ORPHA:100998
Autosomal dominant spastic paraplegia type 17
Synonyms: SPG17 · Silver syndrome · Spastic paraplegia-amyotrophy of hands and feet
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 17 | SPG17 · Silver syndrome · Spastic paraplegia-amyotrophy of hands and feet |
| fr | Paraplégie spastique autosomique dominante type 17 | SPG17 · Syndrome de Silver · Syndrome de paraplégie spastique-amyotrophie des pieds et des mains |
| de | Spastische Paraplegie, autosomal-dominante, Typ 17 | SPG17 · Silver-Syndrom · Spastische Paraplegie - Amyotrophie der Hände und Füße |
| es | Paraplejía espástica autosómica dominante tipo 17 | Paraplejía espástica-amiotrofia de manos y pies · SPG17 · Síndrome de Silver |
| it | Paraplegia spastica autosomica dominante tipo 17 | Neuropatia motoria distale ereditaria, tipo 5B · Paraplegia spastica - amiotrofia delle mani e dei piedi · SPG17 · Sindrome di Silver · dHMN5B |
| nl | Autosomaal dominante spastische paraplegie type 17 | SPG17 · Spastische paraplegie - amyotrofie van handen en voeten · Syndroom van Silver |
| pt | Paraplegia espástica autossómica dominante tipo 17 | SPG17 · Síndrome Silver |
| pl | Autosomalna dominująca paraplegia spastyczna typu 17 | SPG17 · Zespół Silvera · Paraplegia spastyczna-amiotrofia dłoni i stóp |
| cs | Autozomálně dominantní spastická paraplegie, typ 17 | Distální hereditární motorická neuropatie, typ 5B · SPG17 · Spastická paraplegie a amyotrofie rukou a nohou · dHMN5B · Silverův syndrom |
| uk | Аутосомно-домінантна спастична параплегія, тип 17 | Синдром Сільвера · Спастична параплегія-аміотрофія рук і ніг · SPG17 |
| zh | 常染色体显性遗传痉挛性截瘫17型 | 痉挛性截瘫-远端肌肉萎缩 |
| tr | Otozomal dominant spastik parapleji tip 17 | SPG17 · Silver sendrom · Spastik parapleji-el ve ayaklarda amyotrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270685 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0010043 | E | validated | |
| MeSH | C536644 | E | validated | |
| UMLS | C2931276 | E | validated | |
| GARD | 4219 | 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 (2):
- ORPHA:100979Autosomal dominant complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:140465Autosomal dominant distal hereditary motor neuropathy
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 |
|---|---|---|---|---|---|---|---|---|
| BSCL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15832 | ENSG00000168000 | 606158 | 11q12.3 | BSCL2 lipid droplet biogenesis associated, seipin | 14981520[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
16 annotations · validated 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001436 | Abnormality of the foot musculature | |
| HP:0003487 | Babinski sign | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0009130 | Hand muscle atrophy | |
| HP:0001347 | Hyperreflexia | |
| HP:0002064 | Spastic gait | |
| Occasional (29-5%) | ||
| HP:0040131 | Abnormal motor nerve conduction velocity | |
| HP:0031374 | Ankle weakness | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002936 | Distal sensory impairment | |
| HP:0030237 | Hand muscle weakness | |
| HP:0030838 | Hip pain | |
| HP:0030839 | Knee pain | |
| HP:0001763 | Pes planus | |
| HP:0002174 | Postural tremor | |
| HP:0001171 | Split hand | |
Annotation source: 13680364[PMID]_23553728[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100998
- This record as JSON: /data/d/100998.json