Nephrotic Syndrome, Type 9

Alternative Names

  • NPHS9

Associated Genes

Coenzyme Q8B
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WHO-ICD-10 version:2010

Diseases of the genitourinary system

Glomerular diseases

OMIM Number

615573

Mode of Inheritance

Autosomal recessive

Gene Map Locus

19q13.2

Description

Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615573.1.1ArabFemaleYesYes Focal segmental glomerulosclerosis; Enu...NM_024876.4:c.293T>GHomozygousAutosomal, RecessiveKorkmaz et al, 2016
615573.1.2ArabMaleYesYes Edema; Focal segmental glomeruloscleros...NM_024876.4:c.293T>GHomozygousAutosomal, RecessiveKorkmaz et al, 2016 Brother of 615573.1....
615573.2.1ArabMaleYesYes Hypertension; Polyuria; Polydipsia; ...NM_024876.4:c.532C>THomozygousAutosomal, RecessiveKorkmaz et al, 2016
615573.2.2ArabMaleYesYes Edema; Hypertension; Focal segmental g...NM_024876.4:c.532C>THomozygousAutosomal, RecessiveKorkmaz et al, 2016 Brother of 615573.2....
615573.3.1ArabFemaleYesYes Edema; Focal segmental glomeruloscleros...NM_024876.4:c.293T>GHomozygousAutosomal, RecessiveKorkmaz et al, 2016
615573.3.2ArabFemaleYesYesNM_024876.4:c.293T>GHomozygousAutosomal, RecessiveKorkmaz et al, 2016 Sister of 615573.3.1
615573.4.1ArabMaleYesYes Hypertension; Headache; Focal segme...NM_024876.4:c.748G>AHomozygousAutosomal, RecessiveKorkmaz et al, 2016
615573.4.2ArabFemaleYesYes Edema; Hypertension; Headache; F...NM_024876.4:c.748G>AHomozygousAutosomal, RecessiveKorkmaz et al, 2016 Sister of 615573.4.1
615573.5.1ArabMale Edema; Hypertension; Focal segmental...NM_024876.4:c.645delHomozygousAutosomal, RecessiveKorkmaz et al, 2016
615573.6ArabMale Edema; Focal segmental glomerulosclero...NM_024876.4:c.1199dupHomozygousAutosomal, RecessiveKorkmaz et al, 2016
615573.7.1ArabFemale Edema; Focal segmental glomeruloscler...NM_024876.4:c.929C>THomozygousAutosomal, RecessiveKorkmaz et al, 2016
615573.8.1ArabMale Edema; Fatigue; Focal segmental glomer...NM_024876.4:c.645delHomozygousAutosomal, RecessiveKorkmaz et al, 2016
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