ORPHA:447893
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
This disease is described under 4H leukodystrophy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome | |
| fr | Syndrome d'hypomyélinisation cérébrale diffuse-atrophie du cervelet-hypoplasie du corps calleux | |
| de | Hypomyelinisierung-zerebelläre Atrophie-Corpus callosum-Hypoplasie-Syndrom | |
| es | Síndrome de hipomielinización-atrofia cerebelosa-hipoplasia del cuerpo calloso | |
| it | Sindrome ipomielinizzazione-atrofia cerebellare-ipoplasia del corpo calloso | |
| nl | Hypomyelinisatie - cerebellaire atrofie - hypoplasie van corpus callosum-syndroom | |
| pt | Síndrome de hipomielinização-atrofia cerebelosa-hipoplasia do corpo caloso | |
| pl | Zespół hipomielinizacji, atrofii móżdżku i hipoplazji ciała modzelowatego | |
| cs | Syndrom zahrnující hypomyelinizaci, mozečkovou atrofii a hypoplázii corpus callosum | |
| uk | Синдром гіпомієлінізації-атрофії мозочка-гіпоплазії мозолистого тіла | |
| zh | 胼胝体小脑发育不良伴髓鞘化落后 | |
| tr | Korpus kallozum sendromunun hipomiyelinizasyon-serebellar atrofi-hipoplazi |
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 | 0018655 | E | validated | |
| UMLS | C5681201 | E | 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 (3):
- ORPHA:2894944H leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; 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 | 22036171[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 18851904[PMID]_22036171[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18851904[PMID]_22036171[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/447893
- This record as JSON: /data/d/447893.json