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3 associated genes
4 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Well-differentiated liposarcoma
Triose phosphate-isomerase deficiency

CDK4 TPI1
HMGA2
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MDM2
(0.63)
TPI1



Citations in the biomedical literature:


Well-differentiated liposarcoma
CDK4 HMGA2 MDM2
Triose phosphate-isomerase deficiency
TPI1



Well-differentiated liposarcoma
Triose phosphate-isomerase deficiency

Synonym(s):
- ALT
- Atypical lipoma
- Atypical lipomatous tumor
- WDLS

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic
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 -
No MeSH references

Well-differentiated liposarcoma
Triose phosphate-isomerase deficiency

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

Occasional
- Functional anomalies of the kidney and the urinary tract
- Intestinal transit disorder


Very frequent
- Autosomal recessive inheritance
- Functional anomalies of the nervous system
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy

Frequent
- Diaphragmatic hernia / defect / agenesis
- Stillbirth / neonatal death

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Nerve conduction abnormality