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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 associated genes
4 signs/symptoms
Hypomyelination with atrophy of basal ganglia and cerebellum
Well-differentiated liposarcoma

TUBB4A CDK4
HMGA2
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB4A
(0.63)
MDM2



Citations in the biomedical literature:


Hypomyelination with atrophy of basal ganglia and cerebellum
TUBB4A
Well-differentiated liposarcoma
CDK4 HMGA2 MDM2



Hypomyelination with atrophy of basal ganglia and cerebellum
Well-differentiated liposarcoma

Synonym(s):
- H-ABC

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

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
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:
No OMIM references
No MeSH references

Well-differentiated liposarcoma

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


Hypomyelination with atrophy of basal ganglia and cerebellum

(no data available)