Autosomal dominant spastic paraplegia type 73
Synonyms: SPG73
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 73 | SPG73 |
| fr | Paraplégie spastique autosomique dominante type 73 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 73 | = en |
| es | Paraplejía espástica autosómica dominante tipo 73 | = en |
| it | Paraplegia spastica autosomica dominante, tipo 73 | = en |
| nl | Autosomaal dominante spastische paraplegie type 73 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 73 | |
| pl | Autosomalna dominująca paraplegia spastyczna typu 73 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 73 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 73 | = en |
| zh | 常染色体显性遗传性痉挛性截瘫73型 | = en |
| tr | Otozomal dominant spastik parapleji tip 73 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616282 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | attributed | validated |
| MONDO | 0014568 | E | validated | |
| UMLS | C5568981 | 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 |
|---|---|---|---|---|---|---|---|---|
| CPT1C | Disease-causing germline mutation(s) in | Assessed | HGNC:18540 | ENSG00000169169 | 608846 | 19q13.33 | carnitine palmitoyltransferase 1C | 25751282[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 25751282[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25751282[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
19 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:0002061 | Lower limb spasticity | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0002064 | Spastic gait | |
| Frequent (79-30%) | ||
| HP:0012898 | Abnormal lower-limb motor evoked potentials | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0003457 | EMG abnormality | |
| HP:0001288 | Gait disturbance | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0007199 | Progressive spastic paraparesis | |
| HP:0000020 | Urinary incontinence | |
| HP:0000012 | Urinary urgency | |
| Occasional (29-5%) | ||
| HP:0001761 | Pes cavus | |
| Excluded (0%) | ||
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0000726 | Dementia | |
| HP:0001250 | Seizure | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25751282[PMID]_23973755[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/444099
- This record as JSON: /data/d/444099.json