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

PROTEIN INTERACTIONS: 1

Mevalonic aciduria

1 OMIM reference -
1 associated gene
17 signs/symptoms

Ewing sarcoma

Mevalonic aciduria

ERG	(UniProt - OMIM)		MVK	(UniProt - OMIM)
ETV1	(UniProt - OMIM)
ETV4	(UniProt - OMIM)
EWSR1	(UniProt - OMIM)
FLI1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EWSR1	(0.73)	MVK

Citations in the biomedical literature:

Ewing sarcoma		Mevalonic aciduria
	Synonym(s): (no synonyms)		Synonym(s): - Complete mevalonate kinase deficiency - MVA

	Classification (Orphanet): - Rare bone disease - Rare oncologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: sporadic		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D054078

Mevalonic aciduria
	Very frequent - Autosomal recessive inheritance - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Delayed bone age - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Splenomegaly - Triangular face Frequent - Ataxia / incoordination / trouble of the equilibrium - Blue sclerae - Cataract / lens opacification - Low set ears / posteriorly rotated ears
Ewing sarcoma
(no data available)