Genetic Disorders

Many human diseases have a genetic component. Some of these conditions are under investigation by
researchers at or associated with the National Human Genome Research Institute (NHGRI).

Overview A genetic disorder is a disease caused in whole or in part by a change in the DNA
sequence away from the normal sequence. Genetic disorders can be caused by a
mutation in one gene (monogenic disorder), by mutations in multiple genes
(multifactorial inheritance disorder), by a combination of gene mutations and
environmental factors, or by damage to chromosomes (changes in the number or
structure of entire chromosomes, the structures that carry genes).

As we unlock the secrets of the human genome (the complete set of human
genes), we are learning that nearly all diseases have a genetic component. Some
diseases are caused by mutations that are inherited from the parents and are
present in an individual at birth, like sickle cell disease. Other diseases are caused
by acquired mutations in a gene or group of genes that occur during a person's
life. Such mutations are not inherited from a parent, but occur either randomly or
due to some environmental exposure (such as cigarette smoke). These include
many cancers, as well as some forms of neurofibromatosis.

List of Genetic Disorders

This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no
means comprehensive.

About Alpha-1 About

About
Antitrypsin Antiphospholipid
Achondroplasia 
Deficiency  Syndrome 

About Attention About Autosomal

Deficit Hyperactivity About Autism  Dominant Polycystic
Disorder  Kidney Disease 

About Charcot-
About Breast Cancer  About Colon Cancer 
Marie-Tooth Disease 

About Cri du Chat About Crohn's About Cystic

Syndrome  Disease  Fibrosis 

About Dercum About Down About Duane

Disease  Syndrome  Syndrome 

About Factor V
About Duchenne About Familial
Leiden
Muscular Dystrophy  Hypercholesterolemia 
Thrombophilia 

About Familial
About Fragile X About Gaucher
Mediterranean
Syndrome  Disease 
Fever 

About About
About Hemophilia 
Hemochromatosis  Holoprosencephaly 

About Huntington's About Inborn Errors About Klinefelter

Disease  of Metabolism  Syndrome 

About
About Marfan About Myotonic
Methylmalonic
Syndrome  Dystrophy 
Acidemia 

About About Noonan About Osteogenesis

Neurofibromatosis  Syndrome  Imperfecta 

About Parkinson's About About Poland

Disease  Phenylketonuria  Anomaly 

About Prostate
About Porphyria  About Progeria 
Cancer 

About Severe
About Retinitis About Sickle Cell
Combined
Pigmentosa  Disease 
Immunodeficiency 

About Spinal About Tay-Sachs

About Skin Cancer 
Muscular Atrophy  Disease 

About About Turner

About Thalassemia 
Trimethylaminuria  Syndrome 

About
About Wilson
Velocardiofacial
Disease 
Syndrome 

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Last updated: May 18, 2018

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