Path Ch 5 Genetic Disorders

Front 1

autosomal dominant disorders generally involve what kind of defect in proteins?

Back 1

loss of function mutation of regulatory proteins, gain of function mutations

Front 2

autosomal dominant disorders regarding nervous system

Back 2

huntington disease, neurofibromatosis, myotonic dystrophy, tuberous sclerosis

Front 3

autosomal dominant disorders regarding urinary system

Back 3

polycystic kidney disease

Front 4

autosomal dominant disorders regarding GI system

Back 4

familial polyposis coli

Front 5

autosomal dominant disorders regarding hematopoietic system

Back 5

hereditary spherocytosis, vWF disease

Front 6

autosomal dominant disorders regarding skeletal system

Back 6

Marfan syndrome, Ehlers Danlos, Osteogenesis imperfecta, achondroplasia

Front 7

autosomal dominant disorders regarding metabolic system

Back 7

familial hypercholesterolemia, acute intermittent porphyria

Front 8

paitents with polycystic kidney disease may have

Back 8

aneurysm of circle of Willis, cysts in liver, spleen, pancreas, lung

Front 9

mutations of what genes are affected for polycistic kidney disease?

Back 9

PKD1, PKD2

Front 10

degree of penetrance in autosomal dominant? AR?

Back 10

variety of penetrance in AD, all or none in AR

Front 11

early onset of disease, enzymes often affected, new onset mutations not generally seen, complete penetrance

Back 11

autosomal recessive

Front 12

autosomal recessive disorders regarding nervous system

Back 12

neurogenic muscular atrophies, friedreich ataxia, spinal muscular atrophy

Front 13

autosomal recessive disorders regarding endocrine system

Back 13

congenital adrenal hyperplasia

Front 14

autosomal recessive disorders regarding hematopoietic system

Back 14

sickle cell anemia, Thalassemias

Front 15

autosomal recessive disorders regarding skeletal system

Back 15

Ehler danlose(some variants), alkaptonuria

Front 16

autosomal recessive disorders regarding metabolic system

Back 16

CF, PKU, galactosemia, homocystinuria, lysosomal storage diseases, a1-antitrypsin def, wilson disease, glycogen storgae, hemochromatosis

Front 17

proteins often affected, penetrance variable, disease may present later in life

Back 17

autosomal dominant

Front 18

X linked disorders

Back 18

duchenne muscular dystrophy, Fragile X, DI, G6PD def, hemophilia

Front 19

28 yr female hydrops fetalis, chronic anemia, Hb barts Ided(gamma globin)

Back 19

alpha thalassemia

Front 20

complications of thalassemia

Back 20

skeletal abnormalities, anemia, hydrops fetalis

Front 21

most common cause of familial mental retardation

Back 21

fragile X syndrome

Front 22

18month old w/ large head, developmental delays, depressed nasal bridge, open mouth, tongue protruding, noisy breathing, hepatomegaly, skeletal abnormalities

Back 22

hurlers syndrome

Front 23

group of disorders where an enzyme defect results in accumulation of an insoluble metabolit within lysosome and results in normal cell fcn

Back 23

lysosomal storage diseases

Front 24

features of lysosomal storage diseases

Back 24

course facial features, cornea clouding, joint stiffness, mental retardation

Front 25

accumulation of glycosminoglycans in various organs can lead to what physical findings?

Back 25

HSM, skeletal deformities, valvular lesions, subendothelial arterial deposits

Front 26

Hurler syndrome is accumulation of what enzyme

Back 26

mucopolysaccharide-dermatan sulfate, heparan sulfate

Front 27

inheritance pattern and etiology of Hurler syndrome

Back 27

AR, deficient alpha L iduronidase

Front 28

relentless motor and mental deterioration leading to flaccidity, blindness, dementia, death by 2-3 yrs of age

Back 28

Tay Sachs disease

Front 29

what enzyme is deficient in Tay Sachs

Back 29

hexosaminidase-a deficiency

Front 30

glucocerebroside accumulates in mononuclear phagocytes thruout body

Back 30

Gaucher Disease (type I)

Front 31

Tay Sachs presents with

Back 31

spleen, bone involvement (NO CNS), dementia, cherry red retina, blindness, muscular falccidity, death

Front 32

infant with HSM, failure to thrive, vomiting, fever, lymphadenopathy, psychomotor deterioration

Back 32

Niemann Pick disease

Front 33

what kind of accumulation does the liver biopsy show in someone with Niemann Pick disease?

Back 33

accumulation of sphingomyelin

Front 34

hepatosplenomegaly, renomegaly, hypoglycemia.

Back 34

glycogen storage disorders(Pompe, McArdles)

Front 35

enzyme def/accumulation of Pompes

Back 35

glucosidase. Glycogen

Front 36

enzyme def/accumulation of leukodystrophy

Back 36

arylsulfatase A. sulfatide

Front 37

enzyme def/accumulation of Krabbes

Back 37

glactosylceramidase. Galactocerebroside

Front 38

enzyme def/accumulation of Fabry

Back 38

a-galactosidase A. ceramide trihexoside

Front 39

enzyme def/accumulation of Gauchers

Back 39

glucocerebrosidase. Glucocerebroside

Front 40

enzyme def/accumulation of I-cell disease

Back 40

phosphorylating enzymes for mannose 6 phosphate. Mucopolysaccharide, glycolipid

Front 41

enzyme def/accumulation of Wolman disease

Back 41

acid lipase. Cholesterol esters, triglycerides

Front 42

48 yr old male well, some shoulder pain,mild hypertension. Dad died of MI. yellow patches around eyes, Achilles. DD?

Back 42

cardiac myopathy, clotting diseases, hemachromatosis, familial hypercholesterolemia

Front 43

one of the most common mendelian disorders

Back 43

familial hypercholesterolemia

Front 44

clinical signs of hyperlipidemia

Back 44

xanthelesmata, skin and tendon xanthoma, arcus cornealis. MI, atherosclerosis

Front 45

secondary causes of increased cholesterol include

Back 45

diet, hypothyroidism, liver disease, nephrotic syndrome, porphyria

Front 46

familial hypercholesterolemia results from mutations from which receptor?

Back 46

LDL receptor. Abnormal fcn of protein

Front 47

histologic sections from liver tissue in a patient with this disorder has cytoplasmic clearing, distended hepatocytes and Kupferr cells. No fibrosis

Back 47

hurlers syndrome

Front 48

intrauterine growth and mental retardation, muscular hypotonia, epicanthicfolds, abundant nect skin, CHD, intestinal stenosis, simian crease, clindodactyly of 5th finger

Back 48

trisomy 21 Down

Front 49

short neck, mental retardation, prominent occiput, hypotonia, limited hip movement, low set ears, small mouth, barrel chest, overlapping fingers, rocker bottom feet

Back 49

trisomy 18 Edwards

Front 50

intrauterine growth and mental retardation, midface defects, polydactyly, low dysmorphic ears, microcephaly, microphthalmia, rocker bottome, abnormal scrotum

Back 50

trisomy 13 Patau

Front 51

CNS anomalies most frequently seen in Trisomy 21

Back 51

decreased brain weight with delayed maturity. Early onset of Alzeheimer(APP), meningomyelocele

Front 52

GI anomalies most frequently seen in Trisomy 21

Back 52

Hirschsprung disease, duodenal atresia, esophageal atresia, anorectal malformations

Front 53

CV anomalies most frequently seen in Trisomy 21

Back 53

endocardial cushion defects, tetralogy of Fallot, ventricular septal defects

Front 54

GU anomalies most frequently seen in Trisomy 21

Back 54

male cryptorchidism, hydronephrosis, renal dysplasia, ureteropelvic junction strictures

Front 55

life threatening disease of trisomy 21 in infancy

Back 55

endocardial cushion defects, esophageal, duodenal atresia, immune sys deficiencies

Front 56

life threatening disease of trisomy 21 as they get older

Back 56

acute myelogenous leukemia(AML) alzeheimers(APP), DI, hypo/hyperthyroidism

Front 57

clinical features of Klinefelters

Back 57

tall male, long arms and legs, small testes, penis, lack secondary male sex-deep voice, pubic hair. Gynecomastia

Front 58

What abnormaity is seen on PE that is associated with infertility?

Back 58

varicocele. 40%

Front 59

infertility in men can be due to diseases affecting the testes such as

Back 59

infections, drug use, heat exposure, trauma, cryptochidism or endocrin(hypopituitarism)

Front 60

what is one of the most common causes of hypogonadism?

Back 60

klinefelter syndrome

Front 61

what hormone is consistenly elevated in Klinefelter syndrome

Back 61

FSH (follicle stimulating hormone). Testosterone is variably reduced

Front 62

increased risks in klinefelter?

Back 62

non seminomatous germ cell tumors of mediastinum, SLE, type II diabetes, mitral valve prolapse, breast cancer

Front 63

AR, classic inborn error of metabolism. Black urine. Pigment also in CT of sclera, cardiac valves, cartilage, joints.

Back 63

ochronosis

Front 64

what amino acids accumulate in ochronosis?

Back 64

phenylalanine, tyrosine

Front 65

what enzyme is lacking in ochronosis

Back 65

homogenistic oxidase leading to homogenistic acid

Front 66

pigment accumulation in ochronosis in articular surface of joints leads to

Back 66

decreased resiliency and cartilage becomes brittle and denuded

Front 67

3 major subtypes of glycogen storage disease

Back 67

hepatic(Von Gierke's), myopathic (McArdles), systemic (Pompes)