ORPHA:137639
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Synonyms: Ataxia-delayed dentition-hypomyelination syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under 4H leukodystrophy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome | Ataxia-delayed dentition-hypomyelination syndrome |
| fr | Syndrome de leucoencéphalopathie-ataxie-hypodontie-hypomyélinisation | Syndrome d'ataxie-retard de dentition-hypomyélinisation |
| de | Leukoenzephalopathie-Ataxie-Hypodontie-Hypomyelinisierung-Syndrom | Ataxie - verzögerter Zahndurchbruch - Hypomyelinisierung |
| es | Síndrome de leucodistrofia-hipodoncia-ataxia-hipomielinización | Ataxia-retraso en la dentición-hipomielinización |
| it | Sindrome da leucodistrofia ipomielinizzante, atassia, ipodontia e ipomielinizzazione | Atassia - ritardo della dentizione - ipomielinizzazione |
| nl | Hypomyeliniserende leukodystrofie - ataxie - hypodontie - hypomyelinisatie-syndroom | Ataxie - vertraagde dentitie - hypomyelinisatie-syndroom |
| pt | Síndrome de leucodistrofia hipomielinizante-ataxia-hipodontia-hipomielinização | |
| pl | Zespół leukoencefalopatii, ataksji, hipodoncji i hipomielinizacji | Ataksja - opóźnione wyrzynanie zębów - hipomielinizacja |
| cs | Syndrom zahrnující leukoencefalopatii, ataxii, hypodoncii a hypomyelinizaci | Syndrom zahrnující ataxii, opožděnou dentici a hypomyelinizaci |
| uk | Синдром гіпомієлінізуючої лейкодистрофії-атаксії-гіподонтії-гіпомієлінізації | Синдром затримки прорізування зубів-гіпомієлінізації з атаксією |
| zh | 髓鞘形成不足脑白质营养不良-共济失调-牙发育不良-髓鞘形成不足综合征 | 共济失调-牙发育不良-髓鞘减少综合征 |
| tr | Hipomiyelinizan lökodistrofi-ataksi-hipodonti-hipomiyelinasyon sendromu | Ataksi-gecikmeli dentisyon-hipomiyelinasyon sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607694 | NTBT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| MONDO | 0011897 | E | validated | |
| UMLS | C4706676 | 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.
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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 | 27506977[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 15851747[PMID]_17712733[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15851747[PMID]_17712733[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.
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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/137639
- This record as JSON: /data/d/137639.json