Chromosome 3 Related Diseases

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

Further Reading

Last Updated: Feb 26, 2019

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.


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  1. Claudia Cianciulli Claudia Cianciulli Brazil says:

    Hi Doctor Ananya! Could you help me with my son’s exon result? It describes that he might have a pathogenicity in chromosom 3. If it is possible, I could send this exam to you.
    Many Thanks in advance

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