Autosomal recessive spastic paraplegia type 56
Synonyms: SPG56
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 56 | SPG56 |
| fr | Paraplégie spastique autosomique récessive type 56 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 56 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 56 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 56 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 56 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 56 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 56 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 56 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 56 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫56型 | = en |
| tr | Otozomal resesif spastik parapleji tip 56 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615030 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0014015 | E | validated | |
| UMLS | C3539507 | E | validated | |
| GARD | 17480 | 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 |
|---|---|---|---|---|---|---|---|---|
| CYP2U1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20582 | ENSG00000155016 | 610670 | 4q25 | cytochrome P450 family 2 subfamily U member 1 | 23176821[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 23176821[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23176821[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 2018-02-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002395 | Lower limb hyperreflexia | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0002064 | Spastic gait | |
| HP:0030051 | Tip-toe gait | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0002453 | Abnormal globus pallidus morphology | |
| HP:0100543 | Cognitive impairment | |
| HP:0001332 | Dystonia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001249 | Intellectual disability | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0001258 | Spastic paraplegia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23176821[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320411
- This record as JSON: /data/d/320411.json