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Extraskeletal Ewing sarcoma

4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Hyperimmunoglobulinemia D with periodic fever

1 OMIM reference -
1 associated gene
28 signs/symptoms

Extraskeletal Ewing sarcoma

Hyperimmunoglobulinemia D with periodic fever

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		Hyperimmunoglobulinemia D with periodic fever
	Synonym(s): - EOE - Extraosseous Ewing sarcoma - Extraosseous Ewing tumor - Extraskeletal Ewing tumor		Synonym(s): - HIDS - Hyper-IgD syndrome - Hyperimmunoglobinemia D with recurrent fever - Hyperimmunoglobulinemia D syndrome - Partial mevalonate kinase deficiency

	Classification (Orphanet): - Rare oncologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare immune disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown 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 - No MeSH references

Hyperimmunoglobulinemia D with periodic fever
	Very frequent - Acute abdominal pain / colic - Articular / joint pain / arthralgia - Autosomal recessive inheritance - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Fever / chilling - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hepatomegaly / liver enlargement (excluding storage disease) - Lymphadenopathy / polyadenopathies - Myalgia / muscular pain Frequent - Acute diarrhea - Arthritis / synovitis / synovial proliferation - Dermal / subcutaneous infiltration / induration - Enanthema / aphtosa / aphta / leukoplakia - Facial pain / cephalalgia / migraine - Follicular / erythematous / edematous papules / milium - Urticaria - Vascularitis / vasculitides / arteritis Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Ataxia / incoordination / trouble of the equilibrium - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Intestinal obstruction / ileus - Monoclonal immunoglobulins / gammapathy / dysglobulinemia - Peritonitis / peritoneal abscess - Purpura / petichiae - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus
Extraskeletal Ewing sarcoma
(no data available)