Palmoplantar keratoderma-spastic paralysis syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
AXONAL NEUROPATHY WITH PALMOPLANTAR KERATODERMA CHARCOT-MARIE-TOOTH DISEASE WITH PALMOPLANTAR KERATODERMA AND NAIL DYSTROPHY Palmoplantar hyperkeratosis-spastic paralysis syndrome Powell-Venencie-Gordon syndrome |
| Number of Symptoms | 21 |
| OrphanetNr: | 2201 |
| OMIM Id: |
148360
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| ICD-10: |
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| UMLs: |
C1835671 |
| MeSH: |
C536153 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 25 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
-Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0001276) | Hypertonia | Frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0007002) | Motor axonal neuropathy | 17 / 7739 | ||||
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(HPO:0003390) | Sensory axonal neuropathy | 26 / 7739 | ||||
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(HPO:0004374) | Hemiplegia/hemiparesis | Frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0000763) | Sensory neuropathy | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0009830) | Peripheral neuropathy | Very frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0001761) | Pes cavus | Very frequent [Orphanet] | 225 / 7739 | |||
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(HPO:0000982) | Palmoplantar keratoderma | 40 / 7739 | ||||
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(HPO:0008404) | Nail dystrophy | 89 / 7739 | ||||
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(HPO:0001072) | Thickened skin | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0008388) | Abnormality of the toenails | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0002164) | Nail dysplasia | 82 / 7739 | ||||
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(HPO:0001231) | Abnormality of the fingernails | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0003457) | EMG abnormality | Very frequent [Orphanet] | 78 / 7739 | |||
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(OMIM) | Electrophysiologic evidence of axonal neuropathy | 1 / 7739 | ||||
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(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
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(OMIM) | Motor and sensory neuropathy | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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