Neurofibromatosis - Noonan syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 18 |
| OrphanetNr: | 638 |
| OMIM Id: |
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| ICD-10: |
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| 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: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic hyperpigmentation of the skin
-Rare genetic disease Hyperpigmentation of the skin -Rare skin disease Malformation syndrome with hamartosis -Rare developmental defect during embryogenesis -Rare genetic disease Rare skin tumor or hamartoma -Rare oncologic disease -Rare skin disease |
Symptom Information:
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000271) | Abnormality of the face | Very frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0000465) | Webbed neck | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0011039) | Abnormality of the helix | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0002015) | Dysphagia | Frequent [Orphanet] | 301 / 7739 | |||
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(HPO:0000765) | Abnormality of the thorax | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0010318) | Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000957) | Cafe-au-lait spot | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0001638) | Cardiomyopathy | Very frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0001641) | Abnormality of the pulmonary valve | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0003010) | Prolonged bleeding time | Frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0100763) | Abnormality of the lymphatic system | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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