ARCS2
MCID: ART063
MIFTS: 37
|
Arthrogryposis, Renal Dysfunction, and Cholestasis 2 (ARCS2)
Categories:
Blood diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
|
|
|
MalaCards integrated aliases for Arthrogryposis, Renal Dysfunction, and Cholestasis 2:
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
death in infancy, usually from sepsis, dehydration, or acidosis Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Nephrological diseases Liver diseases Skin diseases Neuronal diseases Blood diseases |
OMIM®: 57 Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085). (613404) (Updated 08-Dec-2022) MalaCards based summary: 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 UniProtKB/Swiss-Prot: 73 A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common. Disease Ontology: 11 An arthrogryposis, renal dysfunction, and cholestasis that has material basis in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. |
Diseases in the Arthrogryposis, Renal Dysfunction, and Cholestasis 1 family:
Diseases related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2:![]() |
Human phenotypes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2:30 (show all 28)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:613404 (Updated 08-Dec-2022)UMLS symptoms related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2:icterus |
|
Organs/tissues related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2:
MalaCards :
Liver,
Kidney
|
Articles related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2:
|
ClinVar genetic disease variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 2:5 (show all 15)
|
Search
GEO
for disease gene expression data for Arthrogryposis, Renal Dysfunction, and Cholestasis 2.
|
Cellular components related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 according to GeneCards Suite gene sharing:
Biological processes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 according to GeneCards Suite gene sharing:(show all 15)
Molecular functions related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 according to GeneCards Suite gene sharing:
|
|