Arthrogryposis renal dysfunction cholestasis syndrome

A hereditary autosomal recessive disorder characterized by FAILURE TO THRIVE, arthrogryposis, MICROCEPHALY; MICROGNATHIA, cholestasis, renal insufficiency and LIVER DISEASES. Structural cardiac defects may also be present but are uncommon. Death usually occurs in infancy. Mutations in the VPS33B gene have been identified. OMIM: 208085

Also Known As:

ARC syndrome; ARCS; ARCS1; Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis; Arthrogryposis, Renal Dysfunction, And Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 1

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Arthrogryposis: 324
    - Arthrogryposis renal dysfunction cholestasis syndrome: 1007
- Joint Diseases: 6509
  - Arthrogryposis: 324
    - Arthrogryposis renal dysfunction cholestasis syndrome: 1007
- Musculoskeletal Abnormalities: 43
  - Arthrogryposis: 324
    - Arthrogryposis renal dysfunction cholestasis syndrome: 1007
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Arthrogryposis: 324
      - Arthrogryposis renal dysfunction cholestasis syndrome: 1007
Digestive System Diseases: 1042
- Biliary Tract Diseases: 466
  - Bile Duct Diseases: 95
    - Cholestasis: 7937
      - Arthrogryposis renal dysfunction cholestasis syndrome: 1007
Urogenital Diseases: 126
- Urologic Diseases: 799
  - Kidney Diseases: 12250
    - Renal Insufficiency: 33177
      - Arthrogryposis renal dysfunction cholestasis syndrome: 1007
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 799
      - Kidney Diseases: 12250
        Renal Insufficiency: 33177
        Arthrogryposis renal dysfunction cholestasis syndrome: 1007
- Male Urogenital Diseases
  - Urologic Diseases: 799
    - Kidney Diseases: 12250
      - Renal Insufficiency: 33177
        Arthrogryposis renal dysfunction cholestasis syndrome: 1007

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Disease

Drug/Important Bio-Agent (IBA)