ODCs

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1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Keratoderma hereditarium mutilans

X-linked progressive cerebellar ataxia


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 progressive cerebellar ataxia
	Synonym(s): - Mutilating keratoderma of Vohwinkel - Mutilating keratoderma plus deafness - PPK mutilans and deafness - Vohwinkel syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare neurologic 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: unknown Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

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

Keratoderma hereditarium mutilans
	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 - Hearing loss / hypoacusia / deafness - Ichthyosis / ichthyosiform dermatitis - Nails anomalies - Osteolysis / osteoclasia / bone destruction / erosions
X-linked progressive cerebellar ataxia
(no data available)