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Results: 10

1.

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
2.

Cysteamine

A radiation-protective agent that oxidizes in air to form CYSTAMINE. It can be given intravenously or orally to treat radiation sickness. The bitartrate has been used for the oral treatment of nephropathic cystinosis. [from MeSH]

MedGen UID:
41390
Concept ID:
C0010648
Pharmacologic Substance
3.

Cystinosis

Nephropathic cystinosis in untreated children is characterized by renal tubular Fanconi syndrome, poor growth, hypophosphatemic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine crystals in almost all cells, leading to cellular destruction and tissue dysfunction. The typical untreated child has short stature, light complexion, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these therapies, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized only by photophobia resulting from corneal cystine crystal accumulation. [from GeneReviews]

MedGen UID:
1207
Concept ID:
C0010690
Disease or Syndrome
4.

Nephropathic cystinosis

MedGen UID:
449202
Concept ID:
CN073424
Disease or Syndrome
5.

Cysteamine, 35S-Labeled

MedGen UID:
164594
Concept ID:
C0887464
Pharmacologic Substance
6.

Becaptan

MedGen UID:
152636
Concept ID:
C0729097
Pharmacologic Substance
7.

Cystagon

MedGen UID:
147608
Concept ID:
C0733368
Pharmacologic Substance
8.

Mercaptoethylamine

MedGen UID:
39474
Concept ID:
C0086606
Pharmacologic Substance
9.

Infantile nephropathic cystinosis

MedGen UID:
760976
Concept ID:
C3537440
Disease or Syndrome
10.

Mottling

A patchy appearance of the skin caused by underlying blood vessel changes. [from NCI]

MedGen UID:
137060
Concept ID:
C0302133
Finding

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