Autosomal recessive spastic paraplegia type 45
Synonyms: Autosomal recessive spastic paraplegia type 65 · SPG45 · SPG65
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 45 | Autosomal recessive spastic paraplegia type 65 · SPG45 · SPG65 |
| fr | Paraplégie spastique autosomique récessive type 45 | Paraplégie spastique autosomique récessive type 65 · SPG45 · SPG65 |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 45 | SPG45 · SPG65 · Spastische Paraplegie, autosomal-rezessive, Typ 65 |
| es | Paraplejía espástica autosómica recesiva tipo 45 | Paraplejía espástica autosómica recesiva tipo 65 · SPG45 · SPG65 |
| it | Paraplegia spastica autosomica recessiva, tipo 45 | Paraplegia spastica autosomica recessiva, tipo 65 · SPG45 · SPG65 |
| nl | Autosomaal recessieve spastische paraplegie type 45 | Autosomaal recessieve spastische paraplegie type 65 · SPG45 · SPG65 |
| pt | Paraplegia espástica autossómica recessiva tipo 45 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 45 | Autosomalna recesywna paraplegia spastyczna typu 65 · SPG45 · SPG65 |
| cs | Autozomálně recesivní spastická paraplegie, typ 45 | SPG45 · SPG65 · Autozomálně recesivní spastická paraplegie, typ 65 |
| uk | Аутосомно-рецесивна спастична параплегія, тип 45 | Аутосомно-рецесивна спастична параплегія типу 65 · SPG45 · SPG65 |
| zh | 常染色体隐性遗传痉挛性截瘫45型 | 常染色体隐性遗传痉挛性截瘫65型 |
| tr | Otozomal resesif spastik parapleji tip 45 | SPG45 · SPG65 · Otozomal çekinik spastik parapleji tip 65 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613162 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0013165 | E | validated | |
| UMLS | C3888209 | E | validated | |
| GARD | 17477 | 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 (2):
- ORPHA:320346Pure or complex autosomal recessive spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NT5C2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8022 | ENSG00000076685 | 600417 | 10q24.32-q24.33 | 5'-nucleotidase, cytosolic II | 24482476[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 families | Worldwide | Family(ies) | Validated | 28884889[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28884889[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 2018-02-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0003487 | Babinski sign | |
| HP:0005830 | Flexion contracture of toe | |
| HP:0001249 | Intellectual disability | |
| HP:0006380 | Knee flexion contracture | |
| HP:0002061 | Lower limb spasticity | |
| HP:0002064 | Spastic gait | |
| HP:0001258 | Spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0001270 | Motor delay | |
| HP:0012043 | Pendular nystagmus | |
| Occasional (29-5%) | ||
| HP:0000545 | Myopia | |
| HP:0000648 | Optic atrophy | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 19415352[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320396
- This record as JSON: /data/d/320396.json