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Biochem - Genetics
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29
Medical
Graduate
05/19/2009

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Term
Hypophosphatemia Rickets
Definition
X-linked Dom; increased phosphate wasting at prox tubule
Term
Leber's hereditary optic neuropathy
Definition
Mitochondrial disorder; degeneration on retinal ganglion cells and axons leading to acute vision loss
Term
Achondroplasia
Definition
Aut Dom; Defect of FGF receptor 3; dwarfism, short limbs but normal head and trunk; ADVANCED PATERNAL AGE
Term
APKD
Definition
Aut Dom; mutation in APKD1 on C.16; bilateral massive enlargement of kidneys; flank pain, hematuria, HTN, renal failure; associated with BERRY ANEURYSMS, MVP
Term
Familial Adenomatous Polyposis
Definition
Aut Dom; Deletion of APC gene on chromosome 5; lots of polyps progressing to colon ca.
Term
familial hypercholesterolemia
Definition
Aut Dom; Defective or absent LDL receptor; elevated LDL with early atherosclerotic disease, early MIs, ACHILLES TENDON XANTHOMA
Term
Hereditary hemorrhagic telangectasia (osler-weber-rendu)
Definition
Aut Dom; disorder of blood vessels; telangectasias, epistaxis, skin discoloration, AVMs
Term
Hereditary spherocytosis
Definition
Aut Dom; Spectrin or ankyrin defect; hemolytic anemia and inc MCHC
Term
Huntington's
Definition
Aut Dom; trinucleotide repeat disorder on Chromosome 4 (Hunting 4 food); depression, porogressive dementia, choreiform movements, caudate atrophy, decreased GABA and ACTH
Term
Marfan's Syndrome
Definition
Aut Dom; Fibrillin gene mutation; tall, long extremities, pectus excavatum, hyperextensive joints, arachnodactyly; cystic medial necrosis of aorta -- aortic incompetence and dissecting aortic aneurysms, floppy mitral valve, lens subluxation
Term
Multiple Endocrine Neoplasias (MEN)
Definition
Aut Dom; Familial tumors of endocrine glands; MEN II and III associated with ret gene
Term
Neurofibromatosis type I (von recklinghausen's)
Definition
Aut Dom; Defect on long arm of chromosome 17 in NF1 gene which is normally a tumor suppressor; cafe-au-lait spots, neural tumors, Lisch nodules, skeletal disorders, optic pathway gliomas, pheos, inc tumor suceptibility
Term
NF 2
Definition
Aut Dom; Chromosome 22; bilat acoustic neuroma, juvenile cataracts
Term
Tuberous sclerosis
Definition
Aut Dom; adenoma sebaceum (facial lesions), ash leaf spots, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and angiomyolipomas, cardiac rhabdomyoplipomas, astrocytomas
Term
von Hippel-Lindau disease
Definition
Aut Dom; Deletion of VHL on chromosome 3 leading to constitutive activation of HIF and activation of angiogenic growth factors; hemangioblastomas of retina, cerebellum, medulla; multiple bilateral renal cell tumors
Term
Autosomal recessive diseases
Definition
Albinism, AAT def, ARPKD, cystic fibrosis, glycogen storage diseases, hemochromatosis, mucopolysaccharidoses (except Hunter's), phenyketonuria, sickle cell anemia, sphingolipidoses (except Fabry's), thalassemias
Term
Cystic fibrosis
Definition
Aut rec; defect on CFTR gene on C 7; secretion of abnormally thick mucus that plugs lungs, pancreas and liver -- recurrent pulm infections (pseudomonas and s. aureus), chronic bronchitis, bronchiectasis, pancreatic insuff, meconium ileus in newborns; Test: in Cl- conc in sweat
Term
X-linked recessive disorders
Definition
Be Wise Fool's GOLD Heeds False Hope:
Bruton's agammaglobulinemia, Wiskott-Aldrich syndrome, Fragile X, G6PD def, Ocular albinism, lesch-Nyhan syn, Duchenne MD, Hemophilia, fabry's, Hunter's
Term
Duchenne's Muscular Dystrophy
Definition
X-linked frameshift mutation leading to deletion of dystrophin gene -- accelerated muscle breakdown; Gower's manuever, pelvic girdle weakness, cardiac myopathy; Inc CPK
Term
Becker's Muscular Dystrophy
Definition
X-linked mutated dystrophin gene; onset in late adolescence/early adulthood of muscle weakness; Inc CPK
Term
Fragile X syndrome
Definition
X-linked defect affecting methylation and expression of FMR1 gene; trinucleotide repeat disorder; chromosomal breakage; mental retardation, big testes, long face with large jaw, lg everted ears, autism
Term
Trinucleotide repeat expansion diseases
Definition
Huntington's (CAG), myotonic dystrophy (CTG), Friedreich's ataxia (GAA), Fragile X syndrome (CGG)
Term
Down Syndrome
Definition
Trisomy 21; mental retardation, flat facies, epicanthal folds, simian crease, etc; CHD: septum-primum ASD; Inc risk of ALL and alzheimer's; Dec AFP and estriol, Inc B-HCG and inhibin A; mostly due to meiotic nondisjunction but some robertsonian
Term
Edward's Syndrome
Definition
Trisomy 18; severe mental retardation, rocker bottom feet, micrognathia, low ears, clenched hands, prominent occiput, CHD, death within 1yr
Term
Patau's Syndrome
Definition
trisomy 13; severe mental retardation, rocker-bottom feet, micropthalmia, microcephaly, cleft lip.palate, holoprosencephaly, polydactyly, CHD; death within 1 yr
Term
Cri-du-Chat
Definition
Congenital microdeletion of 5p; microcephaly, mental retardation, cat cry, epicanthal folds, cardiac abnormalities
Term
William's syndrome
Definition
Microdeletion of long arm of Chromosome 7 (including elastin gene); elfin faciec, retardation, well-developed verbal skills and cheerful disposition, cardiovascular problems
Term
DiGeorge Syndrome
Definition
22q11 deletion syndrome with thymic, parathyroid and cardiac defects;
Term
Velocardiofacial syndrome
Definition
22q11 deletion with palate, facial and cardiac defects
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