Autosomal recessive spastic paraplegia type 71
Synonyms: SPG71
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A type of autosomal recessive pure hereditary spastic paraplegia characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 71 | SPG71 |
| fr | Paraplégie spastique autosomique récessive type 71 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 71 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 71 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 71 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 71 | = en |
| pt | Paraplegia espástica autossómica recessiva, tipo 71 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 71 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 71 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 71 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫71型 | = en |
| tr | Otozomal resesif spastik parapleji tip 71 | = en |
Definition in:
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 | 0018423 | E | validated | |
| UMLS | C5190578 | 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:100982Autosomal recessive pure spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZFR | Disease-causing germline mutation(s) in | Assessed | HGNC:17277 | ENSG00000056097 | 615635 | 5p13.3 | zinc finger RNA binding protein | 24482476[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 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
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:0003487 | Babinski sign | |
| HP:0001263 | Global developmental delay | |
| HP:0002378 | Hand tremor | |
| HP:0001347 | Hyperreflexia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002061 | Lower limb spasticity | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0007020 | Progressive spastic paraplegia | Diagnostic criterion |
| HP:0002064 | Spastic gait | |
| Excluded (0%) | ||
| HP:0003457 | EMG abnormality | |
Annotation source: 24482476[PMID]_27271711[PMID]_27217339[PMID]_24954637[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401840
- This record as JSON: /data/d/401840.json