Genetic Disorders

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Can you name the Genetic Disorders?

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

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