DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERALVASCULATURE
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 12 |
OrphanetNr: | |
OMIM Id: |
126320
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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 inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0009743) | Distichiasis | 9 / 7739 | ||||
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(HPO:0002619) | Varicose veins | 11 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | 316 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 | ||||
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(HPO:0001643) | Patent ductus arteriosus | 228 / 7739 | ||||
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(HPO:0005794) | Arterial disease of legs | 1 / 7739 | ||||
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(HPO:0001688) | Sinus bradycardia | 18 / 7739 | ||||
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(HPO:0010741) | Edema of the lower limbs | 34 / 7739 | ||||
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(OMIM) | Wandering atrial pacemaker | 1 / 7739 | ||||
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(OMIM) | Stress-induced asystole | 1 / 7739 | ||||
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(OMIM) | Double rows of eyelashes | 2 / 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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