Chromosome 3 Related Diseases

By Dr Ananya Mandal, MD

The third largest of the 23 pairs of chromosomes found in human cells is chromosome 3. It represents around 6.5% to 7% of the genetic material in the human genome and spans almost 200 million base pairs, the building blocks of DNA.

Some of the diseases related to chromosome 3 include:

  • 3-methylcrotonyl-CoA carboxylase deficiency
  • Alkaptonuria
  • Arrhythmogenic right ventricular dysplasia
  • Atransferrinemia
  • Autism
  • Cataract
  • Deafness
  • Thyroid hormone resistance
  • Chondrodysplasia, Blomstrand type
  • Breast cancer
  • Brugada syndrome
  • Carnitine-acylcarnitine translocase deficiency
  • Cerebral cavernous malformation
  • Charcot-Marie-Tooth disease
  • Chromosome 3q duplication syndrome
  • Colon cancer
  • Congenital Sucrase-isomaltase deficiency
  • Coproporphyria
  • Biotinidase deficiency
  • Dystrophic epidermolysis bullosa
  • Eiken syndrome
  • Endplate acetlycholinesterase deficiency
  • Essential tremor
  • Fanconi-Bickel syndrome
  • Forebrain defects
  • Glaucoma
  • Hailey-Hailey disease
  • Heart block
  • Hypobetalipoproteinemia
  • Juvenile-onset cataract
  • Leukoencephalopathy with vanishing white matter (VWM disease)
  • Long QT syndrome
  • Low birth weight
  • Lung cancer
  • Lymphoma
  • Malignant hyperthermia
  • Membranous glomerulonephritis
  • Muir-Torre syndrome
  • Jansen's metaphyseal chondrodysplasia
  • Myotonic dystrophy
  • Neutral endopeptidase deficiency
  • Noninsulin-dependent diabetes mellitus
  • Nonsyndromic deafness
  • Porphyria
  • Premature ovarian failure
  • Primary failure of tooth eruption
  • Progressive polymorphic cortical cataract
  • Propionic acidemia
  • Protein S deficiency
  • Pseudo-Zellweger syndrome
  • Pyruvate dehydrogenase E1-beta deficiency
  • Resistance to thyroid hormone
  • Romano-Ward syndrome
  • Septo-optic dysplasia
  • Spinocerebellar ataxia
  • Osteoarthritis
  • T-cell leukemia translocation altered gene
  • Blepharophimosis, epicanthus inversus, and ptosis
  • Blepharophimosis, epicanthus inversus, and ptosis
  • Pontocerebellar hypoplasia
  • Gangliosidosis
  • Congenital disorder of glycosylation type Id
  • Morquio syndrome
  • Usher syndrome type III
  • Vesicoureteral reflux
  • Von Hippel-Lindau syndrome
  • Waardenburg syndrome
  • Xeroderma pigmentosum

Reviewed by , BSc

Further Reading

Last Updated: Jan 20, 2014

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