Noonan syndrome and Noonan-related syndrome
General Information (adopted from Orphanet):
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| Number of Symptoms | 0 |
| OrphanetNr: | 98733 |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic malformation syndrome with short stature
-Rare genetic disease Malformation syndrome with short stature -Rare developmental defect during embryogenesis Syndrome associated with hypertrophic cardiomyopathy -Rare cardiac disease -Rare genetic disease |
Comment:
| This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. |
Symptom Information:
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| MAP2K1 | rs397516790 | pathogenic | RCV000037591.2 |
| MAP2K1 | rs727504317 | pathogenic | RCV000154397.1 |
| MAP2K2 | rs121434499 | likely pathogenic | RCV000008763.4 |
| MAP2K2 | rs727504370 | likely pathogenic | RCV000154507.1 |
| MAP2K2 | rs727504382 | likely pathogenic | RCV000154541.1 |