Autosomal recessive spastic paraplegia type 70
Synonyms: SPG70
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 70 | SPG70 |
| fr | Paraplégie spastique autosomique récessive type 70 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 70 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 70 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 70 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 70 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 70 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 70 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 70 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 70 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫70型 | = en |
| tr | Otozomal resesif spastik parapleji tip 70 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620323 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0018422 | E | validated | |
| UMLS | C4749431 | E | validated | |
| GARD | 21700 | 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 |
|---|---|---|---|---|---|---|---|---|
| MARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6898 | ENSG00000166986 | 156560 | 12q13.3 | methionyl-tRNA synthetase 1 | 24482476[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 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.
HPO phenotypes
10 annotations · validated 2018-10-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012447 | Abnormal myelination | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0100022 | Abnormality of movement | |
| HP:0001263 | Global developmental delay | |
| HP:0002378 | Hand tremor | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002061 | Lower limb spasticity | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0007020 | Progressive spastic paraplegia | Diagnostic criterion |
| Very rare (<4-1%) | ||
| HP:0000100 | Nephrotic syndrome | |
Annotation source: 24482476[PMID]_27271711[PMID]_27217339[PMID]_24954637[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401835
- This record as JSON: /data/d/401835.json