Autosomal dominant spastic paraplegia type 36
Synonyms: SPG36
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 36 | SPG36 |
| fr | Paraplégie spastique autosomique dominante type 36 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 36 | = en |
| es | Paraplejía espástica autosómica dominante tipo 36 | = en |
| it | Paraplegia spastica autosomica dominante, tipo 36 | = en |
| nl | Autosomaal dominante spastische paraplegie type 36 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 36 | |
| pl | Autosomalna dominująca paraplegia spastyczna typu 36 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 36 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 36 | = en |
| zh | 常染色体显性遗传痉挛性截瘫36型 | = en |
| tr | Otozomal dominant spastik parapleji tip 36 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613096 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | attributed | validated |
| MONDO | 0013132 | E | validated | |
| MeSH | C567930 | E | validated | |
| UMLS | C2936879 | 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:100979Autosomal dominant complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG36 | Disease-causing germline mutation(s) in | Assessed | HGNC:33240 | 12q23-q24 | spastic paraplegia 36 (autosomal dominant) | 19357379[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 19357379[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19357379[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 2018-04-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001347 | Hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0002064 | Spastic gait | |
| Frequent (79-30%) | ||
| HP:0007220 | Demyelinating motor neuropathy | |
| HP:0011402 | Demyelinating sensory neuropathy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0006858 | Impaired distal proprioception | |
| HP:0006937 | Impaired distal tactile sensation | |
| HP:0006886 | Impaired distal vibration sensation | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0000020 | Urinary incontinence | |
| HP:0000012 | Urinary urgency | |
| Occasional (29-5%) | ||
| HP:0001369 | Arthritis | |
| HP:0001761 | Pes cavus | |
| HP:0000486 | Strabismus | |
| Excluded (0%) | ||
| HP:0012747 | Abnormal brainstem MRI signal intensity | |
| HP:0000726 | Dementia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 19357379[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320365
- This record as JSON: /data/d/320365.json