Arthrogryposis, Renal Dysfunction, and Cholestasis 2 (ARCS2)

Alias:
Arcs2
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 2
Arthrogryposis Renal Dysfunction and Cholestasis 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Arthrogryposis, Renal Dysfunction, and Cholestasis 2, also known as arcs2, is related to arthrogryposis, renal dysfunction, and cholestasis 1 and cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, and has symptoms including icterus An important gene associated with Arthrogryposis, Renal Dysfunction, and Cholestasis 2 is VIPAS39 (VPS33B Interacting Protein, Apical-Basolateral Polarity Regulator, Spe-39 Homolog), and among its related pathways/superpathways are Deubiquitination and NAD metabolism. Affiliated tissues include liver and kidney, and related phenotypes are nephrogenic diabetes insipidus and lissencephaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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6
33
2

Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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