Genetic disorders

Common genetic disorders are very common and medical professionals should understand in brief about significant disorders.
which may enable them to achieve a better role in genetic counselling.

1. GENETIC DISORDERS Mamta Parihar M.Sc. Nursing G.C.O.N Jodhpur Batch- 2013

2. INTRODUCTION

3. DEFINITION Genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth.

4. TERMINOLOGIES:- CHROMOSOME:- A chromosome is a strand of DNA that is encoded with genes. GENOME:- A Genome is all the DNA in an organism, including its gene. Genes carry information for making all the proteins required by the organisms.

5. GENE:- Gene is a part of cell that controls or influences the appearance, growth, etc. Of a living thing. A gene is a specified sequence of nucleotides in DNA or RNA that is located usually on a chromosome.

6. TYPES OF GENETIC DISORDERS: SINGLE GENE DISORDERS MULTIPLE GENE DISORDERS CHROMOSOMAL DISORDERS MITOCHONDRIAL DISORDERS

7. SINGLE GENE DISORDERS

8. PATTERN OF INHERITANCE AUTOSOMAL DOMINANT INHERITANCE (AD)- Huntington Disease Glaucoma Diabetes Insipidus

9. AUTOSOMAL RECESSIVE INHERITANCE (AR)- Cystic Fibrosis, Galactosemia , Phenylketonuria, Sickle Cell Anaemia, Spina Bifida, Thalassemia, Night Blindness

10. X LINKED DOMINENT INHERITANCE- Diabetes etc.

11. X-LINKED RECESSIVE INHERITANCE (XR)- colour blindness, haemophilia –A, hemochromatosis etc.

12. Cystic Fibrosis (AR) CAUSING FACTORS Mutation In The Gene Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Protein

13. SIGNS AND SYMPTOMS Frequent lung infection Enlarged heart Gallstones Sinus problems Nose polyps Malabsorption Heart burn Intussusception Constipation Diabetes Infertility  

14. Huntington’s Disease (AD) CAUSING FACTORS Abnormal Dominant Gene

15. SIGNS AND SYMPTOMS Jerks and spasms of the face, arms and trunk Clumsiness Mood swings(aggressive antisocial behaviour) Poor memory (recent memory ) Later.... Dementia Difficulty in speaking and swallowing Urinary incontinence Anxiety and depression

16. Inborn Error Of Metabolism (phenylketonuria And Galactosemia ) (AR) CAUSING FACTORS Mutation in gene that codes for any enzyme (PAH) as a result body not able to break proteins and amino acids and they can accumulate in body.

17. SIGNS AND SYMPTOMS Seizure, lethargy, vomiting Delay development Behavioural problems Hypopigmentation (excessive fair hair and skin) Musty order of baby’s sweat and urine Severe learning disabilities later in life Unexplained illness Failure to thrive in a newborn Drowsiness Floppiness

18. Sickle Cell Disease (AR) CAUSING FACTORS Mutation in haemoglobin beta gene found on chromosome 11

19. SIGNS AND SYMPTOMS Tiredness & Weakness Shortness Of Breath Dizziness

20. Severe Combined Immunodeficiency CAUSING FACTORS Mutation In SCIDXI Gene Located On The X Chromosome

21. SIGNS AND SYMPTOMS Baby getting continuous infection Ear and Sinus infection Chronic cough Rashes on skin Finally pneumonia, Meningitis

22. Haemophilia (XR) CAUSING FACTORS Absence Of Clotting Factor Viii

23. SIGNS AND SYMPTOMS Primarily bruises and hematomas Continuous bleeding

24. Red Green Blindness (XR) CAUSING FACTORS Mutation in the X Chromosome Brain or retinal damage caused by Shaken Baby Syndrome

25. SIGNS AND SYMPTOMS Red, orange, green and yellow colour appears same Whole colour spectrum is affected by colour blindness

26. MULTIPLE GENE DISORDERS

27. Diabetes Mellitus CAUSING FACTORS In type 1 diabetes gene HLA-DR3 0r HLA-DR4 TYPE2 Diabetes TCF7L2 affect insulin secretion and glucose production

28. SIGNS AND SYMPTOMS Polyuria Polydipsia Polyphagia

29. Asthma CAUSING FACTOR An over active gene ’ORMDL3’ is responsible for disrupting the synthesis of lipid molecule

30. SIGNS AND SYMPTOMS Coughing Shortness Of Breath Chest Tightness Wheezing

31. Autoimmune Disease CAUSING FACTOR Cause is not known but 1 theory is that some microorganisms or drug may trigger changes that confuse to immune system

32. SIGNS AND SYMPTOMS Fatigue Fever Malaise( General ill Feeling) Joint Pain Rash

33. Cleft Palate AND CLEFT LIP CAUSING FACTORS Transmembrane Protein 1 And GAD1 etc.

34. SIGNS AND SYMPTOMS CLEFT PALATE The tissue that makes up the roof of the mouth does not join correctly Babies may have both front or back parts are open or only one part open CLEFT LIP It is due to the failure of fusion

35.   Neural Tube Defect CAUSING FACTORS Two mutations of the FOLATE DEPENDENT ENZYME(5,10 METHYLENETETRAHYDROFOLATE REDUCTASE(MTHFR), MTHFR C677T AND MTHFR A1298C

36. SIGNS AND SYMPTOMS Anencephaly - initial anencephaly and after that anencephaly because of mechanical and vascular disruption .

37. Spina bifida - It is set of malformation to the spinal cord caused by failure of closure of neural tube and lack of fusion of the vertebral arches, soft tissues and skin that cover the back.

38. Encephalocele – It is the protrusion of brain through the defect of skull usually in the occipital area.

39. CHROMOSOMAL DISORDERS

40. Down Syndrome CAUSING FACTORS 3 Copies of Chromosome 21 (Trisomy 21)

41. SIGNS AND SYMPTOMS Round face with full cheeks Long, thick and protruding tongue Flattening of the back of the head Short, broad hand Floppy limbs Excess skin on the back of the neck. Eyes that stand up at the outer corner with fold of skin covering the inner corner of the eye.

42. Turner Syndrome CAUSING FACTOR Only one x chromosome (total 45 chromosome) mostly occur in female

43. SIGNS AND SYMPTOMS

44. Mitochondrial Disorders

45. Mitochondrial Disease CAUSING FACTOR Mutation in gene of mitochondrial DNA or nuclear DNA  

46. SIGNS AND SYMPTOMS Symptoms according to which cells are affected Loss of motor control Muscle weakness and pain Gastro intestinal disorder and swallowing difficulties Poor growth Cardiac disease Liver disease Diabetes Respiratory complications Seizures Visual/hearing problems Lactic acidosis Developmental delays Susceptibility to infections

47. The end Thanks for patience listening