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ARC syndrome
Summary
- Synonym
-
- ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
- Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050763
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | |
| P19440 | Glutathione hydrolase 1 proenzyme |
