ODCs

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Lhermitte-Duclos disease

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Epidermolysis bullosa simplex, Dowling-Meara type

1 OMIM reference -
2 associated genes
18 signs/symptoms

Lhermitte-Duclos disease

Epidermolysis bullosa simplex, Dowling-Meara type

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


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

Citations in the biomedical literature:

Lhermitte-Duclos disease		Epidermolysis bullosa simplex, Dowling-Meara type
	Synonym(s): - Dysplastic gangliocytoma of the cerebellum - LDD		Synonym(s): - Epidermolysis bullosa simplex, herpetiformis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare oncologic 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: adulthood Average age of death: - Type of inheritance: unknown		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant

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

Lhermitte-Duclos disease		Epidermolysis bullosa simplex, Dowling-Meara type
	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		Very frequent - Abnormal fingernails - Anomalies of skin, subcutaneous tissue and mucosae - Autosomal dominant inheritance - Mucosal / cutaneous hemorrhage - Nails anomalies - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Abnormal scarring / cheloids / hypertrophic scars - Constipation - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Skin hypoplasia / aplasia / atrophy - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)