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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
4 signs/symptoms
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Myxoid/round cell liposarcoma

DYNC1H1 DDIT3
FUS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DYNC1H1
(0.49)
FUS



Citations in the biomedical literature:


Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
DYNC1H1
Myxoid/round cell liposarcoma
DDIT3 FUS



Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Myxoid/round cell liposarcoma

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
- SMALED1

Synonym(s):
- MRCLS

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D018208

Myxoid/round cell liposarcoma

Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Acute abdominal pain / colic
- Intestinal transit disorder


Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

(no data available)