ORPHA:694356
ADAR-related hereditary spastic paraplegia
Synonyms: ADAR1-related hereditary spastic paraplegia · Adenosine deaminase RNA specific-related hereditary spastic paraplegia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ADAR-related hereditary spastic paraplegia | ADAR1-related hereditary spastic paraplegia · Adenosine deaminase RNA specific-related hereditary spastic paraplegia |
| fr | Paraplégie spastique héréditaire associée à ADAR | Paraplégie spastique héréditaire associée au gène Adenosine deaminase RNA specific · Paraplégie spastique héréditaire associée à ADAR1 |
| de | Hereditäre spastische Paraplegie, ADAR-assoziierte | Hereditäre spastische Paraplegie, ADAR1-assoziierte |
| es | Paraplejía espástica hereditaria asociada a ADAR | Paraplejía espástica hereditaria asociada a ADAR1 · Paraplejía espástica hereditaria asociada a la adenosina desaminasa específica de ARN |
| it | Paraplegia spastica ereditaria correlata ad ADAR | Paraplegia spastica ereditaria associata al gene ADAR1 · Paraplegia spastica ereditaria associata all'adenosina deaminasi RNA-specifica · Paraplegia spastica ereditaria correlata ad ADAR1 |
| nl | ADAR-gerelateerde hereditaire spastische paraplegie | ADAR1-gerelateerde hereditaire spastische paraplegie · Adenosinedeaminase RNA-specifiek-gerelateerde hereditaire spastische paraplegie |
| pt | ADAR1-related hereditary spastic paraplegia | |
| pl | Dziedziczna paraplegia spastyczna związana z ADAR | = en |
| cs | ADAR-related hereditary spastic paraplegia | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | attributed | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:100980Autosomal dominant pure spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAR | Disease-causing germline mutation(s) in | Assessed | HGNC:225 | ENSG00000160710 | 146920 | 1q21.3 | adenosine deaminase RNA specific | 25243380[PMID]_25604658[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/694356
- This record as JSON: /data/d/694356.json