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Hypercholanemia, familial 1(FHCA1)

MedGen UID:
1781366
Concept ID:
C5542604
Disease or Syndrome
Synonyms: BAAT-Related Familial Hypercholanemia; FHCA1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): TJP2 (9q21.11)
 
Monarch Initiative: MONDO:0031446
OMIM®: 607748
Orphanet: ORPHA238475

Definition

Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy (Morton et al., 2000; Shneider et al., 1997; summary by Carlton et al., 2003). See also bile acid conjugation defect-1 (BACD1; 619232), which can also show increased bile acid levels, although the bile acids in BACD1 are unconjugated. Genetic Heterogeneity of FHCA See FHCA2 (619256), caused by mutation in the SLC10A1 gene (182396) on chromosome 14q24. [from OMIM]

Clinical features

From HPO
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Steatorrhea
MedGen UID:
20948
Concept ID:
C0038238
Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Fat malabsorption
MedGen UID:
108215
Concept ID:
C0554103
Pathologic Function
Abnormality of the absorption of fat from the gastrointestinal tract.
Rickets
MedGen UID:
48470
Concept ID:
C0035579
Disease or Syndrome
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
Increased serum bile acid concentration
MedGen UID:
868605
Concept ID:
C4023004
Finding
An increase in the concentration of bile acid in the blood.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Benedek P, Eriksson M, Duvefelt K, Freyschuss A, Frick M, Lundman P, Nylund L, Szummer K
J Intern Med 2018 Dec;284(6):674-684. Epub 2018 Jul 29 doi: 10.1111/joim.12812. PMID: 29974534

Recent clinical studies

Etiology

He Y, Zhang X, Shao Y, Xu B, Cui Y, Chen X, Chen H, Luo C, Ding M
Biochim Biophys Acta Mol Basis Dis 2022 Jan 1;1868(1):166269. Epub 2021 Sep 17 doi: 10.1016/j.bbadis.2021.166269. PMID: 34537368

Diagnosis

He Y, Zhang X, Shao Y, Xu B, Cui Y, Chen X, Chen H, Luo C, Ding M
Biochim Biophys Acta Mol Basis Dis 2022 Jan 1;1868(1):166269. Epub 2021 Sep 17 doi: 10.1016/j.bbadis.2021.166269. PMID: 34537368
Naik J, de Waart DR, Utsunomiya K, Duijst S, Mok KH, Oude Elferink RP, Bosma PJ, Paulusma CC
Dig Dis 2015;33(3):314-8. Epub 2015 May 27 doi: 10.1159/000371665. PMID: 26045263

Therapy

Naik J, de Waart DR, Utsunomiya K, Duijst S, Mok KH, Oude Elferink RP, Bosma PJ, Paulusma CC
Dig Dis 2015;33(3):314-8. Epub 2015 May 27 doi: 10.1159/000371665. PMID: 26045263

Clinical prediction guides

Benedek P, Eriksson M, Duvefelt K, Freyschuss A, Frick M, Lundman P, Nylund L, Szummer K
J Intern Med 2018 Dec;284(6):674-684. Epub 2018 Jul 29 doi: 10.1111/joim.12812. PMID: 29974534
Naik J, de Waart DR, Utsunomiya K, Duijst S, Mok KH, Oude Elferink RP, Bosma PJ, Paulusma CC
Dig Dis 2015;33(3):314-8. Epub 2015 May 27 doi: 10.1159/000371665. PMID: 26045263

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