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Cytogen > DISEASES BY INHERITANCE PATTERNS > Flashcards

DISEASES BY INHERITANCE PATTERNS Flashcards

1
Q

Autosomal recessive

A

Phenylketonuria
Cystic fibrosis
Sickle cell anemia
Xeroderma pigmentosum
Tay-sachs disease

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2
Q

Autosomal dominant

A

Achondroplasia
Brachydactyly
Familial hypercholesterolemia
Marfan syndrome
Porphyria

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3
Q

X-linked Recessive

A

Red-green colorblindness
Hemophilia A
Lesch-Nyhan Syndrome
Muscular dystrophy
Fragile X syndrome

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4
Q

X-linked Dominant

A

X-linked hypophosphatemia
Alport Syndrome

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5
Q

● ION TRANSPORT disorder

● Affects fluid secretion in exocrine glands and epithelial lining

● Abnormally viscous secretions - obstruct organ passages

A

CYSTIC FIBROSIS

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6
Q

Chronic lung disease - recurrent infection
Pancreatic insufficiency
Steatorrhea
Malnutrition
Cirrhosis
Intestinal obstruction
Male infertility

A

CYSTIC FIBROSIS

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7
Q

Most common lethal genetic disease affecting Caucasian populations

1 in 2500 live births

A

Cystic fibrosis

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8
Q

Autosomal Recessive

(+) heterozygote carriers - higher incidence of respiratory and pancreatic diseases

A

Cystic fibrosis

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9
Q

CYSTIC FIBROSIS

Abnormal Epithelial Cl -Channel protein - ________ gene mutation

A

CFTR (7q31.2) gene mutation

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10
Q

Defective Cl - ion exchange system Altered salt, water and Cl- transport

A

Cystic fibrosis

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11
Q

CFTR (7q31.2) gene mutation

A

Cystic fibrosis

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12
Q

▪ People with ____ can have a variety of symptoms, including:

• Very salty-tasting skin

• Persistent coughing, at times with phlegm

• Frequent lung infections including pneumonia or bronchitis

• Poor growth or weight gain in spite of a good appetite

• Frequent greasy, bulky stools or difficulty with bowel movements

• Male infertility

• Wheezing or shortness of breath

A

CYSTIC FIBROSIS

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13
Q

Cystic fibrosis

Affected protein?

Loss of CFTR leads to defects in_____?

A

cystic fibrosis transmembrane conductance regulator (CFTR)

chloride transport

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14
Q

Familial hypercholesterolemia

Affected protein?

Loss of LDL receptor leads to_____

A

LDL receptor

hypercholesterolemia

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15
Q

Tay-Sachs disease

Protein affected?

Lack of the lysosomal enzyme leads to storage of______ in neurons

A

Hexosaminidase B- subunit

GM2 gangliosides

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16
Q

PHENYLKETONURIA

● Inborn Error of_____

● Autosomal____

● Deficiency of_____ Enzyme

● gene muration?

A

Metabolism

Recessive

Phenylalanine Hydroxylase (PAH)

PAH Gene (12q24) Mutation

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17
Q

● Severe mental retardation - 6 months

● Seizures

● Decreased hair/skin pigmentation

● Eczema

● Musty/Mousy urine odor

A

Phenylketonuria

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18
Q

PHENYLKETONURIA

● Inability to convert Phenylalanine to____

A

Tyrosine

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19
Q

Increased levels

excreted in urine and sweat

Circulated in the brain neurologic problems

A

Pku

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20
Q

Decreased Tyrosine levels decreased skin/hair pigmentation (Melanin precursor)

A

Phenylketonuria

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21
Q

● Autosomal Recessive Hemoglobinopathy

● Point mutations in Beta-Globin polymerization deoxygenated hemoglobin

A

SICKLE-CELL ANEMIA

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22
Q

○ ○ ○ ○

Red cell distortion
Hemolytic anemia
Microvascular
Obstruction
Ischemic tissue damage

A

SICKLE-CELL ANEMIA

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23
Q

• Autosomal recessive disorder resulting from a mutation in B-globin that causes deoxygenated hemoglobin to self-associate into long polymers that distort (sickle) the red cell

A

Sickle Cell Anemia

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24
Q

• Episodic lockage of vessels by sickle red cells causes pain crises and tissue infarction, particularly of the marrow and spleen

• Red cell membrane damage caused by repeated bouts of sickling results in a moderate to severe hemolytic anemia

A

Sickle Cell Anemia

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25
Q

● Familial Cancer syndrome w/ Cutaneous Manifestations

● Autosomal Recessive

A

XERODERMA PIGMENTOSUM

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26
Q

XERODERMA PIGMENTOSUM

A

XPA (9q22) Gene Mutation

27
Q

Impaired nucleotide excision repair

○

(+) melanoma / non-melanoma (BCC) skin cancers

A

XERODERMA PIGMENTOSUM

28
Q

Mucus production that blocks
ducts of certain glands and lung passages

A

Cf

29
Q

Excess accumulation of phenylala-
nine in blood, mental retardation

A

Pku

30
Q

Abnormal hemoglobin, blood
vessel blockage

A

Sca

31
Q

Lack of DNA repair enzymes,
sensitivity to light, skin cancer

A

Xp

32
Q

Improper metabolism in nerve cells,
death in childhood

A

Tsd

33
Q

● Most common form of skeletal dysplasia

● Major cause of Dwarfism

A

ACHONDROPLASIA

34
Q

ACHONDROPLASIA

● Autosomal____

● Retarded cartilage growth

● _______ mutations in Fibroblast Growth Factor Receptor 3 (FGFR3)

A

Dominant

Gain-of-function

35
Q

Brachydactyly

A

HOXD13 gene

36
Q

HOXD13 gene

A

Brachydactyly

37
Q

• Transcription factors: Homeobox genes, such as HOD /3, are frequently mutated in brachydactyly syndromes.

• Signal transduction molecules: FGFR3 mutations are responsible for achondroplasia and thanatophoric dysplasia, both of which manifest as dwarfism.

A

Hoxd13 Brachydactyly

38
Q

FAMILIAL HYPERCHOLESTEROLEMIA

● “_____Protein Disease”

● Autosomal____

● defective LDL receptor - loss of feedback control & elevated cholesterol levels

A

Receptor

Dominant

39
Q

● “Receptor Protein Disease”

● Autosomal Dominant

● defective LDL receptor - loss of feedback control & elevated cholesterol levels

A

FAMILIAL HYPERCHOLESTEROLEMIA

40
Q

FAMILIAL HYPERCHOLESTEROLEMIA

A

LDLR gene mutation (80-85%)

41
Q

● Connective tissue disorder

● Autosomal Dominant

● Loss of Fibrillin-1 causes the s/s through 2 mechanisms:

Loss of structural support (loss of microfibrils) and, Excessive TGF- signaling activation (high metalloprotease activity)

A

MARFAN SYNDROME

42
Q

MARFAN SYNDROME

●_____ tissue disorder

● Autosomal_____

● Loss of_____ causes the s/s through 2 mechanisms:

Loss of structural support (loss of microfibrils) and,

Excessive TGF- signaling activation (high metalloprotease activity)

A

Connective

Dominant

Fibrillin-1

43
Q

Gene mutation in Marfan syndrome

A

● FBN1 (15q21.1) gene missense mutation Fibrillin-1 Glycoprotein defect (misfolding)

44
Q

Skeletal abnormalities, ocular changes, and cardiovascular lesions

Lax ligaments, spinal deformities (kyphosis/scoliosis)
Ectopia Lentis MVP,
Aortic Dissection

A

MARFAN SYNDROME

45
Q

● Disorders of PORPHYRIN metabolism

● Autosomal Dominant

A

PORPHYRIA

46
Q

PORPHYRIA

● Disorders of_____ metabolism

● Autosomal____

● Porphyrin:

pigments present in hemoglobin, myoglobin, and cytochromes Essential for producing Heme

A

PORPHYRIN

Dominant

47
Q

Dwarfism associated with abnormalities in growth

A

Achondroplasia

48
Q

Malformed hands with shortened fingers

A

Brachydactyly

49
Q

Elevated cholesterol levels, cardio-
vascular disease

A

Familial hypercholesterolemia

50
Q

Connective tissue disorder, possible
aortic aneurysm

A

Marfan syndrome

51
Q

Inability to metabolize porphyrin, episodes of mental disturbance, such as hallucinations or paranoia

A

Porphyria

52
Q

● Most common hereditary disease associated with LIFE-THREATENING BLEEDING

● Deletions, nonsense mutations in Factor VIII

  • (-) Factor VIII synthesis

● X-Linked Recessive

Males and Homozygous Females affected

● Easy bruising

● Massive hemorrhage

● Hemarthroses

A

HEMOPHILIA A

53
Q

HEMOPHILIA A

● Most common hereditary disease associated with LIFE-THREATENING BLEEDING

●_______, nonsense mutations in Factor VIII

  • (-) Factor VIII synthesis
    ● X-Linked Recessive

Males and Homozygous Females affected

● Easy bruising

● Massive hemorrhage

● Hemarthroses

A

Deletions

54
Q

Inherited disorder of skeletal muscle

X-Linked Recessive

DMD gene deletion/frameshift mutation - (-) Dystrophin

Dystrophin:

Key component of Dystrophin Glycoprotein Complex (DGC)

Links the cytoskeleton and the BM outside the cell - provides myofiber stability

A

DUCHENNE MUSCULAR DYSTROPHY

55
Q

Inherited disorder of skeletal muscle

X-Linked Recessive

DMD gene deletion/frameshift mutation - (-) Dystrophin

Dystrophin:

Key component of Dystrophin Glycoprotein Complex (DGC)

Links the cytoskeleton and the BM outside the cell - provides myofiber stability

A

DUCHENNE MUSCULAR DYSTROPHY

56
Q

●

“Fatty Infiltration” of muscle fibers

●

Muscle weakness, pseudohypertrophy, joint contractures,

cardiomyopathy

A

DUCHENNE MUSCULAR DYSTROPHY

57
Q

● Trinucleotide repeat disorder

● X-linked Recessive

● Second most common cause of Mental Retardation

A

FRAGILE-X SYNDROME

58
Q

FRAGILE-X SYNDROME

● Trinucleotide repeat disorder

●_____

● Second most common cause of\__ Retardation

A

X-linked Recessive

Mental

59
Q

FGXM grne

A

FMR1 Gene (Xq27.3) trinucleotide mutation

“Fragile” site Loss of FMRP function

60
Q

● Neurodegenerative effects - MR

● Abnormal Facial Features

Long face w/ large mandible
Large everted ears

● Macro-orchidism (90%)

A

FRAGILE-X SYNDROME

61
Q

FRAGILE-X SYNDROME

● FMR1 gene

Located on______ Multiple tandem

Repeats of CGG Normal: 6-55 (ave. 29) repeats
Premutation: 55-200
Full Mutation: 250-4000 or greater

● Amplified CGG repeats

Carrier female > Carrier male

A

Xq27.3

62
Q

○
Regulates intracellular transport of polysomes to dendrites

Regulates translation

A

Familial Mental Retardation Protein (FMRP)

63
Q

Lack of HGPRT protein, mental
retardation, self-mutilation

A

Lesch-Nyhan syndrome

64
Q

Duchenne-type, progressive condition with muscle wasting

A

Muscular dystrophy

Cytogen (34 decks)

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