Autosomal dominant spastic paraplegia type 10
Synonyms: SPG10
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 10 | SPG10 |
| fr | Paraplégie spastique autosomique dominante type 10 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 10 | = en |
| es | Paraplejía espástica autosómica dominante tipo 10 | = en |
| it | Paraplegia spastica autosomica dominante, tipo 10 | = en |
| nl | Autosomaal dominante spastische paraplegie type 10 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 10 | = en |
| pl | Autosomalna dominująca paraplegia spastyczna typu 10 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 10 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 10 | = en |
| zh | 常染色体显性遗传痉挛性截瘫10型 | = en |
| tr | Otozomal dominant spastik parapleji tip 10 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604187 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0011408 | E | validated | |
| MeSH | C537482 | E | validated | |
| UMLS | C1858712 | E | validated | |
| GARD | 9590 | 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 (2):
- ORPHA:320342Pure or complex autosomal dominant spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIF5A | Disease-causing germline mutation(s) in | Assessed | HGNC:6323 | ENSG00000155980 | 602821 | 12q13.3 | kinesin family member 5A | 21623771[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
28 annotations · validated 2018-12-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002061 | Lower limb spasticity | |
| Very frequent (99-80%) | ||
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0002395 | Lower limb hyperreflexia | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002936 | Distal sensory impairment | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0006886 | Impaired distal vibration sensation | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0031958 | Spastic paraparetic gait | |
| HP:0005340 | Spastic/hyperactive bladder | |
| HP:0002493 | Upper motor neuron dysfunction | |
| HP:0000012 | Urinary urgency | |
| Occasional (29-5%) | ||
| HP:0005679 | Dupuytren contracture | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0003401 | Paresthesia | |
| HP:0001761 | Pes cavus | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0009129 | Upper limb amyotrophy | |
| HP:0002619 | Varicose veins | |
| Very rare (<4-1%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0100543 | Cognitive impairment | |
| HP:0000365 | Hearing impairment | |
| HP:0001300 | Parkinsonism | |
| HP:0002650 | Scoliosis | |
| HP:0006986 | Upper limb spasticity | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301682[PMID]_18853458[PMID]_10441583[PMID]_8649538[PMID]_15452312[PMID]_16489470[PMID]_21623771[PMID]_25352184[PMID]_18853458[PMID]_21623771[PMID]_25008398[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100991
- This record as JSON: /data/d/100991.json