ODCs

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1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
2 associated genes
17 signs/symptoms

Lethal acantholytic epidermolysis bullosa

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

DSP	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
JUP	(UniProt - OMIM)		KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DSP	(0.58)	KRT5

Citations in the biomedical literature:

Lethal acantholytic epidermolysis bullosa		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Synonym(s): - LAEB		Synonym(s): - Epidermolysis bullosa simplex, Koebner type - Epidermolysis bullosa simplex, KÃ¶bner type - Generalized EBS, non-Dowling-Meara type

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

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

	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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535493		External references: 1 OMIM reference - 1 MeSH reference: C535961


COMMON SIGNS	- Autosomal recessive inheritance - Enanthema / aphtosa / aphta / leukoplakia - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Lethal acantholytic epidermolysis bullosa		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Very frequent - Absent / small fingernails / anonychia of hands - Alopecia - Chronic skin infection / ulcerations / ulcers / cancrum - Early death / lethality - Premature eruption of teeth / natal teeth Occasional - Cardiomyopathy / hypertrophic / dilated - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis		Very frequent - Mucosal / cutaneous hemorrhage - Muscle weakness / flaccidity 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