Autosomal dominant spastic paraplegia type 12
Synonyms: SPG12
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 12 | SPG12 |
| fr | Paraplégie spastique autosomique dominante type 12 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 12 | = en |
| es | Paraplejía espástica autosómica dominante tipo 12 | = en |
| it | Paraplegia spastica autosomica dominante, tipo 12 | = en |
| nl | Autosomaal dominante spastische paraplegie type 12 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 12 | = en |
| pl | Autosomalna dominująca paraplegia spastyczna typu 12 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 12 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 12 | = en |
| zh | 常染色体显性遗传痉挛性截瘫12型 | = en |
| tr | Otozomal dominant spastik parapleji tip 12 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604805 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0011489 | E | validated | |
| MeSH | C537484 | E | validated | |
| UMLS | C1858106 | E | validated | |
| GARD | 9586 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:100980Autosomal dominant pure spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RTN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10468 | ENSG00000125744 | 603183 | 19q13.32 | reticulon 2 | 22232211[PMID] |
| UBAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12461 | ENSG00000165006 | 609787 | 9p13.3 | ubiquitin associated protein 1 | 32934340[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | 22232211[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22232211[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.
HPO phenotypes
26 annotations · validated 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002314 | Degeneration of the lateral corticospinal tracts | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007020 | Progressive spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002169 | Clonus | |
| HP:0030014 | Female sexual dysfunction | |
| HP:0010831 | Impaired proprioception | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0002070 | Limb ataxia | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0040307 | Male sexual dysfunction | |
| HP:0003394 | Muscle spasm | |
| HP:0001761 | Pes cavus | |
| HP:0002064 | Spastic gait | |
| HP:0100561 | Spinal cord lesion | |
| HP:0000020 | Urinary incontinence | |
| HP:0000012 | Urinary urgency | |
| Occasional (29-5%) | ||
| HP:0002607 | Bowel incontinence | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| Excluded (0%) | ||
| HP:0012898 | Abnormal lower-limb motor evoked potentials | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0003457 | EMG abnormality | |
| HP:0001250 | Seizure | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 10677333[PMID]_10441583[PMID]_12427890[PMID]_22232211[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100993
- This record as JSON: /data/d/100993.json