Autosomal recessive spastic paraplegia type 60
Synonyms: SPG60
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 60 | SPG60 |
| fr | Paraplégie spastique autosomique récessive type 60 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 60 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 60 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 60 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 60 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 60 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 60 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 60 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 60 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫60型 | = en |
| tr | Otozomal resesif spastik parapleji tip 60 | = 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 | 0018417 | E | validated | |
| UMLS | C5190589 | E | validated | |
| GARD | 21696 | 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 |
|---|---|---|---|---|---|---|---|---|
| WDR48 | Disease-causing germline mutation(s) in | Assessed | HGNC:30914 | ENSG00000114742 | 612167 | 3p22.2 | WD repeat domain 48 | 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
9 annotations · validated 2018-10-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002509 | Limb hypertonia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007002 | Motor axonal neuropathy | Diagnostic criterion |
| HP:0000639 | Nystagmus | Diagnostic criterion |
| HP:0002064 | Spastic gait | |
| HP:0001258 | Spastic paraplegia | Diagnostic criterion |
Annotation source: 24482476[PMID]_27271711[PMID]_27217339[PMID]_24954637[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401800
- This record as JSON: /data/d/401800.json