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Classification of hereditary sensory neuropathies type I (HSN I) |
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| Subtype |
Hallmark/additional features |
Locus |
Gene |
OMIM # |
|
|
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| HSN IA |
Predominant loss of pain and temperature sensation, sometimes initial sign with long preservation of vibration sense, burning and lancinating pain, variable distal motor involvement, which may be severe. |
9q22.1–q22.3 |
SPTLC1 |
162400 |
| HSN IB |
Predominant sensory neuropathy with cough and gastro-oesophageal reflux, rarely foot ulcerations; normal distal muscle strength. |
3p24–p22 |
unknown |
608088 |
| HSN IC (= CMT2B, HMSN IIB) |
Prominent distal motor involvement, often as initial sign of the disease, sensory loss of all qualities, acro-mutilating complications. |
3q21 |
RAB7 |
600882 |
| HSN ID |
Prominent sensory loss and mutilations in hands and feet, acropathy; variable motor involvement. |
unknown |
unknown |
- |
Auer-Grumbach Orphanet Journal of Rare Diseases 2008 3:7 doi:10.1186/1750-1172-3-7 |
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