ORPHA:100994
Autosomal dominant spastic paraplegia type 13
Synonyms: SPG13
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 13 | SPG13 |
| fr | Paraplégie spastique autosomique dominante type 13 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 13 | = en |
| es | Paraplejía espástica autosómica dominante tipo 13 | = en |
| it | Paraplegia spastica autosomica dominante tipo 13 | = en |
| nl | Autosomaal dominante spastische paraplegie type 13 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 13 | = en |
| pl | Autosomalna dominująca paraplegia spastyczna typu 13 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 13 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 13 | = en |
| zh | 常染色体显性遗传痉挛性截瘫13型 | = en |
| tr | Otozomal dominant spastik parapleji tip 13 | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605280 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0011532 | E | validated | |
| MeSH | C537485 | E | validated | |
| UMLS | C1854467 | E | validated | |
| GARD | 9616 | 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 |
|---|---|---|---|---|---|---|---|---|
| HSPD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5261 | ENSG00000144381 | 118190 | 2q33.1 | heat shock protein family D (Hsp60) member 1 | 1189812[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 10677329[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10677329[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
16 annotations · validated 2018-02-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001258 | Spastic paraplegia | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003487 | Babinski sign | |
| HP:0001347 | Hyperreflexia | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002061 | Lower limb spasticity | |
| HP:0002064 | Spastic gait | |
| HP:0000020 | Urinary incontinence | |
| Occasional (29-5%) | ||
| HP:0001761 | Pes cavus | |
| HP:0002650 | Scoliosis | |
| HP:0000012 | Urinary urgency | |
| Very rare (<4-1%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0000510 | Rod-cone dystrophy | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 10677329[PMID]_11898127[PMID]_18853458[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100994
- This record as JSON: /data/d/100994.json