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Chromosomes & Enzymes
Where in the world is the chromosome/enzyme mutation?
33
Other
Not Applicable
05/10/2006
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Term
SCID
 Definition
ADA df (adenosine deaminase-part of purine salvage)
Term
Lesch-Nyhan Syndrome
 Definition
HGPTRase (Purine salvage pathway)
Term
Von Gierke's Disease
 Definition
Glucose-6-phosphatase (glycogen storage)
Term
Pompe's Disease
 Definition
Lysosomal alpha-1,4 glucosidase (glucogen storage)
Term
Cori's Disease
 Definition
Debranching enzyme (alpha 1,6 glucosidase, glycogen storage)
Term
McArdle's Disease
 Definition
Skeletal muslce glycogen phosphorylase (glycogen storage disease)
Term
Fabry's Disease
 Definition
alpha-galactosidase A (LSD)
Term
Gaucher's Disease
 Definition
Beta-glucocerebrosidase (LSD)
Term
Niemann-Pick disease
 Definition
Sphingomyelinase (LSD)
Term
Tay-sach's
 Definition
Hexoaminidase A
Term
Krabbe's Disease
 Definition
Beta-galactosidase (LSD)
Term
Metachromatic leukodystrophy
 Definition
Arylsulfatase A (LSD)
Term
Hurler's Disease
 Definition
alpha-L-iduronidase (LSD)
Term
Hunter's Disease
 Definition
Iduronate sulfate (LSD)
Term
Adult Polycystic Kidney Disease
 Definition
Chrom 16, APKD1
Term
Marfan's
 Definition
Fibrillin gene
Term
Neurofibromatosis I (von Recklinghausen's disease)
 Definition
Chrom 17 (# of letters in name)
Term
Neurofibromatosis II
 Definition
Chrom 22, NF2 gene
Term
von Hippel-Lindau Disease
 Definition
Chrom 3 (3 words), del of VHL
Term
Huntington's
 Definition
Chrom 4, triplet repeat
Term
Familial Adenomatous Polyposis
 Definition
Chrom 5 (# of letters in polyp)
Term
Achondroplasia
 Definition
FGF Receptor 3
Term
Cystic Fibrosis
 Definition
Chrom 7, defect in CFTR gene
Term
Duchenne's MD
 Definition
Dystrophin deleted
Term
Becker's MD
 Definition
Mutated dystrophin
Term
Fragile X
 Definition
Mut in methylation & expression of FMR1 gene
Term
Down Syndrome
 Definition
Chrom 21 triploidy
Term
Edwards Syndrome
 Definition
Chrom 18 trisomy
Term
Patau's Syndrome
 Definition
Chrom 13 trisomy
Term
Crie du chat
 Definition
5p deletion
Term
CATCH 22 Syndromes
 Definition
22q11 microdeletion
Term
Wolf-Hirschorn Syndrome
 Definition
4p16 deletion
Term
Miller-Dieker Syndrome
 Definition
17p13.3 microdeletion
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