Autosomal recessive spastic paraplegia type 25
Synonyms: Autosomal recessive spastic paraplegia-disc herniation syndrome · SPG25
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 25 | Autosomal recessive spastic paraplegia-disc herniation syndrome · SPG25 |
| fr | Paraplégie spastique autosomique récessive type 25 | SPG25 · Syndrome autosomique récessive de paraplégie spastique-hernie discale |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 25 | SPG25 · Spastische Paraplegie, autosomal-rezessive - Bandscheibenvorfall |
| es | Paraplejía espástica autosómica recesiva tipo 25 | Paraplejía espástica autosómica recesiva-hernia de disco · SPG25 |
| it | Paraplegia spastica autosomica recessiva, tipo 25 | Paraplegia spastica autosomica recessiva - ernia del disco · SPG25 |
| nl | Autosomaal recessieve spastische paraplegie type 25 | Autosomaal recessieve spastische paraplegie - hernia van tussenwervelschijf-syndroom · SPG25 |
| pt | Paraplegia espástica autossómica recessiva tipo 25 | SPG25 |
| pl | Autosomalna recesywna paraplegia spastyczna typu 25 | Autosomalna recesywna paraplegia spastyczna - przepuklina dysku · SPG25 |
| cs | Autozomálně recesivní spastická paraplegie, typ 25 | SPG25 · Syndrom zahrnující autozomálně recesivní spastickou paraplegii a herniaci disku |
| uk | Аутосомно-рецесивна спастична параплегія, тип 25 | Аутосомно-рецесивний синдром спастичної параплегії-грижі міжхребцевого диска · SPG25 |
| zh | 常染色体隐性遗传痉挛性截瘫25型 | 常染色体隐性遗传性痉挛性截瘫-椎间盘突出综合征 |
| tr | Otozomal resesif spastik parapleji tip 25 | SPG25 · Otozomal çekinik spastik parapleji-disk herniasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608220 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0011992 | E | validated | |
| MONDO | 11992 | E | validated | |
| MeSH | C536861 | E | validated | |
| UMLS | C2936860 | E | validated | |
| GARD | 9582 | 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:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG25 | Disease-causing germline mutation(s) in | Assessed | HGNC:25855 | 6q23-q24.1 | spastic paraplegia 25 (autosomal recessive, with disc herniation) |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 12070243[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12070243[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
13 annotations · validated 2018-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008441 | Herniation of intervertebral nuclei | |
| HP:0002385 | Paraparesis | |
| Frequent (79-30%) | ||
| HP:0012514 | Lower limb pain | |
| HP:0030833 | Neck pain | |
| HP:0000763 | Sensory neuropathy | |
| HP:0001258 | Spastic paraplegia | |
| Occasional (29-5%) | ||
| HP:0100712 | Abnormal lumbar spine morphology | |
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0008480 | Cervical spondylosis | |
| HP:0000519 | Developmental cataract | |
| HP:0001087 | Developmental glaucoma | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0012513 | Upper limb pain | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 12070243[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101005
- This record as JSON: /data/d/101005.json