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Dictionary » Cystinosis


Introduction: Cystinosis

Description of Cystinosis

Cystinosis (medical condition): A rare biochemical disorder involving the...more »

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  »Introduction: Cystinosis
  »Symptoms of Cystinosis

Cystinosis: An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction. --2004
Source: Diseases Database

Cystinosis: lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in reticuloendothelial cells.
Source: CRISP

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.
Source: MeSH 2007

Cystinosis: Related Topics

These medical condition or symptom topics may be relevant to medical information for Cystinosis:

Cystinosis: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Cystinosis is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Cystinosis, or a subtype of Cystinosis, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)


Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Cystinosis as a "rare disease".

Source - Orphanet

Cystinosis as a Disease

Cystinosis (medical condition): See Cystinosis (disease information).
  »Introduction: Cystinosis
  »Symptoms of Cystinosis

Cystinosis: Related Diseases

Cystinosis: Cystinosis is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: Cystinosis:

Cystinosis: Related Disease Topics

These medical disease topics may be related to Cystinosis:

Terms associated with Cystinosis:

Terms Similar to Cystinosis:

Source: Diseases Database

Broader terms for Cystinosis

Source - MeSH 2007

Source - CRISP

The term Cystinosis can be used for:

Source: CRISP

Hierarchical classifications of Cystinosis

The following list attempts to classify Cystinosis into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

MeSH 2007 Hierarchy

External links related to: Cystinosis

Source: Diseases Database

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