NEUROPATHY, HEREDITARY SENSORY, TYPE IF
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 7 |
OrphanetNr: | |
OMIM Id: |
615632
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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:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0002600) | Hyporeflexia of lower limbs | 13 / 7739 | ||||
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(HPO:0003390) | Sensory axonal neuropathy | 26 / 7739 | ||||
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(HPO:0001822) | Hallux valgus | 70 / 7739 | ||||
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(HPO:0002754) | Osteomyelitis | 37 / 7739 | ||||
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(HPO:0009771) | Osteolytic defects of the phalanges of the hand | 17 / 7739 | ||||
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(HPO:0000962) | Hyperkeratosis | 216 / 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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