ODCs

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

PROTEIN INTERACTIONS: 1

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

Pseudohypoparathyroidism type 1B

Recurrent infections-myelofibrosis-nephromegaly syndrome

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


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

Citations in the biomedical literature:

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

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

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

	Epidemiological data: (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 - 1 MeSH reference: C548075		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.