ORPHA:231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
This disease is described under Beckwith-Wiedemann syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beckwith-Wiedemann syndrome due to 11p15 microdeletion | |
| fr | Syndrome de Beckwith-Wiedemann dû à une microdélétion 11p15 | |
| de | Beckwith-Wiedemann-Syndrom durch Mikrodeletion 11p15 | |
| es | Síndrome de Beckwith-Wiedemann por microdeleción 11p15 | |
| it | Sindrome di Beckwith-Wiedemann da microdelezione 11p15 | |
| nl | Syndroom van Beckwith-Wiedemann door 11p15-microdeletie | |
| pt | Síndrome de Beckwith-Wiedemann por microdeleção 11q15 | |
| pl | Zespół Beckwitha i Wiedemanna z powodu mikrodelecji 11p15 | |
| cs | Beckwithův-Wiedemannův syndrom způsobený mikrodelecí 11p15 | Beckwith-Wiedemannův syndrom způsobený mikrodelecí 11p15 |
| uk | Синдром Беквіта-Відемана, зумовлений мікроделецією 11p15 | |
| zh | 11p15微缺失所致Beckwith-Wiedemann综合征 | |
| tr | 11p15 mikrodelesyonuna bağlı Beckwith-Wiedemann sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0016477 | E | validated | |
| UMLS | C5680919 | 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 (2):
- ORPHA:116Beckwith-Wiedemann syndrome
rare cardiac diseases; rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare otorhinolaryngological diseases; rare neoplastic diseases; rare surgical maxillo-facial diseases; rare transplant-related disorders - ORPHA:261947Partial deletion of the short arm of chromosome 11 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| H19 | Role in the phenotype of | Assessed | HGNC:4713 | ENSG00000130600 | 103280 | 11p15.5 | H19 imprinted maternally expressed transcript | 15314640[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/231127
- This record as JSON: /data/d/231127.json