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Cystinosis: Introduction

Cystinosis: A rare biochemical disorder involving the accumulation of a chemical called cystine in various parts of the body which can cause harmful effects. More detailed information about the symptoms, causes, and treatments of Cystinosis is available below.

Symptoms of Cystinosis

Wrongly Diagnosed with Cystinosis?

Cystinosis: Complications

Review possible medical complications related to Cystinosis:

Causes of Cystinosis

Read more about causes of Cystinosis.

Disease Topics Related To Cystinosis

Research the causes of these diseases that are similar to, or related to, Cystinosis:

Cystinosis: Animations

Research about Cystinosis

Visit our research pages for current research about Cystinosis treatments.

Clinical Trials for Cystinosis

The US based website lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on for Cystinosis include:

Statistics for Cystinosis

Cystinosis: Broader Related Topics

User Interactive Forums

Read about other experiences, ask a question about Cystinosis, or answer someone else's question, on our message boards:

Definitions of 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 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 it affects 1 person per 2,000. They list Cystinosis as a "rare disease".
Source - Orphanet

Related Cystinosis Info

More information about Cystinosis

  1. Cystinosis: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Complications

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