ODCs

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1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
4 signs/symptoms

X-linked Charcot-Marie-Tooth disease type 1

Palmoplantar keratoderma-deafness syndrome

GJB1	(UniProt - OMIM)		GJB2	(UniProt - OMIM)
			MT-TS1	(OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJB1	(0.62)	GJB2

Citations in the biomedical literature:

X-linked Charcot-Marie-Tooth disease type 1		Palmoplantar keratoderma-deafness syndrome
	Synonym(s): - CMT1X - CMTX1		Synonym(s): - PPK-deafness syndrome - Palmoplantar hyperkeratosis-deafness syndrome - Palmoplantar hyperkeratosis-hearing loss syndrome - Palmoplantar keratoderma-hearing loss syndrome

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 1 OMIM reference - 1 MeSH reference: C535919		External references: 1 OMIM reference - 1 MeSH reference: C536152

X-linked Charcot-Marie-Tooth disease type 1		Palmoplantar keratoderma-deafness syndrome
	Very frequent - Areflexia / hyporeflexia - Flat palm - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Nerve conduction abnormality - Peripheral neuropathy - Pes cavus - Sensitive trouble / deficit - X-linked dominant inheritance Frequent - Insensitivity to pain - Motor deficit / trouble Occasional - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Elocution disorders / dysarthria / dysphonia - Hearing loss / hypoacusia / deafness - Hemiplegia / diplegia / hemiparesia / limb palsy - Kyphosis - Scoliosis - Somnolence / hypersomnia / parasomnia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tremor		Very frequent - Autosomal dominant inheritance - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Sensorineural deafness / hearing loss