ODCs

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1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

3 OMIM references -
4 associated genes
25 signs/symptoms

Lethal acantholytic epidermolysis bullosa

Pachyonychia congenita


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DSP	(0.55)	KRT6A

Citations in the biomedical literature:

Lethal acantholytic epidermolysis bullosa		Pachyonychia congenita
	Synonym(s): - LAEB		Synonym(s): - PC

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535493		External references: 3 OMIM references - 1 MeSH reference: D053549


COMMON SIGNS	- Absent / small fingernails / anonychia of hands - Alopecia - Autosomal recessive inheritance - Enanthema / aphtosa / aphta / leukoplakia - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Lethal acantholytic epidermolysis bullosa		Pachyonychia congenita
	Very frequent - 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 - Abnormal nails colour / leukonychia / melanonychia - Autosomal dominant inheritance - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Hair and scalp anomalies - Hyperhidrosis / increased sweating - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma Frequent - Anomalies of teeth and dentition - Ichthyosis / ichthyosiform dermatitis - Multiple caries - Skin tumors / lumps / epidermal cysts Occasional - Abnormal fingernails - Cataract / lens opacification - Corneal dystrophy - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction