Autosomal dominant spastic paraplegia type 6
Synonyms: SPG6
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and <i>pes cavus</i>. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 6 | SPG6 |
| fr | Paraplégie spastique autosomique dominante type 6 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 6 | = en |
| es | Paraplejía espástica autosómica dominante tipo 6 | = en |
| it | Paraplegia spastica autosomica dominante, tipo 6 | |
| nl | Autosomaal dominante spastische paraplegie type 6 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 6 | = en |
| pl | Autosomalna dominująca paraplegia spastyczna typu 6 | Autosomalna dominująca rodzinna paraplegia spastyczna typu 3 · SPG6 |
| cs | Autozomálně dominantní spastická paraplegie, typ 6 | SPG6 · Autozomálně dominantní familiární spastická paraplegie, typ 3 |
| uk | Аутосомно-домінантна спастична параплегія, тип 6 | = en |
| zh | 常染色体显性遗传痉挛性截瘫6型 | = en |
| tr | Otozomal dominant spastik parapleji tip 6 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600363 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0010878 | E | validated | |
| MeSH | C536866 | E | validated | |
| UMLS | C1838192 | E | validated | |
| GARD | 4928 | 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:320342Pure or complex autosomal dominant spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NIPA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17043 | ENSG00000170113 | 608145 | 15q11.2 | NIPA magnesium transporter 1 | 14508710[PMID]_15643603[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 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.
HPO phenotypes
13 annotations · validated 2018-02-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001288 | Gait disturbance | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001258 | Spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0010505 | Limitation of movement at ankles | |
| HP:0008800 | Limited hip movement | |
| HP:0001761 | Pes cavus | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0002174 | Postural tremor | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 7854534[PMID]_15711826[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100988
- This record as JSON: /data/d/100988.json