Autosomal dominant spastic paraplegia type 37
Synonyms: SPG37
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 37 | SPG37 |
| fr | Paraplégie spastique autosomique dominante type 37 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 37 | = en |
| es | Paraplejía espástica autosómica dominante tipo 37 | |
| it | Paraplegia spastica autosomica dominante, tipo 37 | = en |
| nl | Autosomaal dominante spastische paraplegie type 37 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 37 | = en |
| pl | Autosomalna dominująca paraplegia spastyczna typu 37 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 37 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 37 | = en |
| zh | 常染色体显性遗传痉挛性截瘫37型 | = en |
| tr | Otozomal dominant spastik parapleji tip 37 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611945 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0012766 | E | validated | |
| MeSH | C567931 | E | validated | |
| UMLS | C2936880 | 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 |
|---|---|---|---|---|---|---|---|---|
| KPNA3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6396 | ENSG00000102753 | 601892 | 13q14.2 | karyopherin subunit alpha 3 | 34564892[PMID] |
| SPG37 | Disease-causing germline mutation(s) in | Assessed | HGNC:33472 | 8p21.2-q13.3 | spastic paraplegia 37 (autosomal dominant) |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 17605047[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17605047[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
20 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:0007020 | Progressive spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001347 | Hyperreflexia | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002061 | Lower limb spasticity | |
| HP:0100561 | Spinal cord lesion | |
| Occasional (29-5%) | ||
| HP:0002169 | Clonus | |
| HP:0012378 | Fatigue | |
| HP:0001288 | Gait disturbance | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0003394 | Muscle spasm | |
| HP:0001761 | Pes cavus | |
| HP:0002064 | Spastic gait | |
| HP:0000012 | Urinary urgency | |
| 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 2 obligate / very frequent terms
Annotation source: 17605047[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171612
- This record as JSON: /data/d/171612.json