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Items: 16

1.

Segmental glomerulosclerosis

MedGen UID:
83080
Concept ID:
C0333497
Disease or Syndrome
2.

Nephroblastoma

A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN. [from MeSH]

MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
3.

Glomerulonephritis

A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. [from NCI]

MedGen UID:
6616
Concept ID:
C0017658
Disease or Syndrome
4.

Wilms Tumor

MedGen UID:
893580
Concept ID:
CN239467
Disease or Syndrome
5.

Glomerular disease

MedGen UID:
831230
Concept ID:
CN206629
Disease or Syndrome
6.

Nephroblastoma

The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. [from HPO]

MedGen UID:
505324
Concept ID:
CN002424
Finding
7.

Membranoproliferative glomerulonephritis

Proliferation of mesangial cells, increase in the mesangial extracellular matrix, and a thickening of the glomerular capillary walls. [from HPO]

MedGen UID:
504601
Concept ID:
CN000741
Finding
8.

Glomerulopathy

Chronic degenerative changes in the glomeruli characterized by loss of cellularity of glomerular capillary tufts and acellular deposition of immunoglobulins. [from NCI]

MedGen UID:
451033
Concept ID:
C0268731
Disease or Syndrome
9.

Focal segmental glomerulosclerosis

MedGen UID:
449387
Concept ID:
CN043606
Disease or Syndrome
10.

Wilms tumor 1

Aniridia is characterized by complete or partial iris hypoplasia usually (but not always) with associated foveal hypoplasia resulting in reduced visual acuity and nystagmus presenting in early infancy. Frequently associated ocular abnormalities (often of later onset) include cataract, glaucoma, and corneal opacification and vascularization. Aniridia may occur either as an isolated ocular abnormality without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region controlling its expression, or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and the adjacent WT1 (Wilms tumor) locus. Individuals with deletion of PAX6 and WT1 are at up to a 50% risk of developing Wilms tumor. [from GTR]

MedGen UID:
447509
Concept ID:
CN033288
Disease or Syndrome
11.

Focal segmental glomerulosclerosis

MedGen UID:
376918
Concept ID:
C1850973
12.

Secondary Focal Segmental Glomerulosclerosis

MedGen UID:
354165
Concept ID:
C1710040
Disease or Syndrome
13.

Focal

Area of greatest concentration, attention, or activity; a central point or locus, especially of an infection. [from NCI]

MedGen UID:
61391
Concept ID:
C0205234
Spatial Concept
14.

Glomerulosclerosis

A hardening of the kidney glomerulus caused by scarring of the blood vessels. [from NCI]

MedGen UID:
61248
Concept ID:
C0178664
Disease or Syndrome
15.

Mesangiocapillary glomerulonephritis

Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN. [from MeSH]

MedGen UID:
9033
Concept ID:
C0017662
Disease or Syndrome
16.

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 GTR]

MedGen UID:
4904
Concept ID:
C0017668
Disease or Syndrome
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