Multinodular goiter - cystic kidney - polydactyly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MULTINODULAR GOITER/CYSTIC RENAL DISEASE/DIGITAL ANOMALIES MNG/CRD/DA Daneman-Davy-Mancer syndrome Thyroid-renal-digital anomalies |
| Number of Symptoms | 8 |
| OrphanetNr: | 2091 |
| OMIM Id: |
138790
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| ICD-10: |
Q87.8 |
| 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: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0001162) | Postaxial hand polydactyly | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0001841) | Preaxial foot polydactyly | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0005707) | Bilateral triphalangeal thumbs | 5 / 7739 | ||||
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(HPO:0001199) | Triphalangeal thumb | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000853) | Goiter | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0005987) | Multinodular goiter | 3 / 7739 | ||||
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(HPO:0000107) | Renal cyst | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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