ORPHA:401830
Autosomal recessive spastic paraplegia type 69
Synonyms: SPG69
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 69 | SPG69 |
| fr | Paraplégie spastique autosomique récessive type 69 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 69 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 69 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 69 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 69 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 69 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 69 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 69 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 69 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫69型 | = en |
| tr | Otozomal resesif spastik parapleji tip 69 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0018421 | E | validated | |
| UMLS | C5190577 | E | validated | |
| GARD | 21699 | 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:100981Autosomal recessive complex 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 |
|---|---|---|---|---|---|---|---|---|
| RAB3GAP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17168 | ENSG00000118873 | 609275 | 1q41 | RAB3 GTPase activating non-catalytic protein subunit 2 | 24482476[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24482476[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24482476[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
13 annotations · validated 2018-10-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012447 | Abnormal myelination | |
| HP:0100022 | Abnormality of movement | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | |
| HP:0000518 | Cataract | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0002378 | Hand tremor | |
| HP:0000365 | Hearing impairment | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007020 | Progressive spastic paraplegia | Diagnostic criterion |
| HP:0002464 | Spastic dysarthria | |
Annotation source: 24482476[PMID]_27271711[PMID]_27217339[PMID]_24954637[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401830
- This record as JSON: /data/d/401830.json