Genetic disease

A disease or genetic disorder is a pathological condition caused by an alteration of the genome. This may or may not be hereditary; if the altered gene is present in the gametes (ovules and sperm) of the germ line, it will be hereditary (it will pass from generation to generation), on the contrary, if it only affects somatic cells, it will not be inherited. They can be monogenic, polygenic, or chromosomal.

Diagram with examples of diseases associated with chromosome

Causes

There are several possible causes:

• Mutation, such as many cancers.
• Trisomy of chromosomes, such as Down syndrome, or repeated duplication of a part of chromosome, such as in fragile chromosome X syndrome.
• Deletion of a region of a chromosome, such as in 22q13 deletion syndrome, where the end of the long arm of chromosome 22 is absent, or of a complete chromosome, such as Turner syndrome in which a sexual chromosome is missing.
• One or more genes inherited from parents; in this case the disorder is called hereditary disease. Parents are often healthy, if they are carriers of a recessive gene, such as cystic fibrosis, although there are also cases with dominant genetic defects, such as acondroplasia.

General considerations

The 46 human chromosomes (22 pairs of autosomes and 1 pair of sex chromosomes) between which house nearly 3 billion base pairs of DNA containing about 80,000 protein-coding genes. The coding regions occupy less than 5% of the genome (the function of the rest of the DNA remains unknown), with some chromosomes having higher gene density than others.

One of the biggest problems is finding out how genes contribute to the complex pattern of inheritance of disease, such as diabetes, asthma, cancer, and mental illness. In all of these cases, no single gene has the potential to determine whether or not a person will develop the disease.

Little by little some diseases are becoming known whose cause is the alteration or mutation of all or some region of a gene. These diseases generally affect all cells in the body.

One of the most common genetic diseases is Down syndrome. This disease occurs when there is an error in the division of cells, causing there to be 47 chromosomes, instead of 46.

Some genetic diseases

• P - Punctual mutation, or any insertion/deletion of a gene or part of a gene
• D - Absence of a gene or genes
• C - An entire chromosome leftover, missing or both

Neurological

• Down syndrome
• Tourette Syndrome
• Patau syndrome
• West Syndrome
• Crouzon syndrome

Endocrinology and metabolism

• Prader-Willi syndrome
• Hipotiroidism
• Adrenal hyperplasia
• Family hypercholesterolemia
• Wilson's disease
• Hyperphenolalaninemias
• Hemoglobinopathies

Respiratory diseases

• Cerebral vascular disease
• Asma
• Cystic fibrosis
• Small cell lung cancer
• Zellweger Syndrome

Primary immunodeficiencies

• Sex-related agammaglobulinemia
• Ataxia telangiectasia
• Deficiencies of the complement
• Deaminasa Adenosia (ADA)
• jak-3 deficit
• Severe combined immunodeficiency (SCID)
• Hyper-IgM immunodeficiency
• DiGeorge syndrome
• Nude lymphocyte syndrome
• Wiskott-Aldrich Syndrome

Autoimmune Diseases

• Rheumatoid arthritis
• Celiaquía
• Type 1 diabetes
• Ankylosing spondylitis
• Lupus Eritematosus Systemic
• Self-immune polyglandular syndrome

Autoinflammatory Syndromes

• Family Mediterranean Fiber
• PFAPA
• TRAPS
• Urticaria Familiar Fría (CINCA)
• Muskle-Wells syndrome
• Hiper-IgD Syndrome
• DIRA
• Blau syndrome

Digestive system

• Colorectal cancer
• Crohn's disease
• Cystic fibrosis
• Type 1 Diabetes
• Pancreatic cancer
• Wilson's disease
• Zellweger Syndrome

Muscle and Bone

Blood and Lymphatic Tissue

• Falciform cell anemia
• Burkitt lymphoma
• Disease of Gaucher
• Hemofilia A
• Chronic lymphoid leukemia
• Chronic myeloid leukemia
• Niemann-Pick disease
• Hemoglobinuria nocturnal paroxystic
• Talasemia

Specific diseases in women

• Breast cancer
• Ovarian cancer
• Rett syndrome
• Turner syndrome

Specific diseases in men

• Alport syndrome
• Prostate cancer
• Wiskott Aldrich Syndrome
• Klinefelter syndrome

Cancer