Autosomal recessive spastic paraplegia type 32
Synonyms: SPG32
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 32 | SPG32 |
| fr | Paraplégie spastique autosomique récessive type 32 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 32 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 32 | |
| it | Paraplegia spastica autosomica recessiva, tipo 32 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 32 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 32 | = en |
| pl | Autosomalna dominująca paraplegia spastyczna typu 32 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 32 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 32 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫32型 | = en |
| tr | Otozomal resesif spastik parapleji tip 32 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611252 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0012643 | E | validated | |
| MeSH | C566983 | E | validated | |
| UMLS | C1970009 | E | validated | |
| GARD | 12749 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG32 | Disease-causing germline mutation(s) in | Assessed | HGNC:32314 | 14q12-q21 | spastic paraplegia 32 (autosomal recessive) |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 17515546[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17515546[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
13 annotations · validated 2018-12-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001761 | Pes cavus | |
| Frequent (79-30%) | ||
| HP:0007361 | Abnormality of the pons | |
| HP:0003487 | Babinski sign | |
| HP:0008278 | Cerebellar cortical atrophy | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0007133 | Progressive peripheral neuropathy | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0002191 | Progressive spasticity | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 9762694[PMID]_17515546[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171622
- This record as JSON: /data/d/171622.json