Genetic Disorders

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Can you name the Genetic Disorders?

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CharacteristicGenetic DisorderPresentation(Inheritance Pattern)
Deficiency in lysosomal enzyme beta-glucocerebrosidaseHepatospenomegaly, Gaucher's cells(AR)
Mutation in DMD gene coding for dystrophinGower's sign, large calves(XR)
Mutation in FGFR3 gene causing abnormal cartilage formationDwarfism, short limbs(AD)
Absence of galactose-1-phosphate uridyltransferaseInability to metabolize galactose(AR)
Trinucleotide expansion in exon of HTT gene leading to altered proteinChorea, preceded by personality change, present ~40 yoa(AD)
Trinucleotide expansion in 3' UTR of DMPKOnset early adulthood, myotonia(AD)
Deficiency in lysosomal enzyme Hexosaminidase AProgressive neurodegeneration, devel. delay, red spot on macula(AR)
Long repeats in FRDA gene results in dimished frataxin and impairment in mitochondrial functioningStaggering gait, weakness(AR)
Trisomy 21MR, flat facies
Deletion or inactivation of normally active maternal allele on chromosome 15MR, seizures, ataxia, inappropriate laughter
CharacteristicGenetic DisorderPresentation(Inheritance Pattern)
Mutations in genes involved with collagenHyperextensible skin, easy bruising, hypermobile joints(most AD)
Absense or dysfunction of lysosomal enzyme alpha-galactisidase APeripheral neuropathy, angiokeratomas(XR)
Microdeletion at chromosome 22q11Variable presentation, CATCH(AD)
Methylation and expression of FMR1 affected by deletion or trinucleotide repeatMacro-orchidism, large jaw, large ears(XD)
Deficiency in PAH or THBReduced metabolism of phenylalanine leading to MR
Defect in CFTR gene leading to abnormal CFTR channelExcess mucus production, coughing, frequent pulmonary infections(AR)
Fibrillin gene mutationTall with long extremities,pectus excavatum(AD)
Germline mutation of p53 tumor suppressor geneIncrease susceptibility to cancer(AD)
Deficiency in BCKD leading to builup of branched chain A.A.sSweet smelling urine, infants healthy at birth but have sever brain damage if untreated
Deletion or inactivation of normally active paternal allele on chromosome 15MR, hypotonia, obesity, hypogonadism

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