Autosomal recessive spastic paraplegia type 62
Synonyms: SPG62
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 62 | SPG62 |
| fr | Paraplégie spastique autosomique récessive type 62 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 62 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 62 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 62 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 62 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 62 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 62 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 62 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 62 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫62型 | = en |
| tr | Otozomal resesif spastik parapleji tip 62 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615681 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0014302 | E | validated | |
| UMLS | C4284588 | E | validated | |
| GARD | 17657 | 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 |
|---|---|---|---|---|---|---|---|---|
| ERLIN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:16947 | ENSG00000107566 | 611604 | 10q24.31 | ER lipid raft associated 1 | 24482476[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 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 2018-05-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002061 | Lower limb spasticity | |
| Frequent (79-30%) | ||
| HP:0001260 | Dysarthria | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0030051 | Tip-toe gait | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0001284 | Areflexia | |
| HP:0002169 | Clonus | |
| HP:0006380 | Knee flexion contracture | |
| HP:0012514 | Lower limb pain | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0002064 | Spastic gait | |
| HP:0002943 | Thoracic scoliosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24482476[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401785
- This record as JSON: /data/d/401785.json