Instructions:

• Answer 50 questions in 15 minutes.
• If you are not ready to take this test, you can study here.
• Match each statement with the correct term.
• Don't refresh. All questions and answers are randomly picked and ordered every time you load a test.

This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.

1. Aut - dom; mutation in APC gene (chr 5 - 'polyp' has 5 letters). Colon covered with adenomatous polyps after puberty. Progresses to colon cancer unless resected
Familial adenomatous polyposis coli
Hunter's syndrome
Hypophosphatemic rickets
Vitamin D excess


2. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Familial hypercholesterolemia
Becker's muscular dystrophy
Neurofibromatosis type II
22q11 deletion syndromes


3. Aut - dom; deletion of VHL gene (tumor suppressor) on chr 3 (3 words for chr 3). Results in constitutive expression of HIF (transcription factor) - activation of angiogenic growth factors. Hemangioblastomas of retina / cerebellum / medulla - 50% get
Von Gierke's disease
von Hippel - Lindau disease
Alkaptonuria (ochronosis)
Biotin deficiency


4. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Vitamin B3 excess
Ornithine transcarbamoylase (OTC) deficiency
von Hippel - Lindau disease
Dry beriberi


5. Variable presentation - incl CATCH-22: Cleft palate - Abnormal facies - Thymic aplasia / T- cell deficiency - Cardiac defects - Hypocalcemia (2ary to parathyroid aplasia) - from microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th bra
Phenylketonuria
Huntington's disease
22q11 deletion syndromes
Multiple endocrine neoplasias


6. Mitochondrial inheritance (only transmitted via mom); degeneration of retinal ganglion cells / axons; acute loss of central vision

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7. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Marasmus
Familial adenomatous polyposis coli
Achondroplasia
Kartagener's syndrome


8. X- linked mutated dystrophin. Less severe than Duchenne's. Onset: adolescence - early adulthood.

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9. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Hypervitaminosis A
Vitamin A deficiency
Albinism
G6PD deficiency


10. Aut - rec galactokinase deficiency. Galactitol can accumulate if galactose present in diet; relatively mild. Galactose in blood / urine - infantile cataracts (may not track objects - develop social smile.
Cystic fibrosis
Niemann - Pick disease
Cri - du - chat syndrome
Galactokinase deficiency


11. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
McArdle's disease
Lactase deficiency
Adenosine deaminase deficiency


12. Aut - rec (CFTR gene - chr 7; CFTR channel secretes Cl - in lungs / GI - resorbes Cl - from sweat). Thick mucus - plugs lungs - pancreas - liver. Recurrent pulm infections (Pseudomonas - S aureus) - chronic bronchitis - bronchiectasis - pancreatic in
Homocystinuria
Alkaptonuria (ochronosis)
Gaucher's disease
Cystic fibrosis


13. Mutation in nucleotide excision repair proteins (endonucleases that release oligonucleotides containing damaged bases; DNApol + ligase fill in). Can't repair thymidine dimers (UV light). Dry skin with melanoma + other cancers ('children of the night'
DiGeorge syndrome
Patau's syndrome
Xeroderma pigmentosum
Cystinuria


14. Aut - dom - Fibrillin defect (scaffolding for elastin formation - stretchy protein for lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava). Connective tissue disorder: skeleton - heart - eyes affected. Tall - long extremities

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15. X- linked recessive - absence of HGPRT (hypoxanthine to IMP - guanine to GMP in purine salvage pathway). Can't salvage purines - so increased elimination = incr uric acid production. Retardation - self - mutilation - aggression - hyperuricemia - gout
Ehlers - Danlos syndrome
Cystic fibrosis
Lesch - Nyhan Syndrome
Zinc deficiency


16. Night blindness - dry skin
22q11 deletion syndromes
Vitamin A deficiency
G6PD deficiency
Ornithine transcarbamoylase (OTC) deficiency


17. Defects in type IV collagen synthesis; most common form X- linked recessive. Hereditary nephritis - deafness +/- ocular disturbances (type IV collagen important in BM of kidney - ears - eyes)

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18. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Tuberous sclerosis
Vitamin B5 deficiency
Arsenic toxicity
Phenylketonuria


19. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Fragile X
Phenylketonuria
Wet beriberi
Velocardiofacial syndrome


20. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Patau's syndrome
Neurofibromatosis type I (von Recklinghausen's disease)
Hereditary nonpolyposis colorectal cancer
McArdle's disease


21. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Achondroplasia
Hypertriglyceridemia
Metachromic leukodystrophy
Cori's disease


22. Macrocytic - megaloblastic anemia w/o neuro sx. #1 vitamin deficiency in USA; see in alcoholism / pregnancy (neural tube defects; supplement in early pregnancy) - also drugs (phenytoin - sulfas - MTX). From FOLiage (leafy greens) with small reserve p
Hyperchylomicronemia
Folic acid deficiency
Down syndrome
Xeroderma pigmentosum


23. Lysosomal storage disease (a sphingolipidosis) - Aut - rec deficiency of beta - glucocerebrosidase; glucocerebroside accumulates. Hepatosplenomegaly - aseptic necrosis of femur - bone crises - Gaucher's cells (macrophages that look like crumpled tiss

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24. Chr 15 - normally active parental (Prader = parental) allele deleted. MR - hyperphagia - obesity - hypogonadism - hypotonia. Other parent's allele inactivated / imprinted by methylation; can also be from uniparental disomy (2 copies of chr from 1 par
Adenosine deaminase deficiency
Prader - Willi syndrome
Kartagener's syndrome
Alkaptonuria (ochronosis)


25. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
Niemann - Pick disease
Tay- Sachs disease
Fabry's disease
Hyperammonemia


26. Microdeletion of short arm of chr 5: 46 -XX or XY - 5p -. Microcephaly - moderate/severe MR - high pitched crying/mewing (cry of the cat) - epicanthal folds - cardiac abnormalities
Down syndrome
Adenosine deaminase deficiency
Hurler's syndrome
Cri - du - chat syndrome


27. Aut - rec; can't convert orotic acid to UMP in de novo pyrimidine synthesis pathway (defect in orotic acid PRT or orotidine 5''- P- decarboxylase. Incr. orotic acid in urine - megaloblastic anemia (that doesn't get better with B12 / folate supplement
von Hippel - Lindau disease
Orotic aciduria
Albinism
Down syndrome


28. Lysosomal alpha -1 -4- glucosidase (acid maltase) deficiency (type II glycogen storage disease. Lysosomal degradation of glycogen impaired (1 -4 = linkages - not branches). Cardiomegaly - systemic findings (liver - muscle) leading to early death. Pom

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29. Aut - rec deficiency of homogentisic acid oxidase (degradative pathway of tyrosine) - benign disease. Dark connective tissue - pigmented sclera - urine turnes black on standing - may have debilitating arthralgias.
Patau's syndrome
Tuberous sclerosis
Alkaptonuria (ochronosis)
Huntington's disease


30. Glycogen debranching enzyme (alpha -1 -6 glucosidase) deficiency (type III glycogen storage disease). Like type I (Von Gierke's; glucose -6- phosphatase deficiency) but milder (gluconeogensis intact; normal blood lactate levels)

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31. Lysosomal storage disease (a sphingolipidosis). X- linked recessive (all other sphingolipidoses AR); deficiency of alpha - galactosidase A ceramide trihexoside accumulates. Peripheral neuropathy (hands / feet) - angiokeratomas - CV / renal disease

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32. Variable inheritance (locus heterogeneity); vs ocular albinism (x- linked recessive). Congenital deficiency of either 1) tyrosinase (can't make melanin from tyrosine; aut - rec); 2) defective tyrosine transporters (dec. tyrosine = dec. melanin); can
Classic galactosemia
Gaucher's disease
Cri - du - chat syndrome
Albinism


33. Type I familial dyslipidemia. Lipoprotein lipase deficiency or altered apolipoprotein C- II (LPL cofactor) = can't degrade TG circulating in chylomicrons - VLDLs. Increased chylomicrons - elevated cholesterol / TGs in blood
Leber's hereditary optic neuropathy
von Hippel - Lindau disease
Hyperchylomicronemia
Xeroderma pigmentosum


34. X- linked recessive. G6PD: G6P + NADP+ -> 6PG + NADPH; NADPH needed to reduce GSSG to 2GSH (glutathione reductase) for H2O2 to 2H2O conversion. Only pathway for making reduced GSH in RBC - so can't detoxify free radicals / peroxides (fava beans - sul
G6PD deficiency
Metachromic leukodystrophy
Vitamin B6 deficiency
Down syndrome


35. X- linked frame - shift mutation: deletion of dystrophin (DMD anchors mm fibers - esp. skeletal / cardiac. Longest gene: lots of spontaneous mutations). Accel. mm breakdown (weakness in pelvic girdle -> superiorly). Pseudohypertrophy of calf mm (fibr

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36. Scurvy - swollen gums - bruising - anemia - poor wound healing. In fruits / vegetables. Facilitates Fe absorption: keeps Fe2+ reduced state - more absorbable. Also involved in hydroxylation of proline - lysine in collagen synthesis; antioxident; need
Pyruvate dehydrogenase deficiency
Von Gierke's disease
Lactase deficiency
Vitamin C (ascorbic acid) deficiency


37. Glucose -6- phosphatase deficiency (type I glycogen storage disease). Can't de - plate G6P (glycogenolysis & gluconeogenesis). Severe fasting hypoglycemia - inc. glycogen in liver - inc. blood lactate (gluconeogenesis impaired) - hepatomegaly.

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38. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Lesch - Nyhan Syndrome
Huntington's disease
Phenylketonuria
Chediak - Higashi syndrome


39. Aut - rec deficiency of phenylalanine hydroxylase / THB (cofactor) - so can't convert phenylalanine to tyrosine. Results: accumulate phenylalanine (excess phenylketones in urine); tyrosine becomes essential AA. Dx: MR - growth retardation - seizures
Leber's hereditary optic neuropathy
Alport's syndrome
Phenylketonuria
Tay- Sachs disease


40. High output cardiac failure (dilated CM) - edema
Lactase deficiency
Edwards' syndrome
Wet beriberi
Homocystinuria


41. Cheilosis - corneal vascularization (the 2 C's)
Vitamin B3 excess
Hurler's syndrome
Fabry's disease
Vitamin B2 (riboflavin) deficiency


42. Aut - rec - defect in renal tubular AA transporter (cysteine - ornithine - lysine - arginine in renal PCT). inc. cystine (2 cysteines w/ disulfide bond) in urine --> cystine kidney stones (cystine staghorn calculi). Common (1:7000); Tx with acetazola
Vitamin A deficiency
Edwards' syndrome
Neurofibromatosis type I (von Recklinghausen's disease)
Cystinuria


43. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
APKD
Kartagener's syndrome
Arsenic toxicity
Vitamin B5 deficiency


44. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Familial adenomatous polyposis coli
Refsum disease
Hypervitaminosis A
Hypertriglyceridemia


45. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Vitamin B3 excess
Alkaptonuria (ochronosis)
Lactase deficiency
Hurler's syndrome


46. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Williams syndrome
Folic acid deficiency
Huntington's disease
Hereditary spherocytosis


47. Aut - dom; defective / absent LDL receptor. Elevated LDL. Heterozygotes (1:500) have cholesterol = 300 mg/dL. Homozygotes (rare) chol > 700 mg /dL - severe atherosclerotic dz early in life - tendon xanthomas (classically Achilles); may have MI < 20 y
Fragile X
Kwashiorkor
Familial hypercholesterolemia
Hyperchylomicronemia


48. Aut - dom; mutation on long arm of chr 17 (17 letters in 'von recklinghausen') cafe - au - lait spots - neuronal tumors - Lisch nodules (pigmented iris hamartomas). Skeletal disorders (eg scoliosis) - optic pathway gliomas - pheochromocytoma - increa

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49. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
DiGeorge syndrome
Hypophosphatemic rickets
Abetalipoproteinemia
Angelman's syndrome


50. Immobile cilia (dynein arm defect). Infertility (M/F; sperm immotile) - bronchiectasis - recurrent sinusitis (not pushing out bacteria / particles). A/W situs inversus

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