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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
4 signs/symptoms
Epidermolysis bullosa simplex, Ogna type
Myxoid/round cell liposarcoma

PLEC DDIT3
FUS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLEC
(0.59)
FUS



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Myxoid/round cell liposarcoma
DDIT3 FUS



Epidermolysis bullosa simplex, Ogna type
Myxoid/round cell liposarcoma

Synonym(s):
- EBS-O

Synonym(s):
- MRCLS

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
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 -
1 MeSH reference: C535962
External references:
1 OMIM reference -
1 MeSH reference: D018208

Epidermolysis bullosa simplex, Ogna type
Myxoid/round cell liposarcoma

Very frequent
- Autosomal dominant inheritance
- Bruisability
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy



Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Acute abdominal pain / colic
- Intestinal transit disorder