[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: ARC SYNDROME
ARCS
ARCS1
Number of Symptoms 0
OrphanetNr:
OMIM Id: 208085
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

identical to "Arthrogryposis - renal dysfunction - cholestasis" Orphanet:2697;

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 4 male sibs from a sibship of 7 of North African descent, Nezelof et al. (1979) observed arthrogryposis multiplex congenita with jaundice and renal dysfunction. Death occurred at 2 months, 12 days, 22 days and 42 weeks ...
Molecular genetics OMIM To elucidate the molecular basis of ARCS, Gissen et al. (2004) mapped the disorder to a 7-cM interval on 15q26.1 and identified germline mutations in the gene VPS33B (see, e.g., 608552.0001-608552.0003) in 14 kindreds with ARC. VPS33B encodes ...