Diseases P1

Genetic

100

Karyotype (47,XXY)

Klinefelter Syndrome

200

This disease presents with elevated sweat chloride, frequent lung infections, difficulty clearing mucus and pancreatic insufficiency. What is the most common mutation for this condition?

F508del 

(Cystic Fibrosis)

300

This autosomal recessive disease presents with failure to thrive, developmental delay UV sensitivity, cataracts and a progeria like appearance

Cockayne Syndrome

400

This is disease is caused by a genetic defect in... 

DNA repair pathways.. specifically Nucleotide Excision Repair

500

Inheritance: AD (usually de novo)

Etiology: Lamin A Point Mutation

Presentation: age related changes in skin i.e loss of subcutaneous fat, joint contractures, bone abnormalities (premature aging syndrome)

Treatment: farnosyl transferase inhibitors

Hutchinson Gilford Progeria Syndrome

Blood

100

This is a disease caused by a single point mutation and is treated by... 

Gene therapy to increase expression of y globin in red blood cells

200

Interitance: X linked
Etiology:  impaired formation of NADPH.
Clinical Presentation: varies depending on residual enzyme activity
Severe: Chronic Hemolytic anemia, hemoglobinuria, jaundice
Acute hemolytic anemia to exposure to oxidants

Glucose 6 phosphate dehydrogenase deficiency 

300

Inheritance: AR

Etiology: mutation in beta globin gene 

Presentation: pale conjunctiva, microcytic anemia, chipmunk face

Treatment: depends on severity (none-transfusions-splenectomy, iron chelation therapy)

Beta Thalassemia

400

This disease primarily affects Red blood cells due to the lack of ATP from glycolysis. Causes hemolytic anemia, jaundice, enlarged spleen

Pyruvate Kinase Deficiency

500

This disease is caused by a deficiency in HMB synthase. This is induced by the 4 M's-meds, malnutrition, menstruation, maladies and ETOH

This is treated with repleting heme after an acute attack and down regulating ALA synthase. 

Acute Intermittent Porphyria

Metabolism

100

Presents with lighter skin and hair, rapid loss of intelligence during the first year of life. 

This disease is caused from the inability for PAH to catalyze this reaction

Conversion of phenylalanine to tyrosine

(PKU)

200

This is known as the Layser Fleischer Ring. This is a characteristic finding of what disease. 

Wilson's Disease

300

X linked recessive disorder that is caused by a deficiency in hypoxanthine-guaninephosphoribosyltransferase.  This disease is caused by an up regulation of what pathway

Synthesis of purines

Bonus Points: Lesch-Nyhan Syndrome

400

This is how to differentiate between a pyrimidine synthesis cycle defect or a urea cycle defect

Hint: difference between OTC deficiency and Orotic Aciduria 

Urea Cycle- increase orotic acid and increase ammonia

Pyrimidine Synthesis Cycle: just orotic acid 

500

This disease presents with growth failure and developmental delay, progressive neurological and neuromuscular degeneration. It can be caused by a genetic defect (X-Linked) or from a deficiency in cofactors. 

It can be diagnosed by the elevation of these labs..

Pyruvate, lactate/lactic acidosis, alanine 

I.e Pyruvate Dehydrogenase Complex deficiency 

Neuro/Mus

100

X linked disorder that causes progressive muscle weakness, Gower maneuver to stand up 

Duchenne's/Becker Muscular Dystrophy

200

Autoantibodies for cancer cells or autoimmune diseases that mimic Voltage gated calcium channels cause this disease. 

LEMS (Lambert Eaton)

300

Auto antibodies that attach nicotinic ACh receptors causing muscle weakness

Myasthenia Gravis 

400

Presents with elevation in the cerebrospinal fluid protein levels but NO elevated white blood cell count in CSF

Also-ascending symmetrical paresthesia and paralysis 

Guillain Barre

500

Inheritance: AR

Etiology: Mutation in SMN1 gene

Presentation: Progressive weakness due to loss of spinal cord neurons 

Spinal Muscular Atrophy

Lysosomal

100

Inheritance:AR

Etilogy: beta hexoaminidase A deficiency

Presentation: cherry red spot, progressive neurodegeneration

Tay-Sachs Disease 

Bonus Point: What the main difference between this and Niemann-Pick disease? 

200

This X linked disorder causes the condition above due to a deficiency in Alpha-galactosidase A

Fabry Disease 

300

Hunter and Hurler's syndrome cause a build up of what substance 

Dermatan Sulfate, heparan Sulfate 

400

Type 2 of this disease causes this presentation known as Collodion Baby. Additionally, this disease causes hepatosplenomegaly, pancytopenia and a specific type of macrophage 

Gaucher Disease 

500

This disease presents with a deficiency is what enzyme?

Sphingomyelinase 

Glycogen Storage

100

Presents 3-6 months of age with hepatomegaly, sever fasting hypoglycemia, protuberant abdomen poor growth. This is caused by a deficiency on glucose-6-phosphatase 

Von Gierke disease 

200

This is caused by a deficiency in the glycogen debrancher enzyme 

Cori Disease 

300

This presents with fasting hypoglycemia in infancy but No muscle weakness. Tolerance also seems to improve with age. This disease is also consider less severe than other GSDs 

Glycogen Storage Disease type 0

AKA Hepatic Glycogen Synthase Deficiency

400

This disease only affects muscle tissue Lab values show increased CPK and,+Myoglobinuria and increased muscle glycogen. It is caused by a defect in this enzyme

Muscle phosphorylase

Bonus Points (McArdle Disease)

500

Infantile onset presents with cardiomyopathy, muscular hypotonia feeding difficulties and failure to thrive. Lab values include increase CPK, no myoglobinuria and increased lysosomal glycogen

This disease is caused by a deficiency in which two enzymes

Lysosomal acid alpha glucosidase 

acid maltase enzyme 

Bonus Point: Pompe Disease 

Misc

100

Kids should be screened for these two familial cancer syndromes 

Familial Adenomatous Polyposis and Li Fraumeni Syndrome

200

Caused by a genetic defect that affects normal function of fibrillin. 

Individuals tend to be tall, slender, and with long limbs and digits. Tha fatigue rapidly during exercise 

Marfan Syndrom

300

Presents with soft stretchable skin, hypermobile joints, poorly healing wounds. This is caused by a defect in assembly of what type of connective tissue

Type 3 collagen (some more sever types have type 1 involvement)

Ehlers-danlos

400

This is a rare storage disease that is caused by a mutation that prevents the phosphorylation of mannose in the cis golgi 

I Cell Disease 

500

This disease presents with a defect in this type of cell. Presents with edema, proteinuria and hypoalbuminemia

Name organelle above and syndrome

Glomerulus, Nephrotic Syndrome