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3 associated genes
4 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
26 signs/symptoms
Well-differentiated liposarcoma
Geroderma osteodysplastica

CDK4 GORAB
HMGA2 PYCR1
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MDM2
MDM2
(0.77)
(0.63)
GORAB
PYCR1



Citations in the biomedical literature:


Well-differentiated liposarcoma
CDK4 HMGA2 MDM2
Geroderma osteodysplastica
GORAB PYCR1



Well-differentiated liposarcoma
Geroderma osteodysplastica

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

Synonym(s):
- Walt Disney dwarfism

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537799

Well-differentiated liposarcoma
Geroderma osteodysplastica

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
- Abnormal vertebral size / shape
- Abnormal / absent ossification
- Autosomal recessive inheritance
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Loose skin / skin relaxation / excess skin / creases
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Short stature / dwarfism / nanism
- Thin skin

Frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypotonia
- Scoliosis

Occasional
- Anomalies of eyes and vision
- Epiphyseal anomaly
- Flat cheek bones / malar hypoplasia
- Flat foot
- Herniae
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcornea
- Pectus carinatum
- Platyspondyly
- Premature ageing
- Prognathism / prognathia
- Talipes-varus / metatarsal varus