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3 associated genes
4 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
17 signs/symptoms
Well-differentiated liposarcoma
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

CDK4 KRT14
HMGA2 KRT5
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MDM2
MDM2
(0.72)
(0.63)
KRT14
KRT5



Citations in the biomedical literature:


Well-differentiated liposarcoma
CDK4 HMGA2 MDM2
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
KRT14 KRT5



Well-differentiated liposarcoma
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

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

Synonym(s):
- Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex, Köbner type
- Generalized EBS, non-Dowling-Meara type

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic 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: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535961

Well-differentiated liposarcoma
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

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
- Enanthema / aphtosa / aphta / leukoplakia
- Mucosal / cutaneous hemorrhage
- Muscle weakness / flaccidity
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Enamel anomaly
- Follicular / erythematous / edematous papules / milium
- Hyperhidrosis / increased sweating
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Palmoplantar hyperkeratosis / keratoderma
- Ptosis
- Respiratory rhythm disorder

Occasional
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Myasthenia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction