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Items: 5

1.

Infantile nephropathic cystinosis

MedGen UID:
760976
Concept ID:
C3537440
Disease or Syndrome
2.

Cystinosis

A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME. [from MeSH]

MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
3.

Cystinosis, atypical nephropathic

MedGen UID:
413668
Concept ID:
C2749685
Disease or Syndrome
4.

Congenital Fanconi syndrome

constellation of clinical and laboratory manifestations produced by generalized proximal tubular insufficiency in the presence of normal, or nearly normal, glomerular filtration. [from CRISP]

MedGen UID:
341765
Concept ID:
C1857395
Disease or Syndrome
5.

Fanconi syndrome

A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. [from NCI]

MedGen UID:
4653
Concept ID:
C0015624
Disease or Syndrome
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