FHCA2
MCID: HYP873
MIFTS: 23

Hypercholanemia, Familial, 2 (FHCA2)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hypercholanemia, Familial, 2

MalaCards integrated aliases for Hypercholanemia, Familial, 2:

Name: Hypercholanemia, Familial, 2 57 6
Hypercholanemia, Familial 2 57
Ntcp Deficiency 57
Fhca2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
most patients are clinically asymptomatic
the s267f allele is prevalent among individuals of east asian origin


Classifications:



External Ids:

OMIM® 57 619256
OMIM Phenotypic Series 57 PS607748

Summaries for Hypercholanemia, Familial, 2

OMIM® : 57 Familial hypercholanemia-2 (FHCA2) is an autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT) (summary by Deng et al., 2016 and Liu et al., 2017). For a discussion of genetic heterogeneity of FHCA, see FHCA1 (607748). (619256) (Updated 20-May-2021)

MalaCards based summary : Hypercholanemia, Familial, 2, also known as hypercholanemia, familial 2, is related to cholestasis and body mass index quantitative trait locus 11. An important gene associated with Hypercholanemia, Familial, 2 is SLC10A1 (Solute Carrier Family 10 Member 1). Affiliated tissues include liver and bone.

Related Diseases for Hypercholanemia, Familial, 2

Graphical network of the top 20 diseases related to Hypercholanemia, Familial, 2:



Diseases related to Hypercholanemia, Familial, 2

Symptoms & Phenotypes for Hypercholanemia, Familial, 2

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
osteopenia
decreased bone mineral density

Head And Neck Eyes:
jaundice sclerae, transient (in some patients)

Hematology:
prolonged prothrombin time (in some patients)

Abdomen Liver:
normal liver function
hepatomegaly, transient (in some patients)
cholestasis, transient (in some patients)
inflammation seen on liver biopsy, transient (in some patients)

Skin Nails Hair Skin:
jaundice, transient (in some patients)

Laboratory Abnormalities:
increased plasma conjugated bile salt levels
decreased levels of fat-soluble vitamins (d, k, a)

Clinical features from OMIM®:

619256 (Updated 20-May-2021)

Drugs & Therapeutics for Hypercholanemia, Familial, 2

Search Clinical Trials , NIH Clinical Center for Hypercholanemia, Familial, 2

Genetic Tests for Hypercholanemia, Familial, 2

Anatomical Context for Hypercholanemia, Familial, 2

MalaCards organs/tissues related to Hypercholanemia, Familial, 2:

40
Liver, Bone

Publications for Hypercholanemia, Familial, 2

Articles related to Hypercholanemia, Familial, 2:

(show all 22)
# Title Authors PMID Year
1
[Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency]. 6 57 61
29658451 2018
2
Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency. 61 57 6
27882152 2016
3
Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine. 6 57
28835676 2017
4
Increased sulfation of bile acids in mice and human subjects with sodium taurocholate cotransporting polypeptide deficiency. 61 57
31201272 2019
5
Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia. 57 61
29290974 2017
6
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype. 57 61
24867799 2015
7
The p.Ser267Phe variant in SLC10A1 is associated with resistance to chronic hepatitis B. 6
25418280 2015
8
Ethnicity-dependent polymorphism in Na+-taurocholate cotransporting polypeptide (SLC10A1) reveals a domain critical for bile acid substrate recognition. 6
14660639 2004
9
Integrated plasma and liver gas chromatography mass spectrometry and liquid chromatography mass spectrometry metabolomics to reveal physiological functions of sodium taurocholate cotransporting polypeptide (NTCP) with an Ntcp knockout mouse model. 61
33545502 2021
10
NTCP Deficiency Causes Gallbladder Abnormalities in Mice and Human Beings. 61
32919083 2021
11
Abnormal Bilirubin Metabolism in Patients With Sodium Taurocholate Cotransporting Polypeptide Deficiency. 61
33093374 2020
12
Abnormal Bilirubin Metabolism in Patients with Sodium Taurocholate Cotransporting Polypeptide Deficiency. 61
32796433 2020
13
Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg). 61
31661128 2019
14
Clinical and histopathologic features of sodium taurocholate cotransporting polypeptide deficiency in pediatric patients. 61
31574858 2019
15
NTCP deficiency in mice protects against obesity and hepatosteatosis. 61
31237863 2019
16
Intrahepatic Cholestasis of Pregnancy as a Clinical Manifestation of Sodium-Taurocholate Cotransporting Polypeptide Deficiency. 61
31142693 2019
17
Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases. 61
31788003 2019
18
Monozygotic Twins Suffering From Sodium Taurocholate Cotransporting Polypeptide Deficiency: A Case Report. 61
30525015 2018
19
NTCP deficiency and persistently raised bile salts: an adult case. 61
28283843 2017
20
[Sodium taurocholate cotransporting polypeptide deficiency manifesting as cholestatic jaundice in early infancy: a complicated case study]. 61
28302211 2017
21
Impaired uptake of conjugated bile acids and hepatitis b virus pres1-binding in na(+) -taurocholate cotransporting polypeptide knockout mice. 61
25641256 2015
22
NTCP deficiency: a new inherited disease of bile acid transport. 61
25193235 2015

Variations for Hypercholanemia, Familial, 2

ClinVar genetic disease variations for Hypercholanemia, Familial, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC10A1 NM_003049.4(SLC10A1):c.755G>A (p.Arg252His) SNV Pathogenic 501945 rs147226818 GRCh37: 14:70245238-70245238
GRCh38: 14:69778521-69778521
2 SLC10A1 NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe) SNV Pathogenic 501461 rs2296651 GRCh37: 14:70245193-70245193
GRCh38: 14:69778476-69778476
3 SLC10A1 NM_003049.4(SLC10A1):c.263T>C (p.Ile88Thr) SNV Pathogenic 598530 rs148467625 GRCh37: 14:70263610-70263610
GRCh38: 14:69796893-69796893

Expression for Hypercholanemia, Familial, 2

Search GEO for disease gene expression data for Hypercholanemia, Familial, 2.

Pathways for Hypercholanemia, Familial, 2

GO Terms for Hypercholanemia, Familial, 2

Sources for Hypercholanemia, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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