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