ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Recurrent infections-myelofibrosis-nephromegaly syndrome

Pseudohypoparathyroidism type 1B

VPS45	(UniProt - OMIM)		GNAS	(UniProt - OMIM)
			STX16	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VPS45	(0.75)	STX16

Citations in the biomedical literature:

Recurrent infections-myelofibrosis-nephromegaly syndrome		Pseudohypoparathyroidism type 1B
	Synonym(s): - Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome - Congenital neutropenia-myelofibrosis-nephromegaly syndrome - Recurrent infections-bone marrow fibrosis-nephromegaly syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare renal disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C548075

No signs/symptoms info available.