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15 Cards in this Set
- Front
- Back
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Achondroplasia |
Autosomal dominant. Cell signaling defect of fibroblast growth receptor 3. Dwarfism. Associated with advanced paternal age |
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Autosomal dominant polycystic kidney disease |
Bilateral massive enlargement of kidneys due to cysts. Flank pain, hematuria, hypertension, renal failure. Mutation of PKD1 on chromosome 16. 16 letters in polycystic kidney |
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Familial adenomatous polyposis |
Autosomal dominant. Colon covered with adenomatous polyps after puberty. Progresses to cancer if colon not resected. Chromosome 5 |
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Familial hypercholesterolemia (IIA) |
Autosomal dominant. Elevated LDL due to deficient LDL receptor. Worse for homozygotes. Severe atherosclerotic disease early in life, tendon xanthomas, MI |
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Hereditary hemorrhagic telangiectasia |
Autosomal dominant disorder of blood vessels. Telangiectasia, epistaxis, skin discoloration, AVMs |
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Hereditary spherocytosis |
Autosomal dominant. Due to spectrin or ankyrin defect. Hemolytic anemia, increased MCHC. Splenectomy curative |
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Huntington's disease |
Autosomal dominant. Depression, dementia, choreiform movements, caudate atrophy, decreased GABA and ACh in brain. Manifests between 20 and 50 years old. Trinucleotide repeat CAG on chromosome 4. "Hunting 4 food" |
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Marfan's syndrome |
Autosomal dominant. Fibrillin-1 gene mutation. Affects skeleton, heart, eyes. Dissecting aortic aneurysms, floppy mitral valve, subluxation of lenses |
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Neurofibromatosis type 1 (von Recklinghausen's disease) |
Autosomal dominant. Café-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), scoliosis, optic pathway gliomas. Long arm of chromosome 17. 17 letters in von Recklinghausen |
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Neurofibromatosis type 2 |
Bilateral acoustic schwannomas, juvenile cataracts. NF2 gene on chromosome 22 |
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Tuberous sclerosis |
Autosomal dominant. Facial lesions (adenoma sebaceum), hypopigmented ash leaf spots on skin, retinal hamartomas, seizures, mental retardation, renal cysts and renal angiolypomas, cardiac rhabdomyomas, astrocytomas. Incomplete penetrance, variable presentation |
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von Hippel-Lindau disease |
Autosomal dominant. Hemangioblastomas of retina/cerebellum/medulla, bilateral renal cell carcinomas and other tumors. Deletion of VHL gene on chromosome 3, resulting in constitutive expression of HIF transcription factor and activation of angiogenic growth factors. 3 words in VHL |
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Cystic fibrosis |
Autosomal recessive defect in CFTR gene of chromosome 7, commonly deletion of Phe 508. Defective Cl- channels resulting in thick mucus that plugs lungs, pancreas, liver. Recurrent pulmonary infections (Pseudomonas and Staph), chronic bronchitis, bronchiectasis, pancreatic insufficiency, nasal polyps, meconium ileus in newborns, lack of vas deferens in males, fat-soluble vitamin deficiencies. Cl- sweat test. Treat with N-acetylcysteine to loosen mucus plugs |
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Duchenne's muscular dystrophy |
X-linked frameshift mutation, deletion of dystrophin gene causing accelerated muscle breakdown. Weakness beginning in pelvic muscles. Pseudohypertrophy of calves, cardiac myopathy. Use of Gower maneuver. Increased CPK and lack of dystrophin on biopsy |
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Fragile X syndrome |
X linked defect affecting methylation of FMR1 gene. Mental retardation, macroorchidism, long face, large jaw, large ears, autism, mitral valve prolapse. Trinucleotide repeat CGG |
