Autosomal recessive spastic paraplegia type 14
Synonyms: SPG14
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 14 | SPG14 |
| fr | Paraplégie spastique autosomique récessive type 14 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 14 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 14 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 14 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 14 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 14 | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 14 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 14 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 14 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫14型 | = en |
| tr | Otozomal resesif spastik parapleji tip 14 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605229 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0011522 | E | validated | |
| MeSH | C537486 | E | validated | |
| UMLS | C1854568 | E | validated | |
| GARD | 9589 | 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: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 |
|---|---|---|---|---|---|---|---|---|
| SPG14 | Disease-causing germline mutation(s) in | Assessed | HGNC:13730 | 3q27-q28 | spastic paraplegia 14 (autosomal recessive) |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 10877981[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10877981[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
7 annotations · validated 2018-02-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001347 | Hyperreflexia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0001761 | Pes cavus | |
| HP:0002064 | Spastic gait | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 10877981[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100995
- This record as JSON: /data/d/100995.json