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Frank Review Course > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Connective Tissue Genetic Disorders Table

A
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2
Q

Marfan’s Syndrome

Connective Tissue

A

AD

fibrillin abnormalities

(some type I collagen)

FBN1 or TGF-BR2

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3
Q

Ehlers-Danlos Syndrome

A

AD (most common)

Defects in type I and III collagen

COL3A1-type 3

COL1A2-type 7

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4
Q

Homocystinuria

A

AR

Deficiency of the enzyme cystathionine beta-synthase

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5
Q

Muchopolysaccharidosis table:

A

All are AR, except Hunter (XR

alpha-L-iduronidase (Scheie and Hurler)

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6
Q

Hunter Syndrome

A

X-linked Recessive

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7
Q

Hurler’s syndrome

A

AR

deficiency of the enzyme alpha-l-iduronidase

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8
Q

Maroteaux-lamy syndrome

A

AR

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9
Q

Morquio Syndrome

A

AR

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10
Q

San Filippo Syndrome

A

AR

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11
Q

Scheie Syndrome

A

AR

Deficiency of the enzyme alpha-l-iduronidase

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12
Q

Muscular Dystrophies Table

A
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13
Q

Duchenne Muscular Dystrophy

A

XR

defect on the short arm of chromosome x

Dystrophin Gene

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14
Q

Becker Dystrophy

A

XR

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15
Q

Fascioscapulohumeral dystrophy

A

AD

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16
Q

Limb-girdle dystrophy

A

Ar

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17
Q

Steinert Disease

(myotonic dystrophy)

A

AD

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18
Q

Hematologic Disorders with Genetic components Table

A
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19
Q

Hemophilia

A

Xr

Hemophila A: Factor 8 deficiency

Hemophila B: Factor 9 deficiency

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20
Q

Sickle Cell Anemia

A

Ar

Hemoglobin abnormality

(Hemoglobin S presence)

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21
Q

Gaucher’s Disease

A

AR

deficient activity of the enzyme B-glucosidase

(glucocerebrosidase)

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22
Q

Hemochormatosis

A

Ar

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23
Q

Niemann-Pick Disease

A

Ar

accumulation of sphingomyelin in cellular lysosomes

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24
Q

Thallassemia

A

Ar

abnormal production of hemoglobin A

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25
Q

Von Willebrands Disease

A

AD

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26
Q

Chromosomal disorders with MSK abnormalities

A
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27
Q

Down Syndrome

A

Trisomy 21

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28
Q

Angelman Syndrome

A

Chromosome 15 abnormality

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29
Q

Edward Syndrome

A

trisomy of chromosome 18

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30
Q

Fragile X syndrome

A

x-linked trait

Xq27-28

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31
Q

Klinefelter Syndrome

A

XXY

an extra x chromosome in men/boys

32
Q

Langer-Geidion Syndrome

A

Sporadic mutation

Chromosome 8 abnormality

33
Q

Nail Patella Syndrome

34
Q

Patau Syndrome

A

trisomy of chromosome 13

35
Q

Turner Syndrome (XO)

A

one of the two chromosomes missing in affected girls and women

SHOX

36
Q

Neurologic Disorders with genetic components

37
Q

Charcot-Marie-Tooth Disease

A

AD

chromosome 17 defect for encoding peripheral myelin protein-22

PMP-22

38
Q

Congential insensitivity to pain

39
Q

Freidrich Ataxia

40
Q

Huntington disease

41
Q

Menkes Syndrome

A

Xr

inability to absorb and use copper

42
Q

Pelizaeus-Merzbacher disease

A

Xr

defect in the gene for proteolipid

43
Q

Spinal Muscular Atrophy

44
Q

Sturge-Weber Syndrome

A

Sporadic mutation

45
Q

Tay-Sachs disease

A

Ar

deficiency in the enzyme hex-osaminindase A

46
Q

Diseases associated with Neoplasias table:

47
Q

Ewing’s Sarcoma

A

11;22 translocation

EWS/Fl11 fusion gene

48
Q

Multipel Endocrine Neoplasia MEN

A

Type 1- AD- RET gene

Type 2-AD

Type 3-AD- Chromosome 10 abnormality

49
Q

Neurofibromatosis

type 1 and 2

A

AD

NF1-chromosome 17 defect-codes for neurofibromin

NF2: chromosome 22 defect

NF1

NF2

50
Q

Synovial Sarcoma

A

(x;18)

(p11;q1`1)

STT/SSX fusion gene

51
Q

Multiple Exostosis

A

AD

EXT1 (greater burden of disease with increased risk of malignant transformation)

EXT2/EXT3

52
Q

Malignant Hyperthermia

53
Q

Osteochondromatosis

54
Q

Postaxial polydactyly

55
Q

Camptodactyly

56
Q

Metabolic Bone Diseases

57
Q

Hereditary Vitamin D dependent Rickets

58
Q

Hypophosphatasia

A

Ar

PHEX gene

59
Q

Hypophosphatemic Rickets

Vitamin D resistant Rickets

60
Q

Osteogeneis Imperfecta

A

AD

Defect in type 1 collagen

COL 1A1, COL1A2

61
Q

Albright Hereditary osteodystrophy

(pseudohypoparathyroidism)

A

PTH has no effect at the target cells (kidney, bones and intestine

62
Q

Onchronosis

(Alkaptonuria)

A

Ar

defect in the homogentisic acid oxidase system

63
Q

Osteopetrosis

A

AD-mild tarda form

AR-infantile, Malignant

CLCN7, TC1RG1

64
Q

Dysplasia Genetic Conditions Table

65
Q

Achondroplasia

A

AD

defect in fibroblast growth factor receptor 3

FGF3R

66
Q

Diastrophic Dysplasia

A

Ar

mutation of a gene coding for a sulfate transport protein

DTDST

67
Q

Kneist Dysplasia

A

AD

Defect in type II Collagen

COL 2A1

68
Q

Laron Dysplasia

(pituitary Dwarfism)

A

Ar

defect in the growth hormone receptor

69
Q

McCune Albright Syndrome

Fibrous dysplasia

Cafe-Au lait spots

Precocious puberty

A

Germline defect in the GSA protein

Mutation of the GSA subunit of the receptor/adenylyl cyclase coupling G proteins

70
Q

Metaphyseal Chondrodysplasia

Jansen Form

A

AD

PTH, PTH related protein

71
Q

Metaphyseal Chondrodysplasia

Mckusick form

72
Q

Metaphyseal Chondrodysplasia

Schmid-Tarda form

A

AD

Defect in type 10 cartilage

COL 10A1

73
Q

Multiple Epiphyseal dysplasia

MED

A

AD

Cartilage oligomeric protein

COMP

74
Q

Spondyloepiphseal Dysplasia

A

AD

Defect in type II collagen

linked to Xp22, 12-p22.31 SEDL, COL2A1

75
Q

Apert Syndrome

76
Q

Cleidocranial Dysplasia

A

AD

mutation of a gene coding for a protein related to osteoblast function

CBFA1

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