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
Sources
Further Reading
Last Updated: Aug 23, 2018
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