Spastic paraplegia - neuropathy - poikiloderma
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Antinolo-Nieto-Borrego syndrome
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Number of Symptoms
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22
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OrphanetNr:
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2821
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OMIM Id:
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182815
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ICD-10:
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UMLs:
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C1866851
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MeSH:
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C536870
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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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Autosomal dominant
[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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Autosomal dominant complex spastic paraplegia
-Rare genetic disease
-Rare neurologic disease
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1
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(HPO:0002223)
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Absent eyebrow |
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21 / 7739
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2
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(HPO:0000561)
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Absent eyelashes |
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18 / 7739
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3
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(HPO:0100840)
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Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
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117 / 7739
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4
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(HPO:0200102)
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Sparse or absent eyelashes |
Very frequent [Orphanet]
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64 / 7739
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5
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(HPO:0001347)
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Hyperreflexia |
Very frequent [Orphanet]
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363 / 7739
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6
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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7
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(HPO:0003134)
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Abnormality of peripheral nerve conduction |
Very frequent [Orphanet]
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38 / 7739
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8
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(HPO:0007108)
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Demyelinating peripheral neuropathy |
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8 / 7739
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9
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(HPO:0011402)
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Demyelinating sensory neuropathy |
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2 / 7739
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10
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(HPO:0004374)
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Hemiplegia/hemiparesis |
Very frequent [Orphanet]
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158 / 7739
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11
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(HPO:0007220)
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Demyelinating motor neuropathy |
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3 / 7739
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12
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(HPO:0001258)
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Spastic paraplegia |
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97 / 7739
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13
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(HPO:0003383)
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Onion bulb formation |
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30 / 7739
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14
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(HPO:0008065)
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Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
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81 / 7739
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15
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(HPO:0007400)
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Irregular hyperpigmentation |
Very frequent [Orphanet]
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72 / 7739
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16
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(HPO:0001029)
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Poikiloderma |
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23 / 7739
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17
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(HPO:0003202)
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Skeletal muscle atrophy |
Very frequent [Orphanet]
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281 / 7739
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18
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(HPO:0003693)
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Distal amyotrophy |
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118 / 7739
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19
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(OMIM)
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Motor and sensory neuropathy on electroneurophysiologic studies |
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1 / 7739
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20
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(OMIM)
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Onion bulb formations on sural nerve biopsy |
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1 / 7739
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21
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(OMIM)
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Loss of eyebrows and eyelashes by age 3 years |
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1 / 7739
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22
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(OMIM)
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Delicate, smooth, wasted skin |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |