ORPHA:363965
Koolen-De Vries syndrome due to a point mutation
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Koolen-De Vries syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Koolen-De Vries syndrome due to a point mutation | |
| fr | Syndrome de Koolen-De Vries dû à une mutation ponctuelle | |
| de | Koolen-De Vries-Syndrom durch Punktmutation | |
| es | Síndrome de Koolen-De Vries por una mutación puntual | |
| it | Sindrome di Koolen-De Vries da mutazione puntiforme | |
| nl | Syndroom van Koolen-De Vries door puntmutatie | |
| pt | Síndrome Koolen-De-Vries por uma mutação pontual | |
| pl | Zespół Koolena i De Vries spowodowany mutacją punktową | |
| cs | Koolenův-De Vriesův syndrom způsobený bodovými mutacemi | Koolen-De Vriesův syndrom způsobený bodovými mutacemi |
| uk | Синдром Кулена-Де Вріса, зумовлений точковою мутацією | |
| zh | 点突变所致Koolen-De Vries综合征 | |
| tr | Nokta mutasyonu kaynaklı Koolen-De Vries sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610443 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | attributed | validated |
| MONDO | 0018217 | E | validated | |
| UMLS | C5680974 | 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:96169Koolen-De Vries syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KANSL1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24565 | ENSG00000120071 | 612452 | 17q21.31 | KAT8 regulatory NSL complex subunit 1 | 22544363[PMID]_22544367[PMID]_20301783[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 22544363[PMID]_22544367[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363965
- This record as JSON: /data/d/363965.json