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Genetic Diseases > DISEASES FOR COMMITTEE 2 > Flashcards

DISEASES FOR COMMITTEE 2 Flashcards

1
Q

What are the symptoms of cystic fibrosis?

A

 Chronic obstructive lung disease  Elevated sweat Na+ and Cl- concentration  Depletion of pancreatic enzymes  Malabsorption  Male urogenital abnormalities resulting in obstructive azoospermia

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2
Q

What population has a high frequency of Cystic Fibrosis?

A

White Population

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3
Q

Usually people with cystic fibrosis live to what age?

A

20

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4
Q

3 main info about phenylketonuria?

A

1) they should have a diet low in phenylalanine
2) they have defect in PAH gene
3) they suffer from mental retardation

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5
Q

Where are mucopolysacharrides synthesized?

A

Connective Tissue

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6
Q

Whats the main problem in mucopolysacharridosis?

A

They are a group of storage disease caused by the deficiency of an enzyme which is necessary for the destruction of mucopolysaccharides This causes accumulation of mucopolysaccharides

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7
Q

Whats the name of enzyme deffecient in mucopolysacharidosis?

A

alpha-L-idoridase

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8
Q

what are the 2 types of mucopolysacharidosis?

A

1) Hurlers Syndrome(severe)

2) Scheie Syndrome

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9
Q

symptoms of hurlers syndrome?

A

1) retardation
2) excretion of heparin and sulphate in urine
3) course shape face
4) short stature

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10
Q

symptoms of schieie syndrome

A

1) also excretion of sulphate and heparin in unrine
2) arthritis
3) heart disease
4) eye problems

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11
Q

Whats the defect in Familial Mediterranean Fever (FMF

A

FMF gene

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12
Q

Whats the syptoms of Familial Mediterranean Fever (FMF

A

serosal inflammation with fever

the hardesr type is secondary amyloidosis

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13
Q

What medicine can you give to Familial Mediterranean Fever (FMF patients?

A

Colchicine

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14
Q

3 main info about Albinism?

A

Skin, eye and hair pigment is absent or much reduced  It does not affect vital organs and systems.  nystagmus ve strabismus

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15
Q

List the 4 examples of X linked Dominant Diseases

A

 Pseudohypoparathyroidism  Incontinentia pigmenti  Rett sendrom AND Vitamin D Ricket Resistance

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16
Q

What happens in Vitamin D Ricket Resistance

A

Abnormal phosphate reabsorption in renal tubes

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17
Q

LIst the 2 examples of Y linked diseases

A

ichthyosis hystrix :  syndactyly: adherent fingers or toes 

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18
Q

list the 6 examples of X linked Reccesive

A

1) Glaucoma
2) Night Blindness
3) Red/green colour blindness
4) Haemophillia
5) Cataracts
6) Duchenne Muscular Dystrophy

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19
Q

Red/Green Colorblindness –

A

Difficulty perceiving differences between colors (red or green, blue or yellow).

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20
Q

Hemophilia –

A

Absence of one or more proteins necessary for normal blood clotting. 

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21
Q

Cataracts –

A

opacity in the lens that can lead to blindness

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22
Q

Night blindness –

A

(Nyctalopia) rods do not work so that can not see in the dark

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23
Q

Glaucoma –

A

pressure in the eye that can lead to optic nerve damage and blindness

24
Q

Duchenne Muscular Dystrophy

A

Progressive weakness and degeneration of skeletal muscles that control movement due to absence of dystrophin (protein that maintains muscle integrity).

25
Q

Whats the function of dystrophin

A

maintaining muscle integrity

26
Q

What does MELAS stand for?

A

mitochondriyal encephalomyopathy, lactic acidosis Attacks like stroke

27
Q

Where is the mutation in MELAS?

A

in tRNA leucine gene

28
Q

Syptoms of MELAS

A

hearing loss,cardial problems,diabetes type 2

29
Q

Syptoms of LHON

A

Typical presentation is acute, painless loss of vision. Initially, it affects one eye, within weeks to months, it also affects the second eye. It progresses to severe optic atrophy.

30
Q

what makes LHON different from other mitochondrial diseases

A

Affects only optic nerve not all systems

31
Q

what type of disorder is LHON

A

Mitochondrial

32
Q

LHON has….

A

low penetrance so some carriers stay assyptomatic

33
Q

types of Diabetes mellitus (DM)

A

Type 1,no insulin production

Type 2,resistance to insulin produced

34
Q

Syptoms of Diabetes mellitus (DM)

A

1) Excessive Urination
2) Weight loss
3) Blurred Vision
4) Metabolic Problems

35
Q

Which type of Diabetes mellitus (DM) depends more in genetics and inheritance?

A

Type 2

36
Q

what happens in Cleft lip and cleft palate

A

A cleft is a sub-division in the body’s natural structure, regularly formed before birth

37
Q

What happens in Anencephaly

A

some parts not developed in skull or that the brain is developed but not covered

38
Q

Do Anencephaly patients survive

A

Usually die in mothers womb or may be born but die immediately cause of breathing or heart problems

39
Q

what type of defect is Spina bifida

A

neural tube defect

40
Q

Syptoms of Spina bifida

A

Varying degrees of paralysis  Learning disabilities  Bowel and bladder problems

41
Q

what are the 4 examples of MF diseases?

A

1) spina bifida
2) anencephaly
3) Diabetes
4) Cleft lip and Palate

42
Q

Whats the defect in

Neurofibromatosis type 1

A

GTPase activating protein/signal transduction

43
Q

Syptoms of

Neurofibromatosis type 1

A

Almost complete penetrance by age 5 years

 Cafe-au-lait spots  Lisch nodules

44
Q

Syptoms of Achrondoplastia

A

 Dwarfism with short limbs,  Short stature,  Big head,  Depressed nasal bridge,  Prominent forehead,  Skeletal deformity

45
Q

What type of mutation in achrondoplastia

A

fresh mutation

46
Q

whats the defect in n

Familial hypercholesterolemia

A

LDL receptor protein

47
Q

what do patients of

Familial hypercholesterolemia suffer from

A

elevated level of cholesterol/xathomas

48
Q

defect of Marfan Syndrome

A

connective tissue disease Fibrillin-1 (FBN1)

49
Q

syptoms of Marfan Syndrome

A

 skeletal deformities,  eye problems  cardiac problems  skin and respiration problems

50
Q

Defect of Osteogenesis imperfecta

A

in Collagen 1 production

51
Q

symptoms of Osteogenesis imperfecta

A

 Non-accidental injury  fractures and reduced bone density.  blue sclerae,  hyperextansibility  hearing loss

52
Q

defect of Polydactyly

A

HOX 13 gene

53
Q

polydactyly causes

A

skeletal deformations

54
Q

List the 6 AD diseases

A

Neurofibromatosis type 1

2) Polydactyly
3) Osteogenesis imperfecta
4) Marfan Syndrome
5) Familial hypercholesterolemia
6) achrondoplastia

55
Q

syptoms of mitochondrial inherited diseases

A
  • myopathy,
  • ataxia,
  • retinopathy
  • optic neuropathy
  • hepatopathy,
  • bone marrow failure,
  • diabetes mellitus,
  • migraine,
  • hearing loss*,etc
56
Q

Kearns-Sayre and Pearson syndromes; what is it?

A

– They occur sporadic in the families and

there is no maternal inheritance, because in

every patient there is a new mitochondrial

mutation.

Genetic Diseases (2 decks)

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