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Items: 17

1.

Dent disease

Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular-weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease (CKD). Males younger than age ten years may manifest only low molecular-weight (LMW) proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. Rickets or osteomalacia are occasionally observed, and mild short stature, although underappreciated, may be a common occurrence. Disease severity can vary within the same family. Males with Dent disease 2 (caused by mutation of OCRL) are at increased risk for intellectual disability. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely if ever develop CKD. [from GTR]

MedGen UID:
168056
Concept ID:
C0878681
Disease or Syndrome
2.

Nephrolithiasis

Formation of stones in the KIDNEY. [from MeSH]

MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
3.

Hypercalciuria

Abnormally high level of calcium in the urine. [from NCI]

MedGen UID:
43775
Concept ID:
C0020438
Disease or Syndrome
4.

Proteinuria

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

MedGen UID:
10976
Concept ID:
C0033687
Finding; Finding
5.

Nephrocalcinosis

A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY. [from MeSH]

MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
6.

Indicated

MedGen UID:
731837
Concept ID:
C1444656
Finding
7.

Maternal

A designation that has some relationship to motherhood. [from NCI]

MedGen UID:
348949
Concept ID:
C1858460
Finding
8.

Low-molecular-weight proteinuria

Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). [from HPO]

MedGen UID:
333360
Concept ID:
C1839606
Finding
9.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
10.

Renal tubular dysfunction

disease of the kidney structure called tubule [from CHV]

MedGen UID:
57484
Concept ID:
C0151747
Disease or Syndrome
11.

Male Urogenital Diseases

Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). [from MeSH]

MedGen UID:
318601
Concept ID:
C1720894
Disease or Syndrome
12.

Female Urogenital Diseases

Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). [from MeSH]

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
13.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
14.

Disorder of urinary tract

Disorders of any part of the urologic system. [from NCI]

MedGen UID:
21791
Concept ID:
C0042075
Disease or Syndrome
15.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys. [from HPO]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
16.

Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. [from GTR]

MedGen UID:
333426
Concept ID:
C1839874
Disease or Syndrome
17.

Genetic renal tubular disease

MedGen UID:
798447
Concept ID:
CN200561
Disease or Syndrome
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