GenTIGSA Gene Database on Rare Genetic Disorders
Arthrogryposis, Renal Dysfunction, And Cholestasis 1  
Disease Aliases (15)

Arc syndrome

Arcs

Arcs1

Arthrogryposis - renal dysfunction - cholestasis

Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis

Arthrogryposis renal dysfunction cholestasis syndrome

Arthrogryposis, renal dysfunction and cholestasis (arc) syndrome

Arthrogryposis, renal dysfunction, and cholestasis 1

Arthrogryposis-renal dysfunction-cholestasis

Arthrogryposis-renal dysfunction-cholestasis syndrome

Vps33b arthrogryposis-renal dysfunction-cholestasis syndrome

Vps33b-related arthrogryposis, renal dysfunction, and cholestasis syndrome

Arthrogryposis, renal dysfunction, and cholestasis type 1

Arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in vps33b

Associated Genes (2)
 

NCBI-RefSeq:  VPS33B   (VPS33B late endosome and lysosome associated)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  VIPAS39   (VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations