Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Neuro II > Genetic Diseases > Flashcards

Genetic Diseases Flashcards

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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Diabetes Mellitus

A

Diabetes Mellitus:
MF- Autoimmune

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Systemic Lupus

A

Systemic Lupus
MF- Autoimmune

autoimmune ORGAN FAILURE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Triplody

A

Triplody
IP: Euploidy
MG: 3 mutant sets of chromosomes

MULTIPLE MALFORMATIONS, large cystic placenta, HYDATIDIFORM MOLE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Down Syndrome

A

Downsyndrome
Aneuploidy
Trisomy 21

MENTAL RETARDATION, multiple malformations, congenital heart disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Edwards Syndrome

A

Edwards Syndrome
An
Trisomy 18

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Patau Syndrome

A

Patau Syndrome
An
Trisomy 13

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Turner Syndrome

A

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

UNDEVELOPED SECONDARY FEMALE CHARACTERISTICS, fetal lymphedema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Klinefelter Syndrome

A

Klinefelter Syndrome
An
XXY

Feminized male

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Chronic Myelogeneous Leukemia

A

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

LEUKEMIA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Burkitt Lymphoma

A

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

LYMPHOMA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

46 XY Females

A

46 XY Females
Ab- deletion (X)
SRY Deletion

FEMALE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

46 XX males

A

46 XX males
Ab- insertion (Y)
SRY insertion

MALE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Prader-Wili Syndrome

A

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

MENTAL RETARDATION, OBESITY, behavioral abdormalities

24
Q

Angelman syndrome

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
Q

DiGeorge Syndrome

A

DiGeorge Syndrome
MD
Deletion of band 22q11.2

thymus hypoplasia, hypocalcemia, CONOTRUNCAL HEART

26
Q

Williams Syndrome

A

Williams Syndrome
MD
Deletion of band 7q11.2 (elastin gene)

MENTAL RETARDATION, multiple malformations, arterial stenosus, loquacious personality, Elfin face, musical profiency

27
Q

True Hermaphrodites

A

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
Q

Congenital Adrenal Hyperplasia

A

Congenital Adrenal Hyperplasia
IP: AR
21-hydroxylase

46XX, AMBIGUOUS GENETALIA, ovaries- female pseudohermaphrodite

29
Q

Testicular Feminization Syndrome or Androgen Insensitivity Syndrome

A

Testicular Feminization Syndrome or Androgen Insensitivity Syndrome
XR
androgen receptor

46 XY- FEMALE BODY TYPE TESTICLES (male pheudohermaphrodite)

30
Q

Cystic Fibrosis

A

Cystic Fibrosis
IP: AR- Pleiotropic Heterogeneity
CFTR (systic fibrosis transmembrane regulator)

PULMONARY DEGENERATION, hypoglycemia, male sterility

31
Q

Sickle Cell Anemia

A

Sickle Cell Anemia
IP: AR- point mutation
MG: beta-globin

HEMOLYTIC ANEMIA, painful ischemia

32
Q

Tay-Sachs

A

Tay-Sachs
IP: AR
MG: hexosaminidase alpha subunit

NEUROGEGENERATION, seizures, blindness, inattentive, cherry red spot in retina

33
Q

Phenylketonuria

A

Phenylketonuria
IP: AR- Pleiotropic
MG: phenylalanine hydroxylase

MENTAL RTARDATION, hyperphenlyalaninemia, Mousy odor, SEIZURES

34
Q

Hurler Syndrome

A

Hurler Syndrome
IP: AR- Pleiotropic
MG: a-L-iduronidase

MENTAL RETARDATION, COURSE FACES, skeletal dysplasia, growth ceases age 3, mucopolysaccharide accumulation in lysosomes

35
Q

Xeroderma Pigmentosum

A

Xeroderma Pigmentosum
IP: AR- heterogeneity
UV Specific endonuclease, (plus at lease 7 other genes)

Malignant DERMAL CANCER from solar sensitivity

36
Q

alpha-Thalisemias

A

alpha-Thalisemias
IP: AR- heterogeneity
MG: alpha-globins (genotypic combinations of mut and WT alleles)

ANEMIA, small RBCs, Hydops fetalis

37
Q

beta-thalisemia

A

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
Q

Marfan Syndrome

A

Marfan Syndrome
AD- pleiotropic
Fibrillin-1

Tall stature, ARACHNODACTYLY, ectopia lentis, aortic dilation, scoliosis

39
Q

Familial Hypercholesterolemia

A

Familial Hypercholesterolemia
AD
LDL receptor

2x plasma cholesterol levels, Heart disease, atheroscllerosis, xanthomas

40
Q

Myotonic Muscular Dystrophy

A

Myotonic Muscular Dystrophy
AD- Anticipation
Myotonin-Protein Kinase

MUSCULAR DEGENERATION, myotonia

41
Q

Huntington Disease

A

Huntington Disease
AD- Anticipation
Huntington Gene

JERKY CHOREA MOVEMENTS, DEMENTIA, cholinergic and GABA-ergic neuron atrophy

42
Q

Achondroplasia

A

Achondroplasia
AD- pleiotropic
Fibroblast Growth Factor Receptor 3

SHORT ARMS AND LEGS, bow legs, lumbar lordosis, large head, Frontal bossing

43
Q

Hutchinson-Gilford Progeria

A

Hutchinson-Gilford Progeria
AD
Lamin (point mutation at splice site)

PREMATURE AGING, death by age 12

44
Q

Retinoblastoma

A

Retinoblastoma
AD- Tumor Suppressor
RB1

RETINAL TUMORS before age 5, strabismus, increased risk of various cancers later in life

45
Q

Neurofibromatosis Type I

A

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
Q

Neurofibromatosis Type II

A

Neurofibromatosis Type II
AD- Pleiotropic/Tumor Supressor
Schwannomin

Vestibular schwannomas (8th cranial nerve tumor) cataracts, few neurofibromas or Cafe-au-lait spots

47
Q

Neuroblastoma

A

Neuroblastoma
Gene amplification- Homogeneous Staining Region
NMYC (transcription factor)

autonomic NEUROECTODERMAL TUMOR (malignant)

48
Q

Red Green Color Blindness

A

Red Green Color Blindness
XR
opsin (red or green genes)

can’t detect red or green

49
Q

Hemophilia A

A

Hemophilia A
XR- heterogeneity
Factor VIII (mostly)

DEFICIENT CLOTTING, persistant bleeding and hemorrhage, painful degenerative joints

50
Q

Hemophilia B

A

Hemophilia B
XR heterogeneity
Factor IX

DEFICIENT CLOTTING, persistant bleeding and hemorrhage, painful degenerative joints

51
Q

Duchenne Muscular Dystrophy

A

Duchenne Muscular Dystrophy
XR
Dystrophin

MUSCULAR DEGENERATION, cardiomyopathy

52
Q

Glucose 6-phosphate Dehydrogenase Deficiency

A

Glucose 6-phosphate Dehydrogenase Deficiency
G6PD

hemolytic anemia

53
Q

Lesch-Nyhan Syndrome

A

Lesch-Nyhan Syndrome
XR
hypoxanthine guanine phosphoribosyltransferase

Mental Retardation, SELF MUTILATION, uncontrollable movements

54
Q

Fragile X syndrome

A

Fragile X syndrome
XD- AnticipationFMR-1 (RNA Binding protein)

MODERATE MENTAL RETARDATION, long face, male macroorchidism

55
Q

Penetrance

A

Penetrance is the fraction of individuals with a mutant genotype who manifest the mutant phenotype

56
Q

Pleiotropy

A

A single gene control multiple traits

Neuro II (12 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions