Autosomal dominant spastic paraplegia type 31
Synonyms: SPG31
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 31 | SPG31 |
| fr | Paraplégie spastique autosomique dominante type 31 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 31 | = en |
| es | Paraplejía espástica autosómica dominante tipo 31 | = en |
| it | Paraplegia spastica autosomica dominante, tipo 31 | = en |
| nl | Autosomaal dominante spastische paraplegie type 31 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 31 | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 31 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 31 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 31 | = en |
| zh | 常染色体显性遗传痉挛性截瘫31型 | = en |
| tr | Otozomal dominant spastik parapleji tip 31 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610250 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0012453 | E | validated | |
| MeSH | C565210 | E | validated | |
| UMLS | C1853247 | E | validated | |
| GARD | 10817 | 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 |
|---|---|---|---|---|---|---|---|---|
| REEP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25786 | ENSG00000068615 | 609139 | 2p11.2 | receptor accessory protein 1 | 22703882[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
18 annotations · validated 2018-02-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001348 | Brisk reflexes | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0002064 | Spastic gait | |
| Frequent (79-30%) | ||
| HP:0009046 | Difficulty running | |
| HP:0002936 | Distal sensory impairment | |
| HP:0001288 | Gait disturbance | |
| HP:0001288 | Gait disturbance | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0001276 | Hypertonia | |
| HP:0010831 | Impaired proprioception | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0001761 | Pes cavus | |
| HP:0008956 | Proximal lower limb amyotrophy | |
| Occasional (29-5%) | ||
| HP:0002483 | Bulbar signs | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0030237 | Hand muscle weakness | |
| HP:0001285 | Spastic tetraparesis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 16565863[PMID]_19034539[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101011
- This record as JSON: /data/d/101011.json