Nephrogenic systemic fibrosis

Summary

Nephrogenic systemic fibrosis (MONDO:0015294) is a disease and 9 clinical trials. Top therapeutic interventions include gadodiamide, gadofosveset trisodium, and imatinib. A subtype of skin disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	nephrogenic systemic fibrosis
Mondo ID	MONDO:0015294
MeSH	D054989
Orphanet	137617
ICD-11	1537082562
NCIT	C84920
SNOMED CT	424114000
UMLS	C3888044
MedGen	854737
GARD	0009725
MedDRA	10067467
NORD	1498
Is cancer (heuristic)	no

Also known as: nephrogenic fibrosing dermopathy · NFD · NSF

Disease family

This is a subtype of skin disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › nephrogenic systemic fibrosis

Related subtypes (71): dermatitis, cutaneous mucinosis, skin neoplasm, pyoderma, chronic ulcer of skin, systemic sclerosis, sunburn, severe cutaneous adverse reaction, paronychia, Achenbach syndrome, erythema multiforme, erythematosquamous dermatosis, exanthem, facial dermatosis, hand dermatosis, keratosis, leg dermatosis, lichen disease, lipodystrophy, mongolian spot, reactive cutaneous fibrous lesion, rosacea, scalp dermatosis, sebaceous gland disorder, skin atrophy, skin sarcoidosis, sweat gland disorder, vesiculobullous skin disease, hyperglobulinemic purpura, ainhum, cheilitis glandularis, erythema palmare hereditarium, multiple benign circumferential skin creases on limbs, actinic prurigo, congenital lethal erythroderma, Parana hard-skin syndrome, Bazex-Dupre-Christol syndrome, erosive pustular dermatosis of the scalp, pseudoxanthoma elasticum-like papillary dermal elastolysis, toxic dermatosis, oral erosive lichen, chronic actinic dermatitis, Jessner lymphocytic infiltration of the skin, acquired kinky hair syndrome, primary cutaneous plasmacytosis, cutaneous pseudolymphoma, corticosteroid-sensitive aseptic abscess syndrome, interstitial granulomatous dermatitis with arthritis, epidermal disease, skin pigmentation disorder, skin vascular disease, Wells syndrome, solar urticaria, pellagra, hereditary epidermal appendage anomaly, keratosis pilaris, dermis disorder, aquagenic pruritus, Boudhina Yedes Khiari syndrome, non-neoplastic nevus, cutaneous sclerosis, pityriasis rotunda, hematohidrosis, skin disorder caused by infection, livedoid vasculopathy, prurigo nodularis, granuloma faciale, sclerema neonatorum, hereditary skin disorder, hand-foot syndrome, Nicolau syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE4	2
PHASE3	1
PHASE2/PHASE3	1
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01078987	PHASE4	TERMINATED	Plasmapheresis for Nephrogenic Fibrosing Dermopathy (NFD)/Nephrogenic Systemic Fibrosis (NSF)
NCT04776187	PHASE4	UNKNOWN	Safety Evaluation of Linear and Macrocyclic Gadolinium Based Contrast Agents for Patients With Mild to Moderate Renal Insufficiency Undergoing Enhanced Magnetic Resonance Imaging
NCT00981942	PHASE3	COMPLETED	Treatment of Patients With Nephrogenic Systemic Fibrosis With Glivec
NCT01359345	PHASE2/PHASE3	UNKNOWN	Nephrogenic Systemic Fibrosis With Gadollinum
NCT00677092	PHASE2	COMPLETED	Pilot Study of Imatinib Mesylate to Treat Nephrogenic Systemic Fibrosis
NCT00811863	Not specified	WITHDRAWN	Evaluation of Nephrogenic Systemic Fibrosis (NSF) in Patients With Chronic Kidney Disease Following OptiMARK Injection
NCT00869479	Not specified	COMPLETED	Validation of a Questionnaire to Identify Signs and Symptoms of Nephrogenic Systemic Fibrosis
NCT01014754	Not specified	COMPLETED	Nephrogenic Systemic Fibrosis (NSF): Analysis of Tissue Gadolinium Levels
NCT01135316	Not specified	COMPLETED	Prospective Evaluation of the Incidence of NSF in Patients With Kidney Disease Undergoing MR

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
GADODIAMIDE	4	1
GADOFOSVESET TRISODIUM	4	1
IMATINIB	4	1