Genetic Diseases

Cystic fibrosis

Chronic lung infections pancreatic insufficiency Autosomal recessive CFTR gene mutation

Duchenne muscular dystrophy

Progressive muscle weakness calf pseudohypertrophy X-linked recessive dystrophin gene mutation

Huntington’s disease

Chorea cognitive decline psychiatric symptoms Autosomal dominant CAG repeat expansion

Fragile X syndrome

Intellectual disability autism-like features X-linked dominant CGG repeat expansion

Phenylketonuria (PKU)

Intellectual disability if untreated musty odor Autosomal recessive phenylalanine hydroxylase deficiency

Tay-Sachs disease

Neurodegeneration cherry-red spot on macula Autosomal recessive hexosaminidase A deficiency

Marfan syndrome

Tall stature lens dislocation aortic aneurysm risk Autosomal dominant FBN1 mutation

Neurofibromatosis type 1

Café-au-lait spots neurofibromas Lisch nodules Autosomal dominant NF1 gene mutation

Sickle cell anemia

Anemia vaso-occlusive crises Autosomal recessive hemoglobin S mutation

Beta-thalassemia

Anemia hepatosplenomegaly Autosomal recessive beta-globin gene mutations

Hemophilia A

Excessive bleeding prolonged aPTT X-linked recessive factor VIII deficiency

Alpha-1 antitrypsin deficiency

Emphysema liver disease Autosomal codominant protease inhibitor deficiency

Wilson disease

Liver disease neuropsychiatric symptoms Autosomal recessive copper accumulation

Gaucher disease

Hepatosplenomegaly bone pain Autosomal recessive glucocerebrosidase deficiency

Achondroplasia

Short stature characteristic facial features Autosomal dominant FGFR3 mutation

Prader-Willi syndrome

Hypotonia hyperphagia obesity Deletion or imprinting defect on paternal chromosome 1

Angelman syndrome

Severe intellectual disability happy demeanor Deletion or imprinting defect on maternal chromosome 1

Li-Fraumeni syndrome

Multiple early-onset cancers Autosomal dominant p

Lynch syndrome

Colorectal and other cancers Autosomal dominant mismatch repair gene mutations

Familial hypercholesterolemia

High LDL cholesterol premature CAD Autosomal dominant LDL receptor mutation

Neurofibromatosis type 2

Bilateral acoustic neuromas hearing loss Autosomal dominant NF2 gene mutation

Hereditary hemochromatosis

Iron overload liver cirrhosis Autosomal recessive HFE gene mutation

Myotonic dystrophy

Muscle weakness myotonia Autosomal dominant CTG repeat expansion

Williams syndrome

“Elfin” facial features cardiovascular problems Deletion on chromosome 7

Klinefelter syndrome

Tall stature hypogonadism infertility XXY karyotype males

Turner syndrome

Short stature webbed neck infertility Monosomy X females

Hemophilia B

Bleeding prolonged clotting times X-linked recessive factor IX deficiency

Prader-Willi syndrome

Obesity intellectual disability Paternal deletion or imprinting defect on chromosome 1

Williams syndrome

“Elfin” facial features cardiovascular problems Deletion on chromosome 7

Neurofibromatosis type 1

Café-au-lait spots neurofibromas Lisch nodules Autosomal dominant NF1 gene mutation

Huntington’s disease

Movement disorder dementia Autosomal dominant CAG repeat expansion

Achondroplasia

Dwarfism short limbs Autosomal dominant FGFR3 mutation

Fragile X syndrome

Intellectual disability autism features X-linked dominant CGG repeat expansion

Angelman syndrome

Seizures happy demeanor Maternal deletion or imprinting defect on chromosome 1

Klinefelter syndrome

Tall stature hypogonadism infertility XXY karyotype males

Turner syndrome

Short stature webbed neck infertility Monosomy X females

Sickle cell anemia

Anemia pain crises Autosomal recessive HbS mutation

Thalassemia

Anemia bone deformities Autosomal recessive globin gene mutations

Hemophilia B

Bleeding prolonged clotting times X-linked recessive factor IX deficiency

Phenylketonuria

Intellectual disability musty odor Autosomal recessive phenylalanine hydroxylase deficiency

Tay-Sachs disease

Neurodegeneration cherry-red spot Autosomal recessive hexosaminidase A deficiency

Wilson disease

Liver disease neurological symptoms Autosomal recessive copper accumulation

Gaucher disease

Hepatosplenomegaly bone pain Autosomal recessive glucocerebrosidase deficiency

Marfan syndrome

Tall stature lens dislocation aortic aneurysm risk Autosomal dominant fibrillin-1 mutation

Neurofibromatosis type 1

Café-au-lait spots neurofibromas Lisch nodules Autosomal dominant NF1 gene mutation

Achondroplasia

Dwarfism short limbs Autosomal dominant FGFR3 mutation

Li-Fraumeni syndrome

Multiple cancers Autosomal dominant p

Fragile X syndrome

Intellectual disability autism features X-linked dominant CGG repeats

Prader-Willi syndrome

Hyperphagia hypotonia Paternal deletion/imprinting defects

Angelman syndrome

Happy demeanor seizures Maternal deletion/imprinting defects