Chromosome 5

Genes

Number of genes

Gene list

Diseases and disorders

• Achondrogenesis type 1B
• Atelosteogenesis, type II
• Bosch-Boonstra-Schaaf optic atrophy syndrome
• Charcot–Marie–Tooth disease, type 4
• Cockayne syndrome
• Cornelia de Lange syndrome
• Corneal dystrophy of Bowman layer
• Cri du chat
• Diastrophic dysplasia
• Ehlers-Danlos syndrome
• Familial adenomatous polyposis
• Granular corneal dystrophy type I
• Granular corneal dystrophy type II
• GM2-gangliosidosis, AB variant
• Homocystinuria
• 3-Methylcrotonyl-CoA carboxylase deficiency
• Myelodysplastic syndrome
• Netherton syndrome
• Nicotine dependency
• Parkinson's disease
• Primary carnitine deficiency
• Recessive multiple epiphyseal dysplasia
• Sandhoff disease
• Spinal muscular atrophy
• Sotos Syndrome
• Survival motor neuron spinal muscular atrophy
• Treacher Collins syndrome
• Tricho-hepato-enteric syndrome
• Usher syndrome

  Chromosomal conditions

• Cri-du-chat syndrome is caused by a deletion of the end of the short arm of chromosome 5. This chromosomal change is written as 5p-. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes in this region. Researchers have not identified all of these genes or determined how their loss leads to the features of the disorder. They have discovered, however, that a larger deletion tends to result in more severe mental retardation and developmental delays in people with cri-du-chat syndrome.
• Familial Adenomatous Polyposis is caused by a deletion of the APC tumor suppressor gene on the long arm of chromosome 5. This chromosomal change results in thousands of colonic polyps which gives the patient a 100% risk of colon cancer if total colectomy is not done.
• Chromosome 5q deletion syndrome is caused by the deletion of the q arm of chromosome 5. This deletion has been linked to several blood related disorders including Myelodysplastic syndrome and Erythroblastopenia. This is a different condition than Cri-du-chat which was mentioned above.
• Other changes in the number or structure of chromosome 5 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other medical problems. Changes to chromosome 5 include an extra segment of the short or long arm of the chromosome in each cell, a missing segment of the long arm of the chromosome in each cell, and a circular structure called ring chromosome 5. A ring chromosome occurs when both ends of a broken chromosome are reunited.

  Cytogenetic band