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3 associated genes
4 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
28 signs/symptoms
Well-differentiated liposarcoma
Maffucci syndrome

CDK4 IDH1
HMGA2 IDH2
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MDM2
(0.63)
IDH2



Citations in the biomedical literature:


Well-differentiated liposarcoma
CDK4 HMGA2 MDM2
Maffucci syndrome
IDH1 IDH2



Well-differentiated liposarcoma
Maffucci syndrome

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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


COMMON
SIGNS
- Subcutaneous nodules / lipomas / tumefaction / swelling


Well-differentiated liposarcoma
Maffucci syndrome

Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

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


Very frequent
- Bone tumefaction / swelling
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Enchondroses
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Mutiple fractures / bone fragility
- Osteolysis / osteoclasia / bone destruction / erosions
- Vascular anomalies of skin / mucosae
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Bone pain
- Exostoses
- Joint / articular deformation
- Scoliosis
- Short stature / dwarfism / nanism

Occasional
- Acute palsy
- Adrenal neoplasm / tumor / carcinoma / cancer
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cranial nerves palsy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Goiter
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Parathyroid neoplasm / tumor / carcinoma / cancer
- Pituitary / hypophyseal neoplasm / tumor / carcinoma / cancer
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sarcoma