Thiamine responsive megaloblastic anemia syndrome

Introduction: Thiamine responsive megaloblastic anemia syndrome

Description of Thiamine responsive megaloblastic anemia syndrome

Thiamine responsive megaloblastic anemia syndrome (medical condition): A rare genetic disorder characterized by megaloblastic anemia, hearing loss and diabetes. The condition is caused by a deficiency of a thiamine (vitamin B1) transporter protein which means that the body is unable to effectively utilize thiamine from the diet.

See also:

Thiamine responsive megaloblastic anemia syndrome:
  »Introduction: Thiamine responsive megaloblastic anemia syndrome
  »Symptoms of Thiamine responsive megaloblastic anemia syndrome

Thiamine responsive megaloblastic anemia syndrome: Related Topics

These medical condition or symptom topics may be relevant to medical information for Thiamine responsive megaloblastic anemia syndrome:

• Megaloblastic anemia
• Thiamine
• Anemia (810 causes)

Thiamine responsive megaloblastic anemia syndrome: Rare Disease

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

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

Ophanet

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

Source - Orphanet

Thiamine responsive megaloblastic anemia syndrome as a Disease

Thiamine responsive megaloblastic anemia syndrome (medical condition): See Thiamine responsive megaloblastic anemia syndrome (disease information).
  »Introduction: Thiamine responsive megaloblastic anemia syndrome
  »Symptoms of Thiamine responsive megaloblastic anemia syndrome

More information on medical condition: Thiamine responsive megaloblastic anemia syndrome:

• Information about Thiamine responsive megaloblastic anemia syndrome
• Basic Summary for Thiamine responsive megaloblastic anemia syndrome
• Symptoms of Thiamine responsive megaloblastic anemia syndrome

Terms associated with Thiamine responsive megaloblastic anemia syndrome:

Terms Similar to Thiamine responsive megaloblastic anemia syndrome:

• Roger's syndrome

Source: Diseases Database

• Abboud syndrome
• Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase act
• Rogers syndrome
• TRMA
• Thiamine responsive myelodysplasia

Source - NIH

External links related to: Thiamine responsive megaloblastic anemia syndrome

• OMIM - THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA
• GeneReviews: Thiamine-Responsive Megaloblastic Anemia Syndrome

Source: Diseases Database

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