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List of Autosomal Dominant and Recessive Disorders

December 25, 2012 by Dr. Varun Pandula 7 Comments

Autosomal dominant and recessive disorders play a major role in determining the transfer of disease from parents to children. These are also used to determine any Hereditary gene which can be passed on to children leading to passing on the disorder from parent to child. There are two types of disorders based on the type of Gene. Dominant – Only one copy of the gene is enough to transfer the disorder. In Recessive – Two copies of the gene are required to transfer the disorder from parent to child.

What is Autosomal Dominant?

If the disorder is Autosomal dominant only one infected gene from any one parent is enough to cause the disease in the child.

What is Autosomal Recessive?

If the disorder is Autosomal recessive there should be transfer of both affected genes from both the parents to cause the disease. If gene from only one parent is transferred then the child becomes a carrier but does not get the disease.

List of Autosomal dominant and recessive

List of Autosomal Dominant disorders:

Nervous:

  • Huntingtons disease
  • Neurofibromatosis
  • Myotonic dystrophy
  • Tuberous Sclerosis

Urinary:

  • Polycystic kidney disease

Gastrointestinal:

  • Familial polyposes coli

Hematopoietic:

  • Hereditary Spherocytoses
  • Von Willerbrand disease

Skeletal:

  • Marfan syndrome
  • Ehlers Danlos Syndrome
  • Osteogenesis Imperfecta
  • Achondroplasia

Metabolic:

  • Familial hypercholestrolemia
  • Acute intermittent porphyria

List of Autosomal Recessive Disorders:

Metabolic:

  • Cystic fibrosis
  • Phenylketonurea
  • Galactosemia
  • Homocystinuria
  • Lysosomal storage disease
  • Alpha 1 Antitrypsin deficiency
  • Wilsons disease
  • Hemochromatoses
  • Glycogen storage disease

Hematopoietic:

  • Sickle cell Anemia
  • Thalassemias

Endocrine:

  • Congenital adrenal hyperplasia

Skeletal:

  • Ehlers Danlos Syndrome
  • Alkaptonurea

Nervous:

  • Neurogenic muscular atrophies
  • Friedrich ataxia
  • Spinal muscular atrophy

Comments

  1. mohamed says

    November 6, 2014 at 2:06 pm

    I need this diseases

  2. Azeem D Gadi says

    February 11, 2015 at 12:17 am

    Highly appreciable effort. I was looking for a quick and concise reference of autosomal disorders for my exam. Your website provided me the answer. Thanks and keep it up please.

  3. Sheethal says

    February 1, 2016 at 7:45 pm

    Thanks a lot. This is very easy to remember for exams.

  4. Liz says

    August 13, 2017 at 11:12 am

    Thanks a lot easy to adastand

  5. Zaharaddeen zddeen says

    May 17, 2018 at 7:09 am

    Very interesting i like that…Happy to see this website

  6. Vikram says

    January 9, 2020 at 9:00 pm

    Could you send a version of this to me that I can copy? Because I need this for a competition called Science Olympiad, it’s a competition involving Science. I would like to put this on my cheat sheet.

    Thank you.

  7. Varun says

    January 16, 2020 at 1:35 pm

    Sure will forward it to your mail i.d

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Varun Pandula

Varun Pandula

A Dentist by profession but a tech enthusiast by heart, trying to learn and enjoy both the professions.

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About Me

Hi I'm Varun, I'm currently a Dental Surgeon from India practicing from the past few years. I Started this Blog to help dental students as you can see from the name and also constantly try to keep updating information which can be useful for patients and Dental Practitioners as well. You can contact me here to for any Questions. Read More…

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