What is the rarest genetic disease?

According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history.

Is Alagille syndrome rare?

The incidence of Alagille syndrome has been estimated to be approximately 1 in 30,000-45,000 individuals in the general population.

Is Kabuki syndrome rare?

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.

What are some rare syndromes?

Rare Disease Database

  • 47,XXY (Klinefelter Syndrome) Also known as: KS, XXY male.
  • 48, XXYY Syndrome.
  • Aarskog Syndrome.
  • Abetalipoproteinemia.
  • Ablepharon-Macrostomia Syndrome.
  • Acanthocheilonemiasis.
  • Acanthosis Nigricans.
  • Aceruloplasminemia.

What is a very rare disease?

A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.

What is Alagille syndrome life expectancy?

Many people with Alagille syndrome have only mild symptoms and can lead normal lives with normal life expectancy. However, others have severe and even life-threatening complications such as liver failure, serious heart defects, and bleeding or stroke due to blood vessel problems.

Is Alagille syndrome curable?

There is no specific treatment for Alagille syndrome. Management of the condition is aimed at preventing and monitoring for complications. This can include increasing the flow of bile from the liver, maintaining normal growth and development, and reducing the degree of itching.

What is Pitt Hopkins Syndrome?

Pitt-Hopkins syndrome (PTHS) is a rare, genetic, neurological disorder. Affected children have distinctive facial features and experience intellectual disability, delays in reaching developmental milestones, impaired ability to speak, and can have recurrent seizures, and breathing pattern abnormalities.

What diseases that has no cure?

Some of the common medical conditions of people requiring care at the end of life include:

  • cancer.
  • dementia, including Alzheimer’s disease.
  • advanced lung, heart, kidney and liver disease.
  • stroke and other neurological diseases, including motor neurone disease and multiple sclerosis.
  • Huntington’s disease.
  • muscular dystrophy.