Autosomal recessive spastic paraplegia type 53
Synonyms: SPG53
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the <i>VPS37A</i> gene (8p22) encoding vacuolar protein sorting-associated protein 37A.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 53 | SPG53 |
| fr | Paraplégie spastique autosomique récessive type 53 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 53 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 53 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 53 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 53 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 53 | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 53 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 53 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 53 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫53型 | SPG53型 |
| tr | Otozomal resesif spastik parapleji tip 53 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614898 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0013962 | E | validated | |
| UMLS | C3539494 | E | validated | |
| GARD | 17445 | 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:100981Autosomal recessive complex 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 |
|---|---|---|---|---|---|---|---|---|
| VPS37A | Disease-causing germline mutation(s) in | Assessed | HGNC:24928 | ENSG00000155975 | 609927 | 8p22 | VPS37A subunit of ESCRT-I | 22717650[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 22717650[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22717650[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
16 annotations · validated 2018-04-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002169 | Clonus | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001382 | Joint hypermobility | |
| HP:0002808 | Kyphosis | |
| HP:0000768 | Pectus carinatum | |
| HP:0200049 | Upper limb hypertonia | |
| Occasional (29-5%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0002451 | Limb dystonia | |
| Very rare (<4-1%) | ||
| HP:0000372 | Abnormality of the auditory canal | |
| HP:0002539 | Cortical dysplasia | |
| HP:0001508 | Failure to thrive | |
| HP:0010831 | Impaired proprioception | |
| HP:0000252 | Microcephaly | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22717650[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319199
- This record as JSON: /data/d/319199.json