1. Single gene disorders
Autosomal disorders

2. Outline Introduction Types of Autosomal single gene disorders
Autosomal Dominant
Autosomal Dominant disorders
Autosomal recessive
Autosomal Recessive disorders
References

3. Outline Introduction Types of Autosomal single gene disorders
Autosomal Dominant
Autosomal Dominant disorders
Autosomal recessive
Autosomal Recessive disorders
References

4. Introduction
A genetic disorder is an illness caused by abnormalities in the genome, especially a condition that is present from birth (congenital).
Most genetic disorders are quite rare and affect one person in every several thousands or millions.
Genetic disorders are heritable, and are passed down from the parents' genes.
Other defects may be caused by new mutations or changes to the DNA.

5. Introduction
In such cases, the defect will only be heritable if it occurs in the germ line.
The same disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and by nongenetic causes in still other people.

6. Introduction Monogenic disease; Mendelian disorder.
The result of a single mutated gene Over human diseases are caused by single gene defects.
Single gene disorders can be passed on to subsequent generations in several ways.
Most follow pattern of Mendelian inheritance.

7. Outline Introduction Types of Autosomal single gene disorders
Autosomal Dominant
Autosomal Dominant disorders
Autosomal recessive
Autosomal Recessive disorders
References

8. Types of Autosomal single gene disorders
There are two main types of Autosomal single gene disorders:
Autosomal dominant
Autosomal recessive

9. Outline Introduction Types of Autosomal single gene disorders
Autosomal Dominant
Autosomal Dominant disorders
Autosomal recessive
Autosomal Recessive disorders
References

10. Autosomal Dominant
Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder.
Each affected person usually has one affected parent. 
The chance a child will inherit the mutated gene is 50%. 

11. Autosomal dominant

12. Outline Introduction Types of Autosomal single gene disorders
Autosomal Dominant
Autosomal Dominant disorders
Autosomal recessive
Autosomal Recessive disorders
References

13. Autosomal Dominant disorders
There are may autosomal dominant traits and disorders , these disorders include :
Huntington's disease
Hypercholesterolemia
Achondroplasia

14. Huntington’s Disease The disease is also known as Huntington's chorea.
 Huntington's disease (HD) is an inherited, degenerative brain disorder which results in an eventual loss of both mental and physical control.
The disease is also known as Huntington's chorea.
Chorea means "dance-like movements" and refers to the uncontrolled motions often associated with the disease.

15. Hypercholesterolemia
Definition :A genetic disorder of high cholesterol.
Symptoms
High cholesterol
Heart disease
Heart attacks
Fatty skin deposits
Cholesterol deposits in the eyelids
Chest pains or other signs of heart disease

16. Achondroplasia
Clinical definition: a congenital skeletal dysplasia that results in shortened extremities and macrocephaly and also known as dwarfism.
Etiology: autosomal dominant gain-of-function mutation in fibroblast growth factor receptor.
Symptoms: asymptomatic.
Physical exam : macrocephaly, frontal bossing ,shortening of arms and legs.

17. Achondroplasia

18. outline Introduction Types of Autosomal single gene disorders
Autosomal Dominant
Autosomal Dominant disorders
Autosomal Recessive
Autosomal Recessive disorders
References

19. Autosomal Recessive
Autosomal Recessive Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder.
An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers).
Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder.

20. Autosomal Recessive

21. Outline Introduction Types of Autosomal single gene disorders
Autosomal Dominant
Autosomal Dominant disorders
Autosomal recessive
Autosomal Recessive disorders
References

22. Autosomal Recessive disorders
There are may autosomal recessive traits and disorders , these disorders include :
 cystic fibrosis
sickle cell disease
Tay Sachs disease
Spinal muscular atrophy

23. Cystic Fibrosis
Life threatening, causes thick mucus to build up in various areas of the body (lungs, digestive tract, etc).
protein product produce unusually thick, sticky mucus that:
clogs the lungs
obstructs the pancreas
stops natural enzymes from helping the body break down and absorb food.

24. Sickle Cell Anemia Disorder
where abnormal hemoglobin (a protein inside red blood cells) is produced and warps red blood cells Sickle cells deliver less oxygen to body’s tissues and can get stuck in small blood vessels
descent Hemoglobin carries oxygen to cells, life expectancy shorter, patients used to die of organ failure between 20 and 40, but now people tend to live into their 50s in the US anyway.

25. Tay Sachs disease Rare disease Hereditary mutation
Hex-A protein deficiency 
Needed to dissolve gangliosides.
Malfunction in brain cells and nervous system.

26. Spinal Muscular Atrophy
Lesion site = anterior horn cells and motor nuclei of the brainstem
Signs/Symptoms:
Hypotonia
Weakness
Cranial nerve palsies

27. Outline Introduction Types of Autosomal single gene disorders
Autosomal Dominant
Autosomal Dominant disorders
Autosomal recessive
Autosomal Recessive disorders
References

28. References www.presentationszone.com www.prevention.com