MEN, Multiple endocrine neoplasia. ∗Fabry disease is the exception to the rule that the sphingolipidosis disorders are autosomal recessive. †Hunter disease is the exception to the rule that the mucolipopolysaccharidase disorders are autosomal recessive.
Genetics
1 Specify how the following disorders are usually transmitted genetically. The choices are autosomal dominant or recessive, X-linked recessive, chromosomal disorder, or polygenic disorder.
DISORDER
INHERITANCE PATTERN
von Willebrand disease
Autosomal dominant
Neurofibromatosis
Autosomal dominant
MEN I/II syndrome
Autosomal dominant
Achondroplasia
Autosomal dominant
Sphingolipidoses (Tay-Sachs disease, Gaucher disease)
Autosomal recessive
Fabry disease∗
X-linked recessive
Mucopolysaccharidoses (e.g., Hurler disease)
Autosomal recessive
Hunter disease†
X-linked recessive
Glycogen storage diseases (e.g., McArdle disease)
Autosomal recessive
Cystic fibrosis
Autosomal recessive
Marfan syndrome
Autosomal dominant
Huntington disease
Autosomal dominant
Pyloric stenosis
Polygenic disorder
Cleft lip/palate
Polygenic disorder
Type 2 diabetes
Polygenic disorder
Down syndrome
Chromosomal disorder (trisomy 21)
Familial hypercholesterolemia
Autosomal dominant
Galactosemia
Autosomal recessive
Amino acid disorders (e.g., phenylketonuria)
Autosomal recessive
Edward syndrome
Chromosomal disorder (trisomy 18)
Sickle cell disease
Autosomal recessive
Hemophilia
X-linked recessive
Glucose-6-phosphatase deficiency
X-linked recessive
Patau syndrome
Chromosomal disorder (trisomy 13)
Lesch-Nyhan syndrome
X-linked recessive
Obesity
Polygenic disorder
Neural tube defects
Polygenic disorder
Turner syndrome
Chromosomal disorder (XO)
Schizophrenia
Polygenic disorder
Duchenne muscular dystrophy
X-linked recessive
Wiskott-Aldrich syndrome
X-linked recessive
Bruton agammaglobulinemia
X-linked recessive
Fragile X syndrome
X-linked recessive
Children’s polycystic kidney disease
Autosomal recessive
Wilson disease
Autosomal recessive
Bipolar disorder
Polygenic disorder
Ischemic heart disease
Polygenic disorder
Alcoholism
Polygenic disorder
Hemochromatosis
Autosomal recessive
Adrenogenital syndrome (e.g., 21-hydroxylase deficiency)
Autosomal recessive
Familial polyposis coli
Autosomal dominant
Adult polycystic kidney disease
Autosomal dominant
Hereditary spherocytosis
Autosomal dominant
Tuberous sclerosis
Autosomal dominant
Myotonic dystrophy
Autosomal dominant
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