Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Haemolytic anaemias
Autosomal recessive
17q22
Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615008.1.1 | Lebanon | Female | Yes | Yes | Membranoproliferative glomerulonephritis... Membranoproliferative glomerulonephritis; Nephrotic syndrome; Proteinuria  | NM_003647.2:c.889-2A>G | Homozygous | Autosomal, Recessive | Ozaltin et al. 2013 | |
| 615008.1.2 | Lebanon | Male | Yes | Yes | Membranoproliferative glomerulonephritis... Membranoproliferative glomerulonephritis; Nephrotic syndrome; Proteinuria | NM_003647.2:c.889-2A>G | Homozygous | Autosomal, Recessive | Ozaltin et al. 2013 | Brother of 615008.1.... |
| 615008.1.3 | Lebanon | Male | Yes | Yes | Membranoproliferative glomerulonephritis... Membranoproliferative glomerulonephritis; Nephrotic syndrome; Proteinuria | NM_003647.2:c.889-2A>G | Homozygous | Autosomal, Recessive | Ozaltin et al. 2013 | Brother of 615008.1.... |
| 615008.2.1 | United Arab Emirates | Male | Yes | Yes | Hypertension; Acute kidney injury; Hemol... Hypertension; Acute kidney injury; Hemolytic-uremic syndrome; Stage 5 chronic kidney disease; Abnormal left ventricular function | NM_003647.2:c.325A>G | Homozygous | Autosomal, Recessive | Azukaitis et al. 2017 | The patient had an a... |
| 615008.2.2 | United Arab Emirates | Male | Yes | Yes | Hypertension; Proteinuria; Hematuria; He... Hypertension; Proteinuria; Hematuria; Hemolytic-uremic syndrome; Stage 5 chronic kidney disease; Membranoproliferative glomerulonephritis; Congestive heart failure; Pulmonary edema | NM_003647.2:c.325A>G | Homozygous | Autosomal, Recessive | Azukaitis et al. 2017 | Brother of 615008.2.... |