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Path 5 Genetics


Are gain of func or loss of func mutants more common loss of func
disorder of connective tissue. autosom dom. defect in fibrillin-1. tall w long extremities, 2x jointed, spinal deformities, long head, pectus deformities, cardiovasc (mitral valve prolapse and ascending aorta dilation). Marfan synd
defect in synth or struct of fibrillar collagen. stretchy skin (vulnerable to trauma), hypermobile joints. can have rupture of colon and large aa. (vascular), rupture of cornea/retina detach (kyphoscoliosis: m.c.), diaphrag hernia (classic) Ehlers-Danlos synd
mutant LDL receptor->elevated cholesterol->premature atherosclerosis. diverts more IDL toward LDL. class 1-5 muts: synth, transport, binding, internalize, recycle. Familial Hypercholesterolemia
most common GM2 gangliosidosis->def hexosaminidase A. Ashkenazis. ganglioside accums mostly in retina->cherry red spot in macula. incoordination, flaccidity, blind, dementia. death by 3 y/o Tay-Sachs
lysosomal accum of sphingomyelin d/t def sphingomyelinase. Type A=severe infant form w neuro involve, wasting and early death, foamy cytoplasm w "zebra bods". Type B=organomegaly, no CNS involve, survive to adult. Ashkenazis. HEPATOSPLENOMEGALY Niemann-Pick A+B disease
mutant NPC1. cells accum cholest and gangliosides. presents as hydrops fetalis/stillbirth, neonatal hepatitis, chronic w neuro damage. More common. Niemann-Pick C disease
most common lysosomal store disorder. mut glucocerebrosidase. Glucocerebroside accum in phagocytes. type 1=mostly splenic and skeletal, non-neuronopathic. type 2=neuronopath, infants, hepatosplen still, no glucocerebroside in tissues. Gaucher disease
coarse facial feats, cloudy cornea, stiff joints, MR, urinary excrete of dermatan/heparan/keratan/chondroitin sulfates. Mucopolysaccharidoses - Hurler synd=def Alpha-1-iduronidase. severe, death by 6-10 y/o. - Hunter synd=X-linked, no cornea clouding, milder.
def G6P->hepatomegaly and hypoglycemia. Hepatic form von Gierke disease
def muscle phosphorylase->muscle cramps and low lactate lvls in blood after exercise. Myopathic form McArdle disease
def acid maltase->cardiomegaly Pompe disease
lack of homogentisic oxidase->black urine, blue-black tendons/cartilage (ears/nose/cheek). brittle, fibrillated IV discs Alkaptonuria
chromosome consisting of two long or two short arms only Isochromosome
Most common chromosomal disorder and major cause of MR. flat face, epicanthic folds, simian crease, lots neck skin, heart defects(septal defects). increased risk of leukemias and Alzheimer. Trisomy 21=Down synd.
prominent occiput, MR, small mouth, low ears, short neck, overlapped fingers, heart defects, horseshoe kidney, rocker-bottom feet Trisomy 18=Edwards synd
small head, polydactyly, small eyes, cleft lip/palate, heart defects, rocker-bottom feet Trisomy 13=Patau synd
heart defects, palate probs, facial probs, T-cell immunodef (thymic hypoplasia) and hypocalcemia (parathyroid hypoplasia). high risk schizo and bipolar DiGeorge synd - 22qll.2 deletion
male hypogonadism when there are 2 or more X chromos and 1 or more Ys. Elongated body/legs, atrophic testes, small penis, lack of deep voice/beard/male pubic hair, gynecomastia. increased type 2 diabetes and mitral valve prolapse. High FSH, Low testost. Klinefelter synd
complete or partial monosomy of X chromo, hypogonadism in phenotypic females. most common sex chromo abnorm in females. neck web, short, low post. hairline, broad chest, coarctation of aorta, infertile, AMENORRHEA (most imp cause). Turner synd
X-linked mut familial mental retard-1 gene, CGG repeat expansion. MACRO-ORCHIDISM, large mandible, large everted ears, mitral valve prolapse. Fragile-X synd
MR, short, hypotonia, hyperphagia, obesity, small hands/feet, hypogonad. del in paternal chromo 15. Prader-Willi
MR, ataxia, seizures, inappropriate laughter (happy puppets). del in maternal chromo 15. Angelman synd
Created by: Jakphooey