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Neuro II > Genetic Diseases > Flashcards

Genetic Diseases Flashcards

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1
Q

Severe Combined Immuno-Deficiency Syndrome (SCIDS)
Inheritance Pattern:
Mutant Gene:

A

SCIDS:
IP: AR, XR- Heterogeneity
MG: adenosine deaminase (ADA), yC cytokine receptor

Impairment of humoral immune response due to T-cell deficiency (bubble boy)

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2
Q

Osteogenesis Imperfecta
IP:
MG:

A

Osteogenesis ImperfectaAR/AD Heterogeneity (Types I-VII)
IP: AR/AD Heterogeneity (Types I-VII)
MG Collagen (COL1A1, COL1A2)

BRITTLE BONES, short stature, blue eye sclera, postpubertal deafness

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3
Q

Ehlers-Danlos Syndromes

A

Ehlers-Danlos
IP: AR/AD/XR- Heterogeneity (types I-X)
MG: Collagens (COL5A1, 5A2, 3A1) lysyl oxidase, lysyl hydroxylase, MNK (Copper utilization)

LOOSE SKIN AND JOINTS, aneurysms, atrophic “cigarette paper” scars

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4
Q

Charcot-Marie-Tooth Disease
IP:
MG:

A

Charcot-Marie-Tooth Disease
IP: AD/AR/XR/XD heterogeneity, sex influenced
MG: myelin, lamin, connexin, and more

NEUROMUSCULAR DEGENERATION in distal limbs due to demylination

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5
Q

Familial Parkinson Disease

A

Familial Parkinson Disease
IP: AR/AD- Heterogenity
MG: alpha-synuclein, parkins

Lewy bodies, Loss of dopaminergic neurons in substantia nigra, IMPARED COGNITION, RIGID MUSCLES, TREMORS

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6
Q

Idiopathic Parkinsons
IP:
MG:

A

Idiopathic Parkinson Disease
IP: multifactorial
MG: alpha-synuclein, parkins

Lewy bodies, Loss of dopaminergic neurons in substantia nigra, IMPARED COGNITION, RIGID MUSCLES, TREMORS

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7
Q

Alzhemers
IP:
MG:

A

Alzhemers
IP: MF
MG: Beta-amyloid precursor protein (APP), apolipoprotein, presenilin-1 or 2

DEMENTIA, siexures, Amyloid plaques, and neurofibrillary tangles in brain

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8
Q

Diabetes Mellitus

A

Diabetes Mellitus:
MF- Autoimmune

HYPERGLYCEMIA, kETOACIDOSIS, beta-cell atrophy, neuropathy, retionpathy, kidney failure

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9
Q

Systemic Lupus

A

Systemic Lupus
MF- Autoimmune

autoimmune ORGAN FAILURE

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10
Q

Leber Optic Neuropathy
IP
MG

A

Leber Optic Neuropathy
IP: Mitochondrial (MT)- heterogeneity, sex influenced
MG: NADH dehydrogenase complex I subunits

BLINDNESS, telangiectatic microangiopathy, vascular tortuosity

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11
Q

Kern-Sayre Syndrome

A

Kern-Sayre Syndrome
IP: MT- Duplication deletion
MG: oxidative phosphorylation complex genes

RETINAL DEGENERATION, heart block, short stature, diabetes, deafness, thyroid disease

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12
Q

Triplody

A

Triplody
IP: Euploidy
MG: 3 mutant sets of chromosomes

MULTIPLE MALFORMATIONS, large cystic placenta, HYDATIDIFORM MOLE

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13
Q

Down Syndrome

A

Downsyndrome
Aneuploidy
Trisomy 21

MENTAL RETARDATION, multiple malformations, congenital heart disease

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14
Q

Edwards Syndrome

A

Edwards Syndrome
An
Trisomy 18

mental retardation, multiple malformations, 2nd digit overlaps 1st, INFANT MORTALITY

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15
Q

Patau Syndrome

A

Patau Syndrome
An
Trisomy 13

Mental retardation, multiple malformations, central facial defects, INFANT MORTALITY

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16
Q

Turner Syndrome

A

Turner Syndrome
An
XO (50% partial monosomies of short arm of X)

UNDEVELOPED SECONDARY FEMALE CHARACTERISTICS, fetal lymphedema

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17
Q

Klinefelter Syndrome

A

Klinefelter Syndrome
An
XXY

Feminized male

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18
Q

Cri du Chat

A

Cri du Chat
aberration- Deletion (5p)
MG: 5p (short arm of chromosome 5)

MENTAL RETARDATION, CAT LIKE CRY, multiple malformations

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19
Q

Chronic Myelogeneous Leukemia

A

Chronic Myelogeneous Leukemia
Ab- translocation
MG: t(9q; 22q) (abl/bcr fusion)
“Philadelphia chromosome”

LEUKEMIA

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20
Q

Burkitt Lymphoma

A

Burkitt Lymphoma
Ab/translocation
t(8q;14q) (c-myc driven by immunoglobulin promoter)

LYMPHOMA

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21
Q

46 XY Females

A

46 XY Females
Ab- deletion (X)
SRY Deletion

FEMALE

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22
Q

46 XX males

A

46 XX males
Ab- insertion (Y)
SRY insertion

MALE

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23
Q

Prader-Wili Syndrome

Study These Flashcards
A

Prader-Wili Syndrome
Microdeletion- Epigenic imprinting
Paternal deletion, band 15q11-q13
Uniparantal disomy 15

MENTAL RETARDATION, OBESITY, behavioral abdormalities

24
Q

Angelman syndrome

Study These Flashcards
A

Angelman syndrome
MD- Epigenic Imprinting
Maternal deletion band, band 15q11-q13 or Ubiquitin-protein ligase E3A gne

MENTAL RETARDATION, UNPROVOKED LAUGHTER, wide mouth, ataxic movements

25
DiGeorge Syndrome
DiGeorge Syndrome MD Deletion of band 22q11.2 thymus hypoplasia, hypocalcemia, CONOTRUNCAL HEART
26
Williams Syndrome
Williams Syndrome MD Deletion of band 7q11.2 (elastin gene) MENTAL RETARDATION, multiple malformations, arterial stenosus, loquacious personality, Elfin face, musical profiency
27
True Hermaphrodites
True Hermaphrodites Aberration or Chimera- Translocation or Embryonic Fusion MG: t(X;Y) or mosaics of XX and XY cells GONADS WITH BOTH MALE AND FEMALE STRUCTURES (pseudohermaphrodites-complete gonads (testes or ovaries) incongruent with secondary sexual characteristics)
28
Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia IP: AR 21-hydroxylase 46XX, AMBIGUOUS GENETALIA, ovaries- female pseudohermaphrodite
29
Testicular Feminization Syndrome or Androgen Insensitivity Syndrome
Testicular Feminization Syndrome or Androgen Insensitivity Syndrome XR androgen receptor 46 XY- FEMALE BODY TYPE TESTICLES (male pheudohermaphrodite)
30
Cystic Fibrosis
Cystic Fibrosis IP: AR- Pleiotropic Heterogeneity CFTR (systic fibrosis transmembrane regulator) PULMONARY DEGENERATION, hypoglycemia, male sterility
31
Sickle Cell Anemia
Sickle Cell Anemia IP: AR- point mutation MG: beta-globin HEMOLYTIC ANEMIA, painful ischemia
32
Tay-Sachs
Tay-Sachs IP: AR MG: hexosaminidase alpha subunit NEUROGEGENERATION, seizures, blindness, inattentive, cherry red spot in retina
33
Phenylketonuria
Phenylketonuria IP: AR- Pleiotropic MG: phenylalanine hydroxylase MENTAL RTARDATION, hyperphenlyalaninemia, Mousy odor, SEIZURES
34
Hurler Syndrome
Hurler Syndrome IP: AR- Pleiotropic MG: a-L-iduronidase MENTAL RETARDATION, COURSE FACES, skeletal dysplasia, growth ceases age 3, mucopolysaccharide accumulation in lysosomes
35
Xeroderma Pigmentosum
Xeroderma Pigmentosum IP: AR- heterogeneity UV Specific endonuclease, (plus at lease 7 other genes) Malignant DERMAL CANCER from solar sensitivity
36
alpha-Thalisemias
alpha-Thalisemias IP: AR- heterogeneity MG: alpha-globins (genotypic combinations of mut and WT alleles) ANEMIA, small RBCs, Hydops fetalis
37
beta-thalisemia
beta-Thalisemia IP: AR- heterogeneity MG: beta-globins (genotypic combinations of mut and WT alleles) ANEMIA, marrow hypertrophy, bone malformation, spleen and liver enlargement
38
Marfan Syndrome
Marfan Syndrome AD- pleiotropic Fibrillin-1 Tall stature, ARACHNODACTYLY, ectopia lentis, aortic dilation, scoliosis
39
Familial Hypercholesterolemia
Familial Hypercholesterolemia AD LDL receptor 2x plasma cholesterol levels, Heart disease, atheroscllerosis, xanthomas
40
Myotonic Muscular Dystrophy
Myotonic Muscular Dystrophy AD- Anticipation Myotonin-Protein Kinase MUSCULAR DEGENERATION, myotonia
41
Huntington Disease
Huntington Disease AD- Anticipation Huntington Gene JERKY CHOREA MOVEMENTS, DEMENTIA, cholinergic and GABA-ergic neuron atrophy
42
Achondroplasia
Achondroplasia AD- pleiotropic Fibroblast Growth Factor Receptor 3 SHORT ARMS AND LEGS, bow legs, lumbar lordosis, large head, Frontal bossing
43
Hutchinson-Gilford Progeria
Hutchinson-Gilford Progeria AD Lamin (point mutation at splice site) PREMATURE AGING, death by age 12
44
Retinoblastoma
Retinoblastoma AD- Tumor Suppressor RB1 RETINAL TUMORS before age 5, strabismus, increased risk of various cancers later in life
45
Neurofibromatosis Type I
Neurofibromatosis Type I AD- Pleiotropic/Tumor Supressor Neurofibromin (NF1) downregulates RAS NEUROBLASTOMAS (benign schwann cell tumors) CAFE-AU-LAIT SPOTS, Lisch nodules, displasia of sphenoid and long bones
46
Neurofibromatosis Type II
Neurofibromatosis Type II AD- Pleiotropic/Tumor Supressor Schwannomin Vestibular schwannomas (8th cranial nerve tumor) cataracts, few neurofibromas or Cafe-au-lait spots
47
Neuroblastoma
Neuroblastoma Gene amplification- Homogeneous Staining Region NMYC (transcription factor) autonomic NEUROECTODERMAL TUMOR (malignant)
48
Red Green Color Blindness
Red Green Color Blindness XR opsin (red or green genes) can't detect red or green
49
Hemophilia A
Hemophilia A XR- heterogeneity Factor VIII (mostly) DEFICIENT CLOTTING, persistant bleeding and hemorrhage, painful degenerative joints
50
Hemophilia B
Hemophilia B XR heterogeneity Factor IX DEFICIENT CLOTTING, persistant bleeding and hemorrhage, painful degenerative joints
51
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy XR Dystrophin MUSCULAR DEGENERATION, cardiomyopathy
52
Glucose 6-phosphate Dehydrogenase Deficiency
Glucose 6-phosphate Dehydrogenase Deficiency G6PD hemolytic anemia
53
Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome XR hypoxanthine guanine phosphoribosyltransferase Mental Retardation, SELF MUTILATION, uncontrollable movements
54
Fragile X syndrome
Fragile X syndrome XD- AnticipationFMR-1 (RNA Binding protein) MODERATE MENTAL RETARDATION, long face, male macroorchidism
55
Penetrance
Penetrance is the fraction of individuals with a mutant genotype who manifest the mutant phenotype
56
Pleiotropy
A single gene control multiple traits

Neuro II (12 decks)

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