Chromosome 5 Related Diseases

There are 180.9 million base pairs on chromosome 5 that make up 923 genes. Chromosome 5 is one of the largest human chromosomes but has a relatively low gene density owing to the significant proportions of noncoding areas of the gene. Sixty-six of the genes are known to be involved in human disease if they are mutated and fourteen diseases are thought to be related to chromosome 5 but have not yet been mapped to specific genes.

Some of the diseases caused by chromosome 5 gene mutations include:

  • 3-Methylcrotonyl-CoA carboxylase deficiency
  • Achondrogenesis type 1B
  • Adult-onset autosomal dominant leukodystrophy
  • Atelosteogenesis
  • Attention-deficit hyperactivity disorder
  • Cockayne syndrome type A
  • Corneal dystrophy of Bowman layer
  • Cornelia de Lange syndrome
  • Cri du Chat syndrome
  • D-bifunctional protein deficiency
  • Diastrophic dysplasia
  • Dilated Cardiomyopathy 1L
  • Distal hereditary motor Neuronopathy, type IIC
  • Ehlers-Danlos syndrome
  • Familial adenomatous polyposis
  • GM2-gangliosidosis
  • Granular corneal dystrophy type I and type II
  • Homocystinuria
  • Infantile Parkinsonism-dystonia
  • Inflammatory bowel disease
  • Major affective disorder
  • Megaloblastic anemia due to dihydrofolate reductase deficiency
  • Parkinson's disease
  • Perrault syndrome
  • Primary carnitine deficiency
  • Recessive multiple epiphyseal dysplasia
  • Sandhoff disease
  • Sotos Syndrome
  • Spinal muscular atrophy
  • Succinyl CoA:3-oxoacid CoA transferase deficiency
  • Survival motor neuron spinal muscular atrophy
  • Treacher Collins syndrome
  • Usher syndrome type II
  • Dyskeratosis congenita
  • Hereditary lymphedema
  • Somatic capillary infantile hemangioma

Further Reading

Last Updated: Aug 23, 2018



  1. Mashia Pfeffer Mashia Pfeffer United States says:

    Psoriatic Arthritis

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