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Proximal spinal muscular atrophy type 3

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

PROTEIN INTERACTIONS: 2

Desmoplastic small round cell tumor

2 associated genes
19 signs/symptoms

Proximal spinal muscular atrophy type 3

Desmoplastic small round cell tumor

NAIP	(UniProt - OMIM)		EWSR1	(UniProt - OMIM)
SMN1	(UniProt - OMIM)		WT1	(UniProt - OMIM)
SMN2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMN1 SMN2	(0.63) (0.63)	EWSR1 EWSR1

Citations in the biomedical literature:

Proximal spinal muscular atrophy type 3		Desmoplastic small round cell tumor
	Synonym(s): - Juvenile spinal muscular atrophy - Kugelberg-Welander disease - SMA type 3 - SMA-III - SMA3		Synonym(s): - DSRCT

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references 1 MeSH reference: D058405

Desmoplastic small round cell tumor
	Very frequent - Acute abdominal pain / colic - Digestive neoplasm / tumor / carcinoma / cancer - Lymphadenopathy / polyadenopathies - Peritoneal diseases - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma Frequent - Hepatomegaly / liver enlargement (excluding storage disease) - Intestinal obstruction / ileus - Mediastinal / hilar adenopathies - Nausea / vomiting / regurgitation / merycism / hyperemesis - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Anaemia - Ascitis - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Nose / nasal sinus neoplasm / tumor / carcinoma / cancer - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Testis anomalies - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
Proximal spinal muscular atrophy type 3
(no data available)