Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa (ILNEB) is a multiorgan disorder caused by mutations in ITGA3. ITGA3 encodes a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. Mutations in ITGA3 are associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02500 Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H02500 Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Has C, Sparta G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, Waters A, He Y, Anikster Y, Esser P, Straub BK, Hausser I, Bockenhauer D, Dekel B, Hildebrandt F, Bruckner-Tuderman L, Laube GF
Title
Integrin alpha3 mutations with kidney, lung, and skin disease.
