Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 11

1.

Glomerulopathy

Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. [from HPO]

MedGen UID:
506545
Concept ID:
CN117710
Finding
2.

Immunodeficiency

MedGen UID:
505335
Concept ID:
CN002471
Finding
3.

Glomerulosclerosis

Accumulation of scar tissue within the glomerulus. [from HPO]

MedGen UID:
504338
Concept ID:
CN000096
Finding
4.

Focal segmental glomerulosclerosis

MedGen UID:
449387
Concept ID:
CN043606
Disease or Syndrome
5.

Focal segmental glomerulosclerosis

MedGen UID:
376918
Concept ID:
C1850973
Finding
6.

Focal segmental glomerulosclerosis 1

Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998). D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte. Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome Focal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (603965), caused by mutation in the TRPC6 gene (603652); FSGS3 (607832), associated with variation in the CD2AP gene (604241); FSGS4 (612551), mapped to chromosome 22q12; FSGS5 (613237), caused by mutation in the INF2 gene (610982); FSGS6 (614131), caused by mutation in the MYO1E gene (601479); FSGS7 (616002), caused by mutation in the PAX2 gene (167409); FSGS8 (616032), caused by mutation in the ANLN gene (616027); and FSGS9 (616220), caused by mutation in the CRB2 gene (609720). See also NPHS1 (256300), caused by mutation in the NPHS1 gene (602716); NPHS2 (600995), caused by mutation in the podocin gene (604766); NPHS3 (610725), caused by mutation in the PLCE1 gene (608414); and NPHS4 (256370), caused by mutation in the WT1 gene (607102). [from OMIM]

MedGen UID:
4904
Concept ID:
C0017668
Disease or Syndrome
7.

Abnormality of the kidney

An abnormality of the kidney. [from HPO]

MedGen UID:
427390
Concept ID:
CN000077
Finding
8.

Hiv

An infection caused by the human immunodeficiency virus. [from NCI]

MedGen UID:
5583
Concept ID:
C0019693
Disease or Syndrome
9.

Focal segmental glomerulosclerosis 9

MedGen UID:
830778
Concept ID:
CN225927
Disease or Syndrome
10.

Focal segmental glomerulosclerosis 8

MedGen UID:
807524
Concept ID:
CN219578
Disease or Syndrome
11.

Focal segmental glomerulosclerosis 2

Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by Meyrier, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), see FSGS1 (603278). [from OMIM]

MedGen UID:
349053
Concept ID:
C1858915
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center