Autosomal recessive spastic paraplegia type 67
Synonyms: SPG67
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 67 | SPG67 |
| fr | Paraplégie spastique autosomique récessive type 67 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 67 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 67 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 67 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 67 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 67 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 67 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 67 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 67 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫67型 | = en |
| tr | Otozomal resesif spastik parapleji tip 67 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615802 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0018419 | E | validated | |
| UMLS | C4707829 | E | validated | |
| GARD | 21698 | 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 (3):
- ORPHA:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:309515Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PGAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25712 | ENSG00000197121 | 611655 | 2q33.1 | post-GPI attachment to proteins inositol deacylase 1 | 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
15 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:0003487 | Babinski sign | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0200085 | Limb tremor | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007020 | Progressive spastic paraplegia | Diagnostic criterion |
| HP:0002064 | Spastic gait | |
Annotation source: 24482476[PMID]_27271711[PMID]_27217339[PMID]_24954637[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401820
- This record as JSON: /data/d/401820.json