Details of Disease

General Information of Disease (ID: DISSPED4)

Disease Name Nephrotic syndrome, type 8
Synonyms NPHS8; nephrotic syndrome, type 8; ARHGDIA nephrotic syndrome; nephrotic syndrome caused by mutation in ARHGDIA
Definition Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.
Disease Hierarchy
DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome
DISSPSC2: Nephrotic syndrome
DISSPED4: Nephrotic syndrome, type 8
Disease Identifiers
MONDO ID
MONDO_0014099
UMLS CUI
C3808953
OMIM ID
615244
MedGen ID
815283

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARHGDIA OTEXWJDO Strong Autosomal recessive [1]
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References

1 Progressive impairment of kidneys and reproductive organs in mice lacking Rho GDIalpha. Oncogene. 1999 Sep 23;18(39):5373-80. doi: 10.1038/sj.onc.1202921.