Beckwith-Wiedemann syndrome due to NSD1 mutation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 22 |
| OrphanetNr: | 238613 |
| 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: | 2 cases - PMID: 14997421 [IBIS] |
| Inheritance: |
Autosomal dominant - PMID: 14997421 [IBIS] |
| Age of onset: |
Antenatal Neonatal - PMID: 14997421 [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 |
Symptom Information:
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(HPO:0000508) | Ptosis | 14997421 | IBIS | 459 / 7739 | ||
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(HPO:0001520) | Large for gestational age | 14997421 | IBIS | 34 / 7739 | ||
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(HPO:0001998) | Neonatal hypoglycemia | 14997421 | IBIS | 22 / 7739 | ||
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(HPO:0000825) | Hyperinsulinemic hypoglycemia | 14997421 | IBIS | 18 / 7739 | ||
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(HPO:0009023) | Abdominal wall muscle weakness | 14997421 | IBIS | 12 / 7739 | ||
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(HPO:0011343) | Moderate global developmental delay | 14997421 | IBIS | 5 / 7739 | ||
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(HPO:0006191) | Deep palmar crease | 14997421 | IBIS | 16 / 7739 | ||
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(HPO:0001528) | Hemihypertrophy | 14997421 | IBIS | 13 / 7739 | ||
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(HPO:0000268) | Dolichocephaly | 14997421 | IBIS | 144 / 7739 | ||
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(HPO:0001357) | Plagiocephaly | 14997421 | IBIS | 106 / 7739 | ||
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(HPO:0001363) | Craniosynostosis | 14997421 | IBIS | 132 / 7739 | ||
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(HPO:0002650) | Scoliosis | 14997421 | IBIS | 705 / 7739 | ||
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(HPO:0001808) | Fragile nails | 14997421 | IBIS | 21 / 7739 | ||
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(HPO:0009553) | Abnormality of the hairline | 14997421 | IBIS | 30 / 7739 | ||
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(HPO:0001814) | Deep-set nails | 14997421 | IBIS | 4 / 7739 | ||
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(HPO:0001537) | Umbilical hernia | 14997421 | IBIS | 206 / 7739 | ||
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(HPO:0008050) | Abnormality of the palpebral fissures | 14997421 | IBIS | 3 / 7739 | ||
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(HPO:0000286) | Epicanthus | 14997421 | IBIS | 371 / 7739 | ||
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(HPO:0000400) | Macrotia | 14997421 | IBIS | 108 / 7739 | ||
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(HPO:0000076) | Vesicoureteral reflux | 14997421 | IBIS | 94 / 7739 | ||
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(HPO:0005562) | Multiple renal cysts | 14997421 | IBIS | 16 / 7739 | ||
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(HPO:0001548) | Overgrowth | 14997421 | IBIS | 27 / 7739 |
Associated genes:
| NSD1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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