HomeGenetic Disorders Information Center: List of Different types of Genetic Disorders

Genetic Disorders Information Center: List of Different types of Genetic Disorders

What is Barakat Syndrome & How is it Treated?|Causes, Symptoms, Complications of Barakat Syndrome

What is Barakat Syndrome?Barakat syndrome is one of the rarest diseases that have been found in the human body. This is a condition that...

What are the Possible Causes of Hemochromatosis & Can Hemochromatosis Be Reversed?

About HemochromatosisHemochromatosis is a condition where excess iron gets deposited in various organs of the body. In this article, we discuss the possible causes...

Birt-Hogg-Dubé Syndrome

What is Birt-Hogg-Dubé Syndrome?Birt-Hogg-Dubé Syndrome is a complex and rare genetic skin disease that characteristically leads to the development of skin papules. These papules...

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

What is Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome?The Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, also referred to as BPES, is a condition where the development of...

How Common Is Niemann Pick Disease Or Is It A Rare Disease?

Niemann Pick disease is a hereditary disease that affects the metabolism of lipids or how fats, lipids, and cholesterol are stored in or removed...

Life Expectancy Of Someone With Niemann Pick Disease

The Niemann Pick disease is a hereditary disorder related to lysosomal storage. The Niemann-Pick disease is a part of the group of diseases involving...

What Are The Types Of Niemann Pick Disease & How Is It Inherited?

Niemann Pick disease is a rare genetic disorder, which happens due to the absence of an enzyme called sphingomyelinase. This enzyme is responsible for...

What Are The Presenting Features Of Hunter Syndrome?

What is Hunter Syndrome?Hunter Syndrome is an extremely rare inherited medical condition characterized by a dysfunctional enzyme called iduronate 2-sulfatase.(1) This enzyme functions by breaking...

Brugada Syndrome

What is a Brugada Syndrome?The human heart is comprised of four chambers. The two upper chambers are known as Atria and the two chambers...

Understanding Dopamine Deficiency Syndrome

Dopamine is a neurotransmitter found naturally in the human body.(1) Dopamine sends signals to the brain from the body.(1) It has an important part in controlling...
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