Term
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Definition
| X-linked Dom; increased phosphate wasting at prox tubule |
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Term
| Leber's hereditary optic neuropathy |
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Definition
| Mitochondrial disorder; degeneration on retinal ganglion cells and axons leading to acute vision loss |
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Term
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Definition
| Aut Dom; Defect of FGF receptor 3; dwarfism, short limbs but normal head and trunk; ADVANCED PATERNAL AGE |
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Term
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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 |
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Term
| Familial Adenomatous Polyposis |
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Definition
| Aut Dom; Deletion of APC gene on chromosome 5; lots of polyps progressing to colon ca. |
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Term
| familial hypercholesterolemia |
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Definition
| Aut Dom; Defective or absent LDL receptor; elevated LDL with early atherosclerotic disease, early MIs, ACHILLES TENDON XANTHOMA |
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Term
| Hereditary hemorrhagic telangectasia (osler-weber-rendu) |
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Definition
| Aut Dom; disorder of blood vessels; telangectasias, epistaxis, skin discoloration, AVMs |
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Term
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Definition
| Aut Dom; Spectrin or ankyrin defect; hemolytic anemia and inc MCHC |
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Term
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Definition
| Aut Dom; trinucleotide repeat disorder on Chromosome 4 (Hunting 4 food); depression, porogressive dementia, choreiform movements, caudate atrophy, decreased GABA and ACTH |
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Term
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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 |
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Term
| Multiple Endocrine Neoplasias (MEN) |
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Definition
| Aut Dom; Familial tumors of endocrine glands; MEN II and III associated with ret gene |
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Term
| Neurofibromatosis type I (von recklinghausen's) |
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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 |
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Term
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Definition
| Aut Dom; Chromosome 22; bilat acoustic neuroma, juvenile cataracts |
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Term
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Definition
| Aut Dom; adenoma sebaceum (facial lesions), ash leaf spots, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and angiomyolipomas, cardiac rhabdomyoplipomas, astrocytomas |
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Term
| von Hippel-Lindau disease |
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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 |
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Term
| Autosomal recessive diseases |
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Definition
| Albinism, AAT def, ARPKD, cystic fibrosis, glycogen storage diseases, hemochromatosis, mucopolysaccharidoses (except Hunter's), phenyketonuria, sickle cell anemia, sphingolipidoses (except Fabry's), thalassemias |
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Term
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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 |
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Term
| X-linked recessive disorders |
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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 |
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Term
| Duchenne's Muscular Dystrophy |
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Definition
| X-linked frameshift mutation leading to deletion of dystrophin gene -- accelerated muscle breakdown; Gower's manuever, pelvic girdle weakness, cardiac myopathy; Inc CPK |
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Term
| Becker's Muscular Dystrophy |
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Definition
| X-linked mutated dystrophin gene; onset in late adolescence/early adulthood of muscle weakness; Inc CPK |
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Term
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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 |
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Term
| Trinucleotide repeat expansion diseases |
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Definition
| Huntington's (CAG), myotonic dystrophy (CTG), Friedreich's ataxia (GAA), Fragile X syndrome (CGG) |
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Term
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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 |
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Term
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Definition
| Trisomy 18; severe mental retardation, rocker bottom feet, micrognathia, low ears, clenched hands, prominent occiput, CHD, death within 1yr |
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Term
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Definition
| trisomy 13; severe mental retardation, rocker-bottom feet, micropthalmia, microcephaly, cleft lip.palate, holoprosencephaly, polydactyly, CHD; death within 1 yr |
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Term
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Definition
| Congenital microdeletion of 5p; microcephaly, mental retardation, cat cry, epicanthal folds, cardiac abnormalities |
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Term
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Definition
| Microdeletion of long arm of Chromosome 7 (including elastin gene); elfin faciec, retardation, well-developed verbal skills and cheerful disposition, cardiovascular problems |
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Term
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Definition
| 22q11 deletion syndrome with thymic, parathyroid and cardiac defects; |
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Term
| Velocardiofacial syndrome |
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Definition
| 22q11 deletion with palate, facial and cardiac defects |
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