Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
37 Cards in this Set
- Front
- Back
Prader-Willi Syndrome
|
Chr: 15
Mx: Inactivation/deletion/uniparental disomy. Imprinting. Deletion of active paternal allele. Hx: Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia. |
|
Angelman Syndrome
|
Chr: 15
Mx: Inactivation/deletion/uniparental disomy. Imprinting. Deletion of active maternal allele. Hx: Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet"). |
|
Achondroplasia
|
Gn: FGFR3
Mx: AD Fx: Cell-signaling defect Hx: Dwarfism, short limbs, head+trunk same size. Assoc: Adv. paternal age. |
|
Autosomal-Dominant Polycystic Kidney Disease
|
Chr: 16
Gn: APKD1 (point mutation) Fx: Always bilateral massive kidney enlargement of kidneys due to multiple large cysts. Onset: Adult Hx: Flank pain, hematuria, HTN, progressive renal failure. Assoc: Polycystic liver dz, berry aneurysms, mitral valve prolapse. |
|
Familial Adenomatous Polyposis
|
Chr: 5
Gn: APC (deletion) Mx: AD Fx: Colon covered with adenomatous polyps after puberty, always progresses to colon CA unless resected. |
|
Familial Hypercholesterolemia (HLE IIA)
|
Gn: LDLR
Mx: AD Fx: Hetero - 300 mg/dL, homo - 700+. Hx: Severe atherosclerotic dz early in life, tendon xanthomas (Achilles), MI < 20 y/o. |
|
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu)
|
Mx: AD
Fx: Inherited disorder of blood vessels Hx: Telangiectasia, epistaxis, skin discolorations, AVMs. |
|
Hereditary Spherocytosis
|
Mx: AD
Gn: Spectrin/Ankyrin defect Fx: Spheroid erythrocytes Hx: Hemolytic anemia, ↑MCHC Tx: Splenectomy |
|
Huntington's Disease
|
Chr: 4
Mx: AD, CAC-repeat Hx: Depression, progressive dementia, choreiform movements, caudate atrophy, ↓GABA+ACh. S/S 20-50 y/o. |
|
Marfan's Syndrome
|
Gen: Fibrillin
Mx: AD Hx: Tall w/long extremities, pectus excavatum, hyperextensive joints, arachnodactyly, aortic cystic medial necrosis→aortic dissection, floppy mitral valve, lens subluxation. |
|
Multiple Endocrine Neoplasia 1
|
Mx: AD
Hx: Pancreas+Parathyroid+Pituitary |
|
Multiple Endocrine Neoplasia 2
|
Mx: AD
Gen: Ret Hx: Thyroid+Medulla |
|
Neurofibromatosis 1 (von Recklinghausen's Disease)
|
Chr: 17q
Mx: AD Gen: NF1 Hx: Cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). Assoc: Skeletal disorders (e.g., scoliosis), optic gliomas, pheochromocytomas, ↑tumors. |
|
Neurofibromatosis 2
|
Chr
Mx: AD Gen: NF2 Hx: Bilateral acoustic neuroma, juvenile cataracts. |
|
Tuberous sclerosis
|
Mx: AD (incomplete penetrance, variable presentation)
Hx: Facial lesions (adenoma sebaceum), hypopigmented "ash leaf spots" on skin, cortical+retinal hamartomas, seizures, mental retardation, renal cysts+angiomyolipomas, cardiac rhabdomyomas, ↑astrocytomas. |
|
von Hippel-Lindau Disease
|
Chr: 3p
Mx: AD, deletion. Gen: VHL (tumor suppressor) Fx: Constituitive HIF (transcription factor) expression, angiogenic growth factor activation. Hx: Hemangioblastomas (retina/cerebellum/medulla), bilateral renal cell carcinoma, other tumors. |
|
Orotic Aciduria
|
Mx: AR
Gn: Orotic acid phosphoribosyltransferase or orotidine 5'-phosphate decarboxylase Fx: Orotic acid↛UMP Hx: ↑orotic acid in urine, megaloblastic anemia (B12/folate no help), failure to thrive, no ↑NH4. Tx: PO uridine |
|
Adenosine Deaminase Deficiency
|
Gn: Adenosine deaminase
Fx: Purine salvage deficiency, no lymphocytes. Hx: SCID. |
|
Lesch-Nyhan Syndrome
|
Mx: XR
Gn: HGPRT Fx: Purine salvage deficiency, Hypoxanthine↛IMP/Guanine↛GMP, ↑uric acid Hx: Retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis. |
|
I-Cell Disease
|
Fx: Lysosomal storage disorder, can't add mannose-6-phosphate to proteins, lysosomal proteins exported outside cell, inclusions.
Hx: Coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes. Fatal in childhood. |
|
Chediak-Higashi Syndrome
|
Fx: Microtubule polymerization defect, ↓phagocytosis.
Hx: Recurrent pyogenic infections, partial albinism, peripheral neuropathy. |
|
Kartagener's Syndrome
|
Gn: Dynein
Fx: Immotile cilia, dynein arm defect. Hx: Male/female infertility, bronchiectasis, sinusitis. Assoc: Situs inversus. |
|
Ehlers-Danlos Syndrome
|
Gn: COL3
Fx: Faulty collagen synth. Hx: Hyperextensible skin, easy bruising/bleeding, hypermobile joints. Assoc: Joint disloc, berry aneurysms, organ rupture. |
|
Osteogenesis Imperfecta
|
Mx: AD (common)
Gn: COL1 Hx: Multiple fractures w/minimal trauma, blue sclerae, hearing loss (abnormal middle-ear bones), dental imperfections. |
|
Alport's Syndrome
|
Mx: XR
Gn: COL4 Hx: Progressive hereditary nephritis, deafness, ocular disturbances. |
|
Cystic Fibrosis
|
Chr: 7
Mx: AR Gn: CFTR (d508F)→abnormal folding→degradation before surface Fx: CFTR is active chloride pump, secretes in lungs, reabsorbs from sweat. Secreton of abnormally thick mucus (lungs, pancreas, liver). Hx: Recurrent pulm infections (Pseudomonas, S. aureus), chronic bronchitis, bronchiectasis, pancreatic insuf. (malabsorption, steatorrhea), meconium ileus, male infertility (vas deferens absent), ADEK-deficiency. Assoc: Sweat test Tx: N-acetylcysteine to loosen plugs. |
|
Duchenne's Muscular Dystrophy
|
Mx: XR
Gn: DMD (frameshift), high rate of spontaneous mutation. Fx: Accelerated muscle breakdown (dystrophin anchors fibers). Hx: Progressive weakness, start in pelvic girdle, goes up. Pseudohypertrophy of calf muscles (fibrofatty replacement), cardiac myopathy. Onset < 5 y/o. Need arms to stand (Gowers' maneuver). Dx: ↑CPK, biopsy. |
|
Becker's Muscular Dystrophy
|
Mx: XR
Gn: DMD Hx: Less severe than Duchenne's. Onset in adol/early adult. Hx: Progressive weakness, start in pelvic girdle, goes up. Pseudohypertrophy of calf muscles (fibrofatty replacement), cardiac myopathy. Need arms to stand (Gowers' maneuver). Dx: ↑CPK, biopsy. |
|
Fragile X Syndrome
|
Mx: XR
Gn: FMR1 (CGG repeat) Hx: Retardation (2nd after Down), macro-orchidism, long face w/large jaw, large everted ears, autism, mitral valve prolapse. Assoc: Chromosomal breakage |
|
Down's Syndrome
|
Mx: Trisomy 21
Hx: Retardation, flat facies, epicanthal folds, simian crease, 1st 2 toes gap, duodenal atresia, septum primum ASD. Assoc: ALL, Alzheimer's. Dx: Pregnancy quad screen - ↓AFP, ↓estriol, ↑b-hCG, ↑inhibin A. Nuchal translucency in usound. |
|
Edwards' Syndrome
|
Mx: Trisomy 18
Hx: Severe retardation, micrognathia, clenched hands, heart dz. |
|
Patau's Syndrome
|
Mx: Trisomy 13
Hx: Cleft lip/palate, holoprosencephaly, polydactyly, heart dz. |
|
Cri-du-chat Syndrome
|
Mx: 5p-
Hx: Microcephaly, retardation, high-pitched cry, epicanthal folds, cardiac problems. |
|
Williams Syndrome
|
Mx: 7q- (esp. elastin)
Hx: Elfin facies, retardation, ↑[Ca] (↑vitD sens), good talker, very friendly, cardiovascular problems. |
|
DiGeorge Syndrome
|
Mx: 22q11-
Fx: CATCH-22: Cleft palate, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia (parathyroid aplasia). Aberrant development of 3rd/4th branchial pouches. Hx: Thymic, parathyroid, cardiac defects. |
|
Velocardiofacial Syndrome
|
Mx: 22q11-
Fx: CATCH-22: Cleft palate, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia (parathyroid aplasia). Aberrant development of 3rd/4th branchial pouches. Hx: Palate, facial, cardiac defects. |
|
G6PD Deficiency
|
Mx: XR
Fx: ↓NADPH→↓Glutathione→Hemolysis. Hx: Blacks, malarial resistance Assoc: Heinz bodies (oxidized hemoglobin), Bite cells (phagocytic removal of Heinz bodies) |