Genetic Disorders

Random Science Quiz

Can you name the Genetic Disorders?

Quiz not verified by Sporcle

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

Friend Scores


  Player Best Score Plays Last Played
You You haven't played this game yet.

You Might Also Like...

Extras