Wednesday, June 2, 2010

Muscular, non-neoplastic, Dysmorphology

6A Dystrophin (Duchenne/Becker muscular dystrophy)
6B DMPK (Myotonic dystrophy, type 1)
6C ZNF-9 (Myotonic dystrophy, type 2)
6D SMN (Autosomal recessive spinal muscular atrophy)
6Z Muscular, not otherwise specified

Metabolic, other

7A Apolipoprotein E (Cardiovascular disease,
Alzheimer’s disease)
7B Sphingomyelin phosphodiesterase (Nieman-Pick
disease)
7C Acid Beta Glucosidase (Gaucher disease)
7D HFE (Hemochromatosis)
7E Hexosaminidase A (Tay-Sachs disease)
7Z Metabolic, other, not otherwise specified

Metabolic, transport modifiers
8A CFTR (Cystic fibrosis)
8Z Metabolic, transport, not otherwise specified Metabolic-pharmacogenetics
9A TPT (thiopurine methyltransferase) (patients on antimetabolite therapy)
9L Metabolic-pharmacogenetics, not otherwise specified

Dysmorphology
9M FGFR1 (Pfeiffer and Kallmann syndrome)
9N FGFR2 (Crouzon, Jackson-Weiss, Apert, Saethre- Chotzen syndromes)
9O FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, types I and II, Crouzon
syndrome with acanthosis nigricans, Muencke syndromes)
9P TWIST (Saethre-Chotzen syndrome)
9Q Catch-22 (22q11 deletion syndromes)
9Z Dysmorphology not otherwise specified

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