ODCs

Click node...

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Adult-onset distal myopathy due to VCP mutation

Neonatal severe primary hyperparathyroidism


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VCP	(0.63)	CASR

Citations in the biomedical literature:

Adult-onset distal myopathy due to VCP mutation		Neonatal severe primary hyperparathyroidism
	Synonym(s): (no synonyms)		Synonym(s): - NSHPT

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

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

Neonatal severe primary hyperparathyroidism
	Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperparathyroidy - Hypotonia - Metaphyseal anomaly - Mutiple fractures / bone fragility - Narrow rib cage / thorax - Phosphocalcic metabolism anomalies - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Short stature / dwarfism / nanism - Splenomegaly
Adult-onset distal myopathy due to VCP mutation
(no data available)