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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
2 associated genes
19 signs/symptoms
Epidermolysis bullosa simplex, Ogna type
Desmoplastic small round cell tumor

PLEC EWSR1
WT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLEC
(0.56)
EWSR1



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Desmoplastic small round cell tumor
EWSR1 WT1



Epidermolysis bullosa simplex, Ogna type
Desmoplastic small round cell tumor

Synonym(s):
- EBS-O

Synonym(s):
- DSRCT

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare abdominal surgical disease
- 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: adolescence / young
Average age of death: -
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: C535962
External references:
No OMIM references
1 MeSH reference: D058405

Epidermolysis bullosa simplex, Ogna type
Desmoplastic small round cell tumor

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
- Acute abdominal pain / colic
- Digestive neoplasm / tumor / carcinoma / cancer
- Lymphadenopathy / polyadenopathies
- Peritoneal diseases
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Frequent
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intestinal obstruction / ileus
- Mediastinal / hilar adenopathies
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Anaemia
- Ascitis
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Nose / nasal sinus neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Testis anomalies
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy