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SGU FTM1 E1 > DISEASES/DISORDERS > Flashcards

DISEASES/DISORDERS Flashcards

1
Q

Familial Hypercholesteremia

A

Inheritance pattern: Autosomal Dominant
Gene: LDL Receptor Deficiency or ApoB mutation
Genetic mechanism: Haploinsufficiency
Clinical features: Xanthomas, early onset heart disease - angina pectoris, heart attacks, coronary artery disease
Treatment: Statin drugs

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2
Q

Myotonic Dystrophy (MD)

A

Inheritance pattern: Autosomal Dominant
Gene: DMPK
Genetic mechanism: Triple Repeat Expansion (CTG repeat in 3’ UTR) - Non Mendellian; Pleiotropic; Anticipation
Clinical features: Muscle wasting, cataracts, heart conduction defects, myotonia, endocrine changes
Treatment: Pacemaker, physical activity, orthotics, mobility aids

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3
Q

Osteogenesis Imperfecta (Types 1, 2, 3, 4)

A

Inheritance pattern: Autosomal Dominant
Gene: COL1A1 (chromosome 17) or COL1A2 (chromosome 7)
Genetic mechanism: Haploinsufficiency (Type 1), Dominant Negative (Type 2, 3, 4), Pleiotropic, Variable expression, New mutation
Clinical features: Brittle bones, blue sclera, hearing loss, shorter height

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4
Q

Van der Woude

A

Inheritance pattern: Autosomal Dominant
Gene:
Genetic mechanism: Incomplete penetrance
Clinical features: Lip pits, bilateral cleft lip & palate

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5
Q

Acute Intermittent Porphyria (AIP)

A

Inheritance pattern: Autosomal Dominant
Gene: enzyme deficiency of porphobilinogen
Genetic mechanism: Haploinsufficiency, Variable expressivity
Clinical features: ANS symptoms, abdominal pain, urinary symptoms

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6
Q

Achondroplasia

A

Inheritance pattern: Autosomal Dominant
Gene: FGFR3
Genetic mechanism: Gain of function, New mutation, De Novo, Paternal age affected
Clinical features: Stunting of growth

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7
Q

Marfan Syndrome

A

Inheritance pattern: Autosomal Dominant
Gene: FBN1
Genetic mechanism: Dominant Negative, Pleiotropic, New mutation, De novo, Paternal age affected
Clinical features: Very tall, Pectus excavatum, cardiovasacular disease (mitral valve prolapse; aortic aneurysm), scoliosis, arachnodactyl, ocular abnormalities (myopia, lens dislocation)

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8
Q

Huntington Disease

A

Inheritance pattern: Autosomal Dominant
Gene: Huntinton (HTT)
Genetic mechanism: Gain of function, Triple repeat expansion (CAG repeat in coding region - glutamine), Non-Mendelian, Incomplete penetrance - delayed age of onset, Anticipation
Clinical features: chorea, psychomotor dysfunction

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9
Q

Charot-Marie-Tooth Disease

A

Inheritance pattern: Autosomal Dominant, Autosomal Recessive, or X-Linked Recessive
Gene: CMT1A (AD), CMTX (X-linked), PMP22, MPZ
Genetic mechanism: Locus heterogeneity
Clinical features:

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10
Q

Neurofibromatosis

A

Inheritance pattern: Autosomal Dominant
Gene: NF1
Genetic mechanism: Allelic heterogeneity, Variable expression, High penetrance, New mutation, De novo
Clinical features: Neurofibromas, lisch nodules in iris, cafe au lait, increased risk of cancer

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11
Q

MELAS

A

Inheritance pattern: Mitochondrial
Gene:
Genetic mechanism: Heteroplasmy
Clinical features: Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like episodes

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12
Q

Leber Hereditary Optic Neuropathy

A

Inheritance pattern: Mitochondrial
Gene: MT-ND1, MT-ND4, MT-ND4L, MT-ND6
Genetic mechanism:
Clinical features: Progressive blindness around 20-30

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13
Q

Myoclonic Epilepsy with Ragged Red Fibers (MERRF)

A

Inheritance pattern: Mitochondrial
Gene: tRNA
Genetic mechanism:
Clinical features: Affects ATP production

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14
Q

Tay-Sachs Disease

A

Inheritance pattern: Autosomal Recessive, Lysosomal Disorder
Gene: HEXA (Hexosaminidase A) deficiency leads to accumulation of GM2 Ganglioside
Genetic mechanism:
Clinical features: Neuronal death in brain & spinal cord, cognitive and motor deterioration, ataxia, red spot of sclera of eye, affects nervous system

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15
Q

Cystic Fibrosis

A

Inheritance pattern: Autosomal Recessive
Gene: CFTR
Genetic mechanism: Loss of function, Allelic heterogeneity, Compound heterozygote, Variable expression
Clinical features: Thick mucus in lung & airways, recurrent infection & damage to lung tissue, fat malabsorption, male infertility, elevated sweat chloride levels

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16
Q

Sickle Cell Anemia

A

Inheritance pattern: Autosomal Recessive
Gene: Beta-globin
Genetic mechanism: Gain of function - novel, Heterozygote advantage
Clinical features: distorted RBCs, acute chest syndrome, ulcers, general pain

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17
Q

Phenylketonuria (PKU)

A

Inheritance pattern: Autosomal Recessive
Gene: Phenylalanine hydroxylase
Genetic mechanism: Loss of function
Clinical features: Seizures, hypopigmentation, musty odor, microencephaly, hyperactivity, learning disabilities

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18
Q

Congenital Deafness

A

Inheritance pattern: Autosomal Recessive
Gene: multiple genes
Genetic mechanism: Loss of function, Gene complementation, Locus heterogeneity

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19
Q

SCIDS due to ADA deficiency (Adenosine Deaminase)

A

Inheritance pattern: Autosomal Recessive
Gene: ADA
Genetic mechanism: Loss of function, Locus heterogeneity
Clinical features: Purine degradation pathway affected, build up of dATP is toxic to B-cell and T-cell development

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20
Q

Hematochromatosis

A

Inheritance pattern: Autosomal Recessive
Gene: HFE mutation (C282Y, H63D, S65C) - iron metabolism gene
Genetic mechanism: Loss of function, Allelic heterogeneity, Incomplete penetrance, Variable expression, Delayed age of onset
Clinical features: Iron overload, cirrhosis of the liver, diabetes, cardiomyopathy, arthritis

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21
Q

Alkaptonuria

A

Inheritance pattern: Autosomal Recessive
Gene: HGD (homogentisate 1,2 dioxygenase) - cant metabolize tyrosine & phenylalanine
Genetic mechanism: Loss of function
Clinical features: dark urine, kidney stones, cartilidge & heart valve damage

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22
Q

Homocystinuria

A

Inheritance pattern: Autosomal Recessive
Gene:
Genetic mechanism: Loss of function
Clinical features:

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23
Q

Galactosemia

A

Inheritance pattern: Autosomal Recessive
Gene: G1P uridyl transferase, galactokinase, or EDP-Gal epimerase
Genetic mechanism: Loss of function
Clinical features: brain damage, renal failure, vomiting, seizure, hypoglycemia, lethargy, cirrhosis, cataracts

24
Q

Alpha-1-Antitrypsin Deficiency

A

Inheritance pattern: Autosomal Recessive
Gene: alpha-1-antitrypsin
Genetic mechanism: Loss of function
Clinical features: COPD, Emphysema, cirrhosis, pancreatitis, asthma

25
Q

Xeroderma Pigmentorum

A

Inheritance pattern: Autosomal Recessive
Gene: nucleotide excision repair enzyme
Genetic mechanism: Variable expression
Clinical features: severe sunburn, freckles, skin cancers, limited hair growth, spider veins, corneal ulcerations, sun sensitivity to skin and eyes
Notes: More severe in individuals more frequently exposed to UV radiation

26
Q

Rett Syndrome

A

Inheritance pattern: X-Linked Dominant
Gene:
Genetic mechanism:
Clinical features:

27
Q

Incontinentia Pigmenti

A

Inheritance pattern: X-Linked Dominant
Gene:
Genetic mechanism: Variable expressivity
Clinical features: Female mocaicism - patches of hyperpigmentation/“marble cake appearance”, intellectual & learning disabilities, retinal detatchment

28
Q

Vitamin D Resistant Rickets

A

Inheritance pattern: X-Linked Dominant
Gene:
Genetic mechanism:
Clinical features:

29
Q

Duchenne Muscular Dystrophy

A

Inheritance pattern: X-Linked Recessive
Gene: Dystrophin gene
Genetic mechanism: Manifesting heterozygote, New mutation
Clinical features: Muscle weakness, Pseudohypertrophy of calf muscles (muscle replaced by adipose tissue)

30
Q

Becker Muscular Dystrophy

A

Inheritance pattern: X-Linked Recessive
Gene: Dystrophin
Genetic mechanism:
Clinical features:

31
Q

G6PD Deficiency

A

Inheritance pattern: X-Linked Recessive
Gene:
Genetic mechanism:
Clinical features:

32
Q

Hemophilia A & B

A

Inheritance pattern: X-Linked Recessive
Gene: Clotting factor VIII
Genetic mechanism: Allelic heterogeneity, Asymmetric/Skewed X-inactivation, Manifesting heterozygotes
Clinical features: Increased tendency to bleed after minor trauma, Hemarthrosis, Subcutaneous hematoma

33
Q

Lesch-Nyhan Syndrome

A

Inheritance pattern: X-Linked Recessive
Gene: HGPRT deficiency (Hypoxanthine Guanine Phosphoribosyl Transferase)
Genetic mechanism:
Clinical features: Hyperuricemia, Gout, mental disability, poor muscle control

34
Q

Red-Green Color Blindness

A

Inheritance pattern: X-Linked Recessive
Gene:
Genetic mechanism:
Clinical features:

35
Q

X-Linked SCID

A

Inheritance pattern: X-Linked Recessive
Gene: SCIDX1
Genetic mechanism: Locus Heterogeneity
Clinical features:

36
Q

Retinitis Pigmentosa

A

Inheritance pattern: Digenic
Gene: ROM1 & Peripherin
Genetic mechanism: Locus heterogeneity, Non-Mendelian pattern
Clinical features: Progressive visual impairment, Degenerating rods

37
Q

Prader Willi Syndrome

A

Inheritance pattern: Imprinting
Gene: Loss of SNRPN: Microdeletion of parental 15q11-13/absence of SNRPN) or maternal uniparental disomy of ch15/2 active copies of UBE3A
Genetic mechanism: Non-mendelian pattern, Pleiotropic
Clinical features: Obese kids, mental & developmental delay, underdeveloped genetalia, hypotonia in infancy, failure to thrive

38
Q

Angelman Syndrome

A

Inheritance pattern: Imprinting
Gene: Loss of UBE3A: Deletion of maternal 15q11-13/absence of UBE3A or uniparental disomy of parental ch15/2 copies of SNRPN
Genetic mechanism:
Clinical features: Happy disposition, puppet-like posture, laugh inappropriately, mental retardation, seizures

39
Q

Fragile X Syndrome

A

Inheritance pattern: XXX due to meiosis II non-disjunction
Gene:
Genetic mechanism: Triple repeat (CGG in promoter of FMR1 gene)
Clinical features: elongated face, prominent ears, macro-orchidism, intellectual disability, temper tantrums, anxiety, can’t speak, difficulty maintaining eye contact, hand slapping when excited

40
Q

Friedrich Ataxia

A

Inheritance pattern: Autosomal Recessive
Gene:
Genetic mechanism: Triple repeat (GAA in intron on FXN gene)
Clinical features: Nervous system damage, scoliosis, heart disease, diabetes, vision & hearing impairment, slurred speech, poor coordination

41
Q

Breast Cancer

A

Inheritance pattern:
Gene: BRCA1 or BRCA2
Genetic mechanism: Incomplete penetrance, Locus heterogeneity, Delayed age of onset
Clinical features:

42
Q

Waardenburg Syndrome

A

Inheritance pattern:
Gene: Paternal PAX3
Genetic mechanism: Locus heterogeneity
Clinical features: Sensorineural hearing loss

43
Q

Lipidoses

A

Inheritance pattern: Lipid storage dx
Gene:
Genetic mechanism:
Clinical features:

44
Q

Zellweger

A

Inheritance pattern: Peroxisomal dx
Gene:
Genetic mechanism:
Clinical features: Defective import of proteins

45
Q

Alzheimer’s Disease

A

Inheritance pattern:
Gene: Tau proteins
Genetic mechanism:
Clinical features:

46
Q

Respiratory Distress Syndrome

A

Inheritance pattern: Role of phospholipid in surfactant
Gene: DPPC (Dipalmitolyphosphatidylcholine), Lecithin-Sphingomeylin ratio
Genetic mechanism:
Clinical features:

47
Q

Limb Girdle Muscular Dystrophy

A

Inheritance pattern:
Gene: Capain 3 - new splice site within exon —> shorter protein
Genetic mechanism:
Clinical features:

48
Q

Beta-Thalassemia

A

Inheritance pattern:
Gene: B-globulin —> additional splice sites —> frame shift/premature stop
Genetic mechanism:
Clinical features:

49
Q

Transmissible spongiform encephalopathy

A

Kinds: Creutzfelt-Jacob, Scrapie, Mad-Cow
Inheritance pattern: Prion Disease
Gene:
Genetic mechanism: sporadic, infection, genetic predisposition
Clinical features: Dementia, loss of coordination, death

50
Q

Turner’s Syndrome

A

Inheritance pattern: Single X chromosome due to meiosis I non-disjunction
Clinical features: Short stature, lymphedema of hand & feet in newborns, low-set ears, amenorrhea, webbed neck, sterility, aortic valve stenosis, low posterior hairline, broad chest

51
Q

Kleinfelter’s Syndrome

A

Inheritance pattern: XXY due to meiosis I non-disjunction
Clinical features: weak muscles, greater height, sterility, poor coordination, less body hair, primary hypogonadism, gynecomastia, decreased libido

52
Q

XYY Syndrome

A

Inheritance pattern: meiosis II non-disjunction

Clinical features: antisocial behavior

53
Q

DiGeorge Syndrome/VCFS

A 
Inheritance pattern: AD if inherited
Gene: Microdeletion of 22q11.2
Genetic mechanism: De novo
Clinical features: cardiac anomalies, immunodeficiency symptoms-recurrent infection, left lip/palate, hypoparathyroidism, pharyngeal pouches
Notes: Best detected by FISH
54
Q

Hurler Syndrome (MPS I)

A

Inheritance pattern: Lysosomal storage
Faulty enzyme: alpha-L-Iduroniasie
Accumulating product: Dermatan sulphate
Main organs affected: Skeleton & nervous tissue

55
Q

Pompe Disease

A

Inheritance pattern: Lysosomal storage
Faulty enzyme: alpha-1,4-glucosidase
Accumulating product: Glycogen
Main organs affected: Skeleton & nervous tissue

56
Q

Gaucher Disease

A

Inheritance pattern: Lysosomal storage
Faulty enzyme: Glucocerebrosidase
Accumulating product: Glucosylceramide
Main organs affected: Liver & spleen

57
Q

I-cell Disease

A

Inheritance pattern: Lysosomal storage
Faulty enzyme: Phosphotransferase for M6P formation
Accumulating product: Lysosomal hydrolyses are absent in lysosomes
Main organs affected: Skeleton & nervous system

SGU FTM1 E1 (11 decks)

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