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Localized epidermolysis bullosa simplex

1 OMIM reference -
2 associated genes
4 signs/symptoms

PROTEIN INTERACTIONS: 1

Lhermitte-Duclos disease

1 OMIM reference -
1 associated gene
12 signs/symptoms

Localized epidermolysis bullosa simplex

Lhermitte-Duclos disease

KRT14	(UniProt - OMIM)		PTEN	(UniProt - OMIM)
KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT14	(0.63)	PTEN

Citations in the biomedical literature:

Localized epidermolysis bullosa simplex		Lhermitte-Duclos disease
	Synonym(s): - EBS-loc - Epidermolysis bullosa simplex of palms and soles - Epidermolysis bullosa simplex, Weber-Cockayne type		Synonym(s): - Dysplastic gangliocytoma of the cerebellum - LDD

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare oncologic disease

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

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: unknown

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

Localized epidermolysis bullosa simplex		Lhermitte-Duclos disease
	Very frequent - Autosomal dominant inheritance - Ecchymoses - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Hyperhidrosis / increased sweating		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cranial nerves palsy - Facial pain / cephalalgia / migraine - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly - Macroglossia / tongue protrusion / proeminent / hypertrophic - Nausea / vomiting / regurgitation / merycism / hyperemesis - Seizures / epilepsy / absences / spasms / status epilepticus - Upper limb polydactyly / hexadactyly Occasional - Tall stature / gigantism / growth acceleration