Hereditary sensory and autonomic neuropathy type 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 16 |
| OrphanetNr: | 36386 |
| OMIM Id: |
162400
613640 613708 614116 |
| ICD-10: |
G60.8 |
| UMLs: |
C0020071 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
397734008 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant hereditary sensory and autonomic neuropathy
-Rare genetic disease -Rare neurologic disease Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement -Rare genetic disease |
Symptom Information:
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0003448) | Decreased sensory nerve conduction velocity | 9 / 7739 | ||||
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(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0007267) | Chronic axonal neuropathy | 5 / 7739 | ||||
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(HPO:0006984) | Distal sensory loss of all modalities | 5 / 7739 | ||||
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(HPO:0002936) | Distal sensory impairment | 96 / 7739 | ||||
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(HPO:0003387) | Decreased number of large peripheral myelinated nerve fibers | 11 / 7739 | ||||
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(HPO:0001886) | Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) | 5 / 7739 | ||||
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(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
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(HPO:0002754) | Osteomyelitis | 37 / 7739 | ||||
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(HPO:0001868) | Autoamputation of foot | 2 / 7739 | ||||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0000951) | Abnormality of the skin | 147 / 7739 | ||||
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(HPO:0002460) | Distal muscle weakness | 122 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 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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