ORPHA:447753
Autosomal dominant spastic paraplegia type 9A
Synonyms: AD-SPG9A · Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome · Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Infancy
- Status
- active
A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 9A | AD-SPG9A · Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome · Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome |
| fr | Paraplégie spastique autosomique dominante type 9A | AD-SPG9A · Syndrome de cataracte-neuropathie motrice-petite taille-anomalies squelettiques · Syndrome de paraparésie spastique-amyopathie-cataracte-reflux gastro-oesophagien |
| de | Spastische Paraplegie, autosomal-dominante, Typ 9A | AD-SPG9A · Katarakte-motorische Neuropathie-Kleinwuchs-Skelettanomalien-Syndrom · Spastische Paraparese-Amyopathie-Katarakte-gastroösophagealer Reflux-Syndrom |
| es | Paraplejía espástica autosómica dominante tipo 9A | AD-SPG9A · Síndrome de cataratas-neuropatía motora-talla baja-anomalías esqueléticas · Síndrome de paraplejía espástica-amiopatía-cataratas-reflujo gastroesofágico |
| it | Paraplegia spastica autosomica dominante tipo 9A | AD-SPG9A |
| nl | Autosomaal dominante spastische paraplegie type 9A | Cataracten - motorische neuropathie - kleine gestalte - skeletanomalieën-syndroom · Spastische paraparese - amyopathie - cataracten - gastro-oesofageale reflux-syndroom · AD-SPG9A |
| pt | Paraplegia espástica autossómica dominante tipo 9A | AD-SPG9A |
| pl | Autosomalna dominująca złożona paraplegia spastyczna typu 9A | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 9A | AD-SPG9A |
| uk | Аутосомно-домінантна спастична параплегія, тип 9А | AD-SPG9A · Синдром катаракти - моторної нейропатії - низькорослості - скелетних аномалій · Спастичний парапарез - аміопатія - катаракта - гастроезофагеальний рефлюксний синдром |
| zh | 常染色体显性痉挛性截瘫9A型 | 痉挛性轻瘫-肌病-白内障-胃食管反流综合征 |
| tr | Otozomal dominant spastik parapleji tip 9A | AD-SPG9A · Katarakt-motor nöropati-kısa boy-iskelet anomalileri sendromu · Spastik paraparezi-amyopati-katarakt-gastroözofageal reflü sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601162 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | attributed | validated |
| MONDO | 0011006 | E | validated | |
| UMLS | C5568978 | E | validated | |
| GARD | 9583 | 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 (3):
- ORPHA:100979Autosomal dominant complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic 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]_26297558[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 8779323[PMID]_9973297[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8779323[PMID]_9973297[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
34 annotations · validated 2018-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002064 | Spastic gait | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0010832 | Abnormality of pain sensation | |
| HP:0003487 | Babinski sign | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0001761 | Pes cavus | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0011397 | Abnormality of the dorsal column of the spinal cord | |
| HP:0002425 | Anarthria | |
| HP:0007371 | Corpus callosum atrophy | |
| HP:0000726 | Dementia | |
| HP:0000519 | Developmental cataract | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0002527 | Falls | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0003419 | Low back pain | |
| HP:0012514 | Lower limb pain | |
| HP:0002354 | Memory impairment | |
| HP:0001653 | Mitral regurgitation | |
| HP:0003394 | Muscle spasm | |
| HP:0001324 | Muscle weakness | |
| HP:0100515 | Pollakisuria | |
| HP:0002172 | Postural instability | |
| HP:0000709 | Psychosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002464 | Spastic dysarthria | |
| HP:0001337 | Tremor | |
| HP:0000020 | Urinary incontinence | |
| HP:0000012 | Urinary urgency | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26026163[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447753
- This record as JSON: /data/d/447753.json