ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
6 signs/symptoms

X-linked progressive cerebellar ataxia

Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome


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

Citations in the biomedical literature:

X-linked progressive cerebellar ataxia		Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Bart-Pumphrey syndrome - Knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare neurologic 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: unknown Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: (no data available)

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

Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
	Very frequent - Abnormal nails colour / leukonychia / melanonychia - Autosomal dominant inheritance - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Sensorineural deafness / hearing loss - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Palmoplantar hyperkeratosis / keratoderma
X-linked progressive cerebellar ataxia
(no data available)