Can you name the Genetic Disorders?

created by bigdawg91
  • Enter a genetic disorder in the box below
  • Correctly named genetic disorders will show up below
  • Click any empty Characteristic or Genetic Disorder to answer for that location
  • This quiz has not been verified by Sporcle
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CharacteristicGenetic DisorderPresentation(Inheritance Pattern)
Defect in CFTR gene leading to abnormal CFTR channelExcess mucus production, coughing, frequent pulmonary infections(AR)
Mutation in DMD gene coding for dystrophinGower's sign, large calves(XR)
Fibrillin gene mutationTall with long extremities,pectus excavatum(AD)
Trisomy 21MR, flat facies
Microdeletion at chromosome 22q11Variable presentation, CATCH(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
Absence of galactose-1-phosphate uridyltransferaseInability to metabolize galactose(AR)
Deletion or inactivation of normally active maternal allele on chromosome 15MR, seizures, ataxia, inappropriate laughter
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)
CharacteristicGenetic DisorderPresentation(Inheritance Pattern)
Trinucleotide expansion in exon of HTT gene leading to altered proteinChorea, preceded by personality change, present ~40 yoa(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)
Germline mutation of p53 tumor suppressor geneIncrease susceptibility to cancer(AD)
Long repeats in FRDA gene results in dimished frataxin and impairment in mitochondrial functioningStaggering gait, weakness(AR)
Deletion or inactivation of normally active paternal allele on chromosome 15MR, hypotonia, obesity, hypogonadism
Trinucleotide expansion in 3' UTR of DMPKOnset early adulthood, myotonia(AD)
Methylation and expression of FMR1 affected by deletion or trinucleotide repeatMacro-orchidism, large jaw, large ears(XD)
Deficiency in lysosomal enzyme beta-glucocerebrosidaseHepatospenomegaly, Gaucher's cells(AR)
Absense or dysfunction of lysosomal enzyme alpha-galactisidase APeripheral neuropathy, angiokeratomas(XR)
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Genetic Disorders Quiz

  1. by bigdawg91
  • Created Nov 19, 2009 in Science
  • Game Plays 306

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