Autosomal spastic paraplegia type 30
Synonyms: SPG30
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal spastic paraplegia type 30 | SPG30 |
| fr | Paraplégie spastique autosomique type 30 | = en |
| de | Spastische Paraplegie, autosomale, Typ 30 | = en |
| es | Paraplejía espástica autosómica tipo 30 | = en |
| it | Paraplegia spastica autosomica, tipo 30 | = en |
| nl | Autosomale spastische paraplegie type 30 | = en |
| pt | Paraplegia espástica autossómica tipo 30 | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 30 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 30 | = en |
| uk | Аутосомна спастична параплегія, тип 30 | = en |
| zh | 常染色体遗传痉挛性截瘫30型 | = en |
| tr | Otozomal spastik parapleji tip 30 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610357 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.0Y | NTBT | attributed | validated |
| MONDO | 0012476 | E | validated | |
| UMLS | C5235139 | 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:320346Pure or complex autosomal recessive spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIF1A | Disease-causing germline mutation(s) in | Assessed | HGNC:888 | ENSG00000130294 | 601255 | 2q37.3 | kinesin family member 1A | 22258533[PMID]_26410750[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 22258533[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22258533[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
15 annotations · validated 2018-02-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0002064 | Spastic gait | |
| HP:0002317 | Unsteady gait | |
| Frequent (79-30%) | ||
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0001251 | Ataxia | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002936 | Distal sensory impairment | |
| HP:0012407 | Scissor gait | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0003474 | Somatic sensory dysfunction | |
| Occasional (29-5%) | ||
| HP:0100275 | Diffuse cerebellar atrophy | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 16434418[PMID]_22258533[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101010
- This record as JSON: /data/d/101010.json