Associated Graphics

In this section, you will be able to download illustrations associated with many of the conditions in the list of disorders section. These files provide graphic information regarding relevant biochemical pathways, which would be useful as additional learning and teaching tools for students, academics, and physicians. In addition to the normal pathway sequence, the metabolic and clinical consequences of the relevant mutation are illustrated. Click on the title of each disorder to gain access to these graphics, or use the information icon to gain access to clinical description of these disorders.

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ConditionDescription
Adenomatous Polyposis of the Colon Full details
Adrenal Hyperplasia II Full details
Adrenal Hyperplasia IV

Full details

Adrenal Hyperplasia V Full details
Albinism Type 1B

Full details

Alstrom Syndrome Full details
Androgen Insensitivity syndrome Full details
Ataxia-Telangectasia Full details
Biotin Deficiency Full details
Carnitine Palmitoyl Transferase Deficiency Full details
Cartilage-Hair Hypoplasia Full details
Cerebellar hypoplasia (VLDR-associated) Full details
Cholestasis, Familial Intrahepatic Full details
Cleidocranial Dysostosis  Full details
Congenital Hypothyroidism

Full details

Congenital nephrotic syndrome, Finnish type Full details
Congenital Sodium Diarrhea Full details
Corticosterone Methyl Oxidase Type I Deficiency Full details
Cortisol 11-Beta-Ketoreductase Deficiency Full details
Crigler Najjar Syndrome Full details
Cystic Fibrosis  Full details
Cystinosis Full details
Cystinuria Full details
Desmoid Disease  Full details
Factor V Leiden Heterozygosity  Full details
Familial Dysalbuminemic Hyperthyroxinemia Full details
Gitelman Syndrome Full details
Glutaric Aciduria Full details
Glycogen Storage Disease  Full details
GM3 Synthase Deficiency  Full details
Hemophilia B  Full details
Hereditary non-polyposis colon cancer Full details
Homocystinuria Full details
Hypercholanemia  Full details
Hypertrophic Cardiomyopathy  Full details
Hypophosphatasia  Full details
Infantile Refsum Full details
Jackson-Weiss Syndrome Full details
Leigh Syndrome Full details
Limb-girdle muscular dystrophy type 2A Full details
Limb-girdle muscular dystrophy type 2E Full details
Limb-girdle muscular dystrophy type 2H Full details
Malignant Hyperthermia Full details
Maple Syrup Urine Disease Full details
Medium Chain Acyl-CoA (MCAD) DeficiencyMedium Chain Acyl-CoA (MCAD) Deficiency‌ Full details
Methylcrotonyl-CoA Carboxylase-2 (MCCC2) Deficiency Full details
Methylmalonic Aciduria Full details
Mevalonate Kinase Deficiency Full details
Microcephaly, Amish type Full details
Mitochondrial DNA depletion syndrome Full details
Mucopolysaccharidosis, type VII Full details
Nemaline myopathy 5 (Amish type) Full details
Osteogenesis Imperfecta Type I Full details
Pantothenate Kinase 2 Deficiency Full details
Phenylketonuria Full details
Pituitary Dwarfism III Full details
Plasminogen activator inhibitor-1 deficiency Full details
Prolidase Deficiency Full details
Propionic Acidemia

Full details

Protease Inhibitor 1 Full details
Pyruvate Kinase Deficiency Full details
Severe Combined Immunodeficiency Full details
Sitosterolemia Full details
Thrombasthenia, Glanzmann Full details
Thyroid Hormone Dysgenesis Full details
Thyroid Oxidase Deficiency Full details
Tyrosinemia Full details
Von Willebrand Disease

Full details