Autosomal recessive spastic paraplegia type 23
Synonyms: Lison syndrome · SPG23
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 23 | Lison syndrome · SPG23 |
| fr | Paraplégie spastique autosomique récessive type 23 | SPG23 · Syndrome de Lison · Syndrome de paraparésie spastique-vitiligo-cheveux gris prématurés-faciès particulier |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 23 | Lison-Syndrom · SPG23 |
| es | Paraplejía espástica autosómica recesiva tipo 23 | SPG23 · Síndrome de Lison |
| it | Paraplegia spastica autosomica recessiva tipo 23 | SPG23 · Sindrome di Lison |
| nl | Autosomaal recessieve spastische paraplegie type 23 | SPG23 · Spastische paraparese - vitiligo - vroegtijdige vergrijzing - kenmerkend gelaat · Syndroom van Lison |
| pt | Paraplegia espástica autossómica recessiva tipo 23 | SPG23 · Síndrome Lison |
| pl | Autosomalna recesywna paraplegia spastyczna typu 23 | Parapareza spastyczna - bielactwo nabyte - przedwczesne siwienie - charakterystyczna twarz · SPG23 · Zespół Lisona |
| cs | Autozomálně recesivní spastická paraplegie, typ 23 | SPG23 · Lisonův syndrom · Syndrom zahrnující spastickou paraparézu, vitiligo, předčasné šednutí a charakteristické facies |
| uk | Аутосомно-рецесивна спастична параплегія, тип 23 | Синдром Лісона · Спастичний парапарез-вітіліго-передчасне посивіння-характерний фаціальний синдром · SPG23 |
| zh | 常染色体隐性遗传痉挛性截瘫23型 | 痉挛性截瘫-白癜风-须发早白-特征面容综合征 |
| tr | Otozomal resesif spastik parapleji tip 23 | SPG23 · Lison sendromu · Spastik paraparezi-vitiligo-erken grileşme-karakteristik fasies sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270750 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0010046 | E | validated | |
| MeSH | C536859 | E | validated | |
| UMLS | C0796019 | E | validated | |
| GARD | 336 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DSTYK | Disease-causing germline mutation(s) in | Assessed | HGNC:29043 | ENSG00000133059 | 612666 | 1q32.1 | dual serine/threonine and tyrosine protein kinase | 28157540[PMID] |
| SPG23 | Disease-causing germline mutation(s) in | Assessed | HGNC:21340 | 1q24-q32 | spastic paraplegia 23 (autosomal recessive) |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 7294071[PMID]_6264350[PMID]_6886718[PMID]_4061404[PMID]_12868479[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7294071[PMID]_6264350[PMID]_6886718[PMID]_4061404[PMID]_12868479[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
14 annotations · validated 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002607 | Bowel incontinence | |
| HP:0012701 | Bowel urgency | |
| HP:0001347 | Hyperreflexia | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001003 | Multiple lentigines | |
| HP:0002064 | Spastic gait | |
| HP:0001258 | Spastic paraplegia | |
| HP:0001045 | Vitiligo | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0002827 | Hip dislocation | |
| HP:0000085 | Horseshoe kidney | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0002218 | Silver-gray hair | |
Annotation source: 12868479[PMID]_28157540[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101003
- This record as JSON: /data/d/101003.json