Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
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.

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2.

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

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3.

OMIM.ORG article

Omim 614748 [^]
4.

Orphanet article

Orphanet ID 182095 [^]
Update: April 29, 2019