Autosomal dominant spastic paraplegia type 42
Synonyms: SPG42
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 42 | SPG42 |
| fr | Paraplégie spastique autosomique dominante type 42 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 42 | = en |
| es | Paraplejía espástica autosómica dominante tipo 42 | |
| it | Paraplegia spastica autosomica dominante, tipo 42 | = en |
| nl | Autosomaal dominante spastische paraplegie type 42 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 42 | = en |
| pl | Autosomalna dominująca paraplegia spastyczna typu 42 | = en |
| cs | Autozomálně dědičná spastická paraplegie, typ 42 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 42 | = en |
| zh | 常染色体显性痉挛性截瘫42型 | = en |
| tr | Otozomal dominant spastik parapleji tip 42 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612539 | BTNT | validated | |
| OMIM | 618087 | BTNT | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0012928 | E | validated | |
| MeSH | C567262 | E | validated | |
| UMLS | C2675528 | 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:100980Autosomal dominant pure spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC33A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:95 | ENSG00000169359 | 603690 | 3q25.31 | solute carrier family 33 member 1 | 19061983[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 19061983[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19061983[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 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002314 | Degeneration of the lateral corticospinal tracts | |
| HP:0001347 | Hyperreflexia | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0002064 | Spastic gait | |
| Frequent (79-30%) | ||
| HP:0002169 | Clonus | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0100561 | Spinal cord lesion | |
| Occasional (29-5%) | ||
| HP:0001761 | Pes cavus | |
| Excluded (0%) | ||
| HP:0012898 | Abnormal lower-limb motor evoked potentials | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0003457 | EMG abnormality | |
| HP:0001250 | Seizure | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 19061983[PMID]_20461110[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171863
- This record as JSON: /data/d/171863.json