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MCM > Diseases For Final > Flashcards

Diseases For Final Flashcards

1
Q

Xeroderma Pigmentosum

A

Defect in NER complex, DNA Polymerase sigma, and DNA Ligase

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2
Q

Hereditary Nonpolyposis Colorectal Cancer

A

Defect in MER complex, Helicase/Endonuclease, DNA Polymerase delta, and DNA Ligase

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3
Q

BRCA 1/2 Breast Cancer

A

Defect in Recombination repair of non-homologous end joining and homologous recombination repair.
Defect in MER system affecting Exonucleases and DNA Polymerase

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4
Q

Cockayne Syndrome

A

Defect in transcription-coupled repair causing a stalled RNA Polymerase during transcription

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5
Q

Sickle Cell Anemia

A

Changes Glu (hydrophilic) for Val (hydrophobic)

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6
Q

Duchenne Muscular Dystrophy

A

Deletion to the Dystrophin gene leading to partial or non-functioning Dystrophin protein
X-linked recessive

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7
Q

Breast Cancer

A

HER2 dimerization

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8
Q

Glioblastoma

A

EGF receptor dimerization to create EGFRvIII

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9
Q

Chronic Myelogenous Leukemia (CML)

A

Translocation of ABL gene from Chr9 to Chr22 to form BCR-ABL gene that codes for a BCR-ABL fusion protein

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10
Q

Downs Syndrome

A

47XX,+21

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11
Q

Klinefelter Syndrome

A

47XXY

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12
Q

Turner Syndrome

A

45XO

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13
Q

Patau Syndrome

A

47XX,+13

Severe developmental abnormalities with death within 1 week

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14
Q

Familial Downs Syndrome

A

14:21 Translocation where a short arm is lost

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15
Q

Edwards Syndrome

A

47XX,+18

Abnormal development with death within 1 year

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16
Q

Prader-Willie Syndrome

A

Deletion of a paternal chromosome 15 with genomic imprinting

Short stature, hypotonia, obesity, and mild-moderate IQ disability

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17
Q

Angelman Syndrome

A

Deletion of the maternal chromosome 15 with genomic imprinting
Causes severe IQ disability, seizures, and ataxic gait

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18
Q

Hypophosphatemia

A

Low blood PO4 due to defective reabsorption causing a deficiency in Ca2+ absorption and producing Rickets
X-linked dominant

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19
Q

Leber’s Hereditary Optic Neuropathy (LHON)

A

MtDNA defect causing degeneration of retinal ganglion cells causing acute loss of central vision

20
Q

Mitocchondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

A

Affects brain and nervous system due to lactic acidosis

21
Q

I-cell Disease

A

Defective Mannose 6-P signal, preventing lysosomal proteins from reaching the lysosome

22
Q

Ehlers-Danlos Syndrome

A

Defect in lysyl hydroxylase causing overly flexible joints that may cause intestines to rupture
Mutation in collagen synthesis

23
Q

Epidermolysis Bullosa Simplex

A

Defect in lysyl hydroxylase causing blisters on skin

24
Q

Alzheimer’s Disease

A

Misfolding/Aggregation of Amyloid Beta peptides extracellularly and Hyperphosphorylation of Tau causing intracellular neurofibrillary tangles

25
Q

Parkinson’s Disease

A

Aggregation of alpha-synuclein (AS) proteins deposited as Lewy bodies in Substantia Nigra causing reduced Dopamine

26
Q

Huntington’s Disease

A

Mutation in Huntingtin gene resulting in expansion of CAG triplet repeats causing abnormal HTT protein leading to misfolding and aggregation in Basal Ganglia cells

27
Q

Crutzfeldt-Jacob Disease

A

Misfolding of prion proteins which is transmissible to others
Late stage involves mental deterioration blindness, weakness of extremities, and coma

28
Q

Acute Intermittent Porphyria

A

Porphobilinogen Deaminase defect
Hepatic Porphyria that is autosomal dominant
Abdominal Pain and Neurologic Dysfunction

29
Q

Congential Erythropoietic Porphyria

A

Uroporphyrinogen III Cosynthase defect
Erythropoietic Porphyria that is Autosomal Recessive
Causes photosensitivity — red color in urine and teeth

30
Q

Porphyria Cutanea Tarda

A

Uroporphyrinogen Decarboxylase defect
Hepatoerythropoietic Porphyria which is Autosomal Dominant
Most common porphyria in US causing photosensitivity

31
Q

Variegate Porphyria

A

Protoporphyrinogen Oxidase defect
Hepatic Porphyria that is Autosomal Dominant
Causes photosensitivity and neurologic symptoms with delayed development in children

32
Q

Type I Criggler-Najjar Sydrome

A

Complete absence of gene encoding UDP-Glucuronyl Transferase

Hyperbilirubinemia causing BR to accumulate in brains of babies producing encephalopathy (kernicterus) and brain damage

33
Q

Type II Criggler-Najjar Syndrome

A

Mutation in UDP-Glucuronyl Transferase but the gene is still there
10% enzyme activity

34
Q

Gilbert Syndrome

A

Reduced activity of UDP-Glucuronyl Transferase to 25% activity
Affecting 2-10% of the population

35
Q

Hepatitis

A

Increased levels of unconjugated and conjugated BR in blood

36
Q

Primary Polycythemia (Vera)

A

Genetically low EPO w/ extra RBCs

Double total blood volume with increased viscosity

37
Q

Secondary Polycythemia

A

Hypoxia w/ high EPO and extra RBCs

Cardiac output may be abnormal

38
Q

Physiologic Polycythemia

A

High altitude adaptation w/ extra RBCs

Normal cardiac output

39
Q

Methemoglobinemia

A

Fe2+ turning to Fe3+ due to increased met-hemoglobin
Leftward shift in ODC w/ decreased O2 availability to tissues
Blood is chocolate-colored and Caucasian skin appears blue

40
Q

Progeria

A

Caused by a break in the nuclear lamina intermediate filaments

41
Q

Scurvy

A

Loss of cofactors Ascorbate and Iron during hydroxylation of Collagen

42
Q

Hemochromatosis

A

HFE is mutated and Hepcidin expression cannot be induced

High blood Iron content

43
Q

Megaloblastic Macrocytic Anemia

A

Large RBCs due to deficiency in Vitamin B9 and B12

44
Q

Pernicious Anemia

A

Vitamin B12 deficiency due to a lack of Intrinsic Factor

45
Q

Hereditary Spherocytosis

A

Affects Ankyrin complex and defective anchor points

Produces spherical erythrocytes

46
Q

Hereditary Elliptocytosis

A

Spectrin-Spectrin lateral bonds and spectrin-ankyrin-band 4.1 protein junctions are defective
Produces elliptical erythrocytes

MCM (5 decks)

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