615008.2.1

Country

United Arab Emirates

HPO Terms

Hypertension; Acute kidney injury; Hemolytic-uremic syndrome; Stage 5 chronic kidney disease; Abnormal left ventricular function
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003647.2:c.325A>G2

Remarks

The patient had an additional affected sibling who died in early childhood due to Hemolytic-uremic syndrome

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615008.2.2United Arab EmiratesHypertension; Proteinuria; Hematuria; Hemolytic-uremic syndrome; Stage 5 chronic kidney disease; Membranoproliferative glomerulonephritis; Congestive heart failure; Pulmonary edemaMaleYesYesBrother of 615008.2.1
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