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COM MOD > Robbins Chapter 5 Tables > Flashcards

Robbins Chapter 5 Tables Flashcards

1
Q

Autosomal Dominant Disorders affecting the Nervous system (4)

A

Huntington disease
Neurofibromatosis
Myotonic dystrophy
Tuberous Sclerosis

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2
Q

Autosomal Dominant Disorders affecting the Urinary system (1)

A

Polycystic kidney disease

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3
Q

Autosomal Dominant Disorders affecting the GI system (1)

A

Familial polyposis coli

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4
Q

Autosomal Dominant Disorders affecting the Hematopoietic system (2)

A

Hereditary spherocytosis

Von Willebrand Disease

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5
Q

Autosomal Dominant Disorders affecting the Skeletal system (4)

A

Marfan Syndrome
Ehlers-Danlos Syndrome
Osteogenesis Imperfecta
Achondroplasia

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6
Q

Autosomal Dominant Disorders affecting the Metabolic system (2)

A

Familial Hypercholesterolemia

Acute Intermittent Porphyria

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7
Q

Autosomal Recessive Disorders affecting the Metabolic system (9)

A 
Cystic fibrosis
Phenylketonuria
Galactosemia
Homocystinuria
Lysosomal storage disease
a1-antitrypsin deficiency
Wilson disease
Hemochromatosis
Glycogen strorage diseases
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8
Q

Autosomal Recessive Disorders affecting the Hematopoietic system (2)

A

Sickle Cell anemia

Thalassemias

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9
Q

Autosomal Recessive Disorders affecting the Endocrine system (1)

A

Congenital adrenal hyperplasia

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10
Q

Autosomal Recessive Disorders affecting the Skeletal system (2)

A

Ehlers-Danlos syndrome

Alkaptonuria

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11
Q

Autosomal Recessive Disorders affecting the Nervous system (3)

A

Neurogenic muscular atrophies
Friedreich ataxia
Spinal muscular atrophy

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12
Q

X-linked Recessive Disorders affecting the Musculoskeletal system (1)

A

Duchenne muscular dystrophy

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13
Q

X-linked Recessive Disorders affecting the Blood system (3)

A

Hemophilia A and B
Chronic Granulomatous disease
Glucose-6-phosphate dehydrogenase deficiency

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14
Q

X-linked Recessive Disorders affecting the Immune system (2)

A

Agammaglobulinemia

Wiskott-Aldrich syndrome

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15
Q

X-linked Recessive Disorders affecting the Metabolic system (2)

A

Diabetes Insipidus

Lesch-Nyhan syndrome

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16
Q

X-linked Recessive Disorders affecting the Nervous system (1)

A

Fragile X Syndrome

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17
Q

Biochemical and Molecular basis for Phenylketonuria

A

enzyme problem: phenylalanine hydroxylase

splice-site mutation causing reduced amount of enzyme

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18
Q

Biochemical and Molecular basis for Tay-Sachs disease

A

enzyme problem: hexosminidase

splice-site mutation or frameshift mutation with stop codon causing reduced amount of enzyme

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19
Q

Biochemical and Molecular basis for Severe Combined Immunodeficiency

A

enzyme problem: adenosine deaminase

point mutations causing abnormal protein with reduced activity

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20
Q

Biochemical and Molecular basis for Emphysema and Liver disease

A

enzyme inhibitor problem: a1-antitrypsin

missense mutation causing impaired secretion from liver to serum

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21
Q

Biochemical and Molecular basis for Familial Hypercholesterolemia

A

receptor problem- LDL receptor

deletions, point mutations causing reduction of synthesis, transport to cell surface, or binding of LDL

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22
Q

Biochemical and Molecular basis for Vitamin D-resistant rickets

A

receptor problem- Vitamin D receptor

point mutations causing failure of normal signaling

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23
Q

Biochemical and Molecular basis for Alpha Thalassemia

A

transport of oxygen problem: hemoglobin

deletions causing reduced amount of oxygen transport

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24
Q

Biochemical and Molecular basis for Beta Thalassemia

A

transport of oxygen problem: hemoglobin

defective mRNA processing causing reduced amount of oxygen transport

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25
Q

Biochemical and Molecular basis for Sickle Cell Anemia

A

transport of oxygen problem: hemoglobin

point mutations causing abnormal structure of RBCs impairing oxygen transport

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26
Q

Biochemical and Molecular basis for Cystic Fibrosis

A

Ion channel transport problem: Cystic fibrosis transmembrane conductance regulator
deletions and other mutations causing nonfunctional or misfolded proteins

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27
Q

Biochemical and Molecular basis for Osteogenesis Imperfecta and Ehlers-Danlos syndromes

A

extracellular structural problem: collagen

deletions or point mutations cause reduced amount of normal collagen or normal amounts of defective collagen

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28
Q

Biochemical and Molecular basis for Marfan Syndrome

A

cell membrane structural problem: fibrillin

missense mutation

29
Q

Biochemical and Molecular basis for Duchenne/Becker muscular dystrophy

A

cell membrane structural problem: dystrophin

deletion with reduced synthesis

30
Q

Biochemical and Molecular basis for Hereditary spherocytosis

A

cell membrane structural problem: spectrin, ankyrin, or protein 4.1
heterogeneous molecular lesion

31
Q

Biochemical and Molecular basis for Hemophilia A

A

hemostasis problem: Factor VIII

deletions, insertions, nonsense mutations and others causing reduced synthesis or abnormal factor VIII

32
Q

Biochemical and Molecular basis for Hereditary Retinoblastoma

A

growth regulation problem: Rb protein

deletions

33
Q

Biochemical and Molecular basis for Neurofibromatosis Type 1

A

growth regulation problem: neurofibromin

heterogenous molecular lesion

34
Q

Classic EDS (I/II)

A

skin and joint hypermobility, atrophic scars, easy bruising
autosomal dominant
COL5A1 and COL5A2 gene defect

35
Q

Hypermobility EDS (III)

A

joint hypermobility, pain, dislocations
autosomal dominant
unknown gene defect

36
Q

Vascular EDS (V)

A

thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility
autosomal dominant
COL3A1 gene defect

37
Q

Kyphoscoliosis EDS (VI)

A

hypotonia, joint laxity, congenital scoliosis, ocular fragility
autosomal recessive
lysyl hydroxylase gene defect

38
Q

Arthrochalasia EDS (VIIa,b)

A

severe joint hypermobility, skin changes (mild), scoliosis, bruising
autosomal dominant
COL1A1 and COL1A2 gene defect

39
Q

Dermatosparaxis EDS (VIIc)

A

severe skin fragility, cutis laxa, brusing
autosomal recessive
procollagen N-peptidase gene defect

40
Q

Accumulation metabolite and enzyme deficiency for glycogenosis

A

Glycogen

alpha 1,4 glucosidase

41
Q

Sphingolipidoses- GM1 gangliosidosis

A

Type 1 and Type 2

42
Q

Accumulation metabolite and enzyme deficiency for Type 1 and Type 2 GM1 gangliosidosis

A

GM1 ganglioside, galactose-containing oligosaccharides

GM1 ganglioside beta galactosidase

43
Q

Spingolipidoses- GM2 gangliosidosis

A

Tay-Sachs disease
Sandhoff disease
GM2 gangliosidosis variant AB

44
Q

Accumulation metabolite and enzyme deficiency for Tay Sachs

A

GM2 ganglioside

Hemosaminidase alpha subunit

45
Q

Accumulation metabolite and enzyme deficiency for Sandhoff disease

A

GM2 ganglioside, globoside

Hexosaminidase beta subunit

46
Q

Sulfatidoses

A 
Metachromatic leukodystrophy
Multiple Sulfatase Deficiency
Krabbe disease
Fabry disease
Gaucher disease
Niemann-Pick disease: Type A and B
47
Q

Accumulation metabolite and enzyme deficiency for metachromatic leukodystrophy

A

sulfatide

arylsulfatase A

48
Q

Accumulation metabolite and enzyme deficiency for multiple sulfatase deficiency

A

sulfatide, steroid sulfate, heparen sulfate, dermatan sulfate
arylsulfatase A B C

49
Q

Accumulation metabolite and enzyme deficiency for Krabbe disease

A

Galactocerebroside

Galactosylceramidase

50
Q

Accumulation metabolite and enzyme deficiency for Fabry disease

A

ceramide trihexoside

alpha-galactosidase A

51
Q

Accumulation metabolite and enzyme deficiency for Gaucher disease

A

glucocerebroside

glucocerebrosidase

52
Q

Accumulation metabolite and enzyme deficiency for Niemann-Pick disease: types A and B

A

sphingomyelin

sphingomyleinase

53
Q

Mucopolysaccharidoses (MPSs)

A 
MPS I H (Hurler)
MPS II (Hunter)
54
Q

Accumulation metabolite and enzyme deficiency for MPS I H

A

dermatan sulfate, heparan sulfate

alpha-L-iduronidase

55
Q

Accumulation metabolite and enzyme deficiency for MPS II

A

dermatan sulfate, heparan sulfate

L-idornosulfate sultatase

56
Q

Mucolipidoses (MLs)

A

I-cell disease and pseudo-Hurler polydystrophy

57
Q

Accumulation metabolite and enzyme deficiency for I-cell disease and pseudo-Hurler polydystrophy

A

Mucopolysaccharide, glycolipid

Deficiency of phosphorylating enzymes essential for the formation of mannose-6-phosphate

58
Q

Enzyme deficiency in hepatic form of glycogenoses

A

glucose-6-phosphatase

59
Q

Morphologic changes in hepatic form of glycogenoses

A

hepatomegaly and renomegaly from accumulation of glycogen

60
Q

Clinical features of hepatic form of glycogenoses

A

failure to thrive
hypoglycemia
hyperlipidemia
bleeding from platelet dysfunction

61
Q

Enzyme deficiency in myopathic form of glycogenoses

A

Muscle phosphorylase

62
Q

Morphologic changes in myopathic form of glycogenoses

A

skeletal muscle only accumulates glycogen

63
Q

Clinical features of myopathic form of glycogenoses

A

painful cramps during exercise, fail of lactate level elevation during exercise

64
Q

Enzyme deficiency for Pompe disease (type II)

A

lysosomal glucosidase (acid maltase)

65
Q

Morphologic changes in Pompe disease of glycogenoses

A

cardiomegaly, hepatomegaly, skeletal muscle glycogen buildup

66
Q

Clinical features of Pompe disease of glycogenoses

A

massive cardiomegaly

67
Q

Specific type of hepatic type glycogenoses

A

hepatorenal– von Gierke disease (type I)

68
Q

Specific type of myopathic type of glycogenoses

A

McArdle disease (type V)

COM MOD (21 decks)

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