ORPHA:100997
X-linked spastic paraplegia type 16
Synonyms: SPG16
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked spastic paraplegia type 16 | SPG16 |
| fr | Paraplégie spastique liée à l'X type 16 | = en |
| de | Spastische Paraplegie, X-chromosomale, Typ 16 | = en |
| es | Paraplejía espástica ligada al cromosoma X tipo 16 | |
| it | Paraplegia spastica legata all'X tipo 16 | = en |
| nl | X-gebonden spastische paraplegie type 16 | = en |
| pt | Paraplegia espástica ligada ao X tipo 16 | = en |
| pl | Paraplegia spastyczna typu 16 sprzężona z chromosomem X | = en |
| cs | X-vázaná spastická paraplegie, typ 16 | = en |
| uk | Х-зчеплена спастична параплегія, тип 16 | = en |
| zh | X连锁遗传痉挛性截瘫16型 | = en |
| tr | X'e bağlı spastik parapleji tip 16 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300266 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.02 | NTBT | index | validated |
| MONDO | 0010287 | E | validated | |
| MeSH | C536643 | E | validated | |
| UMLS | C1846046 | E | validated | |
| GARD | 9585 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:320350Pure or complex X-linked spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG16 | Disease-causing germline mutation(s) in | Assessed | HGNC:14260 | Xq11.2 | spastic paraplegia 16 (complicated, X-linked recessive) |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 9254866[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9254866[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.
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HPO phenotypes
9 annotations · validated 2018-02-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001844 | Abnormal hallux morphology | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0012719 | Functional abnormality of the gastrointestinal tract | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002427 | Motor aphasia | |
| HP:0001270 | Motor delay | |
| HP:0000639 | Nystagmus | |
| HP:0002445 | Tetraplegia | |
| HP:0000572 | Visual loss | |
Annotation source: 9254866[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100997
- This record as JSON: /data/d/100997.json