Skip to main content

RareConnect.ioRare Intelligence

Explore Data Discover Patient Groups News Partner

Sign In Sign Up

Explore Data Patient Groups News Partner

RareConnect.ioRare Intelligence

Combining the speed of AI with the wisdom of the community to build the world's most accurate disease registry.

Explore

Disease Directory
Patient Groups
News
FAQ
MONDO Ontology ↗

Get Involved

Partner with Us
Register Your PAG
Community
Pricing

Legal

Privacy Policy
Terms of Service
Accessibility
Contact Us

© 2025 RareConnect.io. Powered by MONDO Ontology

focal segmental glomerulosclerosis 1 | RareConnect | RareConnect.io

/inherited focal segmental glomerulosclerosis

/familial idiopathic steroid-resistant nephrotic syndrome

/focal segmental glomerulosclerosis 1

focal segmental glomerulosclerosis 1

Rare Disease

MONDO:0011303

Also Known As

ACTN4 focal segmental glomerulosclerosisFSGS1familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosisfocal segmental glomerulosclerosis 1focal segmental glomerulosclerosis caused by mutation in ACTN4focal segmental glomerulosclerosis type 1familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosisglomerulosclerosis, focal segmental, 1

Definition

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:603278 ↗

Orphanet

Orphanet:93213 ↗

GARD

Related Diseases

HIV-associated nephropathy

MONDO:0005798

nephrotic syndrome, type 2

MONDO:0010974

focal segmental glomerulosclerosis 2

MONDO:0011390

nephrotic syndrome, type 3

MONDO:0012546

focal segmental glomerulosclerosis 5

MONDO:0013191

focal segmental glomerulosclerosis 6

MONDO:0013589

← Back to All Diseases