PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 13 |
OrphanetNr: | |
OMIM Id: |
265400
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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: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0003388) | Easy fatigability | 34 / 7739 | ||||
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(HPO:0012378) | Fatigue | 50 / 7739 | ||||
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(HPO:0001681) | Angina pectoris | 22 / 7739 | ||||
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(HPO:0002092) | Pulmonary hypertension | 109 / 7739 | ||||
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(HPO:0001708) | Right ventricular failure | 11 / 7739 | ||||
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(HPO:0001667) | Right ventricular hypertrophy | 23 / 7739 | ||||
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(HPO:0001279) | Syncope | 94 / 7739 | ||||
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(HPO:0002875) | Exertional dyspnea | 29 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(OMIM) | Enlarged pulmonary arteries | 1 / 7739 | ||||
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(OMIM) | Substernal oppression | 1 / 7739 | ||||
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(OMIM) | Accentuated pulmonary valve closure | 1 / 7739 | ||||
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(OMIM) | Gallop rhythm | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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