Autosomal dominant spastic paraplegia type 29
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPG29 |
| Number of Symptoms | 25 |
| OrphanetNr: | 101009 |
| OMIM Id: |
609727
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| ICD-10: |
G11.4 |
| UMLs: |
C1857855 |
| MeSH: |
C536863 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 1 family [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant complex spastic paraplegia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
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(HPO:0000020) | Urinary incontinence | 75 / 7739 | ||||
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(HPO:0000019) | Urinary hesitancy | 3 / 7739 | ||||
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(HPO:0000017) | Nocturia | 5 / 7739 | ||||
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(HPO:0000012) | Urinary urgency | 35 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0002061) | Lower limb spasticity | 56 / 7739 | ||||
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(HPO:0002169) | Clonus | 37 / 7739 | ||||
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(HPO:0000752) | Hyperactivity | 140 / 7739 | ||||
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(HPO:0002495) | Impaired vibratory sensation | 26 / 7739 | ||||
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(HPO:0006986) | Upper limb spasticity | 15 / 7739 | ||||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0002036) | Hiatus hernia | 24 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0003265) | Neonatal hyperbilirubinemia | 6 / 7739 | ||||
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(HPO:0003743) | Genetic anticipation | 9 / 7739 | ||||
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(OMIM) | Decreased joint position sense (less common) | 1 / 7739 | ||||
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(OMIM) | Sliding hernia | 2 / 7739 | ||||
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(OMIM) | Detrusor muscle hyperactivity | 1 / 7739 | ||||
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(OMIM) | Paraesophageal hernia | 1 / 7739 | ||||
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(OMIM) | Diminished force of urine stream | 1 / 7739 | ||||
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(MedDRA:10046494) | Urge incontinence | 2 / 7739 | ||||
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(OMIM) | Hearing loss, sensorineural, due to auditory neuropathy | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Orlacchio et al. (2005) reported a large family of Scottish descent in which 19 members were affected with spastic paraplegia inherited in an autosomal dominant pattern. The mean age at onset was 15.2 years, and most patients had ... |