Leukoencephalopathy-palmoplantar keratoderma syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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5
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OrphanetNr:
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2386
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OMIM Id:
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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4
cases
[Orphanet]
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Inheritance:
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Autosomal recessive
[Orphanet]
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Age of onset:
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Childhood
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
-Rare genetic disease
-Rare skin disease
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1
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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2
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(HPO:0007256)
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Abnormal pyramidal signs |
Very frequent [Orphanet]
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116 / 7739
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3
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(HPO:0100543)
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Cognitive impairment |
Frequent [Orphanet]
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230 / 7739
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4
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(HPO:0000962)
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Hyperkeratosis |
Very frequent [Orphanet]
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216 / 7739
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5
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(HPO:0002120)
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Cerebral cortical atrophy |
Frequent [Orphanet]
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187 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |