Term
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Definition
| AR disorder, deficiency in enzyme. There is a wide variation of different alleles, normal phenotypes |
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Term
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Definition
| AD disorder, mutation in fibrillin-1 gene. Causes skeletal and cardiovascular complications |
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Term
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Definition
| AD disorder, most common form of dwarfism. Double dominant condition is lethal. Phenotype caused by mutation in FGFR2 receptor, leading to premature cessation of bone development. |
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Term
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Definition
| AD condition. Café au lait spots, neurofibromas, learning difficulties, CNS tumors. 100% penetrance, but widely variable expressivity. |
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Term
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Definition
| AR mutation in CFTR gene. Meconium ileus, exocrine pancreatic insufficiency, resp/pulmonary disease, male infertility, excess Cl in sweat. |
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Term
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Definition
| AR lysosomal storage disease, lacking hexosaminidase A responsible for ganglioside degeneration, causes accumulation in neurons. Normal at birth, but death by 2-4 years. Cherry red spot on macula |
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Term
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Definition
| XR caused by mutation in dystrophen gene. More severe type, pseuodohypertrophy of calves, 20% have MR, death by late teens |
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Term
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Definition
| XR mutation of dystrophen. Healthy babies, walk into 20's, no MR. Most live past 21 yrs. |
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Term
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Definition
| XR disorder in factor VIII. Excessive or spontaneous bleeding and other factors. Can be either severe or mild forms. Treated with factor VIII infusions |
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Term
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Definition
| XD disorder, bowed legs, shorter stature. Rickets that doesn't respond to vit D treatment |
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Term
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Definition
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Term
| Chronic progressive external opthamoplegia (CPEO) |
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Definition
| MT disorder, external opthalmoplegia (eye muscle paralysis, ptosis (drooping of eye) |
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Term
| Kearns-Sayre Syndrome (KSS) |
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Definition
| MT disorder. PEO onset by 20, pigmentary retinopathy, and one of: High CSF protein, cerebellar ataxia, heart block |
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Term
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Definition
| MT disorder, sideroblastic anemia of childhood, pancytopenia (reduced number of all blood cells), exocrine pancreatic failure |
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Term
| Infantile myopathy and lactic acidosis |
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Definition
| MT disorder, hypotonia in first year, feeding and respiratory difficulties |
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Term
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Definition
| MT disorder, encephalopathy, brainstem signs, infantile onset |
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Term
| Neurogenic weakness with ataxia and retinitis pigmentosum (NARP) |
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Definition
| MT disorder, peripheral neuropathy, ataxia, pigmentary retinopathy |
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Term
| MT encephalopathy with lactic acidosis and stroke-like episodes (MELAS) |
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Definition
| MT disorder, stroke like episode before 40 yrs, seizures/dementia, ragged red fibers/lactic acidosis |
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Term
| Myoclonic epilipsy with ragged red fibers (MERRF) |
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Definition
| MT disorder, Myoclonus, seizures, cerebellar ataxia, myopathy |
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Term
| Leber hereditary optic neuropathy (LHON) |
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Definition
| MT disorder, painless bilateral vision failure, more common in males, onset at 24 yrs |
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Term
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Definition
| X-linked dominant disorder with reduced penetrance caused by trinucleotide repeat expansion on the X chromosome. Can be several forms, including or without methylation. MR, speech difficulty, facial abnormalities |
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Term
| DiGeoge syndrome (22q11.2 deletion) |
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Definition
| Includes several different disease names - birth defect. Conginital heart disease, hypocalcemia, immune dificiency, learning difficulties, psychiatric illness |
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Term
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Definition
| Ex of imprinting. Mutation on paternal chromosome 15 leads to this disease, also uniparental maternal disomy leads to the same thing. Characteristic facial features, developmental delay, FTT, hypogonadism, weight gain |
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Term
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Definition
| Ex of imprinting. Mutation on maternal chromosome 15 leads to this disease. Characteristic facial features, MR, speech problems, flapping arms |
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Term
| Beckwith-Wiedemann Syndrome |
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Definition
| Fetal overgrowth syndrome. Macrosomia, enlarged tongue, large internal organs, embryonal tumors, hemihyperplasia (asymetrical growth), renal abnormalities. Condition is related to imprinting of growth factor and tumor suppressor genes. Caused by paternal UPD, loss of maternal contribution. |
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Term
| Trisomy 21 (down's syndrome) |
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Definition
| MR, associated with increasing maternal age, characteristic facial features. Upslanting palpebral fissures, flat nasal bridge, low set ears, protruding tongue, epicanthal folds, simean palm crease. Congenital heart disease, AD like lesions in pts. Can also be caused through nondisjuntion of a robertsonian translocation. |
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Term
| Trisomy 18 (Edward's syndrome) |
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Definition
| MR, severe heart defects. Prominent occiput with receeded jaw, hands clenched with fingers overlapping, rocker-bottom feet. Most die within a year |
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Term
| Trisomy 13 (patau syndrome) |
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Definition
| Severe MR, heart and urogenital defects, microcephaly and cleft lip/palate. Polydactyly, rocker bottom feet. Most die within 6 mo. |
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Term
| Klinefelter syndrome (XXY) |
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Definition
| Hypogonadism and lack of androgens, dysgenesis of testes and infertility (more X = more severe) |
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Term
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Definition
| Most are spontaneously aborted, short stature, streak gonads, amenorrhea (no period), cardiac anomalies. Wide chest, webbed neck, wide spaced nipples |
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Term
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Definition
| Fairly normal male, controversial over aggressive behaviors |
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Term
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Definition
| More common than X, usually fertile with minor problems |
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Term
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Definition
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Term
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Definition
| Newborn screened AA disorder, may look like marfans |
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Term
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Definition
| AR, AA disorder, missing enzyme. MR seizures |
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Term
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Definition
| Seizures, developmental delay, vision problems, deafness |
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Term
| Congenital adrenal hyperplasia (CAH) |
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Definition
| Newborn test, 17-oh progesterone. AR conditions, have excess or deficiency of sex steriod hormones. |
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Term
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Definition
| AD cancer syndrome, causes hemangioblastomas (CNS, retina, kidney), renal ca. Normal VHL protein causes (in the presence of O2) degradation of a transcription factor HIF which leads to angiogenesis. |
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Term
| Chronic Myelogenous Leukemia (CML) |
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Definition
| Oncogene Chromosome translocation in CA. Caused by 9:22 translocation forming the Philadelphia chromosome. This translocation causes fusion of the BCR-ABL genes, which make a chimeric protein kinase. Causes constitutively active ABL tyrosine kinase activity |
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Term
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Definition
| Oncogene Translocation in cancer. 8:14 translocation places the c-MYC gene downstream of the IGH promoter, leading to MYC overexpression. Tumors are very fast growing, approx. 100% in growth fraction. |
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Term
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Definition
| Oncogene N-myc overexpression caused by amplification of the MYCN gene. Most common extracranial solid tumor of childhood, in adrenal medulla and ganglia. >10 copies leads to worse outcome. |
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Term
| HER2/neu in breast CA (ERB-B2) |
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Definition
| Oncogene overexpression of the epidermal growth factor receptor caused by gene amplification. Associated with poor outcome in breast cancer, though now can be treated with herceptin. |
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Term
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Definition
| TSG RB1 gene must be inactivated at both alleles. Rare intra-ocular tumor of childhood. Can be genetic (40%) or sporadic, uni- or bilateral (bi only genetic) |
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Term
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Definition
| TSG caused inherited CA syndrome. Germlinemutation of TP53 (p53). Causes a high incidence of breast, soft tissue, brain tumors, osteogenic sarcomas, leukemia. |
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Term
| Familial Adenomatous Polyposis (FAP) |
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Definition
| Mutation of APC tumor suppressor gene ("gate-keeper") which regulated some proliferation and movement through catenin. Causes catenin to congregate in the cell nucleus. Involves numerous colonic polyps, poor prognosis, recommend colectomy |
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Term
| Hereditary non-polyposis colorectal cancer (Lynch Syndrome) |
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Definition
| Germ linemutations in mistmatch repair genes, leading to microsatellite instability. Causes early onset colorectal Ca, also of ovary, endometrium, stomach , bowel, ureter, renal pelvis. Mutation may also involve aberrant methylation of promoters. |
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Term
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Definition
| Most common oncogene mutation. G-protein that has lost it's intrinsic GTPase activity and thus constitutively active. |
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Term
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Definition
| Most common TSG mutation in cancer. Normally upregulated by DNA damage and stress, leading to cell cycle arrest. P53 is the "guardian of the genome" |
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Term
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Definition
| BCL-2 overexpressed and block cell from entering mitochondrial apoptotic pathway |
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