Spring Path Exam 2

Front 1

What is the missing enzyme in Tay Sachs

Back 1

Hexosaminadase A gene
Mutated HEXA allele occurs with insertion frame shift

Front 2

What is the inheritacne of Tay Scahs?

Back 2

AR

Front 3

What are the 4 trinucleotide repeat mutations/diseases?

Back 3

Huntingtons
Myotonivc Dystrophy
Friedrich ataxia
Fragile X

Front 4

What is blue sclerea and high fracture rated a clue for?
What is the inheritance?

Back 4

Osteogenisis imperfecta
A dominant neagtive mutation.
Child may also be deaf

Autosomal Dominant

Front 5

For the following disorder, what is the inheritance: Huntingtons

Back 5

AD

Front 6

For the following disorder, what is the inheritance: Neurofibromatosis

Back 6

AD

Front 7

For the following disorder, what is the inheritance: Myotonic Dystrophy

Back 7

AD

Front 8

For the following disorder, what is the inheritance: Tuberous Sclerosis

Back 8

AD

Front 9

For the following disorder, what is the inheritance: Poly Cycstic Kidney disease (Adult)

Back 9

AD

Front 10

For the following disorder, what is the inheritance: Wilms Tumor?

Back 10

AD

Front 11

For the following disorder, what is the inheritance: Familial Polyposis Coli

Back 11

AD

Front 12

For the following disorder, what is the inheritance: Marfans Syndrome

Back 12

AD

Front 13

For the following disorder, what is the inheritance: Ehlers-Danlos (some)

Back 13

AD

Front 14

For the following disorder, what is the inheritance: Osteogenisis Imperfecta types I-IV?

Back 14

AD

Front 15

For the following disorder, what is the inheritance: Achondroplasia

Back 15

AD

Front 16

For the following disorder, what is the inheritance: Familial hypercholesterolemia

Back 16

AD

Front 17

For the following disorder, what is the inheritance: Acute Intermittent porphyria

Back 17

AD

Front 18

For the following disorder, what is the inheritance: Hereditary Spherocytos

Back 18

AD

Front 19

For the following disorder, what is the inheritance: Von Willibrands Disease

Back 19

AD

Front 20

For the following disorder, what is the inheritance:

Back 20

AD

Front 21

What is true regarding the expression in homozygotes vs heterozygoes in Autosomal Recessive disorders?

Back 21

Homo= full expression
Hetero= Partial expression

Front 22

What type of defects are often seen with autosomal recessive inheritance patterns

Back 22

Enzyme defects

Front 23

For the following disorder, what is the inheritance pattern: Cycstic Fibrosis

Back 23

AR

Front 24

For the following disorder, what is the inheritance pattern: Phenylketoneuria

Back 24

AR

Front 25

For the following disorder, what is the inheritance pattern: Galactosemia

Back 25

AR

Front 26

For the following disorder, what is the inheritance pattern: Homocystineuria

Back 26

AR

Front 27

For the following disorder, what is the inheritance pattern: Lysosomal storage diseases

Back 27

AR

Front 28

For the following disorder, what is the inheritance pattern: a 1-antiytrypsin deficiency

Back 28

AR (1/7000 births)

Front 29

For the following disorder, what is the inheritance pattern: Wilsons Disease

Back 29

AR

Front 30

For the following disorder, what is the inheritance pattern: Hemochromatosis

Back 30

AR (1/1000)

Front 31

For the following disorder, what is the inheritance pattern: Glycogen Storage Disease

Back 31

AR

Front 32

For the following disorder, what is the inheritance pattern: Scikel Cell

Back 32

AR

Front 33

For the following disorder, what is the inheritance pattern: Thalassemias

Back 33

AR

Front 34

For the following disorder, what is the inheritance pattern: Congenital adrenal hyperplasia

Back 34

AR

Front 35

For the following disorder, what is the inheritance pattern: Ehlers Danlos (Some)

Back 35

AR (sorry, just realized it is both AR And AD depending on the type)

Front 36

For the following disorder, what is the inheritance pattern: Alkaptonuria

Back 36

AR

Front 37

For the following disorder, what is the inheritance pattern: Osteogenisis Imperfeta Type II

Back 37

AR

Front 38

For the following disorder, what is the inheritance pattern: Neuromuscular Atrophies ot Spinal muscle atrophy (Werdnig-Hoffman)

Back 38

AR

Front 39

For the following disorder, what is the inheritance pattern: Fredrich ataxia

Back 39

AR

Front 40

For the following disorder, what is the inheritance pattern: Albinism

Back 40

AR

Front 41

What chromosome always carries sex linked disorders?

Back 41

It is always X
Females are usually carriers and asymptomatic (rarely they are affected) and half of her sons will express the pheotype called HEMIzygous

Front 42

For the following disease, what is the inheritance pattern:
Chronic granulomatous disease

Back 42

X‐linked recessive

Front 43

For the following disease, what is the inheritance pattern: Duchene muscular dystrophy

Back 43

X‐linked recessive

Front 44

For the following disease, what is the inheritance pattern: Becker muscular dystorphy

Back 44

X‐linked recessive

Front 45

For the following disease, what is the inheritance pattern: testicular feminization

Back 45

X‐linked recessive

Front 46

For the following disease, what is the inheritance pattern: Sever Combined immunideficience

Back 46

X‐linked recessive

Front 47

For the following disease, what is the inheritance pattern: Burtons agammaglobulinemia

Back 47

X‐linked recessive

Front 48

For the following disease, what is the inheritance pattern: Fabray's disease

Back 48

X‐linked recessive

Front 49

For the following disease, what is the inheritance pattern: Hunters Syndrome

Back 49

X‐linked recessive

Front 50

For the following disease, what is the inheritance pattern: Lesch-Nyhan Syndrome

Back 50

X‐linked recessive

Front 51

For the following disease, what is the inheritance pattern: Diabetes Insipidus

Back 51

X‐linked recessive

Front 52

For the following disease, what is the inheritance pattern: Hemophilia A

Back 52

X‐linked recessive

Front 53

For the following disease, what is the inheritance pattern: Hemophilia B

Back 53

X‐linked recessive

Front 54

For the following disease, what is the inheritance pattern: G6PD

Back 54

X‐linked recessive

Front 55

For the following disease, what is the inheritance pattern: Fragile X Syndrome

Back 55

X‐linked recessive

Front 56

For the following disease, what is the inheritance pattern: Vitamin D Resistant Rickets

Back 56

X‐linked dominant

Front 57

What is the pathology/gene error in Vitamin D Resistant Rickets?

Back 57

Point mutation in PHEX (Phosphate-regulating endopeptidase gene) leads to failure of normal signaling and excessive excretion of phosphate

Front 58

What is the gene and function of the gene product affected in Marfans Syndrome?

Back 58

FIBN‐1 gene  (missense)
Codes for fibrillin‐1, constituent of micorfibrils which are the scaffolds for elastin deposits. Leads to abnormal vascular smooth muscle and bone growth

Front 59

Term for depressed sternum that can be seen in Marfans Syndrome?

Back 59

Pectus excavatum

Front 60

Term for pigeon breast deformity that can be seen in Marfans Syndrome?

Back 60

Pectus carinatum

Front 61

What is defective in the "Classical (Tpes I and II) Ehlers Danlos?

Back 61

Type V Collagen
AD

Front 62

What is defective in the Vascular Typr (iv) Ehlers-Danlos Syndrome?

Back 62

Type III Collagen is mutated (on COL3A1 gene)
-This is the one that is listed in First AID btw!)

Front 63

Which Ehlers-Danlos Tpye has a shorted life expectancy?

Back 63

The vascualr type with the problems with type III collagen and mutated COL3A1
Average age onl 48

Front 64

Lysosomal storage disease are usually autosomal recessive. What are the two exceptions?

Back 64

Fabry's disease
Hunters disease

They are both X-linked types

Front 65

What is the enzyme missing in Tay-sachs and what is accumulating?

Back 65

 Hexosaminidase A is deficient
GM 2 gangliosidosis accumilates in nervous system

Front 66

What are the buzzword findings with Tay-Sachs?

Back 66

Progressive neurodegeneration
developmental delay
Cherry red spot on macula
lysosomes with onion skinning
NO hepatomegaly (vs neiman picks which does)

Front 67

What is the enzyme missing in Niemann‐Pick disease, what is accumulating? Where does this occur?

Back 67

sphingomyelinase is deficient and sphingomyelin is accumulating
(Occurs in phagocytic cells and neurons)

Front 68

Tay-Sachs and Neimann Pick look very similar clinically. Based on clinical exam, what difference will you see?

Back 68

In Neumann-Pick Disease, the baby will have hepatomegaly. This won't occur with Tay-sacs.

Front 69

What is the difference between Neiman Pick type A or B

Back 69

A is severe and kiddos don't make it past 2 years old.
B type will have organomegaly without neurologicl problems but will survive into adulthood

Front 70

What is the gene defect and accumulation in Neimann-Pick type c?

Back 70

More common than A and B combined
NPC-1 gene is involved in cholesterol trafficking, so cholesterol accumulates. Often results in still birth, hydrops fetalis and neonatal hepititis

Front 71

What is the deficency and accumulation in Gaucher Disease?

Back 71

Deficiency of glucocerebrosidase
Accumulation of glucocerebroside/glucoceramide from cell membrane glycolipid breakdown

Front 72

What is type 2 gaucher?

Back 72

The severe infantile acute cerebral form
Involves CNS, convulsions, and mental deterioration

Front 73

What is type 3 gaucher

Back 73

Juvenile form
Intermediate in behavior affecting brain and viscera

Front 74

What is the deficiency in Fabrays disease?

Back 74

Deficiency in alpha galactosidase A
Accumulation Ceramide thrihexoside

For this, she said think vascular, vascular, vascular, vascular!)

Front 75

What are the unique features of Fabray's?

Back 75

Angiokeratomas
Hypohidrosis
Burning pain in extremities in childhood

Front 76

What is the pathology of (MPS) Mucopolysaccharidoses?

Back 76

Failure to degrade the chains (mucopolysaccahrides) results in accumulation in tissues
-Dermatan sulfate
-Heparan Sulfate
-Keteran silfate
-Chondroitin Sulfate

These are broken down into other types

Front 77

What is the deficiency and accumulation factor in Hurlers syndrome- MPS type I?

Back 77

Deficiency of α‐L‐iduronidase
ccumulation of dermatan sulfate and heparan sulfate in: 
Phagocytic cells, fibroblasts 
Neurons (causing mental retardation) Endothelium, vascular smooth muscle: subendothelial arterial deposits, esp. coronary   

Front 78

What is the deficiency and accumulation factor in Hunters syndrome- MPS type II?

Back 78

Deficiency of L‐iduronate sulfatase
Accumulation of heparan sulfate and dermatan sulfate

Front 79

What are the three key differences that Hunters has that Hurlers doesn't?

Back 79

‐ No cornea clouding
‐ Milder course
‐ Males only

Front 80

What is Morquio syndrome (MPS IV)?

Back 80

AR, accumulation of Keratin sulfate and chondroitin sulfate
Intelligens not effected, short stature and joint laxity with short trunk

shorter life span due to mechanical cor pulmonale

Front 81

What are the genetic defect and clinical features of type I glycogenosis?
(von Gierke)

Back 81

glucose‐6 phosphatase deficient in cytosol
• Clinical characteristics • Clinical characteristics
Hepatic/renal enlargement
Hypoglycemia
Huperuricemia (gout)
Xanthomas
Bleeding from platelet dysfunction
Glycogen in vacuoles are PAS+ and in cytosol!

Front 82

What are the deficiency and clinical features of Type III glycogenosis, Cori disease?

Back 82

Deficiency  of debranching enzyme
• Accumulation of glycogen in liver heart, muscle

Front 83

What is the deficiency in McArdles?

Back 83

Type V disease, myopathic form
Deficiency in muscle phosphorylase

Front 84

What type of glycogen storage disease is Pompe's? What is the enzyme that is dysdunctional?

Back 84

Type II
Lysosomal alpha-1-4-glucosidase (acid maltase) is deficient
Glycogen builds in liver, heart and skeletal muscle

MASSIVE cardiomegaly is the clue!

Front 85

What is the enzyme deficient and accumulation product with Alkaptonuria (Ochronosis)

Back 85

Deficiency of homogentisic oxidase
Homogentisic acid accumulates
(deposits in collagen and cartilage)

Front 86

What is the defective chromosome and tumor suppressor in Neurofibromatosis type I?

Back 86

Mutation is in Tumor supressor NF-1
Chromosome 17

Neurobibromin down regulares p21 ras oncogene

Front 87

Lisch nodules =

Back 87

Neurofibromatosis Type 1 (not seen in type 2!)

Front 88

Neurofibromatosis Type 2, 
major characteristics:

Back 88

AD; Multiple schwannomas, Cafe au lait spots Bilateral acoustic neuromas; 
meningiomas meningiomas
• No Lisch nodule