ORPHA:77295
Odontoleukodystrophy
Synonyms: Dentoleukoencephalopathy · Leukodystrophy with oligodontia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
This disease is described under 4H leukodystrophy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Odontoleukodystrophy | Dentoleukoencephalopathy · Leukodystrophy with oligodontia |
| fr | Odontoleucodystrophie | Dento-leuco-encéphalopathie · Syndrome de leucodystrophie-oligodontie |
| de | Odontoleukodystrophie | Dento-Leukoenzephalopathie · Dentoleukoenzephalopathie · Leukodystrophie mit Oligodontie |
| es | Odontoleucodistrofia | Leucodistrofia con oligodontia |
| it | Odontoleucodistrofia | Dentoleucoencefalopatia · Leucodistrofia con oligodontia |
| nl | Odontoleukodystrofie | Dentoleuko-encefalopathie · Leukodystrofie met oligodontie |
| pt | Leucodistrofia com oligodontia | Dento-leucoencefalopatia |
| pl | Leukodystrofia z oligodoncją | Dentoleukoencefalopatia · Leukodystrofia z oligodoncją |
| cs | Odontoleukodystrofie | Dentoleukoencefalopatie · Leukodystrofie s oligodoncií |
| uk | Одонтолейкодистрофія | Дентолейкоенцефалопатія · Лейкодистрофія з олігодонтією |
| zh | 牙脑白质营养不良症 | 脑白质营养不良症伴少牙畸形 |
| tr | Odontolökodistrofi | Dentolökoensefalopati · Oligodonti ile seyreden lökodistrofi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607694 | NTBT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44 | NTBT | attributed | validated |
| MONDO | 0019177 | E | validated | |
| MeSH | C564344 | E | validated | |
| UMLS | C3502054 | E | validated | |
| GARD | 9632 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2894944H leukodystrophy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLR3A | Disease-causing germline mutation(s) in | Assessed | HGNC:30074 | ENSG00000148606 | 614258 | 10q22.3 | RNA polymerase III subunit A | 21855841[PMID]_22855961[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12605447[PMID] |
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 12605447[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.
6
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/77295
- This record as JSON: /data/d/77295.json