Autosomal recessive spastic paraplegia type 43
Synonyms: SPG43
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 43 | SPG43 |
| fr | Paraplégie spastique autosomique récessive type 43 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 43 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 43 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 43 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 43 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 43 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 43 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 43 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 43 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫43型 | = en |
| tr | Otozomal resesif spastik parapleji tip 43 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615043 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0014024 | E | validated | |
| UMLS | C2680446 | E | validated | |
| GARD | 17473 | 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:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| C19ORF12 | Disease-causing germline mutation(s) in | Assessed | HGNC:25443 | ENSG00000131943 | 614297 | 19q12 | chromosome 19 open reading frame 12 | 23857908[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 20039086[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20039086[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
17 annotations · validated 2018-05-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0002064 | Spastic gait | |
| HP:0002313 | Spastic paraparesis | |
| Frequent (79-30%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0006466 | Ankle flexion contracture | |
| HP:0001348 | Brisk reflexes | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0001290 | Generalized hypotonia | |
| HP:0007083 | Hyperactive patellar reflex | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0006380 | Knee flexion contracture | |
| HP:0001761 | Pes cavus | |
| HP:0001257 | Spasticity | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20039086[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320370
- This record as JSON: /data/d/320370.json