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Keratoderma hereditarium mutilans

1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

X-linked Charcot-Marie-Tooth disease type 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Keratoderma hereditarium mutilans

X-linked Charcot-Marie-Tooth disease type 1

GJB2

(UniProt - OMIM)

GJB1

(UniProt - OMIM)


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

Citations in the biomedical literature:

Keratoderma hereditarium mutilans		X-linked Charcot-Marie-Tooth disease type 1
	Synonym(s): - Mutilating keratoderma of Vohwinkel - Mutilating keratoderma plus deafness - PPK mutilans and deafness - Vohwinkel syndrome		Synonym(s): - CMT1X - CMTX1

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

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

	Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: childhood Average age of death: - Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535919


COMMON SIGNS	- Hearing loss / hypoacusia / deafness

Keratoderma hereditarium mutilans		X-linked Charcot-Marie-Tooth disease type 1
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Autosomal dominant inheritance - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Sensorineural deafness / hearing loss Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism Occasional - Alopecia - Anomalies of spine, vertebrae and pelvis - Auto-aggressivity / auto-mutilation - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Dysplastic / thick / grooved toenails - Follicular / erythematous / edematous papules / milium - Ichthyosis / ichthyosiform dermatitis - Nails anomalies - Osteolysis / osteoclasia / bone destruction / erosions		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 - Hemiplegia / diplegia / hemiparesia / limb palsy - Kyphosis - Scoliosis - Somnolence / hypersomnia / parasomnia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tremor