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chapter 5 Flashcards

1
Q

nervous system autosomal dominant disorders

A

huntingtons
neruofibromatosis
myotonic dystrophy
tuberous sclerosis

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2
Q

urinary autosomal dominant disorders

A

polycystic kidney disease

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3
Q

GI autosomal dominant disorders

A

familial polyposis coli

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4
Q

hematopoietic autosomal dominant disorders

A

hereditary spherocytosis

vonWillebrand disease

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5
Q

skeletal autosomal dominant disorders

A

marfan’s syndrome
ehlers-danlos syndrome
osteogenesis imperfecta
achondroplasia

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6
Q

metabolic autosomal dominant disorders

A

familial hypercholsterolemia

acute intermittent porphyria

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7
Q

metabolic autosomal recessive disorders

A 
CF
phenylketonuria
galactosemia
homocystinuria
lysosomal storage diseases
alpha anti-trypsin deficiency
wilsons disease
hemochromocytosis
glycogen storage diseases
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8
Q

hematopoietic autosomal recessive disorders

A

sickle cell anemia

thalassemias

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9
Q

endocrine autosomal recessive disorders

A

congenital adrenal hyperplasia

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10
Q

skeletal autosomal recessive disorders

A

ehlers-danlos syndrome

alkaptonuria

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11
Q

nervous system autosomal recessive disorders

A

neurogenic muscular atrophies
friedreich ataxia
spinal muscular dystrophy

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12
Q

MSK x-linked recessive disorders

A

duchenne muscular dystophy

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13
Q

blood x-linked recessive disorders

A

hemophilia A and B
chronic granulomatous disease
glucose 6 phosphate dehydrogenase deficiency

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14
Q

immune x-linked recessive disorders

A

agammaglobulinemia

wiskott-aldrich syndrome

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15
Q

metabolic x-linked recessive disorders

A

DI

Lesch-Nyhan syndrome

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16
Q

nervous x-linked recessive disorders

A

fragile X-syndrome

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17
Q

marfans syndrome

A

disorder of CT, manifested by changes to skeleton, eyes, CV system
1/5000
70-80% familial
autosomal dominant

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18
Q

pathogenesis of marfans syndrome

A

defect in extracellular glycoprotein fibrillin-1 which is scaffolding for tropoelastin to form elastic fibers
FBN-1 mutated in marfans
loss of microfibrils excessively activate TGFbeta
trials to treat with TGFbeta Abs

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19
Q

FBN2

A

congenital contracturalarachnodactaly

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20
Q

eye marfan

A

bilateral subluxation of lens -> ectopialentis

so rare almost diagnostic of marfans

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21
Q

diagnosing marfans

A

must have major involvement of 2/4 organs plus minor involvement of 1

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22
Q

EDS

A

ehlers-danos syndrome
grp of disorders that result from defect in synthesis or structure of fibrillar collagne
skin, ligaments, and joints frequently involved
skin hyperextensible and joints hypermobile (contortionists)
joint dislocation and fragile skin

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23
Q

serious internal complications of EDS

A

ruptured colon or large aa
ocular fragility w/rupture of cornea and detached retina
diaphragmatic hernia

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24
Q

kymphoscoliosis type of EDS

A

most common autosomal recessive form
mutations in lysyl hydroxylase cannot hydroxylate lysine during collagen sythesis
cannot cross link collagen -> weak

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25
vascular type EDS
abnormalities in collagen II autosomal dominant severe defects in blood vessels and GI arthrochaliasia and dermatosparaxis
26
classic EDS
defect in collagen V
27
familial hypercholesterolemia
mutation in LDLR -> stuck in blood -> loss of feedback control 900+ mutations 5 classes
28
heterozygote for familial hypercholesterolemia
1/500 2-3x increase plasma cholesterol from birth tendinousxanthomas premature atherosclerosis
29
homozygote for familial hypercholesterolemia
5-6x increase in plasma cholesterol skin xanthomas coronary, cerebral, and peripheral atherosclerosis in the very young
30
class I
uncommon- null allele -> 0 LDLRs
31
class II
fairly common, R's accumulate in ER due to folding defects
32
class III
affect LDL binding domain of R
33
class IV
fail to localize to coated pits so LDL does not internalize
34
class V
will not dissociate once internalized, so degraded and Rs not recycled
35
statins
block HMGCoA reductase needed for cholesterol synthesis
36
Tay-sachs disease
GM2 gangliosidase accumulate due to deficiency in hexoamindase alpha subunit jews of eastern european descent
37
morphology of Tay-sachs disease
accumulates primarily in CNS, ANS, and retina neurons ballooned w/cytoplasmic vacuoles stains for fat (red o and sudan) cherry red spot in macula
38
clinical features of Tay-sachs disease
``` normal at birth, symptoms around 6 months motor and mental retardation cherry red spot by 1-2 years complete vegetative state 100+ mutations possible chaperon therapy in future ```
39
neimann pick diseases type A and B
accumulation of sphingomyelin due to deficiency in sphingomyelinase eastern european jews chrom 11p preferentially expressed from maternal chrom 100+ mutations
40
neimann pick type A
severe infantile form extensive neurological involvement marker of visceral accumulation protuberant abdomen due to hepatosplenomegaly progressive failure to thrive, vomiting, fever, lymphadenopathy, progressive wasting and death by 3
41
neimann pick type B
orangomegaly no neuro involvement survive into adulthood
42
morphology of neimann pick type A
``` missense mutation almost complete deficiency zebra bodies lipid laden phagocytic foam cells brain gyri sunken and sulci widened 1/3 have retinal cherry red spot ```
43
neimann pick type C
more common then A and B combined mutation in either NPC1 (95%) or 2 lipid transport defect cells accumulate cholesterol and gangliosides
44
clinical presentation of neimann pick C
hydropsfetalis, still birth, neonatal hepatitis, or chronic form of progressive neurologic damage ataxia, vertical supranuclear gaze palsy, dystonia, dyarthria, psychomotor regression
45
gaucher disease
cluster of autosomal recessive disorders mutation in gene for glucocerebrosidase most common lysosomal storage disease cannot cleave glucose from ceramide glucocerebrosidases accumulate in phagocytes and sometimes CNS in addition to accumulation have activation of macrophages -> IL1, 6 and TNF
46
gaucher disease type I
``` non-neuopathic 99% storage limited to mononuclear phagocytes throughout body w/o involving brain spleen and skeleton most affected onset early adulthood Jews decreased but detectable enzyme ```
47
gaucher disease type II
``` acute/neuropathic infantile acute cerebral pattern no predilection for jews zero enzyme hepatosplenomegaly progressive failure of CNS -> early death ```
48
gaucher disease type III
systemic characteristics of type I | progressive neurogenic disease beginning in adolescence/early adulthood
49
morphology of gauchers disease
distended phagocytes, called gaucher cells found in spleen, liver, BM, lymph, tonsils, thymus, peyers patches rarely appears in vacuoles, but have fibrillary type cytoplasm periodic acid schiff stain
50
mucopolysaccharidoases (MPS)
deficiencies in enzymes for degredation of mucoplysaccharides types I-VII autosomal recessive, except type II (hunters syndrome) which is x-linked
51
clinical presentation of MPS
coarse facial features, clouding of cornea, joint stiffness, mental retardation increased urinary excretion of MPS
52
morphology of MPS
``` accumulations in mononuclear phagocytes, endothelium, smooth m, fibroblasts distended cells w/clearing of cytoplasm acid-schiff stain skeletal abnormalities valvular lesions subendothelial arterial deposits ```
53
hepatic glycogen storage diseases
-VonGierke disease (type I) defect in glucose-6-phosphatase hepatic enlargement and hypoglycemia - defects in debranching enzymes
54
myopathic glycogen storage diseases
glycogen stored in mm mm weakness McArdles (V), mm phosphofructokinase (VII) mm cramps post exercise and lactate does not increase
55
things associated w/glycogen storage diseases
deficiencies of alpha-glucosidase/acid maltase lack of brr enzymes cardiomegaly
56
alkaptonura/ochronosis
lack of homogentisic oxidase cannot turn homogentisic acid into methyacetoacetic acid in tyrosine degredation homegentisic acid accumulates -> black urine
57
morphology of alkaptonura/ochronosis
homogentisic acid binds collagen in CT, tendons, cartilage, making them blue-black visible in eyes, nose, cheeks causes cartilage to become very brittle
58
paracentric
only involves 1 chromosome arm
59
pericentric
involves both chromosome arms
60
trisomy 21
``` down syndrome 1/700 can have normal chromosome number due to translocation usually due to meiotic non-disjunction can be due to robertsonian translocation 1% mosaics 40% develop alzheimers like degerenation ```
61
edwards
18
62
patau
13
63
degeorge syndome
22q11.2 thymic hypoplasia -> t cell immune deficiency hypoplasia of PT -> hypocalcemia
64
velocadiofacial syndrome
``` 22q11.2 facial abnormalities cleft palate CV abnormalities learning disabilities ```
65
chrom 22 deletions
at risk for psychotic illness
66
klinefelters
male hypogonadism due to 2X and 1Y mean IQ lower at risk for DMII and mitral valve prolapse increase in FSH, decrease in T, and increase in E 20x higher risk for breast cancer at risk for germ cell tumors and autoimmune dieases
67
turners syndrome
complete or partial monosomy of X -> hypogonadic female congenital heart disease neck webbing 1/3 amenoria cause hypothyroid glucose intolerance, obesity, insulin resistance, short stature (SHOX)
68
huntingtons
trinucleotide repeat in coding region, usually occurs during spermiogenesis
69
fragile x syndrome
trinucleotide repeat in non-coding region, usually occurs during oogenesis can be due to folate deficiency mentally retarded long face w/large mandible, large everted ears, large testicals, hyperextensible joints, increased arch palate, mitral valve prolapse
70
leber hereditary optic neuropathy
mitochondrial gene mutation bilateral central vision loss ages 15-30 cardiac conduction defects minor neurological manifestations
71
praderwilli syndrome
mental retardation, short, hypotonia, hyperphagia, obesity, small hands, feet, gonads deletion of 15q12 PATERNAL
72
angelmen syndrome
mental retardation, ataxia, inappropriate laughter, 'happy puppets' loss of ubiquitin ligase deletion of 15q12 MATERNAL

PBD1 (6 decks)

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