Spastic paraplegia type 2
Synonyms: SPG2 · Spastic gait type 2 · Spastic paraparesis type 2 · X-linked spastic paraplegia type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia type 2 | SPG2 · Spastic gait type 2 · Spastic paraparesis type 2 · X-linked spastic paraplegia type 2 |
| fr | Paraplégie spastique type 2 | Démarche spastique type 2 · Paraparésie spastique type 2 · Paraplégie spastique liée à l'X type 2 · SPG2 |
| de | Spastische Paraplegie Typ 2 | SPG2 · Spastische Paraparese Typ 2 · Spastische Paraplegie, X-chromosomale, Typ 2 |
| es | Paraplejía espástica tipo 2 | Marcha espástica tipo 2 · Paraplejía espástica ligada al cromosoma X tipo 2 · SPG2 |
| it | Paraplegia spastica, tipo 2 | Deambulazione spastica, tipo 2 · Paraparesi spastica, tipo 2 · Paraplegia spastica legata all'X, tipo 2 · SPG2 |
| nl | Spastische paraplegie type 2 | SPG2 · Spastische gang type 2 · Spastische paraparese type 2 · X-gebonden spastische paraplegie type 2 |
| pt | Paraplegia espástica tipo 2 | Paraparesia espástica tipo 2 · Paraplegia espástica ligada ao X tipo 2 · SPG2 |
| pl | Paraplegia spastyczna typu 2 | Chód spastyczny typu 2 · Parapareza spastyczna typu 2 · Paraplegia spastyczna typu 2 sprzężona z chromosomem X · SPG2 |
| cs | Spastická paraplegie, typ 2 | SPG2 · Spastická paraparéza, typ 2 · X-vázaná spastická paraplegie, typ 2 · Spastická chůze, typ 2 |
| uk | Спастична параплегія, тип 2 | Спастичний тип ходи 2 · Спастичний парапарез 2 типу · SPG2 · Х-зчеплена спастична параплегія типу 2 |
| zh | 遗传痉挛性截瘫2型 | X连锁痉挛性截瘫2型 |
| tr | Spastik parapleji tip 2 | SPG2 · Spastik yürüyüş şekli tip 2 · Spastik paraparezi tip 2 · X'e bağlı spastik parapleji tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312920 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0010733 | E | validated | |
| MeSH | C536857 | E | validated | |
| UMLS | C1839264 | E | validated | |
| GARD | 4923 | 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 (3):
- ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:320350Pure or complex X-linked spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9086 | ENSG00000123560 | 300401 | Xq22.2 | proteolipid protein 1 | 20301361[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | 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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001347 | Hyperreflexia | |
| HP:0001324 | Muscle weakness | |
| HP:0002064 | Spastic gait | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0002607 | Bowel incontinence | |
| HP:0001249 | Intellectual disability | |
| HP:0000648 | Optic atrophy | |
| HP:0005340 | Spastic/hyperactive bladder | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000639 | Nystagmus | |
| HP:0002204 | Pulmonary embolism | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000763 | Sensory neuropathy | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301361[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99015
- This record as JSON: /data/d/99015.json