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Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Atypical hemolytic uremic syndrome with MCP / CD46 anomaly
Junctional epidermolysis bullosa - pyloric atresia
Synonym(s):
- Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare renal disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CD151 P48509602243
No signs/symptoms info available.