Autosomal recessive spastic paraplegia type 66
Synonyms: SPG66
- 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, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 66 | SPG66 |
| fr | Paraplégie spastique autosomique récessive type 66 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 66 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 66 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 66 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 66 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 66 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 66 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 66 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 66 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫66型 | = en |
| tr | Otozomal resesif spastik parapleji tip 66 | = 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 | 0018418 | E | validated | |
| UMLS | C5190590 | E | validated | |
| GARD | 21697 | 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 |
|---|---|---|---|---|---|---|---|---|
| ARSI | Disease-causing germline mutation(s) in | Assessed | HGNC:32521 | ENSG00000183876 | 610009 | 5q32 | arylsulfatase family member I | 24482476[PMID] |
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.
HPO phenotypes
14 annotations · validated 2018-10-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001301 | Chronic sensorineural polyneuropathy | Diagnostic criterion |
| HP:0030048 | Colpocephaly | Diagnostic criterion |
| HP:0001288 | Gait disturbance | |
| HP:0002079 | Hypoplasia of the corpus callosum | Diagnostic criterion |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0001249 | Intellectual disability | |
| HP:0002509 | Limb hypertonia | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007020 | Progressive spastic paraplegia | Diagnostic criterion |
| HP:0002064 | Spastic gait | |
| HP:0001762 | Talipes equinovarus | |
Annotation source: 24482476[PMID]_27271711[PMID]_27217339[PMID]_24954637[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401815
- This record as JSON: /data/d/401815.json