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

  1. by bigdawg91
  • Created Nov 19, 2009 in Science
  • Game Plays 307

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