Nephrotic Syndrome - ARHGDIA Associated

MedGen UID:: 882557
•Concept ID:: C4054397
•: Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the ARHGDIA gene. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNephrotic Syndrome - ARHGDIA Associated

Congenital Systemic Disorder
- Abnormality of the genitourinary system
  - Abnormality of the urinary system
    - Abnormality of the urinary system physiology
      - Abnormal renal physiology
        Nephrotic syndrome
        Nephrotic Syndrome - ARHGDIA Associated

Recent clinical studies

Diagnosis

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F
J Clin Invest 2013 Aug;123(8):3243-53. Epub 2013 Jul 8 doi: 10.1172/JCI69134. PMID: 23867502 Free PMC Article

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Nephrotic Syndrome - ARHGDIA Associated

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Supplemental Content

Table of contents

Recent activity