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Hereditary steroid-resistant nephrotic…

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Hereditary steroid-resistant nephrotic syndrome

ORPHA:656Disease

Also called Familial idiopathic steroid-resistant nephrotic syndrome · Genetic FSGS · Genetic SRNS · Hereditary SRNS · Isolated SRNS · Monogenic SRNS

What it is

A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course.

Key facts

Age of onset
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Disease

Signs and symptoms

Always100%

1

Very common80–99%

1

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ACTN4Disease-causing germline mutation(s)
ANKFY1Disease-causing germline mutation(s)
ANLNDisease-causing germline mutation(s)
APOL1Major susceptibility factor
ARHGAP24Disease-causing germline mutation(s) (loss of function)
ARHGDIADisease-causing germline mutation(s) (loss of function)
AVILDisease-causing germline mutation(s)
CD2APDisease-causing germline mutation(s)
COQ8BDisease-causing germline mutation(s) (loss of function)
CRB2Disease-causing germline mutation(s) (loss of function)
DAAM2Disease-causing germline mutation(s)
EMP2Disease-causing germline mutation(s) (loss of function)
GAPVD1Disease-causing germline mutation(s)
INF2Disease-causing germline mutation(s)
KANK2Disease-causing germline mutation(s)
LAMA5Disease-causing germline mutation(s)
MAGI2Disease-causing germline mutation(s)
MYO1EDisease-causing germline mutation(s)
NPHS1Disease-causing germline mutation(s)
NPHS2Disease-causing germline mutation(s)
NUP107Disease-causing germline mutation(s)
NUP133Disease-causing germline mutation(s)
NUP160Disease-causing germline mutation(s)
NUP205Disease-causing germline mutation(s)
NUP37Disease-causing germline mutation(s)
NUP85Disease-causing germline mutation(s)
NUP93Disease-causing germline mutation(s) (loss of function)
PAX2Disease-causing germline mutation(s) (loss of function)
PLCE1Disease-causing germline mutation(s)
PTPRODisease-causing germline mutation(s)
TBC1D8BDisease-causing germline mutation(s) (loss of function)
TRPC6Disease-causing germline mutation(s) (gain of function)
WT1Disease-causing germline mutation(s)

1 modifying gene — variants that can change how the disease behaves, not cause it

COL4A3

ICD-10 codes

N04.1ICD-10 uses a narrower term — shared with 4 other rare diseases
N04.3ICD-10 uses a narrower term — shared with 1 other rare disease
N04.8ICD-10 uses a narrower term — shared with 7 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

GARD 3946MONDO 0019006OMIM 256370OMIM 301028OMIM 600995OMIM 603278OMIM 603965OMIM 607832OMIM 610725OMIM 612551OMIM 613237OMIM 614131OMIM 614196OMIM 615244OMIM 615573OMIM 615861OMIM 616002OMIM 616032OMIM 616220OMIM 616730OMIM 616892OMIM 616893OMIM 617609OMIM 617783OMIM 618176OMIM 618177OMIM 618178OMIM 618594OMIM 619155OMIM 619201OMIM 619263OMIM 620049UMLS C4273714

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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