Diseases For Unit 2

Front 1

Osteogenesis Imperfecta

Back 1

Collagen Type 1, COLA1A1 (type 1) or COL1A1 and COL1A2 (type 3 and 4)

brittle bones, short stature, blue sclera

Front 2

Ehlers-Danos

Back 2

Collagen Type V (classic ED skin stretchy and abnormal wound healing, hypermobile joints)

Collagen Type III (vascular ED)

Front 3

Marfan

Back 3

Fibrillin 1 (ECM component)

Myopia, scoliosis, tall, lanky, aorta and valve problems

Front 4

Achondroplasia

Back 4

Fibroblast grwoth factor receptor 3

Short, normal intelligence, respiratory apnea, fertility problem

Front 5

Cranyosynostosis

Back 5

Fibroblast growth factor Receptor 1, 2, or 3 premature fusion of cranial sutures, broad digits, IC hypertension

Front 6

Friedrich's Ataxia

Back 6

GAA repeat, AR, loss of proprioception, cerebellum, muscle weakness

Front 7

Fragile X

Back 7

CGG repeat, X-linked

retardation, long face, long ears, delayed speech, behavior problems, stabismus

Front 8

Myotonic Distrophy

Back 8

CTG repeats, AD

muscle weakness, cardiomyopathy, balding

Front 9

Huntington's

Back 9

CAG repeat, AD, chorea, neurodegeneration, loss of GABAergic and cholinergic neurons

Front 10

Trisomy 13 (Patau's)

Back 10

Maternal nondisjunction or Robertsonian 13/14

Mental retardation, cleft lip, etc. Death in infancy or spontaneous abortion

Front 11

Trisomy 18 (Edward's)

Back 11

Maternal nondisjunction or mosaicism

Growth retardation and small birth rate. Death in infancy or abortion.

Front 12

Trisomy 21 (Down's)

Back 12

Maternal Meiosis 1 nondisjunction or translocation with 14

Furrowed tongue, flat occiput, mental retardation, heart defects, sterile

Front 13

XXY (Kleinfelter's)

Back 13

nondisjunction

Male phenotype with small testes, low testosterone, sterile. Tall, long arms sparse body hair. Learning disability

Front 14

XXX

Back 14

Nondisjunction

Female phenotype, fertile, slight mental disability.

Front 15

45X (Turner's)

Back 15

nondisjunction or loss of structurally abnormal X or Y. Or mosaicism of 46XX line.

Female with short stature and ovarian failure and infertile.

Front 16

Cri du Chat

Back 16

Chromosome 5 deletion of distal short arm. Mental retardation and cat like call

Front 17

DiGeorge syndrome

Back 17

deletion of chromsome 22. Palate abnormalities, tetralogy of fallot, hypocalcemia, learnign disability

Front 18

Prader-Willi

Back 18

Deletion of 15q on chromosome inhereited from father

Obesity, small hands and feet, hypogonadism

Front 19

Angelman

Back 19

Deletion of 15q on chormosome inherited from mother

Short stature, development delay, seizures, mental retardation, clumsry gait

Front 20

Williams Syndrome

Back 20

Chromsome 7 Elastin gene, dominant

Perorbital fullness, wide mouth, small widely spaced teeth, heart disease, developmental delay

Front 21

Leber Hereditary Optic Neuropathy (LHON)

Back 21

Bilateral, progressive visual failure. Degeneration of retinal ganglia and optic nerve. Cardiac/posture/movement problems.

Front 22

Myoclonic Epilepsy Ragged Red Fibers (MERRF)

Back 22

Muscle twitches, seizures, ataxia, dementia. Irregular shape and bloody red staining of muscle fibers.

Front 23

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like symptoms (MELAS)

Back 23

lactic acidosis, encephalopathy, seizures, dementia

Front 24

Kearns-Sayre Syndrome

Back 24

Progresive paralysis of eye muscles, Pigmentary degeneration of retina, hearing loss, ataxia around 20 yrs old

Front 25

Leigh Syndrome

Back 25

AR/mitochondrial, early childhood.

Lactic acidosis, feeding problems, seizures, extraoccular palsies, weakness. Death in 1-2.

Front 26

Duchenne/Becker

Back 26

DMD gene chromosome 21

X-linked recessive

Front 27

Limb Girdle MD

Back 27

sarcolemma proteins (link cytoskeleton to ECM) - AR or AD

muscle weakness or wasting at hips and shoulders

Front 28

Emery dreifuss MD

Back 28

Eremin and lamin A nuclear membrane proteins. X-linked or AR/AD.

Contractures at elbows and ankles. Cardiac disease