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Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
1 OMIM reference -
1 associated gene
16 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated dilated cardiomyopathy
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Autosomal recessive centronuclear myopathy
Epidermolysis bullosa simplex with pyloric atresia
Generalized junctional epidermolysis bullosa, non-Herlitz type
Hermansky-Pudlak syndrome without pulmonary fibrosis
Junctional epidermolysis bullosa - pyloric atresia
Localized junctional epidermolysis bullosa, non-Herlitz type
Posterior polar cataract
Total congenital cataract
Autosomal dominant spastic paraplegia type 13
Cone rod dystrophy
Fibronectin glomerulopathy
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ITGA3 P26006605025
No signs/symptoms info available.