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Recurrent infections-myelofibrosis-nephromegaly syndrome
1 OMIM reference -
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
Pseudohypoparathyroidism type 1B
Estrogen resistance syndrome
Synonym(s):
- Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome
- Recurrent infections-bone marrow fibrosis-nephromegaly syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
VPS45 Q9NRW7610035
No signs/symptoms info available.