Autosomal recessive spastic paraplegia type 27
Synonyms: SPG27
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 27 | SPG27 |
| fr | Paraplégie spastique autosomique récessive type 27 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 27 | = en |
| es | Paraplejía espástica autosómica recesiva, tipo 27 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 27 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 27 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 27 | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 27 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 27 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 27 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫27型 | = en |
| tr | Otozomal resesif spastik parapleji tip 27 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609041 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0012181 | E | validated | |
| MeSH | C563807 | E | validated | |
| UMLS | C1836899 | E | validated | |
| GARD | 16940 | 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 |
|---|---|---|---|---|---|---|---|---|
| SPG27 | Disease-causing germline mutation(s) in | Assessed | HGNC:26071 | 10q22.1-q24.1 | spastic paraplegia 27 (autosomal recessive) |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 15455396[PMID]_16511635[PMID]_20301682[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15455396[PMID]_16511635[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
9 annotations · validated 2018-04-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0006938 | Impaired vibration sensation at ankles | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0001258 | Spastic paraplegia | |
| HP:0005340 | Spastic/hyperactive bladder | |
| Occasional (29-5%) | ||
| HP:0007377 | Abnormality of somatosensory evoked potentials | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| Very rare (<4-1%) | ||
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 15455396[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101007
- This record as JSON: /data/d/101007.json