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DOID:0050763 - ARC syndrome
Disease Ontology Definition:A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.
Synonyms: Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS, Arthrogryposis-renal dysfunction-cholestasis
Echinobase Genes
:
vipas39,
vps33b
| MIM:208085 - arthrogryposis, renal dysfunction, and cholestasis 1; arcs1 |
| MIM:613404 - arthrogryposis, renal dysfunction, and cholestasis 2; arcs2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)