Genetics

Front 1

APKD

Back 1

always bilateral, massive enlargement of kidneys due to multiple large cysts
assoc with polycystic liver disease, berry aneurysms, mtiral valve prolapse
chromo 16

Front 2

Familiar hypercholesterolemia

Back 2

elevated LDL owing to defective or absent LDL receptor; severe atherosclerotic disease early in life, tendon xanthomas; MI before 20

Front 3

Marfans

Back 3

fibrillin gene mutation-->connective tissue disorders
skeletal abnormalities-tall with long extremities, pectus excavatum, hyperextensive joints, long tapering fingers and toes
CV- cystic medial necrosis of aorta-->aoritc incompetance and dissecting AA, floppy mitral vlave

Front 4

NF 1 (von Recklinghousens)

Back 4

cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), skeletal disorders, optic gliomas, PCC, increased tumor susceptibility
chromo 17

Front 5

NF 2

Back 5

bilateral accoustic neuroma, juvenile cataracts, NF 2 on chromo 22

Front 6

Tuberus sclerosis

Back 6

facial lesions, hypopigmented ash leaf spots on skin, cortical and retinal hamartomas, szs, MR, renal cysts, cardiac rhabdomyomas, incomplete penetrance, variable presentation

Front 7

VHL disease

Back 7

hemangioblastomas of retina/CBL/medulla, mutliple bilateral RCC
deletion of VHL gene on chromo 3
PCC, RCC

Front 8

Huntingtons

Back 8

depression, progressive dementia, choreiform movements, caudate atrophy, decreased GABA and ACh
chromo 4, triplet repeat disorder

Front 9

Cs of huntingtons

Back 9

Chorea
caudate atrophy
crazy (dementia)
decraesed ACh
chromo 4
cuarenta

Front 10

FAP

Back 10

colon becomes covered with adenomatous polyps after puberty; will get colon cancer
deletion in chromo 5, APC gene

Front 11

hereditary spherocytosis

Back 11

spheroid erythrocytes, hemolytic anemia, increased MCHC; splenectomy is curative
defect in spectrin
dx with osmotic fragility test

Front 12

Achrondroplasia

Back 12

AD cell signalling defect of FGF receptor 3; results in dwarfism, short limbs but head and trunk are normal size
advance paternal age

Front 13

ARD

Back 13

CF, albinism, AAT def, phenylketonuria, thalassemias, sickle cell anemias, glycogen storage diseases, mucopolysaccharidoses (except Hunters), sphingolipidoses (except Fabrys), infant PKD, hemochromatosis

Front 14

CF

Back 14

AR defect in CFTR on chromo 7; defective channel, very viscous secretions
get chronic bronchitis, brochiectasis, pancreatic insuff
Tx: N-acetylcysteine, keep lungs clear

Front 15

XRD

Back 15

Brutons, Wiskott Aldrich, Fragile X, G6PD def, Ocular albinism, Lesch-Nyhan, Duchennes, Hemophilia A and B, Fabrys, Hunters
Females rarely affected

Front 16

DMD

Back 16

deletion of dystrophin gene by frameshift mutation
early onset
pseudohypertrophy of the calf due to fibrofatty replacement of muscle, cardiac myopathy

Front 17

Beckers MD

Back 17

mutated dystrophin gene; less severe
later onset

Front 18

Fragile X

Back 18

affects methylation and expression of FMR1 (mRNA translation) gene; 2nd most common cause of MR
macroorchidism, long face with long jaw, large everted ears, autism
Triplet repeat: CGC

Front 19

Trinucleotide repeat disorders

Back 19

Huntingtons, myotonic dystrophy, Friedrich's ataxia, fragile X