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

FHCA MCID: HYP279 MIFTS: 30	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 ⁵⁶ ²⁹ ¹³ ⁶ ³⁹ ⁷¹

Familial Hypercholanemia ⁵⁸ ⁷³ ³⁶

Fhca ⁵⁶ ⁷³

Hereditary Hypercholanemia ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

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 ⁵⁶ 607748

KEGG ³⁶ H01935

MeSH ⁴³ 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 atp8b1 deficiency. An important gene associated with Hypercholanemia, Familial is BAAT (Bile Acid-CoA:Amino Acid N-Acyltransferase), 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	atp8b1 deficiency	10.1

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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	pruritus ³¹	HP:0000989
4	steatorrhea ³¹	HP:0002570
5	low levels of vitamin k ³¹	HP:0011892
6	increased serum bile acid concentration ³¹	HP:0012202

Symptoms via clinical synopsis from OMIM:

⁵⁶

Abdomen Liver:
hypercholanemia

Laboratory Abnormalities:
elevated serum bile acids (hypercholanemia)

Clinical features from OMIM:

607748

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

Sources

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. ⁶ ⁵⁶	Zhu QS...Levy D	12878321	2003
2	Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. ⁵⁶ ⁶	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. ⁵⁶	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. ⁵⁶	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	PubmedIds
1	BAAT	Bile Acid-CoA:Amino Acid N-Acyltransferase	Protein Coding	1659.2	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	12704386
2	TJP2	Tight Junction Protein 2	Protein Coding	1657.55	Molecular basis known ⁵⁶ 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	1407	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ 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 88) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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	EPHX1	NM_000120.4(EPHX1):c.823A>G (p.Thr275Ala)	SNV	Uncertain significance	561152	rs35073925	1:226027630-226027630	1:225839929-225839929
7	BAAT	NM_001701.4(BAAT):c.1186G>T (p.Glu396Ter)	SNV	Uncertain significance	632531	rs371796700	9:104124781-104124781	9:101362499-101362499
8	BAAT	NM_001701.4(BAAT):c.*1597C>A	SNV	Uncertain significance	913431		9:104123113-104123113	9:101360831-101360831
9	BAAT	NM_001701.4(BAAT):c.*1864G>T	SNV	Uncertain significance	912310		9:104122846-104122846	9:101360564-101360564
10	BAAT	NM_001701.4(BAAT):c.*1828C>T	SNV	Uncertain significance	912311		9:104122882-104122882	9:101360600-101360600
11	BAAT	NM_001701.4(BAAT):c.*1712G>C	SNV	Uncertain significance	912312		9:104122998-104122998	9:101360716-101360716
12	BAAT	NM_001701.4(BAAT):c.*1557C>A	SNV	Uncertain significance	913432		9:104123153-104123153	9:101360871-101360871
13	BAAT	NM_001701.4(BAAT):c.*1528C>A	SNV	Uncertain significance	913433		9:104123182-104123182	9:101360900-101360900
14	BAAT	NM_001701.4(BAAT):c.*1422A>G	SNV	Uncertain significance	913434		9:104123288-104123288	9:101361006-101361006
15	BAAT	NM_001701.4(BAAT):c.*1341A>G	SNV	Uncertain significance	913811		9:104123369-104123369	9:101361087-101361087
16	BAAT	NM_001701.4(BAAT):c.*1307T>A	SNV	Uncertain significance	913812		9:104123403-104123403	9:101361121-101361121
17	BAAT	NM_001701.4(BAAT):c.*1130A>G	SNV	Uncertain significance	913813		9:104123580-104123580	9:101361298-101361298
18	BAAT	NM_001701.4(BAAT):c.*1041A>G	SNV	Uncertain significance	915070		9:104123669-104123669	9:101361387-101361387
19	BAAT	NM_001701.4(BAAT):c.*936T>C	SNV	Uncertain significance	915071		9:104123774-104123774	9:101361492-101361492
20	BAAT	NM_001701.4(BAAT):c.*831A>G	SNV	Uncertain significance	912350		9:104123879-104123879	9:101361597-101361597
21	BAAT	NM_001701.4(BAAT):c.*668A>G	SNV	Uncertain significance	912351		9:104124042-104124042	9:101361760-101361760
22	BAAT	NM_001701.4(BAAT):c.*660G>T	SNV	Uncertain significance	912352		9:104124050-104124050	9:101361768-101361768
23	TJP2	NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)	SNV	Uncertain significance	178543	rs199761505	9:71842728-71842728	9:69227812-69227812
24	BAAT	NM_001701.4(BAAT):c.761C>T (p.Thr254Met)	SNV	Uncertain significance	191236	rs768526453	9:104125206-104125206	9:101362924-101362924
25	BAAT	NM_001701.4(BAAT):c.1039C>T (p.His347Tyr)	SNV	Uncertain significance	913864		9:104124928-104124928	9:101362646-101362646
26	BAAT	NM_001701.4(BAAT):c.561C>T (p.Ala187=)	SNV	Uncertain significance	915107		9:104130510-104130510	9:101368228-101368228
27	BAAT	NM_001701.4(BAAT):c.558C>T (p.Phe186=)	SNV	Uncertain significance	915108		9:104130513-104130513	9:101368231-101368231
28	BAAT	NM_001701.4(BAAT):c.390G>T (p.Arg130Ser)	SNV	Uncertain significance	912408		9:104133297-104133297	9:101371015-101371015
29	BAAT	NM_001701.4(BAAT):c.147C>T (p.His49=)	SNV	Uncertain significance	912409		9:104133540-104133540	9:101371258-101371258
30	BAAT	NM_001701.4(BAAT):c.126C>A (p.Asp42Glu)	SNV	Uncertain significance	912410		9:104133561-104133561	9:101371279-101371279
31	BAAT	NM_001701.4(BAAT):c.22C>G (p.Pro8Ala)	SNV	Uncertain significance	913526		9:104133665-104133665	9:101371383-101371383
32	BAAT	NM_001701.4(BAAT):c.17C>T (p.Ala6Val)	SNV	Uncertain significance	913527		9:104133670-104133670	9:101371388-101371388
33	BAAT	NM_001701.4(BAAT):c.-92C>T	SNV	Uncertain significance	913528		9:104147169-104147169	9:101384887-101384887
34	BAAT	NM_001701.4(BAAT):c.-176C>T	SNV	Uncertain significance	913529		9:104147253-104147253	9:101384971-101384971
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.*538T>C	SNV	Uncertain significance	913483		9:104124172-104124172	9:101361890-101361890
37	BAAT	NM_001701.4(BAAT):c.*426A>G	SNV	Uncertain significance	913484		9:104124284-104124284	9:101362002-101362002
38	BAAT	NM_001701.4(BAAT):c.*365T>C	SNV	Uncertain significance	913485		9:104124345-104124345	9:101362063-101362063
39	BAAT	NM_001701.4(BAAT):c.*224A>T	SNV	Uncertain significance	913487		9:104124486-104124486	9:101362204-101362204
40	BAAT	NM_001701.4(BAAT):c.*95C>T	SNV	Uncertain significance	913862		9:104124615-104124615	9:101362333-101362333
41	BAAT	NM_001701.4(BAAT):c.*1139T>G	SNV	Uncertain significance	364260	rs188189145	9:104123571-104123571	9:101361289-101361289
42	BAAT	NM_001701.4(BAAT):c.*1136A>G	SNV	Uncertain significance	364261	rs886063282	9:104123574-104123574	9:101361292-101361292
43	BAAT	NM_001701.4(BAAT):c.-59-14C>A	SNV	Uncertain significance	364283	rs777417694	9:104133759-104133759	9:101371477-101371477
44	BAAT	NM_001701.4(BAAT):c.-209C>T	SNV	Uncertain significance	364287	rs565859257	9:104147286-104147286	9:101385004-101385004
45	BAAT	NM_001701.4(BAAT):c.*1890C>A	SNV	Uncertain significance	364247	rs886063280	9:104122820-104122820	9:101360538-101360538
46	BAAT	NM_001701.4(BAAT):c.*1575T>G	SNV	Uncertain significance	364252	rs886063281	9:104123135-104123135	9:101360853-101360853
47	BAAT	NM_001701.4(BAAT):c.*1030T>A	SNV	Uncertain significance	364264	rs543786788	9:104123680-104123680	9:101361398-101361398
48	BAAT	NM_001701.4(BAAT):c.1135G>A (p.Asp379Asn)	SNV	Uncertain significance	364276	rs765307307	9:104124832-104124832	9:101362550-101362550
49	BAAT	NM_001701.4(BAAT):c.780C>T (p.Thr260=)	SNV	Uncertain significance	364278	rs886063283	9:104125187-104125187	9:101362905-101362905
50	BAAT	NM_001701.4(BAAT):c.*1218A>G	SNV	Uncertain significance	364256	rs550241219	9:104123492-104123492	9:101361210-101361210

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

Sources

GO Terms for Hypercholanemia, Familial

Sources

Sources for Hypercholanemia, Familial

¹ BioSystems

² BitterDB

³ CDC

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⁸ Cochrane Library

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¹⁰ dbSNP

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¹² Disease Ontology

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¹⁶ DrugBank

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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

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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

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⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

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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