Inherited congenital spastic tetraplegia
Synonyms: Inherited congenital spastic quadriplegia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inherited congenital spastic tetraplegia | Inherited congenital spastic quadriplegia |
| fr | Tétraplégie spastique congénitale héréditaire | Quadriplégie spastique congénitale héréditaire |
| de | Spastische Tetraplegie, kongenitale | Quadriplegie, hereditäre spastische |
| es | Tetraplejía espástica congénita hereditaria | |
| it | Tetraplegia spastica congenita ereditaria | Quadriplegia spastica congenita ereditaria |
| nl | Erfelijke congenitale spastische tetraplegie | Erfelijke congenitale spastische quadriplegie |
| pt | Tetraparésia espastica congénita | |
| pl | Dziedziczna wrodzona tetraplegia spastyczna | Dziedziczna wrodzona kwadriplegia spastyczna |
| cs | Dědičná vrozená spastická tetraplegie | Spastická kvadruplegická mozková obrna · Dědičná vrozená spastická kvadruplegie |
| uk | Спадкова вроджена спастична тетраплегія | Спадкова вроджена спастична квадриплегія |
| zh | 遗传性先天性痉挛性四肢瘫 | 遗传性先天性痉挛性四肢瘫 |
| tr | Kalıtsal doğumsal spastik tetrapleji | Kalıtsal doğumsal spastik kuadripleji |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612900 | BTNT | validated | |
| OMIM | 617008 | BTNT | validated | |
| ICD-10 | G82.4 | NTBT | attributed | validated |
| ICD-11 | MB50.1 | NTBT | attributed | validated |
| MONDO | 16215 | E | validated | |
| UMLS | C5190693 | 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:71859Rare genetic neurological disorder
rare genetic diseases - ORPHA:98006Rare neurologic disease
rare neurological diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADD3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:245 | ENSG00000148700 | 601568 | 10q25.1-q25.2 | adducin 3 | 23836506[PMID] |
| GAD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4092 | ENSG00000128683 | 605363 | 2q31.1 | glutamate decarboxylase 1 | 15571623[PMID] |
| KANK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19309 | ENSG00000107104 | 607704 | 9p24.3 | KN motif and ankyrin repeat domains 1 | 16301218[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 16301218[PMID]_23836506[PMID]_9084927[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16301218[PMID]_23836506[PMID]_9084927[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/210141
- This record as JSON: /data/d/210141.json