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Nephrotic syndrome, type 19(NPHS19)

MedGen UID:
1648305
•Concept ID:
C4748552
•
Disease or Syndrome
Synonyms: NEPHROTIC SYNDROME, TYPE 19; NPHS19
 
Gene (location): NUP160 (11p11.2)
 
Monarch Initiative: MONDO:0032582
OMIM®: 618178

Definition

NPHS19, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (summary by Braun et al., 2018). [from OMIM]

Clinical features

From HPO
Focal segmental glomerulosclerosis
MedGen UID:
4904
•Concept ID:
C0017668
•
Disease or Syndrome
Segmental accumulation of scar tissue in individual (but not all) glomeruli.
See: Feature record | Search on this feature
Proteinuria
MedGen UID:
10976
•Concept ID:
C0033687
•
Finding
Increased levels of protein in the urine.
See: Feature record | Search on this feature
Steroid-resistant nephrotic syndrome
MedGen UID:
588369
•Concept ID:
C0403397
•
Disease or Syndrome
A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.
See: Feature record | Search on this feature
Stage 3 chronic kidney disease
MedGen UID:
389222
•Concept ID:
C2316787
•
Disease or Syndrome
A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).
See: Feature record | Search on this feature

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