List of genetic / Hereditary diseases that you may be prone to

Genetic disease is an abnormal condition in person’s genome caused by a change or mutation in individual’s DNA. This genome anomaly can vary from minuscule to severe one affecting the entire genetic hierarchy.

Causes of genetic disease

Symptoms of genetic disorders

  • Some genetic diseases are caused by inheritance of defective genes. The defective genes sometime result in hereditary disease for some generations.
  • In some of the other genetic disorders, some external factors like environment seem to be driven agents for causing changes or mutation of genes. For example exposure to some radiation or chemicals can cause cancer for some person because of their genetic map.

Different types of genetic disease

Different genetic diseases linked with inheritance are mentioned below,

Cystic fibrosis

It is one of the worst genetic diseases harming lungs and digestive systems. It affects the mucus, sweat and digestive secretions and makes the organic fluids thick and sticky blocking tubes, ducts and passageways. This gene alters the protein regulating the momentum of salts in cell.

Recessive and mutated genes cause this genetic abnormality. The child needs to have both copies of this gene from each parent.

The symptoms are:

  • Increased level of salt in sweat
  • Lasting cough associated with mucus and thick spit
  • Persistent lung infection
  • Improper body growth and weight
  • Serious constipation
  • Breathless
  • Inflamed nasal passageway

Angleman syndrome

This is very common genetic disorder causing neurological problems and promoting disabilities. Ubiquitin-protein ligase E3A gene on chromosome 15 faces anomaly as some part of maternal chromosome gets damaged or missing. Inheritance of two paternal copies instead of two parental copies also causes this disorder.

The symptoms are:

  • Delays in growth and development like inability of crawling event after certain period
  • Inability of walk
  • Lacking ability of speech or minimal speech
  • Affected intellectual growth
  • Shaking legs and arms
  • Problem in maintaining body balance
  • Light pigmentation
  • Flat back head
  • Tiny head size

Huntington’s disease

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This is a severe genetic disease affecting the entire nervous system. It causes degeneration of nerve cells in brain which deteriorates the ability of movement, thinking and psychiatric disorder.

Inheritance of autosomal dominant and mutated gene is the main cause for this genetic disease. An individual needs one copy of the gene from any of the parents.

The symptoms are:

  • Muscle contraction and muscle rigidity
  • Loosing capability of voluntary walking
  • Writhing movement
  • Abnormality in eye movements
  • Impaired posture
  • Mental inflexibility
  • Poor appetite
  • Fatigue, Insomnia, thinking of death
  • Psychiatric disorders

Down’s syndrome

Down syndrome is common genetic disorder causing impaired mental growth and development delays. Though this disease is moderate one but sometimes it gets severe.

This is caused by chromosome 21. In Trisomy Down’s syndrome, person carries and extra pair of chromosome in some of the cells. This is common. Translocation Down’s syndrome is the uncommon form of genetic disorder where chromosome 21 is attached into another chromosome.

The symptoms are:

  • Abnormally shorter height than other
  • Development delay
  • Flattened facial features with small head and neck
  • Unusual ear shape
  • Protruding tongue
  • Relatively short hand and short fingers
  • Poor muscle growth

Noonan syndrome

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In this genetic disease normal development of various body parts get impaired. Mutation in autosomal chromosome inherited from parent with defective gene produces protein genetically that disrupts the usual process of cell division and organ growth.

The syndromes are:

  • Short stature
  • Abnormal facial characteristics
  • Congenital heart disease
  • Webby neck
  • Abnormal bleeding problem
  • Nearsightedness
  • Excess fluids on back of the hands and top of the feet.

Sickle cell disease

Sickle cell disease is a genetic disorder that affects the hemoglobin in the blood. The red blood cells turn into sickle or irregular shape blocking the normal flow of the oxygen through the blood vessels. This is one type of inherited anemia causing blood cells to be sticky bringing an attack too.

This is autosomal recessive trait. The victim should get both the copies of gene from parents having this genetic disorder.

This disease shows up at infant stage.

The symptoms are:

  • As sickle cells damage the spleen it causes frequent infection because of low immunity
  • Anemia
  • Pains in bone
  • Swollen hands or feet
  • Delay in growth

The other common genetic diseases are:

  • Tay-Sachs: This is caused by missing enzyme called Hex-A. It promotes the destruction of nervous system and brain causing death.
  • Hemophilia: A bleeding disorder caused by absence of gene for clotting factor inherited from parents.
  • Breast And Colon Cancer
  • Diabetes
  • Arthritis
  • Abnormal Blood Pressure
  • Alzheimer’s disease
  • Obesity
  • Heart Disease
  • Hemachromatosis

People should perform a genetic scan through medical testing so that early precautions can be taken against genetic disorder.