Medical Genetics - V. M. Zaporozhan 2005

Monogenic Disorders
Population frequency of monogenic diseases

The overall frequency of Monogenic Disorders in newborns across the general population is 1%. Of these, autosomal dominant conditions account for 0.5%, autosomal recessive for 0.25%, and X-linked for 0.25%, while Y-linked and mitochondrial disorders are extremely rare.

The prevalence of a monogenic disease is considered high when its population frequency is 1:10,000 or greater, moderate at 1:10,000–1:40,000, and low if it occurs at a rate of less than 1:40,000. There are no more than 15 highly prevalent monogenic disorders, which collectively account for about 50% of all patients with monogenic conditions. The most common single-Gene disorders include hereditary hemochromatosis (1:500), Lynch syndrome (hereditary non-polyposis Colorectal Cancer; 1:200–1:2,000), cystic fibrosis (1:1,600–1:3,000), neurofibromatosis (1:4,000), spinal muscular atrophy (1:6,000), myotonic dystrophy (1:7,500–1:10,000), Duchenne muscular dystrophy (1:3,500 males), Ehlers-Danlos syndrome (all forms combined, 1:5,000), fragile X syndrome (1:1,250 males and 1:2,500 females), Marfan Syndrome (1:10,000–1:15,000), phenylketonuria (1:6,800–1:10,000), and others. Frequencies are provided according to N. P. Bochkov (2001).

The frequencies of Monogenic Diseases can vary across different populations and ethnic groups.