low levels of vitamin k ³¹	HP:0011892
6	increased serum bile acid concentration ³¹	HP:0012202

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Abdomen Liver:
hypercholanemia

Laboratory Abnormalities:
elevated serum bile acids (hypercholanemia)

Clinical features from OMIM®:

607748 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Hypercholanemia, Familial according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased Hepatitis C virus replication	GR00180-A-1	8.8	BAAT TJP2
2	Decreased Hepatitis C virus replication	GR00180-A-2	8.8	BAAT

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Drugs & Therapeutics for Hypercholanemia, Familial

Search Clinical Trials , NIH Clinical Center for Hypercholanemia, Familial

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Genetic Tests for Hypercholanemia, Familial

Genetic tests related to Hypercholanemia, Familial:

#	Genetic test	Affiliating Genes
1	Hypercholanemia, Familial ²⁹	BAAT EPHX1 TJP2

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Anatomical Context for Hypercholanemia, Familial

MalaCards organs/tissues related to Hypercholanemia, Familial:

⁴⁰

Liver, Breast

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Publications for Hypercholanemia, Familial

Articles related to Hypercholanemia, Familial:

#	Title	Authors	PMID	Year
1	Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia. ⁵⁷ ⁶	Zhu QS...Levy D	12878321	2003
2	Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. ⁶ ⁵⁷	Carlton VE...Bull LN	12704386	2003
3	Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. ⁵⁷	Morton DH...Knisely AS	10889168	2000
4	Hepatic basolateral sodium-dependent-bile acid transporter expression in two unusual cases of hypercholanemia and in extrahepatic biliary atresia. ⁵⁷	Shneider BL...Mowat AP	9141436	1997
5	Methylofuran is a prosthetic group of the formyltransferase/hydrolase complex and shuttles one-carbon units between two active sites. ⁶¹	Hemmann JL...Vorholt JA	31776258	2019
6	Association between Health Behaviors and a Family History of Cancer among Korean Women. ⁶¹	Ham Y...Kim MK	26511810	2016
7	Fetal placental inflammation is associated with poor neonatal growth of preterm infants: a case-control study. ⁶¹	Trevisanuto D...Zanardo V	23560517	2013
8	Induction of tumor cell death through targeting tubulin and evoking dysregulation of cell cycle regulatory proteins by multifunctional cinnamaldehydes. ⁶¹	Nagle AA...Chew EH	23185555	2012
9	Generation of formate by the formyltransferase/hydrolase complex (Fhc) from Methylobacterium extorquens AM1. ⁶¹	Pomper BK...Vorholt JA	12123819	2002
10	Serum steroid binding proteins and the bioavailability of estradiol in relation to breast diseases. ⁶¹	Langley MS...Anderson DC	3863985	1985

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Genes for Hypercholanemia, Familial

Genes related to Hypercholanemia, Familial (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TJP2	Tight Junction Protein 2	Protein Coding	1682.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	12704386
2	BAAT	Bile Acid-CoA:Amino Acid N-Acyltransferase	Protein Coding	1659.1	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	12704386
3	EPHX1	Epoxide Hydrolase 1	Protein Coding	1406.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Variants (show sections)	12878321

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Variations for Hypercholanemia, Familial

ClinVar genetic disease variations for Hypercholanemia, Familial:

⁶ (show top 50) (show all 90)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TJP2	NM_004817.4(TJP2):c.143T>C (p.Val48Ala)	SNV	Pathogenic	2907	rs121918299	9:71831283-71831283	9:69216367-69216367
2	BAAT	NM_001701.4(BAAT):c.226A>G (p.Met76Val)	SNV	Pathogenic	6720	rs28937579	9:104133461-104133461	9:101371179-101371179
3	EPHX1	EPHX1, -4238T-A	SNV	Pathogenic	16606
4	EPHX1	EPHX1, 2557C-G	SNV	Pathogenic	16607
5	TJP2	NM_004817.4(TJP2):c.1056+2T>C	SNV	Likely pathogenic	489223	rs1278244243	9:71840325-71840325	9:69225409-69225409
6	TJP2	NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)	SNV	Likely pathogenic	367235	rs376663560	9:71867780-71867780	9:69252864-69252864
7	TJP2	NM_004817.4(TJP2):c.185C>T (p.Thr62Met)	SNV	Likely pathogenic	165403	rs138241615	9:71831325-71831325	9:69216409-69216409
8	TJP2	NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)	SNV	Uncertain significance	178543	rs199761505	9:71842728-71842728	9:69227812-69227812
9	BAAT	NM_001701.4(BAAT):c.*95C>T	SNV	Uncertain significance	913862		9:104124615-104124615	9:101362333-101362333
10	BAAT	NM_001701.4(BAAT):c.761C>T (p.Thr254Met)	SNV	Uncertain significance	191236	rs768526453	9:104125206-104125206	9:101362924-101362924
11	EPHX1	NM_000120.4(EPHX1):c.823A>G (p.Thr275Ala)	SNV	Uncertain significance	561152	rs35073925	1:226027630-226027630	1:225839929-225839929
12	BAAT	NM_001701.4(BAAT):c.1186G>T (p.Glu396Ter)	SNV	Uncertain significance	632531	rs371796700	9:104124781-104124781	9:101362499-101362499
13	BAAT	NM_001701.4(BAAT):c.*1139T>G	SNV	Uncertain significance	364260	rs188189145	9:104123571-104123571	9:101361289-101361289
14	BAAT	NM_001701.4(BAAT):c.473G>T (p.Gly158Val)	SNV	Uncertain significance	364279	rs746409843	9:104130598-104130598	9:101368316-101368316
15	BAAT	NM_001701.4(BAAT):c.264A>G (p.Leu88=)	SNV	Uncertain significance	364281	rs886063284	9:104133423-104133423	9:101371141-101371141
16	BAAT	NM_001701.4(BAAT):c.-59-14C>A	SNV	Uncertain significance	364283	rs777417694	9:104133759-104133759	9:101371477-101371477
17	BAAT	NM_001701.4(BAAT):c.*1575T>G	SNV	Uncertain significance	364252	rs886063281	9:104123135-104123135	9:101360853-101360853
18	BAAT	NM_001701.4(BAAT):c.*1136A>G	SNV	Uncertain significance	364261	rs886063282	9:104123574-104123574	9:101361292-101361292
19	BAAT	NM_001701.4(BAAT):c.178C>T (p.Leu60=)	SNV	Uncertain significance	364282	rs374248798	9:104133509-104133509	9:101371227-101371227
20	BAAT	NM_001701.4(BAAT):c.*1030T>A	SNV	Uncertain significance	364264	rs543786788	9:104123680-104123680	9:101361398-101361398
21	BAAT	NM_001701.4(BAAT):c.-209C>T	SNV	Uncertain significance	364287	rs565859257	9:104147286-104147286	9:101385004-101385004
22	BAAT	NM_001701.4(BAAT):c.*199A>T	SNV	Uncertain significance	364273	rs151035029	9:104124511-104124511	9:101362229-101362229
23	BAAT	NM_001701.4(BAAT):c.780C>T (p.Thr260=)	SNV	Uncertain significance	364278	rs886063283	9:104125187-104125187	9:101362905-101362905
24	BAAT	NM_001701.4(BAAT):c.-208C>T	SNV	Uncertain significance	364286	rs886063286	9:104147285-104147285	9:101385003-101385003
25	BAAT	NM_001701.4(BAAT):c.*1890C>A	SNV	Uncertain significance	364247	rs886063280	9:104122820-104122820	9:101360538-101360538
26	BAAT	NM_001701.4(BAAT):c.1135G>A (p.Asp379Asn)	SNV	Uncertain significance	364276	rs765307307	9:104124832-104124832	9:101362550-101362550
27	BAAT	NM_001701.4(BAAT):c.*1218A>G	SNV	Uncertain significance	364256	rs550241219	9:104123492-104123492	9:101361210-101361210
28	BAAT	NM_001701.4(BAAT):c.-183T>A	SNV	Uncertain significance	364285	rs886063285	9:104147260-104147260	9:101384978-101384978
29	BAAT	NM_001701.4(BAAT):c.*1864G>T	SNV	Uncertain significance	912310		9:104122846-104122846	9:101360564-101360564
30	BAAT	NM_001701.4(BAAT):c.*1828C>T	SNV	Uncertain significance	912311		9:104122882-104122882	9:101360600-101360600
31	BAAT	NM_001701.4(BAAT):c.*1712G>C	SNV	Uncertain significance	912312		9:104122998-104122998	9:101360716-101360716
32	BAAT	NM_001701.4(BAAT):c.*831A>G	SNV	Uncertain significance	912350		9:104123879-104123879	9:101361597-101361597
33	BAAT	NM_001701.4(BAAT):c.*668A>G	SNV	Uncertain significance	912351		9:104124042-104124042	9:101361760-101361760
34	BAAT	NM_001701.4(BAAT):c.*660G>T	SNV	Uncertain significance	912352		9:104124050-104124050	9:101361768-101361768
35	BAAT	NM_001701.4(BAAT):c.*573G>T	SNV	Uncertain significance	912354		9:104124137-104124137	9:101361855-101361855
36	BAAT	NM_001701.4(BAAT):c.390G>T (p.Arg130Ser)	SNV	Uncertain significance	912408		9:104133297-104133297	9:101371015-101371015
37	BAAT	NM_001701.4(BAAT):c.147C>T (p.His49=)	SNV	Uncertain significance	912409		9:104133540-104133540	9:101371258-101371258
38	BAAT	NM_001701.4(BAAT):c.126C>A (p.Asp42Glu)	SNV	Uncertain significance	912410		9:104133561-104133561	9:101371279-101371279
39	BAAT	NM_001701.4(BAAT):c.*1597C>A	SNV	Uncertain significance	913431		9:104123113-104123113	9:101360831-101360831
40	BAAT	NM_001701.4(BAAT):c.*1557C>A	SNV	Uncertain significance	913432		9:104123153-104123153	9:101360871-101360871
41	BAAT	NM_001701.4(BAAT):c.*1528C>A	SNV	Uncertain significance	913433		9:104123182-104123182	9:101360900-101360900
42	BAAT	NM_001701.4(BAAT):c.*1422A>G	SNV	Uncertain significance	913434		9:104123288-104123288	9:101361006-101361006
43	BAAT	NM_001701.4(BAAT):c.*538T>C	SNV	Uncertain significance	913483		9:104124172-104124172	9:101361890-101361890
44	BAAT	NM_001701.4(BAAT):c.*426A>G	SNV	Uncertain significance	913484		9:104124284-104124284	9:101362002-101362002
45	BAAT	NM_001701.4(BAAT):c.*365T>C	SNV	Uncertain significance	913485		9:104124345-104124345	9:101362063-101362063
46	BAAT	NM_001701.4(BAAT):c.*224A>T	SNV	Uncertain significance	913487		9:104124486-104124486	9:101362204-101362204
47	BAAT	NM_001701.4(BAAT):c.22C>G (p.Pro8Ala)	SNV	Uncertain significance	913526		9:104133665-104133665	9:101371383-101371383
48	BAAT	NM_001701.4(BAAT):c.17C>T (p.Ala6Val)	SNV	Uncertain significance	913527		9:104133670-104133670	9:101371388-101371388
49	BAAT	NM_001701.4(BAAT):c.-92C>T	SNV	Uncertain significance	913528		9:104147169-104147169	9:101384887-101384887
50	BAAT	NM_001701.4(BAAT):c.-176C>T	SNV	Uncertain significance	913529		9:104147253-104147253	9:101384971-101384971

UniProtKB/Swiss-Prot genetic disease variations for Hypercholanemia, Familial:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	BAAT	p.Met76Val	VAR_023737	rs28937579
2	TJP2	p.Val48Ala	VAR_016004	rs121918299

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Expression for Hypercholanemia, Familial

Search GEO for disease gene expression data for Hypercholanemia, Familial.

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Pathways for Hypercholanemia, Familial

Pathways related to Hypercholanemia, Familial according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Bile secretion	hsa04976

Pathways related to Hypercholanemia, Familial according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Bile secretion ³⁶	10.58	EPHX1 BAAT

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GO Terms for Hypercholanemia, Familial

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Sources for Hypercholanemia, Familial

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

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¹⁰ dbSNP

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¹² Disease Ontology

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²⁰ GARD

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

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³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hypercholanemia, Familial (FHCA)

Aliases & Classifications for Hypercholanemia, Familial

MalaCards integrated aliases for Hypercholanemia, Familial:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Hypercholanemia, Familial

Related Diseases for Hypercholanemia, Familial

Diseases related to Hypercholanemia, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Hypercholanemia, Familial

Human phenotypes related to Hypercholanemia, Familial:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Hypercholanemia, Familial according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Hypercholanemia, Familial

Genetic Tests for Hypercholanemia, Familial

Genetic tests related to Hypercholanemia, Familial:

Anatomical Context for Hypercholanemia, Familial

MalaCards organs/tissues related to Hypercholanemia, Familial:

Publications for Hypercholanemia, Familial

Articles related to Hypercholanemia, Familial:

Genes for Hypercholanemia, Familial

Genes related to Hypercholanemia, Familial (3 elite genes):

Variations for Hypercholanemia, Familial

ClinVar genetic disease variations for Hypercholanemia, Familial:

UniProtKB/Swiss-Prot genetic disease variations for Hypercholanemia, Familial:

Expression for Hypercholanemia, Familial

Pathways for Hypercholanemia, Familial

Pathways related to Hypercholanemia, Familial according to KEGG:

Pathways related to Hypercholanemia, Familial according to GeneCards Suite gene sharing:

GO Terms for Hypercholanemia, Familial

Sources for Hypercholanemia, Familial