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23 General Pathology > 8/21 - Genetic Disorders > Flashcards

8/21 - Genetic Disorders Flashcards

1
Q

what are disorders associated w/ defects in enzymes

A

lysosomal and glycogen storage disease

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2
Q

what are examples of lysosomal diseases

A
  1. Tay Sachs
  2. Niemann Pick
  3. Gaucher
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3
Q

what disease:

Inherited diseases leading to defective
lysosomal enzyme functions giving rise to
accumulations and storage of complex
substrates in the lysosomes and defects in
autophagy resulting in cellular injury

A

lysosomal storage disease

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4
Q

is lysosomal storage disease AR or AD

A

metabolic defect = AR
not metabolic (enzymes) = AD

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5
Q

enzyme disorder that causes Tay-Sachs

A

Hexosaminidase

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6
Q

enzyme disorder that causes Gaucher

A

glucocerebrosidase (beta-glucosidase)

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7
Q

enzyme disorder that causes Niemann-Pick

A

sphingomyelinase

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8
Q

what disease is caused by inability to metabolize
gangliosides due to lack of the a-subunit of
lysosomal hexosaminidase

A

tay-sachs

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9
Q

what disease:

Gangliosides accumulate in the CNS and cause
severe intellectual disability, blindness,
motor weakness, and death by 2-3 years of
age

A

tay-sachs

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10
Q

is tay-sachs AD or AR

A

AR

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11
Q

what disease is caused by deficiency of sphingomyelinase

A

niemann pick

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12
Q

what type of niemann pick:

accumluation of sphingomyelin in the nervous system causes neurological damage

A

severe Type A

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13
Q

lipids in ___ are stored in nervous system, liver, spleen, bone marrow, and lymph nodes, causing their enlargements

A

type A niemann pick

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14
Q

what type of niemann pick:

neurological damage is not present

A

type B

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15
Q

what disease:

Results from lack of lysosomal enzyme
glucocerebrosidase and accumulation of
glucocerebroside in mononuclear phagocytes

A

gaucher

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16
Q

what type of gaucher:

most common, affected phagocytes become enlarged (Gaucher cells) and accmulate in liver, spleen, and bone marrow causing hepatosplenomegaly and bone erosion

A

type I

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17
Q

what type of gaucher:

characterized by variable neuronal involvement

A

II and III

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18
Q

!B) Gaucher disease has strong involvement with what disease

A

Parkinson disease

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19
Q

glycogen storage disease (gycogenosis) is mostly located where

A

liver and muscles

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20
Q

what disease:

Inherited deficiency of enzyme involved in
glycogen metabolism can result in storage of
normal or abnormal forms of glycogen,
predominantly in liver or muscles, but also in
other tissues as well

A

glycogen storage disease, glycogenosis

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21
Q

is glycogen storage disease (glycogenosis) AD or AR

A

AR

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22
Q

! In the most common hepatic form (von Gierke
disease), liver cells store glycogen, because of
lack of ___; enlarged
liver and patients have hypoglycemia

A

hepatic glucose-6-phosphatase

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23
Q

In McArdle disease (myopathic form), there is
lack of ___ giving rise to
storage in skeletal muscles and cramps after exercise

A

muscle phosphorylase

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24
Q

what are cytogenic disorders involving autosomes

A
  1. down syndrome
  2. edward syndrome
  3. patau syndrome
25
Q

what disease:

associated w/ extra copy of genes on chromosome 21 (most commonly trisomy 21) and less frequently translocation of extra chromosomal material from chromosome 21 to other chromosomes

A

down syndrome

26
Q

maternal age as a strong influence on incidence of ___

A

trisomy 21/down syndrome

27
Q

! what disease:

Patients have severe intellectual disability,
flat facial profile, epicanthic fold, cardiac
malformations, higher risk of leukemia, and
infections, and premature development of
Alzheimer disease

A

down syndrome/trisomy 21

28
Q

oral manifestations of down syndrome

A
  1. open mouth with tendency of tongue protrusion
  2. mouth breathing w/ drooling
  3. increased perio disease
29
Q

is Trisomy 18/edwards syndrome mostly inherited or non inherited

A

not inherited

occurs as random events during formation of eggs and sperm; partial trisomy 18 can be inherited

30
Q

what diseaes:

Affected individuals often have slow growth before
birth (intrauterine growth retardation) and a low
birth weight

A

trisomy 18/edwards

31
Q

what disease:

They may have heart defects and abnormalities of other organs that develop before birth ; due to the presence of several life-threatening medical problems,
many individuals die before birth or within
their first month

A

trisomy 18/edwards

32
Q

what disease:

Serious genetic disorder in which an individual
has an additional copy of chromosome 13 in
some or all the body’s cells; most cases are not
inherited

A

patau

33
Q

what disease:

Individuals often have heart defects, brain or
spinal cord abnormalities, very small or poorly
developed eyes (microphthalmia), extra fingers
or toes, a cleft lip with or without cleft-palate
and weak muscle tone (hypotonia)

A

patau/trisomy 13

34
Q

Due to the presence of several life-threatening
medical problems, many infants with trisomy 13
die when?

A

within their first days or weeks of life

35
Q

what are cytogenic disorders involding sex chromosomes

A
  1. Klinefelter syndome
  2. Turner syndrome
36
Q

Genetic diseases associated with changes involving
the ___ chromosomes are far more common
than those related to autosomal aberrations

A

sex

37
Q

are imbalances of sex or autosomal chromosomes more tolerated

A

sex

38
Q

what disease:

Is a sex chromosome disorder in boys and men
that result from the presence of an extra X
chromosome in cells (46XXY)

A

Klinefelter

calvin KLEIN is a guy

39
Q

what disease:

At least 2 X and one or more Y chromosomes

A

klinefelter

40
Q

what disease:

Patients have testicular atrophy, sterility,
reduced body hair, gynecomastia, and
eunuchoid body habitus

A

klinefelter

41
Q

what is the most common cause of male sterility (problem in testicular formation)

A

klinefeler syndrome

42
Q

what disease:

Monosomy X chromosomal abnormality occurs as a
random event during the formation of reproductive
cells (eggs and sperm) in the affected person’s parent;
most cases are not inherited

A

turner syndrome

(tina TURNER is a GIRL)

43
Q

what is a chromosomal condition that affects development in females

A

turner syndrome

44
Q

what disease:

Short stature, webbing of the neck,
cardiovascular malformations, amenorrhea, lack
of secondary sex characteristics, and fibrotic
covaries

A

turner syndrome

45
Q

what is the most common feature of Turner Syndrome? what is this evident?

A

short stature by age 5

46
Q

do single-gene disorders w/ nonclassic inheritance follow mendellian genetics

A

NO

47
Q

what are diseases/disorders that do no follow classic mendelian principles

A
  1. diseases caused by trinucleotide-repeat mutations
  2. disorders associated w/ genomic imprinting
48
Q

what disease:

Is the prototype of the disease in which mutation is
characterized by a long repeating sequence of
three nucleotides

A

fragile X syndrome

49
Q

what is the second most common genetic cause of mental retardation after Down syndrome

A

fragile X syndrome

50
Q

fragile X is caused by trinucleotide mutation in what gene and lack of formation of what other gene?

A

familial mental retardation-1 (FMR-1) gene
causing loss-of-function of gene and lack of
formation of fragile X mental retardation protein (FMRP)

MR get it not MRS

51
Q

fragile x syndrome phenotype

A
  1. long face w/ large mandible
  2. large everted ears
  3. large testicles (macro-orchidism)

***everything is large except for brain

52
Q

what are disorders associated w/ genomi imprinting? what chromosome?

A
  1. prader-willi syndrome
  2. angelman syndrome

both are 15

53
Q

imprinting involves ___ of certain genes during gametogenesis

A

transcriptional silencing of paternal or maternal copies

54
Q

T/F: in genomic imprinting, the loss of functional allele by deletion results in diseases

A

TRUE

55
Q

is prader-willi syndrom iherited

A

no

56
Q

what disease:

paternal imprinting of chromsome 15

A

prader willi syndrom

p = paternal

57
Q

what disease:

  • mental retardation
  • obestiy
  • small hands/feet/gonads
  • low muscle tone, short stature
A

prader-willi syndrome

58
Q

what disease:

maternal imprinting chromosome 15

A

angelman syndrome

“women = maternal are angles” affects both M and F tho

59
Q

what disease:

  • mental retardation
  • seizures
  • ataxic gait
  • inappropriate laugher “happy puppet”
A

angelman syndrome

23 General Pathology (24 decks)

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