ORPHA:306617
X-linked complicated spastic paraplegia type 1
Synonyms: SPG1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked complicated spastic paraplegia type 1 | SPG1 |
| fr | Paraplégie spastique liée à l'X type 1 | = en |
| de | Spastische Paraplegie, komplizierte, X-chromosomale, Typ 1 | = en |
| es | Paraplejía espástica complicada tipo 1 ligada al cromosoma X | = en |
| it | Paraplegia spastica complicata legata all'X tipo 1 | = en |
| nl | X-gebonden gecompliceerde spastische paraplegie type 1 | = en |
| pt | Paraplegia espástica agravada ligada ao X tipo 1 | Paraplegia espástica agravada ligada ao X tipo 1 |
| pl | Powikłana paraplegia spastyczna typu 1 sprzężona z chromosomem X | = en |
| cs | X-vázaná komplikovaná spastická paraplegie, typ 1 | = en |
| uk | Х-зчеплена ускладнена спастична параплегія, тип 1 | = en |
| zh | X连锁复杂性痉挛性截瘫1型 | 痉挛性截瘫1型 |
| tr | X'e bağlı karmaşık spastik parapleji tip 1 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017630 | E | validated | |
| UMLS | C5779711 | 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:275543L1 syndrome
rare developmental anomalies during embryogenesis; 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 |
|---|---|---|---|---|---|---|---|---|
| L1CAM | Disease-causing germline mutation(s) in | Assessed | HGNC:6470 | ENSG00000198910 | 308840 | Xq28 | L1 cell adhesion molecule | 20301657[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
9 annotations · validated 2020-10-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001258 | Spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Occasional (29-5%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0001251 | Ataxia | |
| HP:0001268 | Mental deterioration | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26008818[PMID]_22266886[PMID]_20301657[PMID]_23897027[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306617
- This record as JSON: /data/d/306617.json