Genetic Disorders and Diseases

What are monogenic diseases?

Monogenic diseases are caused by mutations in a single gene, with over 20,000 known Mendelian traits. Examples include cystic fibrosis, PKU, and Tay-Sachs disease.

What are structural protein anomalies in monogenic diseases?

Structural protein anomalies involve defects in proteins like collagen and elastin, leading to disorders such as osteogenesis imperfecta and Ehlers-Danlos syndrome.

What are functional protein anomalies in monogenic diseases?

Functional protein anomalies affect physiological proteins, such as hemoglobin in sickle cell anemia or CFTR in cystic fibrosis.

What are enzyme abnormalities in monogenic diseases?

Enzyme abnormalities result from gene mutations affecting enzyme function, leading to metabolic disorders like phenylketonuria (PKU) and Gaucher disease.

What are chromosomal diseases?

Chromosomal diseases are caused by structural or numerical abnormalities of chromosomes, such as Down syndrome (trisomy 21), Turner syndrome (45, X), and Klinefelter syndrome (47, XXY).

What are multifactorial diseases?

Multifactorial diseases result from the interaction of multiple genes and environmental factors, including coronary heart disease, diabetes, and hypertension.

What is Tay-Sachs disease?

Tay-Sachs disease is an autosomal recessive lysosomal storage disorder caused by mutations in the HEXA gene, leading to neurodegeneration due to GM2 ganglioside accumulation.

What is cystic fibrosis and the role of the CFTR gene?

Cystic fibrosis is an autosomal recessive disorder caused by CFTR gene mutations, leading to thick mucus production affecting the lungs and pancreas.

What is phenylketonuria (PKU)?

PKU is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase, leading to toxic buildup of phenylalanine and intellectual disability if untreated.

What is Marfan syndrome?

Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene, affecting the cardiovascular system, skeleton, and eyes.

What is fragile X syndrome?

Fragile X syndrome is an X-linked dominant disorder caused by a CGG repeat expansion in the FMR1 gene, resulting in intellectual disability and autism spectrum features.

What is Turner syndrome?

Turner syndrome (45, X) is a chromosomal disorder in females characterized by short stature, lymphedema, and ovarian dysfunction due to a missing X chromosome.

What is Klinefelter syndrome?

Klinefelter syndrome (47, XXY) is a chromosomal disorder in males associated with hypogonadism, infertility, and tall stature due to an extra X chromosome.

What is G6PD deficiency?

G6PD deficiency is an X-linked recessive enzymatic disorder leading to hemolytic anemia under oxidative stress, such as fava bean ingestion or certain medications