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21 Cards in this Set
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- Back
- 3rd side (hint)
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Achondroplasia
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Cell-signaling defect of fibroblast growth factor (FGF) receptor 3. Results in dwarfism, short limbs, larger head but trunk size normal. Associated with advanced paternal age.
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Autosomal Dominant
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ADPKD, formerly known as adult polycystic kidney dz
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Always bilateral, massive enlargement of kidneys due to multiple large cysts. Patients present with flank pain, hematuria, hypertension, progressive renal failure. 85% of cases due to mutation in PKD1 on chromosome 16. Also associated with polycystic liver dz, berry aneurysms, mitral valve prolapse.
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Autosomal Dominant
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Familial adenomatous polyposis
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Colon becomes covered with adenomatous polyps after puberty. Progresses to colon cancer unless colon is resected. Mutation on chromosome 5
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Autosomal Dominant
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Familial hypercholesterolemia (hyperlipidemia, type IIA)
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Elevated LDL due to defective or absent LDL receptor. Heterozygotes 1:500 have cholesterol at ~ 300 mg/dL. Homozygotes have cholesterol ~ 700 mg/dL and have severe atherosclerotic dz early in life and tendon xanthomas (classically in Achilles tendon); MI can develop before age 20!
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Autosomal Dominant
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Hereditary hemorrhagic telangictasia aka Osler-Weber-Rendu syndrome
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Inherited disorder of blood vessels. Findings: telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations (AVMs).
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Autosomal Dominant
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Hereditary spherocytosis
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Spheroid erythrocytes due to spectrin or ankyrin defect; hemolytic anemia; increased MCHC. Splenectomy is curative.
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Autosomal Dominant
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Huntington's dz
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Progressive dementia, choreiform movements, caudate atrophy, decreased levels of GABA and ACh in brain. Manifest 20-50 years old. Gene located on chromosome 4; trinucleotide repeat disorder (CAG)
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Autosomal Dominant
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Marfan's syndrome
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Fibrillin 1 gene mutation --> connective tissue disorder affecting skeleton, heart and eyes. Tall with long extremities, pectus excavatum, hypermobile joints, and long tapering fingers and toes; cystic medial necrosis of aorta --> aortic incompetence and dissecting aortic aneurysms; floppy mitral valve. Subluxation of lenses.
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Autosomal Dominant
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Multiple endocrine neoplasias (MEN)
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Several distinct syndromes (1, 2A, 2B) characterized by familial tumors of endocrine glands, including those of the pancreas, parathyroid, pituitary, thyroid, and adrenal medulla. MEN2A and 2B are associated with the ret gene
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Autosomal Dominant
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Neurofibromatosis Type 1
aka von Reclinhghausen's dz |
Cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). Also marked by skeletal disorders (scoliosis) and optic pathway gliomas. On long arm of chromosome 17
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Autosomal Dominant
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Neurofibromatosis Type 2
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Bilateral acoustic schwannomas, juvenil cataracts. NF2 gene on chromosome 22
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Autosomal Dominant
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Tuberous sclerosis
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Facial lesions (adenoma sebaceum), hypopigmented "ash leaf spots" on skin, cortical adn retinal hamartomas, seizures, mental retardation, renal cysts adn renal angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas. Incomplete penetrance with variable presentation
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Autosomal Dominant
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von Hippel-Lindau dz
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hemangioblastomas of retina , cerebellum, medulla. Majority of affected individuals develop multiple bilateral renal cell carcinomas and other tumors. Associated with deletion of VHL gene (tumor suppressor) on chromosome 3. Results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors. chromosome 3.
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Autosomal Dominant
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Bruton's agammaglobulinema
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complete lack of immunoglobulin due to disordered B-cell maturation. Due to mutated Bruton tyrosine kinases. Present after 6 months of life with recurrent bacterial, enterovirus and Giardia lamblia infections. Live vaccinations must be avoided!!
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X-linked recessive disorder
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Wiskott-Aldrich syndrome
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thrombocytopenia (petechiae, mucosal membrane bleeding), eczema, and recurrent infections (defective humoral and cellular immunity). Due to WASP gene
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X-linked recessive disorder
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Fabry's dz
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a lysosomal storage dz
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X-linked recessive disorder
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G6PD deficiency
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cells are suceptible to oxidative stress as NADPH , a by product of G6PD, is needed to regenerate reduced glutathione. Glutathione is an antioxidant. Oxidative stress precipitates Hb as Heinz bodies and splenic macrophages process Heinz bodies resulting in bite cells. Presents clinically as hemoglobinuria and back pain hours after exposure to oxidative stress.
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X-linked recessive disorder
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Lesch-Nyhan syndrome
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deficiency in HGPRT enzyme in the purine salvage pathway leads to hyperuricemia and increased de novo purine synthesis. Manifests as retardation, self-multilation, aggression, hyperuricemia, gout, choreoathetosis
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X-linked recessive disorder
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Duchenne's and Becker's muscular dystrophy
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deletion of dysrtophin gene which causes accelerated muscle breakdown with fibrofatty replacement. Use of Gower's maneuver characteristic.
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X-linked recessive disorderv
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Hemophelia A and B
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Hemophilia A is a genetic Factor 8 defciency. Presents with deep tissue, joint, and post surgical bleeding.
Hemophilia B is a genetic Factor 9 deficiency. Resembles A type. |
X-linked recessive disorder
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Ornithine transcarbamoylase deficiency
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Ornithine transcarbamoylase is an essential enzyme in the urea cycle. Deficiency causes ammonia to build up and spill into blood. Also, an increase in orotic acid occurs which spills over to the pyrimidine synthesis pathway.
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X-linked recessive disorder
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