Autosomal recessive spastic paraplegia type 5A
Synonyms: SPG5A
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 5A | SPG5A |
| fr | Paraplégie spastique autosomique récessive type 5A | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 5A | = en |
| es | Paraplejía espástica autosómica recesiva tipo 5A | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 5A | = en |
| nl | Autosomaal recessieve spastische paraplegie type 5A | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 5A | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 5A | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 5A | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 5А | = en |
| zh | 常染色体隐性遗传痉挛性截瘫5A型 | = en |
| tr | Otozomal resesif spastik parapleji tip 5A | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270800 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0010047 | E | validated | |
| MeSH | C564811 | E | validated | |
| UMLS | C1849115 | E | validated | |
| GARD | 4926 | 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:320346Pure or complex autosomal recessive spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP7B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2652 | ENSG00000172817 | 603711 | 8q12.3 | cytochrome P450 family 7 subfamily B member 1 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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
24 annotations · validated 2018-02-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001258 | Spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0011448 | Ankle clonus | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0001761 | Pes cavus | |
| Occasional (29-5%) | ||
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0002070 | Limb ataxia | |
| HP:0002078 | Truncal ataxia | |
| Very rare (<4-1%) | ||
| HP:0000518 | Cataract | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0000639 | Nystagmus | |
| HP:0001271 | Polyneuropathy | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0009129 | Upper limb amyotrophy | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0006986 | Upper limb spasticity | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 19439420[PMID]_19187859[PMID]_24641183[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100986
- This record as JSON: /data/d/100986.json