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3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
14 signs/symptoms
Dedifferentiated liposarcoma
Epidermolysis bullosa simplex with pyloric atresia

CDK4 ITGB4
HMGA2 PLEC
MDM2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Dedifferentiated liposarcoma
CDK4 HMGA2 MDM2
Epidermolysis bullosa simplex with pyloric atresia
ITGB4 PLEC



Dedifferentiated liposarcoma
Epidermolysis bullosa simplex with pyloric atresia

Synonym(s):
- DDLS

Synonym(s):
- EBS-PA

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: before age 5
Type of inheritance: autosomal recessive

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

Epidermolysis bullosa simplex with pyloric atresia

Very frequent
- Autosomal recessive inheritance
- Polyhydramnios
- Prematurity
- Stomach / gastric anomaly
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Anaemia
- Anomalies of nose and olfaction
- Dehydration / hydroelectrolytic loss
- Enanthema / aphtosa / aphta / leukoplakia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Restricted joint mobility / joint stiffness / ankylosis
- Sepsis severe / septicemia

Occasional
- Early death / lethality


Dedifferentiated liposarcoma

(no data available)