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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Extraskeletal Ewing sarcoma
MULIBREY nanism

ERG TRIM37
EWSR1
FLI1
SMARCA5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EWSR1
(0.73)
TRIM37



Citations in the biomedical literature:


Extraskeletal Ewing sarcoma
ERG EWSR1 FLI1 SMARCA5
MULIBREY nanism
TRIM37



Extraskeletal Ewing sarcoma
MULIBREY nanism

Synonym(s):
- EOE
- Extraosseous Ewing sarcoma
- Extraosseous Ewing tumor
- Extraskeletal Ewing tumor

Synonym(s):
- MULIBREY dwarfism
- Muscle-liver-brain-eye nanism
- Perheentupa syndrome
- Pericardial constriction - growth failure

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: elderly
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C538604 / D050336

MULIBREY nanism

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Intrauterine growth retardation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Short stature / dwarfism / nanism
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy

Frequent
- Broad nasal root
- Hepatomegaly / liver enlargement (excluding storage disease)



Extraskeletal Ewing sarcoma

(no data available)