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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Lethal acantholytic epidermolysis bullosa
Burkitt lymphoma

DSP MYC
JUP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DSP
(0.63)
MYC



Citations in the biomedical literature:


Lethal acantholytic epidermolysis bullosa
DSP JUP
Burkitt lymphoma
MYC



Lethal acantholytic epidermolysis bullosa
Burkitt lymphoma

Synonym(s):
- LAEB

Synonym(s):
- Small non-cleaved cell lymphoma

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: C535493
External references:
1 OMIM reference -
2 MeSH references: D002051 / D008228

Lethal acantholytic epidermolysis bullosa

Very frequent
- Absent / small fingernails / anonychia of hands
- Alopecia
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Premature eruption of teeth / natal teeth
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis


Burkitt lymphoma

(no data available)