8/21 - Genetic Disorders

Question 1

what are disorders associated w/ defects in enzymes

Answer 1

lysosomal and glycogen storage disease

Question 2

what are examples of lysosomal diseases

Answer 2

1. Tay Sachs
2. Niemann Pick
3. Gaucher

Question 3

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

Answer 3

lysosomal storage disease

Question 4

is lysosomal storage disease AR or AD

Answer 4

metabolic defect = AR
not metabolic (enzymes) = AD

Question 5

enzyme disorder that causes Tay-Sachs

Answer 5

Hexosaminidase

Question 6

enzyme disorder that causes Gaucher

Answer 6

glucocerebrosidase (beta-glucosidase)

Question 7

enzyme disorder that causes Niemann-Pick

Answer 7

sphingomyelinase

Question 8

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

Answer 8

tay-sachs

Question 9

what disease:

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

Answer 9

tay-sachs

Question 10

is tay-sachs AD or AR

Answer 10

AR

Question 11

what disease is caused by deficiency of sphingomyelinase

Answer 11

niemann pick

Question 12

what type of niemann pick:

accumluation of sphingomyelin in the nervous system causes neurological damage

Answer 12

severe Type A

Question 13

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

Answer 13

type A niemann pick

Question 14

what type of niemann pick:

neurological damage is not present

Answer 14

type B

Question 15

what disease:

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

Answer 15

gaucher

Question 16

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

Answer 16

type I

Question 17

what type of gaucher:

characterized by variable neuronal involvement

Answer 17

II and III

Question 18

!B) Gaucher disease has strong involvement with what disease

Answer 18

Parkinson disease

Question 19

glycogen storage disease (gycogenosis) is mostly located where

Answer 19

liver and muscles

Question 20

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

Answer 20

glycogen storage disease, glycogenosis

Question 21

is glycogen storage disease (glycogenosis) AD or AR

Answer 21

AR

Question 22

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

Answer 22

hepatic glucose-6-phosphatase

Question 23

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

Answer 23

muscle phosphorylase

Question 24

what are cytogenic disorders involving autosomes

Answer 24

1. down syndrome
2. edward syndrome
3. patau syndrome

Question 25

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

Answer 25

down syndrome

Question 26

maternal age as a strong influence on incidence of ___

Answer 26

trisomy 21/down syndrome

Question 27

! 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

Answer 27

down syndrome/trisomy 21

Question 28

oral manifestations of down syndrome

Answer 28

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

Question 29

is Trisomy 18/edwards syndrome mostly inherited or non inherited

Answer 29

not inherited occurs as random events during formation of eggs and sperm; partial trisomy 18 can be inherited

Question 30

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

Answer 30

trisomy 18/edwards

Question 31

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

Answer 31

trisomy 18/edwards

Question 32

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

Answer 32

patau

Question 33

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)

Answer 33

patau/trisomy 13

Question 34

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

Answer 34

within their first days or weeks of life

Question 35

what are cytogenic disorders involding sex chromosomes

Answer 35

1. Klinefelter syndome 2. Turner syndrome

Question 36

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

Answer 36

sex

Question 37

are imbalances of sex or autosomal chromosomes more tolerated

Answer 37

sex

Question 38

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

Answer 38

Klinefelter calvin KLEIN is a guy

Question 39

what disease: At least 2 X and one or more Y chromosomes

Answer 39

klinefelter

Question 40

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

Answer 40

klinefelter

Question 41

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

Answer 41

klinefeler syndrome

Question 42

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

Answer 42

turner syndrome (tina TURNER is a GIRL)

Question 43

what is a chromosomal condition that affects development in females

Answer 43

turner syndrome

Question 44

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

Answer 44

turner syndrome

Question 45

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

Answer 45

short stature by age 5

Question 46

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

Answer 46

NO

Question 47

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

Answer 47

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

Question 48

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

Answer 48

fragile X syndrome

Question 49

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

Answer 49

fragile X syndrome

Question 50

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

Answer 50

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

Question 51

fragile x syndrome phenotype

Answer 51

1. long face w/ large mandible 2. large everted ears 3. large testicles (macro-orchidism) ***everything is large except for brain

Question 52

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

Answer 52

1. prader-willi syndrome 2. angelman syndrome both are 15

Question 53

imprinting involves ___ of certain genes during gametogenesis

Answer 53

transcriptional silencing of paternal or maternal copies

Question 54

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

Answer 54

TRUE

Question 55

is prader-willi syndrom iherited

Answer 55

no

Question 56

what disease: paternal imprinting of chromsome 15

Answer 56

prader willi syndrom p = paternal

Question 57

what disease: - mental retardation - obestiy - small hands/feet/gonads - low muscle tone, short stature

Answer 57

prader-willi syndrome

Question 58

what disease: maternal imprinting chromosome 15

Answer 58

angelman syndrome "women = maternal are angles" affects both M and F tho

Question 59

what disease: - mental retardation - seizures - ataxic gait - inappropriate laugher "happy puppet"

Answer 59

angelman syndrome