ODCs

Cytoscape Web

Click node...

Potocki-Shaffer syndrome

1 OMIM reference -
3 associated genes
3 signs/symptoms

PROTEIN INTERACTIONS: 1

Hyperinsulinism due to HNF4A deficiency

1 associated gene
No signs/symptoms info

Potocki-Shaffer syndrome

Hyperinsulinism due to HNF4A deficiency

ALX4	(UniProt - OMIM)		HNF4A	(UniProt - OMIM)
EXT2	(UniProt - OMIM)
PHF21A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EXT2	(0.76)	HNF4A

Citations in the biomedical literature:

Potocki-Shaffer syndrome		Hyperinsulinism due to HNF4A deficiency
	Synonym(s): - 11p11.2 deletion - Proximal 11p deletion syndrome		Synonym(s): - Hyperinsulinemic hypoglycemia due to HNF4A deficiency

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: no data available Type of inheritance: unknown		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538356		External references: No OMIM references No MeSH references

Potocki-Shaffer syndrome
	Very frequent - Exostoses - Intellectual deficit / mental / psychomotor retardation / learning disability - Poorly ossified skull / calvarium
Hyperinsulinism due to HNF4A deficiency
(no data available)