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Chromosome 4 Related Diseases

By Dr Ananya Mandal, MD

Chromosome 4 is the fourth largest of the 23 pairs of chromosomes in humans. Chromosome 4 spans about 186 million base pairs, the building blocks of DNA, which are tightly packed and supercoiled to form the DNA's helical structure. This chromosome represents around 6% to 6.5% of the DNA in the human genome and contains around 1000 to 1100 genes.

Some of the diseases and conditions linked to chromosome 4 include:

  • Achondroplasia and hypochondroplasia, forms of short-limbed dwarfism
  • Thanatophoric dysplasia type 1
  • Crouzon syndrome with acanthosis nigricans
  • Muenke syndrome
  • Bladder cancer
  • Colorectal cancer or bowel cancer
  • Cervical cancer
  • LADD syndrome
  • CATSHL syndrome
  • Skin lesion formation
  • Thanatophoric dysplasia type II
  • Wolf-Hirschhorn syndrome
  • Ellis-van Creveld syndrome
  • Weyers acrodental dysostosis
  • Stature QTL 13
  • Kahrizi syndrome
  • Amelogenesis imperfecta, type IB and type IC
  • Proximal renal tubular acidosis
  • Juvenile hyaline fibromatosis
  • Infantile systemic hyalinosis
  • Parkinson's disease type 1 and 4
  • Lewy body formation
  • Dementia
  • Beta-mannosidosis
  • Systemic lupus erythematosus
  • Sebaceous tumors
  • Hypomagnesemia
  • Familial hypertrophic cardiomyopathy
  • Bardet-Biedl syndrome
  • Celiac disease
  • Autoimmune disease
  • Glutaric acidemia type IIC
  • Early-onset retinal dystrophy
  • Leber congenital amaurosis
  • Juvenile retinitis pigmentosa
  • Chronic lymphocytic leukemia
  • Fibrodysplasia ossificans progessiva
  • Haemophilia C
  • Huntington's disease
  • Hemolytic uremic syndrome
  • Hirschprung's disease
  • Nonsyndromic deafness
  • Ondine's curse
  • Polycystic kidney disease
  • Romano-Ward syndrome
  • Tetrahydrobiopterin deficiency
  • Wolfram syndrome

Reviewed by , BSc

Further Reading

Last Updated: Jan 20, 2014

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