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. Cheilosis - corneal vascularization (the 2 C's)
Arsenic toxicity
Vitamin B2 (riboflavin) deficiency
Vitamin B6 deficiency
Velocardiofacial syndrome


2. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Neurofibromatosis type II
Maple syrup urine disease
Williams syndrome
Fructosouria


3. Brittle bone disease; genetic bone disorder. Variety of gene defects. Type II fatal in utero - neonatal. Most common form: AD with abnormal type I collagen (bone): multiple fractures w/ minimal trauma (e.g. during birth) - blue sclerae (translucent c
G6PD deficiency
Osteogenesis imperfecta
Hereditary spherocytosis
Down syndrome


4. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Von Gierke's disease
Huntington's disease
APKD
Metachromic leukodystrophy


5. Trisomy 13 (P = puberty age) - 1:15 -000. Severe MR - rockerbottom feet - congenital heart disease. Vs. Edwards': cleft lip / Palate - holoProsencephaly - Polydactyly (P's) - micropthalmia - microcephaly. Death w/in 1 yr

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6. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Vitamin D deficiency
DiGeorge syndrome
Vitamin A deficiency
Hyperchylomicronemia


7. 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
Cri - du - chat syndrome
Hereditary spherocytosis
Down syndrome
Vitamin B12 deficiency


8. Lysosomal storage disease (a mucopolysaccharidosis). Aut - rec deficiency of alpha - L- iduronidase; heparan sulfate - dermatan sulfate accumulate. Developmental delay - gargoylism (thickened gingiva + upturned nose) - airway obstruction - corneal cl

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9. 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'
Xeroderma pigmentosum
Cri - du - chat syndrome
Krabbe's disease
Velocardiofacial syndrome


10. X- linked dominant disorder (M/F offspring of affected mom can be affected; all female offspring of affected father diseased). Inc. phosphate wasting at proximal tubule; rickets - like presentation
Homocystinuria
Tay- Sachs disease
Hypophosphatemic rickets
Pompe's disease


11. 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
Tuberous sclerosis
Prader - Willi syndrome
Hurler's syndrome
Hyperammonemia


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
Maple syrup urine disease
Abetalipoproteinemia
Cystic fibrosis
Pyruvate dehydrogenase deficiency


13. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Vitamin D deficiency
Familial hypercholesterolemia
Velocardiofacial syndrome
Kartagener's syndrome


14. 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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15. 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
Albinism
Phenylketonuria
Vitamin B12 deficiency
G6PD deficiency


16. Microdeletion of long arm of chr 7 (incl. elastin gene). 'Elfin' faces - MR but good verbal skills - cheerful disposition - extreme friendliness w/ strangers - CV problems
Zinc deficiency
Hurler's syndrome
Neurofibromatosis type I (von Recklinghausen's disease)
Williams syndrome


17. Inclusion cell disease. Can't add mannose -6- P to lysosome proteins. Enzymes secreted outside of cell instead of targeted to lysosome. Lysosomal storage disorder. Coarse facial features - clouded corneas - restricted joint movement - high plasma lev
Phenylketonuria
Angelman's syndrome
Achondroplasia
Cell disease


18. Lysosomal storage disease (a mucopolysaccharidosis). X- linked rec deficiency of iduronate sulfatase; heparan sulfate - dermatan sulfate accumulate. Mild Hurler's phenotype (developmental delay - gargoylism (thickened gingiva + upturned nose) - airwa

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19. Aut - dom. Facial lesions (adenoma sebaceum) - hypopigmented 'ash - leaf spots' on skin - cortical / retinal hamartomas - seizures - MR - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas. Inc. incidence astrocytomas. Incomplete penetrance w
Tuberous sclerosis
Ornithine transcarbamoylase (OTC) deficiency
Von Gierke's disease
Albinism


20. 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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21. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Zellweger syndrome
Multiple endocrine neoplasias
Folic acid deficiency
Neurofibromatosis type II


22. Dec alpha - ketoacid dehydrogenase activity = blocked degradation of branched amino acid (Ile - Leu - Val = I Love Vermont; maple trees w/ branches). Increased alpha - ketoacids in blood (esp Leu). Severe CNS defects - MR - death. Urine smells like m
Maple syrup urine disease
Hyperammonemia
Vitamin D excess
Velocardiofacial syndrome


23. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Zinc deficiency
Cori's disease
Adenosine deaminase deficiency
Hypervitaminosis A


24. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Hyperammonemia
Zinc deficiency
Arsenic toxicity
Familial hypercholesterolemia


25. 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
Down syndrome
Familial adenomatous polyposis coli
DiGeorge syndrome
Vitamin B3 excess


26. 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
Adenosine deaminase deficiency
Vitamin C (ascorbic acid) deficiency
Fabry's disease
Cell disease


27. Bleeds (gamma - carboxylation of glutamic acid residues on factors II - VII - IX - X - protein C - S). Neonatal hemorrhage (inc PT - aPTT - normal bleeding time - sterile intestine in newborn - can't synthesize vitK - synthesized by intestinal flora
Vitamin K deficiency
Hypervitaminosis A
Leber's hereditary optic neuropathy
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)


28. 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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29. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
Achondroplasia
Cri - du - chat syndrome
Hypophosphatemic rickets
Xeroderma pigmentosum


30. 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
Fabry's disease
Orotic aciduria
Tuberous sclerosis
Pellagra


31. 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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32. 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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33. Aut - rec deficiency of aldolase B; fructose -1- P accumulates; dec. in phosphate = inhibition of glycogenolysis / gluconeogenesis. Hypoglycemia - jaundice - cirrhosis - vomiting. Tx: limit fructose - sucrose (gluc + fruc) intake.
Williams syndrome
Hereditary nonpolyposis colorectal cancer
Vitamin B3 excess
Fructose intolerance


34. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Von Gierke's disease
Biotin deficiency
Arsenic toxicity
Cystic fibrosis


35. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Kwashiorkor
Velocardiofacial syndrome
Vitamin K deficiency
Osteogenesis imperfecta


36. 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
Galactokinase deficiency
Cystinuria
Abetalipoproteinemia
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)


37. X- linked rec; most common urea cycle disorder (others aut - rec). Can't eliminate ammonia; often dx'd perinatally but can be later. Dx: orotic acid in blood / urine (excess carbamoyl phosphate converted to orotic acid) - dec. BUN - hyperammonemia sx
Vitamin B5 deficiency
Edwards' syndrome
Von Gierke's disease
Ornithine transcarbamoylase (OTC) deficiency


38. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Alkaptonuria (ochronosis)
Kwashiorkor
Chediak - Higashi syndrome
Hypertriglyceridemia


39. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Hunter's syndrome
Tuberous sclerosis
Kwashiorkor
Refsum disease


40. 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
Phenylketonuria
Cori's disease
22q11 deletion syndromes
Osteogenesis imperfecta


41. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Becker's muscular dystrophy
Hyperammonemia
Xeroderma pigmentosum
Familial hypercholesterolemia


42. Night blindness - dry skin
Lesch - Nyhan Syndrome
Vitamin A deficiency
Zinc deficiency
Velocardiofacial syndrome


43. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Marfan's syndrome
Multiple endocrine neoplasias
Lesch - Nyhan Syndrome
Hereditary spherocytosis


44. Cobalamin = B12. macrocytic - megaloblastic anemia. Neuro sx: paresthesias - subacute combined degeneration from abnormal myelin. Prolonged deficiency = irreversible nervous system damage. Found in animal products; synthesized only by microorganisms.
Vitamin B12 deficiency
Hereditary nonpolyposis colorectal cancer
Familial adenomatous polyposis coli
Osteogenesis imperfecta


45. 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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46. 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
Leber's hereditary optic neuropathy
22q11 deletion syndromes
Fructosouria
Pellagra


47. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Velocardiofacial syndrome
Homocystinuria
Marasmus
Phenylketonuria


48. Aut - rec absence of galactose -1- phosphate uridyltransferase; toxic substances accumulate (e.g. galactitol in lens of eye). FTT - jaundice - hepatomegaly - infantile cataracts - MR. Tx: no galactose / lactose (glucose + galactose).
Classic galactosemia
Angelman's syndrome
Familial adenomatous polyposis coli
Hypertriglyceridemia


49. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of hexosaminidase A; GM2 ganglioside accumulates. Progressive neurodegeneration - developmental delay - cherry- red spot on macula - lysosomes with 'onion skin'
Zinc deficiency
Tay- Sachs disease
Neurofibromatosis type I (von Recklinghausen's disease)
Niemann - Pick disease


50. Aut - dom; mutation of huntingtin (chr 4 - 'hunting 4 food') - CAG repeats. Depression - progressive dementia - choreiform movements - caudate atrophy; manifests 20-50 y/o. Dec GABA - ACh in brain.

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