Nephrotic Syndrome - ITGA3 Associated

MedGen UID:: 886072
•Concept ID:: C4054382
•: Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the ITGA3 gene. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNephrotic Syndrome - ITGA3 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 - ITGA3 Associated

Recent clinical studies

Etiology

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.

Kari JA, Montini G, Bockenhauer D, Brennan E, Rees L, Trompeter RS, Tullus K, Van't Hoff W, Waters A, Ashton E, Lench N, Sebire NJ, Marks SD
Pediatr Nephrol 2014 Nov;29(11):2173-80. Epub 2014 Jun 6 doi: 10.1007/s00467-014-2856-x. PMID: 24902943 Free PMC Article

See all (1)

Diagnosis

Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous a3 Integrin Deficiency.

Tarur SU, Srinivasan S, Seeralar A
Indian Pediatr 2020 Mar 15;57(3):268-269. PMID: 32198874

Prediction of Molecular Signature, Potential Biomarkers, and Molecular Pathways Associated with Membranous Nephropathy Based on Protein Protein Interactions.

Taherkhani A, Kalantari S, Nafar M
Rev Invest Clin 2018;70(4):184-191. doi: 10.24875/RIC.18002551. PMID: 30067725

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.

Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.

Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, Kreft M, van Eerde AM, Pfundt R, Terhal PA, van der Zwaag B, Nikkels PG, Sachs N, Goldschmeding R, Knoers NV, Renkema KY, Sonnenberg A
J Clin Invest 2012 Dec;122(12):4375-87. Epub 2012 Nov 1 doi: 10.1172/JCI64100. PMID: 23114595 Free PMC Article

See all (4)