Diseases

Front 1

Osteomalacia:

Back 1

Cause:
-Vitamin D deficiency in adults.

Symptoms:
-Softening of the bones due to defective bone mineralization

Front 2

Rickets

Back 2

Cause:
-Deficiency of either Vitamin D, calcium, or phosphate in children.

Pathogenesis:
-Poor bone calcification

Symptoms:
-Softening of bones that can lead to deformities and fractures.

Front 3

Paget's disease of the bone

aka Osteodystrophia deformans

Back 3

Cause:
Viral or genetic.

Pathogenesis:
Abnormal bone remodeling where osteoid production is more rapid than mineralization.

Symptoms:
Bone shape changes with time, and can become either weak or abnormally thick.

Front 4

Osteoporosis

Back 4

Cause:
Calcium deficiency

Pathogenesis:
Osteoclast activity (bone resorption) exceeds osteoblast activity (bone formation)

Symptoms:
Weak bones due to poor low mineral content in bone, and net loss of bone from the body.

Front 5

Osteoarthritis
&
Rheumatoid arthritis

Back 5

Cause:
-Autoimmune disease for rhematoid arthritis
-mechanical stress and aging for osteoarthritis

Pathogenesis:
Complex...

Symptoms:
-inflammation and deterioration of joints

Front 6

Dyskeratosis congenita

Back 6

Cause:
Genetic

Pathogenesis:
Poor telomerase maintenance

Symptoms:
Premature aging

Front 7

Zellweger syndrome

Back 7

Cause:
Congenital

Pathogenesis:
Reduction or absence of peroxisomes means liver, kidney, and brain cells cannot beta-oxidize (break down) long chain fatty acids.

Symptoms:
Lack of myelination means nervous system is affected. The first signs include poor brain and muscle development.

Front 8

I-cell disease
(Inclusion cell disease)

Back 8

Cause:
Genetic. Part of the Lysosomal Storage Disorder family (which includes Tay-Sachs)

Pathogenesis:
Lack of Mannose-6-Phosphatase (M6P) means that the Golgi is unable to target lysosomal enzymes to lysosomes. This results in an accumulation of junk-filled lysosomes that are then exocytosed by the cell.

These exocytosed bodies are called Inclusion bodies.

Symptoms:
All kinds of awfulness, but mostly failure to thrive and death during early childhood.

Front 9

Pompe's disease
aka
Glycogen Storage Disease type II

Back 9

Cause:
Genetic. It's a Lysosomal Storage Disorder.

Pathogenesis:
Lack of certain lysosomal enzyme prevents the breakdown of glycogen.

Symptoms:
Buildup of glycogen causes myopathy (weakening of muscle). Particularly myopathy of cardiac and skeletal muscle.

Front 10

Leber's optic neuropathy

Back 10

Cause:
Maternal inheritance (mitochondrial disease).

Pathogenesis:
Mitochondria are unable to perform oxidative phosphorylation.

Symptoms:
Loss of vision

Front 11

X-linked Adrenoleukodystrophy

Back 11

Cause: X-linked peroxisomal disorder

Pathogenesis: Disrupted fatty acid metabolism resulting in lack of myelin production

Symptoms: Ataxia, seizures, auditory and visual degeneration

Front 12

Tay-Sachs

Back 12

Cause: Lysosomal, Autosomal recessive inheritance resulting in lack of hexosaminaminidase A

Pathogenesis: Failure to break down fatty acids resulting in neural accumulation of gangliosides

Symptoms: Muscle atrophy, lack of sensory function, paralysis

Front 13

Cori's disease
aka
Glycogen Storage Disease type III

Back 13

Cause:
Autosomal recessive metabolic disorder affecting glycogen breakdown.

Pathogenesis:
cannot de-branch glycogen, thus glucose cannot be released.

Symptoms:
-Failure to thrive
-hypoglycemia
-hepatomegaly
-cardiomyopathy

Front 14

Emery-Dreifuss muscular dystrophy

Back 14

Cause:
Genetic

Pathogenesis:
alleles that code for proteins found in the nuclear envelope are affected.

Symptoms:
Somehow the abnormal nuclear envelope leads to muscular dystrophy

Front 15

Cranio-Lenticulo sutural dysplasia (CLSD)

Back 15

Cause:
Genetic disease involving COPII

Pathogenesis:
genetic defect leads to abnormal ER-to-Golgi trafficking, which leads to decreased Collagen.

Symptoms:
leads to skeletal defects including an elongated face.

Front 16

Aminoglycoside associated deafness

Back 16

Cause:
maternal inheritance of mtRNA or mrRNA.

Pathogenesis:
Mutation in mitochondria causes increased susceptibility to the accumulation of certain antibiotics in the ear (i.e. increases ototoxicity). This kills sensory cells in ear.

Symptoms:
deafness

Front 17

Hutchinson-Gilford Progeria Syndrome (HGPS)

Back 17

Cause:
Autosomal dominant inheritance of a mutated Lamin A gene

Pathogenesis:
The point mutation results in unusable Lamin A protein, which is used in the nuclear envelope.

Symptoms:
Accelerated aging (progeria)

Front 18

Fragile X syndrome

Back 18

Cause:
expansion of a single trinucleotide (CGG) sequence on the X chromosome.

Pathogenesis:
a fragile X chromosome results in all kinds of defects...

Symptoms:
-mental retardation
-elongated features

Front 19

Patau Syndrome
aka
Trisomy 13
aka
Trisomy D

Back 19

Cause:
Trisomy of chromosome 13

Pathogenesis:
complex

Symptoms:
-mental retardation
-cleft palate
-clenched fist
-polydactyly

Front 20

Thalassemia

Back 20

Cause:
Genetic. Frameshift or nonsense mutation in b globin gene.

Pathogenesis:
mutation results in truncated protein that then interferes with other chains.

Symptoms:
Anemia

Front 21

Sickle Cell Anemia

Back 21

Cause:
Mutation in the b globin chain (glu->val). Autosomal recessive

Pathogenesis:
altered beta globin crystallizes out. RBCs get stuck in capillaries and lyse easily.

Symptoms:
Anemia

Front 22

Spina bifida

Back 22

Cause:
neural tube closure defect, associated with not enough folic acid during early pregnancy

Pathogenesis:
see above

Symptoms:
Anatomical defect of the lower spine.

Front 23

Anencephaly

Back 23

Cause:
superior neural tube closure defect, associated with not enough folic acid during pregnancy

Pathogenesis:
see above

Symptoms:
no brain

Front 24

Xeroderma pigmentosum

Back 24

Cause:
autosomal recessive

Pathogenesis:
DNA cross links from UV exposure cannot be repaired.

Symptoms:
Skin is super sensitive to light. High chance of skin cancer.

Front 25

Down syndrome
aka
trisomy 21

Back 25

Cause:
Genetic. Three chromosome 21's

Pathogenesis:
Complex

Symptoms:
-Mental retardation
-FLK

Front 26

Edward's Syndrome
aka
triomsy 18

Back 26

Cause:
Genetic. Extra chromsome 18

Pathogenesis:
complex

Symptoms:
Very low rate of survival due to severe heart and kidney defects, among other things.

Front 27

Turner's Syndrome

Back 27

Cause:
Part or all of an X chromosome is missing in females (in males this results in a nonviable embryo)

Pathogenesis:
complex

Symptoms:
-short stature
-infertility
-dampened sex characteristics such as small breasts

Front 28

Triple X syndrome
aka
trisomy X syndrome

Back 28

Cause:
Genetic. Trisomy X.

Pathogenesis:
complex

Symptoms:
-infertility
-tall stature
-slightly higher than average chance of mental retardation
-otherwise normal development

Front 29

Klinefelter's syndrome

Back 29

Cause:
Genetic. XXY sex chromosomes

Pathogenesis:
complex

Symptoms:
infertility

Front 30

XYY syndrome

Back 30

Cause:
XYY chromosomes

Pathogenesis:
complex

Symptoms:
-increased odds of learning disability
-otherwise typical male, including fertility

Front 31

Duchenne muscular dystrophy

Back 31

Cause:
Recessive X-linked

Pathogenesis:
-Cytoskeleton of muscle fibers cannot bind to basal lamina. Stress of muscle contraction leads to muscle damage.

Symptoms:
-worsening muscular dystrophy, leading to death

Front 32

Primary ciliary dyskinesia
aka
Kartagener Syndrome

Back 32

Cause:
autosomal recessive genetic disorder

Pathogenesis:
-disorder causes defective dynein motor protein to be synthesized, which results in improper cilia function

Symptoms:
-lack of functional cilia means mucus is not moved efficiently, which leads to respiratory problems

Front 33

Glycogen Storage Disease type V
aka
McArdle's syndrome

Back 33

Cause:
autosomal recessive

Pathogenesis:
-genetic defect leads to myophosphorylase deficiency
-myophosphorylase is needed to debranch glycogen in muscle cells.

Symptoms:
-Muscle weakness
-Cramps