Diseases

Front 1

Achondroplasia

Back 1

dwarfism with short limbs but normal axial skeleton

Hint 1

AD, advanced paternal age, FGF-R3 defect

Front 2

APKD

Back 2

Bilateral massive cysts (flank pn, hematuria, HTN, renal failure) -> berry aneurysms, mitral valve prolapse ***infantile form AR***

Hint 2

AD, APKD1 mutation (16 for 16 letters in polycysitic kidney)

Front 3

Familial Adenomatous Polyposis

Back 3

Covered w/ polyps post-puberty-> CANCER

Hint 3

AD- APC gene on Ch 5 (polyp)

Front 4

Familial hypercholesterolemia (type IIA)

Back 4

Cholesterol for hetero = 300 mg/dL, homo = 700+

tendon xanthomas (achilles), MI ~ 20 y/o

Hint 4

AD- defective/absent LDL receptor

Front 5

Hereditary hemorragic telangiectasia (Osler-Weber-Rendu syndrome

Back 5

Telangiectasia, epistaxis, arteriovenous malformations

Hint 5

AD, disorder of blood vessels

Front 6

Hereditary spherocytosis

Back 6

hemolytic anemia, increase MCHC (lots of Hb in each RBC), spleenectomy is curative

Hint 6

AD, spectrin or ankyrin defect

Front 7

Huntingtons

Back 7

depressoin, progressive demential, choreiform movements (dancing), caudate atrophy, low GABA and ACh (20-50 y/o)

Hint 7

AD, CAG repeat in Ch 4

Front 8

Marfans

Back 8

long limbed, hyperflexible, arachnodactyling (long fingers/toes) -> aortic incompetence and dissecting aneurysms, floppy mitral valve

Hint 8

AD, fibrilin gene mutation for elastin

Front 9

Multiple endocrine neoplasias

Back 9

I, II, and III are family of endocrine gland tumors (pancreas, parathyroid, pituitary, thyroid, adrenal medulla)

Hint 9

AD, II and III are ret gene

Front 10

Neurofibromatosis type 1 and 2

Back 10

cafe-au-lait spots, neural tumors,lisch nodules on eyes, also find scolisos, optic gliomas, pheochromocytomes, and tumors (bilateral acoustic neuroma in type 2)

Hint 10

AD, Ch 17 type 1 (von Recklinghausen has 17), Ch 22 for type 2

Front 11

von Hipple Lindau

Back 11

hemangioblastomas of retina/cerebellum/medulla, bilateral renal cell carcinomas ect

Hint 11

AD, VHL gene deletion (tumor supressor) on Ch 3 -> constitutive expresson of HIF -> angiogensis

(VHL has 3 words)

Front 12

Hemochromatosis

EDIT

Back 12

copper eyes, iron deposits, arthrisis,

Hint 12

AR

Front 13

ARPKD

Back 13

Cysts on infant kidneys

Hint 13

AR, infants need it real bad

Front 14

CF

Back 14

Bronchiectasis, male infertility from vas deferens defect, pancreatic insufficiency-> fat-malabsorbtion (Vit ADEK and steatorrhea, Dx w/ inc. Cl- in sweat test

Hint 14

AR, cholride transporter, CFTR on Ch 7 (secretes Cl- in lungs and GI, resorb from sweat)-> thick lung mucus plugs and inc Pseudomonas and S. aureus

Front 15

anion vs cation

Back 15

anion = +
cation = -

Hint 15

an = up
cat = down

Front 16

mucopolysaccharidoses

Back 16

EDIT

Hint 16

All AR (EXCEPT HUNTERS)

Front 17

thalassemias
edit

Back 17

blood

Hint 17

AR

Front 18

sphingolipidoses

Back 18

EDIT

Hint 18

AR- (EXCEPT FABRYS)

Front 19

Tx for Cystic Fibrosis Lung Dz

Back 19

N-acetylcysteine for which dz? (also tylenol overdose

Hint 19

This drug cleaves disulfide bonds for CF

Front 20

Albanism (melanocytes), alpha-1-antitrypsin (enzyme), glycogen storage dz (need transporter), sickle cell, PKU

Back 20

what kinds of diseases are usually more severe, often present in childhood

Hint 20

AR!

Front 21

X-linked recessive disorders: How to remember? what are they?

Back 21

Be Wise Fools GOLD Heeds False Hope dz's

Hint 21

Brutons agammaglobulinemia, Wiskott-Aldrich, Fragile X, Ocular albanism, Lesch-Nyhan, DMD (and Beckers), Hemophilia A+B, Fabry's and Hunters

Front 22

Bruton's agammaglobulinemia

Back 22

EDIT

Hint 22

X-recessive, EDIT

Front 23

Wiskott-Aldrich syndrome

Back 23

EDIT

Hint 23

X-recessive, EDIT

Front 24

Lesch-Nyhan Syndrome

Back 24

EDIT

Hint 24

X-recessive, EDIT

Front 25

DMD (and Beckers)

Back 25

Early pelvic girdle weakness-> pseudo-hypertrophy of calves, cardiac myopathy (GOWERS), Beckers is later onset (>> 5 y/o)

Hint 25

X-recessive, dystrophin gene
DMD is frameshift -> deletion
Beckers is mutation

Front 26

Hemophilia A+B

Back 26

EDIT

Hint 26

X-recessive, EDIT

Front 27

Fabry's

Back 27

EDIT

Hint 27

X-recessive, EDIT

Front 28

Hunter's

Back 28

EDIT

Hint 28

X-recessive, EDIT, glycogen storage DZ

Front 29

Fragile X

Back 29

Long face and ears, macro-orchidism, autism

Hint 29

X linked, 2nd most mental retardation behind Down syndrome, CGG repeat on, FMR1 gene, length = odds of getting it, stops MGluR5 receptor in brain

Front 30

Myotonic dystrophy

Back 30

Clumsiness, EDIT

Hint 30

length = severity of disorder

Front 31

Friedreich's ataxia

Back 31

EDIT

Hint 31

trinucleotide repeat

Front 32

Down syndrome

Back 32

epicanthial folds, flat faces, flat feet, simian crease in hand, toe gap, gonenital heart defect (ASD), increased ALL and Alzheimers

Hint 32

Trisomy 21 or robertsonian translocation (14;21), Dx w/ low alphaFP, high beta-HCG, low estriol, high inhibin A

Front 33

Edwards syndrome

Back 33

Clenched hands, small jaw, retardation, prominent occiput, heart defects, die at 1

Hint 33

Trisomy 18 (vote @ 18 for john edwards)

Front 34

Patau's syndrome

Back 34

Severe retardation, cleft-lip/palate, polydactyly and holoprosencephaly, death <1

Hint 34

Ch 13 (puberty)

Front 35

Paracentric vs Pericentric

Back 35

Para = away from center

Hint 35

Peri = around the center, involves centromere

Front 36

Cri-du-chat syndrome

Back 36

microcephaly, high-pitched crying, epicanthal folds, cardiac (cry of the cat)

Hint 36

Ch 5 microdeletion

Front 37

Williams syndrome

Back 37

elfin facies, retardation, extremely cheerful, CV problems

Hint 37

Ch 7 microdeletion (elastin gene) ROBBIN WILLIAMS

Front 38

Digeorge Syndrome

Back 38

Catch-22: cleft palate, abnormal faces, thymic aplasia (T cell deficient), cardiac defect, hypocalcemia 2' to parathyroid aplasia

Hint 38

22q11 deletion -> abbarant 3rd and 4th branchial pouch development

Front 39

Velocardiofacial syndreom

Back 39

Catch-22 but only palate, heart, and face defects

Hint 39

another 22q11 deletion syndrome