Disease #03722 (ILNEB (lung disease, interstitial, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB)), OMIM:614748)

Official abbreviation ILNEB
Name lung disease, interstitial, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB)
OMIM ID 614748
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene ITGA3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00057911 - - 2-generation family, 2 affecteds, unaffected heterozygous carrier parents; II-1 has affected brother carrying the same variants F no Italy white >13y - - - ILNEB Lung: interstitial lung disease, severe air trapping. Severe and recurrent respiratory infections. Skin and annexes: sparse eyelashes, absent eyebrows, dysplastic nails, atrophic and erythematous areas on the legs. Severe growth delay (<3° centile) since Birth. normal GH values. NO renal alterations ITGA3 ITGA3 2 2 Elisa Adele Colombo
00057916 - - affected sister PatII-1 M no Italy white >09y - - - ILNEB Lung: Interstitial lung disease, severe air trapping. Skin and annexes: pachyonychia at toe nails, erythemetous lesions on cheeks, chin, neck and limbs; sparse and rare eyebrown and eyelashes. Growth delay. NO renal alterations ITGA3 ITGA3 2 1 Elisa Adele Colombo
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