Spastic paraplegia - precocious puberty
General Information (adopted from Orphanet):
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Synonyms, Signs:
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PRECOCIOUS PUBERTY WITH SPASTIC PARAPLEGIA
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Number of Symptoms
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13
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OrphanetNr:
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2826
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OMIM Id:
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182820
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ICD-10:
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UMLs:
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C1866850
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MeSH:
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C536874
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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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2
cases
[Orphanet]
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Inheritance:
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Autosomal dominant
[Orphanet]
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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:0001249)
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Intellectual disability |
|
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1089 / 7739
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2
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(HPO:0001260)
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Dysarthria |
|
|
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329 / 7739
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3
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(HPO:0001347)
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Hyperreflexia |
Very frequent [Orphanet]
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363 / 7739
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4
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(HPO:0001288)
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Gait disturbance |
Very frequent [Orphanet]
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318 / 7739
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5
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(HPO:0004374)
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Hemiplegia/hemiparesis |
Very frequent [Orphanet]
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|
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158 / 7739
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6
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(HPO:0001258)
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Spastic paraplegia |
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97 / 7739
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7
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(HPO:0002167)
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Neurological speech impairment |
Very frequent [Orphanet]
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308 / 7739
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8
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(HPO:0002066)
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Gait ataxia |
Very frequent [Orphanet]
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327 / 7739
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9
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(HPO:0000826)
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Precocious puberty |
Very frequent [Orphanet]
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42 / 7739
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10
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
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328 / 7739
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11
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(OMIM)
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Brisk leg reflexes |
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1 / 7739
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12
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(OMIM)
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Leydig cell hyperplasia |
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2 / 7739
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13
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |