Chromosome 3 Related Diseases

Chromosome 3 Related Diseases

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By Ananya Mandal, MDReviewed by Sally Robertson, B.Sc.

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

Sources

1. www.ncbi.nlm.nih.gov/.../maps.cgi
2. www.nhmrc.gov.au/.../07_chromosomal_conditions.pdf
3. http://onlinelibrary.wiley.com/doi/10.1038/npg.els.0005812/abstract

Further Reading

• What is Chromosome 3?

Last Updated: Aug 23, 2018