Autosomal recessive spastic paraplegia type 48
Synonyms: SPG48
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare, pure or complex form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 48 | SPG48 |
| fr | Paraplégie spastique autosomique récessive type 48 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 48 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 48 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 48 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 48 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 48 | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 48 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 48 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, типу 48 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫48型 | 痉挛性截瘫48型 |
| tr | Otozomal resesif spastik parapleji tip 48 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613647 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0013342 | E | validated | |
| UMLS | C3150901 | E | validated | |
| GARD | 17378 | 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:68366Lysosomal disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:320346Pure or complex autosomal recessive spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AP5Z1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:22197 | ENSG00000242802 | 613653 | 7p22.1 | adaptor related protein complex 5 subunit zeta 1 | 20613862[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 20613862[PMID] | |
| 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
19 annotations · validated 2018-02-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0007020 | Progressive spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0001251 | Ataxia | |
| HP:0100543 | Cognitive impairment | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001336 | Myoclonus | |
| HP:0002064 | Spastic gait | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| HP:0000020 | Urinary incontinence | |
| Occasional (29-5%) | ||
| HP:0002136 | Broad-based gait | |
| HP:0001300 | Parkinsonism | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000488 | Retinopathy | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20613862[PMID]_24833714[PMID]_26085577[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306511
- This record as JSON: /data/d/306511.json