ORPHA:447757
Autosomal dominant spastic paraplegia type 9B
Synonyms: AD-SPG9B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Infancy
- Status
- active
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 9B | AD-SPG9B |
| fr | Paraplégie spastique autosomique dominante type 9B | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 9B | = en |
| es | Paraplejía espástica autosómica dominante tipo 9B | = en |
| it | Paraplegia spastica autosomica dominante tipo 9B | = en |
| nl | Autosomaal dominante spastische paraplegie type 9B | = en |
| pt | Paraplegia espástica autossómica dominante tipo 9B | = en |
| pl | Autosomalna dominująca złożona paraplegia spastyczna typu 9B | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 9B | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 9B | = en |
| zh | 常染色体显性痉挛性截瘫9B型 | = en |
| tr | Otozomal dominant spastik parapleji tip 9B | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | attributed | validated |
| MONDO | 0018644 | E | validated | |
| MONDO | 18644 | E | validated | |
| UMLS | C5568979 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:320342Pure or complex autosomal dominant spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALDH18A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9722 | ENSG00000059573 | 138250 | 10q24.1 | aldehyde dehydrogenase 18 family member A1 | 26026163[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 26026163[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26026163[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2019-02-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0007083 | Hyperactive patellar reflex | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0002505 | Loss of ambulation | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0001761 | Pes cavus | |
| HP:0002174 | Postural tremor | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0002464 | Spastic dysarthria | |
| HP:0002064 | Spastic gait | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Occasional (29-5%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0000726 | Dementia | |
| HP:0000519 | Developmental cataract | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0004373 | Focal dystonia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001252 | Hypotonia | |
| HP:0003477 | Peripheral axonal neuropathy | |
Annotation source: 26026163[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447757
- This record as JSON: /data/d/447757.json