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Extraskeletal Ewing sarcoma
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mevalonic aciduria
1 OMIM reference -
1 associated gene
17 signs/symptoms
Extraskeletal Ewing sarcoma
Mevalonic aciduria

ERG
(UniProt - OMIM)
 MVK
(UniProt - OMIM)
EWSR1
(UniProt - OMIM)
FLI1
(UniProt - OMIM)
SMARCA5
(UniProt - OMIM)

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


Citations in the biomedical literature:


Extraskeletal Ewing sarcoma
ERG EWSR1 FLI1 SMARCA5
Mevalonic aciduria
MVK



Extraskeletal Ewing sarcoma
Mevalonic aciduria

Synonym(s):
- EOE
- Extraosseous Ewing sarcoma
- Extraosseous Ewing tumor
- Extraskeletal Ewing tumor
Synonym(s):
- Complete mevalonate kinase deficiency
- MVA
Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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:
No OMIM references
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



Extraskeletal Ewing sarcoma

(no data available)