Beckwith-Wiedemann syndrome due to 11p15 microduplication
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 11 |
| OrphanetNr: | 96076 |
| OMIM Id: |
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| ICD-10: |
Q87.3 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
Antenatal Neonatal 21920939 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Beckwith-Wiedemann syndrome
-Rare cardiac disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare oncologic disease -Rare otorhinolaryngologic disease -Rare renal disease Partial duplication of the short arm of chromosome 11 -Rare developmental defect during embryogenesis -Rare genetic disease |
Comment:
| A cluster of imprinted genes at chromosome 11p15.5 is associated with the growth disorders, Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS). The cluster is divided into two domains with independent imprinting control regions (ICRs). A maternal 11p15.5 microduplication, a 160 kb duplication inverted and in cis, resulting in the imprinting alteration of the centromeric domain. It includes the centromeric ICR (ICR2) and the most 5' 20 kb of the non-coding KCNQ1OT1 gene. Its maternal transmission is associated with ICR2 hypomethylation and the BWS phenotype. In the individuals maternally inheriting the 160 kb duplication, ICR2 hypomethylation led to the expression of a truncated KCNQ1OT1 transcript and to down-regulation of CDKN1C (PMID:21920939). |
Symptom Information:
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(HPO:0001520) | Large for gestational age | 21920939 | IBIS | 34 / 7739 | ||
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(HPO:0001643) | Patent ductus arteriosus | 21920939 | IBIS | 228 / 7739 | ||
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(HPO:0000158) | Macroglossia | 21920939 | IBIS | 119 / 7739 | ||
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(HPO:0001162) | Postaxial hand polydactyly | 21920939 | IBIS | 119 / 7739 | ||
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(HPO:0000303) | Mandibular prognathia | 21920939 | IBIS | 179 / 7739 | ||
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(HPO:0001537) | Umbilical hernia | 21920939 | IBIS | 206 / 7739 | ||
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(HPO:0001539) | Omphalocele | 21920939 | IBIS | 102 / 7739 | ||
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(HPO:0005280) | Depressed nasal bridge | 21920939 | IBIS | 381 / 7739 | ||
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(HPO:0000356) | Abnormality of the outer ear | 21920939 | IBIS | 85 / 7739 | ||
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(HPO:0009908) | Anterior creases of earlobe | 21920939 | IBIS | 10 / 7739 | ||
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(HPO:0001052) | Nevus flammeus | 21920939 | IBIS | 88 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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