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Items: 6

1.

Arthrogryposis, renal dysfunction, and cholestasis 1

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene. [from MONDO]

MedGen UID:
347219
Concept ID:
C1859722
Disease or Syndrome
2.

Congenital bile acid synthesis defect 4

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. [from ORDO]

MedGen UID:
388039
Concept ID:
C1858328
Disease or Syndrome
3.

Congenital bile acid synthesis defect 1

Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype. [from OMIM]

MedGen UID:
335883
Concept ID:
C1843116
Disease or Syndrome
4.

Arthrogryposis, renal dysfunction, and cholestasis 2

Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085). [from OMIM]

MedGen UID:
462022
Concept ID:
C3150672
Disease or Syndrome
5.

Cholestasis with gallstone, ataxia, and visual disturbance

MedGen UID:
347812
Concept ID:
C1859161
Disease or Syndrome
6.

Giant cell hepatitis

Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. [from HPO]

MedGen UID:
45030
Concept ID:
C0027613
Disease or Syndrome
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