Table of Single Gene Defects



Autosomal Dominant:


Alpha 1 Anti-Trypsin Deficiency

Achondroplasia Familial

Adenomatous

Polyposis

Familial Hypercholesterolemia

Huntington's Disease

Machado-Joseph Disease

Marfan Syndrome

Neurofibromatosis

Osteogenesis Imperfecta

Otosclerosis

Pick's Disease

Polycystic Kidney Disease (adults)

Porphyria

Von Willebrand's Disease
Autosomal Recessive:

Cystic Fibrosis

Hereditary Hemochromatosis

Phenylketonuria

Polycystic Kidney Disease (infants)

Sickle Cell Anemia

Tay-Sach's Disease


X-linked Dominant:

Coffin-Lowry syndrome

Familial Rickets

Hereditary Nephritis

Hypospadias

Incontinentia Pigmenti

Rett Syndrome


X-linked Recessive:

G6PD

Becker Muscular Dystrophy

Chronic Granulomatous Disease

Deuteranopia

Duchenne Muscular Dystrophy

Fragile-X Syndrome

Hemophilia

Progressive Spinobulbar muscular atrophy

Protanopia

Red-green color blindness

Wiskott-Aldrich Syndrome

X-Linked Agammaglobulinemia

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