U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Glomerulopathy with fibronectin deposits 1(GFND1)

MedGen UID:
98017
•Concept ID:
C0403557
•
Disease or Syndrome
Synonyms: Familial lobular glomerulopathy; GFND1; Glomerulopathy with giant fibrillar deposits
SNOMED CT: Glomerulopathy with fibronectin deposits 1 (236535001); Glomerulopathy with giant fibrillar deposits (236535001)
 
Monarch Initiative: MONDO:0024527
OMIM®: 137950

Definition

Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; 135600) (Castelletti et al., 2008). Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits The GFND1 locus maps to chromosome 1q32. See also GFND2 (601894), which is caused by mutation in the FN1 gene (135600) on chromosome 2q35. [from OMIM]

Clinical features

From HPO
Kidney disorder
MedGen UID:
9635
•Concept ID:
C0022658
•
Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
See: Feature record | Search on this feature
Nephrotic syndrome
MedGen UID:
10308
•Concept ID:
C0027726
•
Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
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
Microscopic hematuria
MedGen UID:
65997
•Concept ID:
C0239937
•
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
See: Feature record | Search on this feature
Glomerulopathy
MedGen UID:
451033
•Concept ID:
C0268731
•
Disease or Syndrome
Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
See: Feature record | Search on this feature
Renal insufficiency
MedGen UID:
332529
•Concept ID:
C1565489
•
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
See: Feature record | Search on this feature
Stage 5 chronic kidney disease
MedGen UID:
384526
•Concept ID:
C2316810
•
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
See: Feature record | Search on this feature
Glomerular fibronectin deposits
MedGen UID:
1053127
•Concept ID:
CN377024
•
Finding
Accumulation of fibronectin in the glomerulus.
See: Feature record | Search on this feature
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Acidosis
MedGen UID:
1296
•Concept ID:
C0001122
•
Pathologic Function
Abnormal acid accumulation or depletion of base.
See: Feature record | Search on this feature
Show allHide all

Recent clinical studies

Etiology

Fibrillary glomerulonephritis associated with limited scleroderma: a case report.
Nakhoul GN, Simon JF
Clin Nephrol 2016 Apr;85(4):235-7. doi: 10.5414/CN108723. PMID: 26709524

Diagnosis

Fibrillary glomerulonephritis associated with limited scleroderma: a case report.
Nakhoul GN, Simon JF
Clin Nephrol 2016 Apr;85(4):235-7. doi: 10.5414/CN108723. PMID: 26709524

Prognosis

Fibrillary glomerulonephritis associated with limited scleroderma: a case report.
Nakhoul GN, Simon JF
Clin Nephrol 2016 Apr;85(4):235-7. doi: 10.5414/CN108723. PMID: 26709524

Clinical prediction guides

Familial glomerulopathy with giant fibrillar deposits.
Bürgin M, Hofmann E, Reutter FW, Gürtler BA, Matter L, Briner J, Gloor F
Virchows Arch A Pathol Anat Histol 1980;388(3):313-26. doi: 10.1007/BF00430861. PMID: 7001730

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...