MeSH Browser

MeSH Supplementary: Arthrogryposis renal dysfunction cholestasis syndrome
Unique ID: C535382
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535382
Entry Term(s): ARC syndrome; ARCS; ARCS1; Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis; Arthrogryposis, Renal Dysfunction, And Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 1
Heading Mapped to: *Arthrogryposis; *Cholestasis; *Renal Insufficiency
Frequency: 77
Note: A hereditary autosomal recessive disorder characterized by FAILURE TO THRIVE, arthrogryposis, MICROCEPHALY; MICROGNATHIA, cholestasis, renal insufficiency and LIVER DISEASES. Structural cardiac defects may also be present but are uncommon. Death usually occurs in infancy. Mutations in the VPS33B gene have been identified. OMIM: 208085
Date of Entry: 2010/08/25
Revision Date: 2015/09/25

Arthrogryposis renal dysfunction cholestasis syndrome MeSH Supplementary Concept Data 2024