Cytoscape Web
Click node...

Hermansky-Pudlak syndrome without pulmonary fibrosis
3 OMIM references -
3 associated genes
4 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Isolated CoQ-cytochrome C reductase deficiency
Melanoma of soft part
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Synonym(s):
- HPS without pulmonary fibrosis
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
HPS3 Q969F9606118
HPS5 Q9UPZ3607521
HPS6 Q86YV9607522
No signs/symptoms info available.