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Pelizaeus-Merzbacher-like due to HSPD1 mutation

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

PROTEIN INTERACTIONS: 1

6 OMIM references -
6 associated genes
3 signs/symptoms

Pelizaeus-Merzbacher-like due to HSPD1 mutation

Neuroblastoma

HSPD1	(UniProt - OMIM)		ALK	(UniProt - OMIM)
			HACE1	(UniProt - OMIM)
			LIN28B	(UniProt - OMIM)
			MYCN	(UniProt - OMIM)
			PHOX2B	(UniProt - OMIM)
			TOP2A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPD1	(0.63)	ALK

Citations in the biomedical literature:

Pelizaeus-Merzbacher-like due to HSPD1 mutation		Neuroblastoma
	Synonym(s): - Mitochondrial HSP60 chaperonopathy		Synonym(s): - Neural crest tumor - Sympathoblastoma

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: child / adolescent Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 6 OMIM references - 2 MeSH references: C536408 / D009447

Neuroblastoma
	Very frequent - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Organic acid metabolism anomalies Frequent - Autosomal dominant inheritance
Pelizaeus-Merzbacher-like due to HSPD1 mutation
(no data available)