Genetic Disorders

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Can you name the Genetic Disorders?

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

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