ARC syndrome

Term ID

DOID:0050763

Synonyms

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
Arthrogryposis-renal dysfunction-cholestasis

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. (4)

References

MIM:PS208085
ORDO:2697

Ontology

Human Disease ( DOID:0050763 )

Relationships

is a type of: autosomal recessive disease syndrome

autosomal recessive disease syndrome Show first 5 Terms
has subtype: arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis, renal dysfunction, and cholestasis 2

arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis, renal dysfunction, and cholestasis 2 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models