NEUROPATHY, HEREDITARY SENSORY, X-LINKED
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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9
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OrphanetNr:
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OMIM Id:
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310470
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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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No data available.
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Inheritance:
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X-linked inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000763)
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Sensory neuropathy |
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78 / 7739
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2
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(HPO:0003380)
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Decreased number of peripheral myelinated nerve fibers |
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30 / 7739
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3
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(OMIM)
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Foot ulceration |
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2 / 7739
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4
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(OMIM)
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Neuropathic deformities |
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1 / 7739
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5
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(HPO:0001417)
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X-linked inheritance |
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173 / 7739
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6
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(OMIM)
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Reduced or absent sural nerve sensory action potentials |
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1 / 7739
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7
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(OMIM)
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Cutaneous sensory loss only in feet |
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1 / 7739
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8
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(OMIM)
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Minimal tendon reflex impairment |
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1 / 7739
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9
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(OMIM)
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Loss of myelinated fibers on sural nerve biopsy |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |