Hereditary sensory and autonomic neuropathy type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HSAN2 Neurogenic acroosteolysis Autosomal recessive sensory radicular neuropathy |
| Number of Symptoms | 35 |
| OrphanetNr: | 970 |
| OMIM Id: |
201300
613115 614213 |
| ICD-10: |
G60.8 |
| UMLs: |
C0270914 |
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
398148000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 35 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive hereditary sensory and autonomic neuropathy
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000224) | Decreased taste sensation | 6 / 7739 | ||||
|
|
(HPO:0001357) | Plagiocephaly | Very frequent [Orphanet] | 106 / 7739 | |||
|
|
(HPO:0002645) | Wormian bones | Very frequent [Orphanet] | 65 / 7739 | |||
|
|
(HPO:0000478) | Abnormality of the eye | 126 / 7739 | ||||
|
|
(HPO:0003448) | Decreased sensory nerve conduction velocity | 9 / 7739 | ||||
|
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(HPO:0003380) | Decreased number of peripheral myelinated nerve fibers | 30 / 7739 | ||||
|
|
(HPO:0000762) | Decreased nerve conduction velocity | 36 / 7739 | ||||
|
|
(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
|
|
(HPO:0009830) | Peripheral neuropathy | 206 / 7739 | ||||
|
|
(HPO:0001284) | Areflexia | 198 / 7739 | ||||
|
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(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
|
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(HPO:0002661) | Painless fractures due to injury | 5 / 7739 | ||||
|
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(HPO:0002797) | Osteolysis | Very frequent [Orphanet] | 68 / 7739 | |||
|
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(HPO:0001842) | Foot acroosteolysis | 4 / 7739 | ||||
|
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(HPO:0009771) | Osteolytic defects of the phalanges of the hand | 17 / 7739 | ||||
|
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(HPO:0001182) | Tapered finger | Very frequent [Orphanet] | 93 / 7739 | |||
|
|
(HPO:0001385) | Hip dysplasia | Very frequent [Orphanet] | 242 / 7739 | |||
|
|
(HPO:0002815) | Abnormality of the knee | Very frequent [Orphanet] | 19 / 7739 | |||
|
|
(HPO:0006121) | Acral ulceration leading to autoamputation of digits | 3 / 7739 | ||||
|
|
(HPO:0003307) | Hyperlordosis | Very frequent [Orphanet] | 122 / 7739 | |||
|
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(HPO:0003103) | Abnormal cortical bone morphology | Very frequent [Orphanet] | 38 / 7739 | |||
|
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(HPO:0005930) | Abnormality of epiphysis morphology | Very frequent [Orphanet] | 119 / 7739 | |||
|
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(HPO:0003028) | Abnormality of the ankles | Very frequent [Orphanet] | 14 / 7739 | |||
|
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(HPO:0002020) | Gastroesophageal reflux | 101 / 7739 | ||||
|
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
|
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(HPO:0001818) | Paronychia | 6 / 7739 | ||||
|
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(HPO:0001069) | Episodic hyperhidrosis | 4 / 7739 | ||||
|
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(HPO:0000970) | Anhidrosis | 24 / 7739 | ||||
|
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 | |||
|
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
|
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
|
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(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
|
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
|
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(HPO:0003593) | Infantile onset | 249 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|