Nephrotic Syndrome - SCARB2 Associated

MedGen UID:: 888614
•Concept ID:: C4054367
•: Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the SCARB2 gene. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNephrotic Syndrome - SCARB2 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 - SCARB2 Associated

Recent clinical studies

Diagnosis

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.

Balreira A, Gaspar P, Caiola D, Chaves J, Beirão I, Lima JL, Azevedo JE, Miranda MC
Hum Mol Genet 2008 Jul 15;17(14):2238-43. Epub 2008 Apr 17 doi: 10.1093/hmg/ddn124. PMID: 18424452

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Nephrotic Syndrome - SCARB2 Associated

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

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