ITGA3, integrin subunit alpha 3, 3675

N. diseases: 111; N. variants: 11
Disease: Nephrosis, congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.020 GeneticVariation disease BEFREE To date only six patients are reported: all carried homozygous ITGA3 mutations and presented a dramatically severe phenotype leading to death before age 2 years, from multi-organ failure due to interstitial lung disease and congenital nephrotic syndrome. 27717396 2016
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.020 GeneticVariation disease BEFREE Recently, mutations in the human ITGA3 were shown to cause congenital nephrotic syndrome, epidermolysis bullosa and interstitial lung disease, otherwise termed NEP syndrome (Nephrotic syndrome, Epidermolysis bullosa and Pulmonary disease). 24621570 2014