Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 19

1.

Segregation analysis

MedGen UID:
880236
Concept ID:
CN235624
Finding
2.

Glomerulosclerosis

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

MedGen UID:
504338
Concept ID:
CN000096
Finding
3.

Focal segmental glomerulosclerosis

MedGen UID:
449387
Concept ID:
CN043606
Disease or Syndrome
4.

Renal insufficiency

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. [from HPO]

MedGen UID:
427392
Concept ID:
CN000083
Finding
5.

Focal segmental glomerulosclerosis

MedGen UID:
376918
Concept ID:
C1850973
Finding
6.

Glomerulosclerosis

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

MedGen UID:
61248
Concept ID:
C0178664
Disease or Syndrome
7.

Renal failure syndrome

Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure. If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
11177
Concept ID:
C0035078
Disease or Syndrome
8.

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
9.

Nephritis

The presence of inflammation affecting the kidney. [from HPO]

MedGen UID:
14328
Concept ID:
C0027697
Disease or Syndrome
10.

Proteinuria

Increased levels of protein in the urine. [from HPO]

MedGen UID:
10976
Concept ID:
C0033687
Finding; Finding
11.

Nephropathy

Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom. . Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include:. -Cancer. -Cysts. -Stones. -Infections. Your doctor can run tests to find out if you have kidney disease. If your kidneys fail completely, a kidney transplant or dialysis can replace the work your kidneys normally do. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
12.

Glomerulonephritis

Inflammation of the renal glomeruli. [from HPO]

MedGen UID:
6616
Concept ID:
C0017658
Disease or Syndrome
13.

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. [from ORDO]

MedGen UID:
891780
Concept ID:
CN205563
Disease or Syndrome
14.

Focal Segmental Glomerulosclerosis 10

MedGen UID:
833743
Concept ID:
CN230140
Disease or Syndrome
15.

Focal segmental glomerulosclerosis 7

Focal segmental glomerulosclerosis is a form of kidney injury defined by partial sclerosis of some but not all glomeruli. It is characterized clinically by significant proteinuria with or without features of nephrotic syndrome. Some patients develop end-stage renal disease (summary by Barua et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278). [from OMIM]

MedGen UID:
807486
Concept ID:
CN219277
Disease or Syndrome
16.

Renal tubulopathy-encephalopathy-liver failure syndrome

Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders. [from ORDO]

MedGen UID:
797387
Concept ID:
CN202065
Disease or Syndrome
17.

Focal segmental glomerulosclerosis 6

Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278). [from OMIM]

MedGen UID:
481535
Concept ID:
C3279905
Disease or Syndrome
18.

Focal segmental glomerulosclerosis 3

MedGen UID:
431833
Concept ID:
CN068928
Disease or Syndrome
19.

Death in childhood

Death in during childhood, defined here as between the ages of 2 and 10 years. [from HPO]

MedGen UID:
334390
Concept ID:
C1843392
Finding
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...