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Diseases

Diseases - Term Definition Fabrys X linked Sphinoglipids...

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Term: Fabrys Definition: X linked Sphinoglipids. Eyes, skin, neuro, peripheral neuro. Lysosomal disorder causes a glycolipids to accumulate in blood vessels Term: Gaucher Definition: Lysosomal disorder. Sphingolipid. Bone pain. Jaundice. Lipids build up in cells. Bruising fatigue. Term: Tay Sachs Definition: Lysosomal storage disorder. Gangliosides accumulate in the brain. (neurons). Polysaccharide disorder. Autosomal recessive. Show neuro symptoms. Term: Krabbes Definition: Lysosomal storage disorders. Myelin sheath. Sphingolipids. Buffalo bills qb. Looks like cerebral palsy. Late onset.
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Term: Hurlers Definition: GAGs (glycoaminoglycans). Lysosomal disorder. Not x linked- autosomal recessive. Alpha-L idaronidase. Gargoyalism- short stature. mucopolysaccharides build up inthe lysosome. Term: Hunter Definition: Lysosomal storage disorder. X-linked recessive. GAGs disorder. Idaronidase sulfatase (ATP needed) MR, hyperactivity, abnormal retinas. Involved mucopolysaccharides. Not as severe as Hurlers Term: Cri-du-Chat Definition: De novo mutation translocation. Cat call. MR,hypotonia, microcephalic, 90% de novo. Terminal deletion [5p15] Term: Wolf Hirschhorn Definition: Due novo mutation translocation. Greek helmet. Wide nose, distinct craniofacial 87% denovo Terminal deletion [4p16.3]
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Term: Ewings sarcoma Definition: De novo mutation translocation affects teens and young adults. Small round tumor cells. Affects master regulator fx of cells Translocation of 11and22. Gene is EWSFL1 Term: Mccune Albright Definition: Denovo mUTATION Post zygotic mutation of G protein signaling gene Can't turn off cAMP regulation. Polycistronic fibrous dysplasia that leads to abnormal bone formation. Hyper pigmentation. Mosaicism for mutations of GNAS1. Term: Pertussis Definition: Can't initiate cAMP cascade Term: Cholera Definition: Can't turn off cAMP cascade
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Term: Williams syndrome Definition: Denovo mutation translocation. Deletion on chrom 7. Leads to a build up of copper. Has rings in eyes. Elvish features, very friendly. Term: CML-chronic myeloid leukemia Definition: Denovo mutation translocation. Philadelphia chromosome. T(9:22)(q34:q11)Robertsonian BCR (22) and ABL(9) on to 22 to make up BCRABL. Speeds up cell division Cancer if WBC Imantinub drug or gleevac (tyrosine kinase inhibitor) Term: Pallister-Killian Definition: Denovo mutation translocation Isochrome (12). Tetra some of 12p Developmental delays, mr Shows mosaicism due to mitotic error. Fibroblasts have 47 chrom and lymphocytes are normal. Term: Beckwith Weidemann Definition: Imprinting. Uniparental. Dysomy 11. Shows overgrowth. Large tongue shows interstitial duplication of 11p13
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Term: Russell-Silver Definition: Imprinting of paternal. Dwarfism.
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