Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa

Congenital ILNEB syndrome is an autosomal recessive disorder caused by mutations of the ITGA3 gene. It is characterized by congenital nephrotic syndrome, interstitial lung disease, and epidemiolysis bullosa.

Systematic

Nephrotic syndrome
	Congenital nephrotic syndrome type 01 (Finnish type)
	Congenital nephrotic syndrome type 02
	Congenital nephrotic syndrome type 03
	Congenital nephrotic syndrome type 04
	Congenital nephrotic syndrome type 05 (Pierson syndrome)
	Congenital nephrotic syndrome type 06
	Congenital nephrotic syndrome type 07
	Congenital nephrotic syndrome type 08
	Congenital nephrotic syndrome type 09
	Congenital nephrotic syndrome type 10
	Congenital nephrotic syndrome type 11
	Congenital nephrotic syndrome type 12
	Congenital nephrotic syndrome type 13
	Congenital nephrotic syndrome type 14
	Congenital nephrotic syndrome type 15
	Congenital nephrotic syndrome type 16
	Congenital nephrotic syndrome type 17
	Congenital nephrotic syndrome type 18
	Congenital nephrotic syndrome type 19
	Congenital nephrotic syndrome type 20
	Congenital nephrotic syndrome type 21
	Congenital nephrotic syndrome type 22
	Congenital nephrotic syndrome type 23
	Congenital nephrotic syndrome type 24
	Donnai-Barrow syndrome
	GPC5
	Glomerulotubular nephropathy
	Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
		ITGA3
	Lipoprotein glomerulopathy
	Schimke Immunoosseous dysplasia
	XPO5

References:

1.	Has C et al. (2012) Integrin α3 mutations with kidney, lung, and skin disease.

2.	Yalcin EG et al. (2015) Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.

3.	OMIM.ORG article Omim 614748

4.	Orphanet article Orphanet ID 182095