Chromosome 1 is the designation for the largest human chromosome. People normally have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 247 million nucleotide base pairs, which are the basic units of information for DNA. It represents about 8% of the total DNA in human cells.
The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases (890 total) of any human chromosome):
- Alzheimer disease
- Alzheimer disease, type 4
- Breast cancer
- Carnitine palmitoyltransferase II deficiency
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease, type 1
- Charcot-Marie-Tooth disease, type 2
- collagenopathy, types II and XI
- congenital hypothyroidism
- Deafness, autosomal recessive deafness 36
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, kyphoscoliosis type
- Factor V Leiden thrombophilia
- Familial adenomatous polyposis
- galactosemia
- Gaucher disease
- Gaucher disease type 1
- Gaucher disease type 2
- Gaucher disease type 3
- Gaucher-like disease
- Glaucoma
- Hemochromatosis
- Hemochromatosis, type 2
- Hepatoerythropoietic porphyria
- Homocystinuria
- Hutchinson Gilford Progeria Syndrome
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death
- maple syrup urine disease
- medium-chain acyl-coenzyme A dehydrogenase deficiency
- Microcephaly
- Muckle-Wells Syndrome
- Nonsyndromic deafness
- Nonsyndromic deafness, autosomal dominant
- Nonsyndromic deafness, autosomal recessive
- Parkinson disease
- Pheochromocytoma
- porphyria
- porphyria cutanea tarda
- popliteal pterygium syndrome
- prostate cancer
- Stickler syndrome
- Stickler syndrome, COL11A1
- trimethylaminuria
- Usher syndrome
- Usher syndrome type II
- Van der Woude syndrome
- Variegate porphyria
Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome, spanning more than 237 million base pairs (the building material of DNA) and representing almost 8% of the total DNA in cells.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 2 likely contains 1,491 genes, including those of the HOXD homeobox gene cluster.
The following diseases are related to genes located on chromosome 2:
- Alport syndrome
- Alström syndrome
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis, type 2
- Congenital hypothyroidism
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, classical type
- Ehlers-Danlos syndrome, vascular type
- Harlequin type ichthyosis
- Hemochromatosis
- Hemochromatosis, type 4
- Hereditary nonpolyposis colorectal cancer
- Infantile-onset ascending hereditary spastic paralysis
- Juvenile primary lateral sclerosis
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Maturity onset diabetes of the young type 6
- Mitochondrial trifunctional protein deficiency
- Nonsyndromic deafness
- Nonsyndromic deafness, autosomal recessive
- Primary hyperoxaluria
- Primary pulmonary hypertension
- Sitosterolemia (knockout of either ABCG5 or ABCG8)
- Waardenburg syndrome
Intelligence
Recent studies suggest that genes on chromosome 2 may play an important role in human intelligence.
Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material of DNA) and represents about 6.5 percent of the total DNA in cells.
The following diseases are some of those related to genes on chromosome 3:
- 3-methylcrotonyl-CoA carboxylase deficiency
- Alkaptonuria
- Arrhythmogenic right ventricular dysplasia
- Atransferrinemia
- Autism
- Biotinidase deficiency
- Blepharophimosis, epicanthus inversus and ptosis type 1
- Breast/colon/lung/pancreatic cancer
- Brugada syndrome
- Carnitine-acylcarnitine translocase deficiency
- Cataracts
- Cerebral cavernous malformation
- Charcot-Marie-Tooth disease, type 2
- Charcot-Marie-Tooth disease
- Chromosome 3q duplication syndrome
- Coproporphyria
- Deafness
- Diabetes
- Dopamine receptor
- Dystrophic epidermolysis bullosa
- Endplate acetlycholinesterase deficiency
- Essential tremors
- Glaucoma, primary open angle
- Glycogen storage disease
- Hailey-Hailey disease
- Harderoporphyrinuria
- Heart block, progressive/nonprogressive
- Hereditary coproporphyria
- Hereditary nonpolyposis colorectal cancer
- HIV infection, susceptibility/resistance to
- Hypobetalipoproteinemia, familial
- Leukoencephalopathy with vanishing white matter
- Long QT syndrome
- Lymphomas
- Malignant hyperthermia susceptibility
- Metaphyseal chondrodysplasia, Murk Jansen type
- Moebius syndrome
- Moyamoya disease
- Mucopolysaccharidosis
- Muir-Torre family cancer syndrome
- Myotonic dystrophy, type 2
- Myotonic dystrophy
- Neuropathy, hereditary motor and sensory, Okinawa type
- Night blindness
- Nonsyndromic deafness, autosomal recessive
- Nonsyndromic deafness
- Ovarian cancer
- Porphyria
- Propionic acidemia
- Protein S deficiency
- Pseudo-Zellweger syndrome
- Romano-Ward syndrome
- Septo-optic dysplasia
- Short stature
- Spinocerebellar ataxia
- Sucrose intolerance
- T-cell leukemia translocation altered gene
- Usher syndrome type III
- Usher syndrome (Finland)
- Usher syndrome
- von Hippel-Lindau syndrome
- Waardenburg syndrome
- Xeroderma pigmentosum, complementation group c
Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs (the building material of DNA) and represents between 6 and 6.5 percent of the total DNA in cells.
The following are some of the diseases related to genes located on chromosome 4:
- achondroplasia
- bladder cancer
- Crouzonodermoskeletal syndrome
- Chronic Lymphocytic Leukemia
- Ellis-van Creveld syndrome
- Fibrodysplasia ossificans progessiva FOP
- Hemophilia C
- Huntington’s disease
- Hemolytic Uremic Syndrome
- Hirschprung’s disease
- hypochondroplasia
- methylmalonic acidemia
- Muenke syndrome
- nonsyndromic deafness
- nonsyndromic deafness, autosomal dominant
- Ondine’s Curse
- Parkinsons disease
- polycystic kidney disease
- Romano-Ward syndrome
- SADDAN
- tetrahydrobiopterin deficiency
- thanatophoric dysplasia
- thanatophoric dysplasia, type 1
- thanatophoric dysplasia, type 2
- Wolfram syndrome
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 181 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Chromosome 5 is one of the largest human chromosomes, yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained.
The following are some of the diseases related to genes located on chromosome 5:
- Achondrogenesis type 1B
- Atelosteogenesis, type II
- Cockayne syndrome
- Cornelia de Lange syndrome
- Cri du Chat
- Diastrophic dysplasia
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, dermatosparaxis type
- Familial adenomatous polyposis
- GM2-gangliosidosis, AB variant
- Homocystinuria
- 3-Methylcrotonyl-CoA carboxylase deficiency
- Nicotine dependency
- Parkinson’s disease
- Primary carnitine deficiency
- Recessive multiple epiphyseal dysplasia
- Sandhoff disease
- Spinal muscular atrophy
- Sotos Syndrome
- Treacher Collins syndrome
- Usher syndrome
- Usher syndrome type II
Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It contains the Major Histocompatibility Complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation.
The following diseases are some of those related to genes on chromosome 6:
- ankylosing spondylitis, HLA-B
- collagenopathy, types II and XI
- Coeliac disease, HLA-DQA1 & DQB1
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, classical type
- Ehlers-Danlos syndrome, hypermobility type
- Hashimoto’s thyroiditis
- hemochromatosis
- hemochromatosis, type 1
- 21-hydroxylase deficiency
- maple syrup urine disease
- methylmalonic acidemia
- nonsyndromic deafness
- nonsyndromic deafness, autosomal dominant
- nonsyndromic deafness, autosomal recessive
- otospondylomegaepiphyseal dysplasia
- Parkinson disease
- polycystic kidney disease
- porphyria
- porphyria cutanea tarda
- Rheumatoid arthritis, HLA-DR
- Stickler syndrome, COL11A2
- Systemic lupus erythematosus
- Diabetes mellitus type 1, HLA-DR, DQA1 & DQB1
- X-linked sideroblastic anemia
- Epilepsy
Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 spans more than 158 million base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells.
The following diseases are some of those related to genes on chromosome 7:
- argininosuccinic aciduria
- cerebral cavernous malformation
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease, type 2
- citrullinemia
- congenital bilateral absence of vas deferens
- cystic fibrosis
- distal spinal muscular atrophy, type V
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, arthrochalasia type
- Ehlers-Danlos syndrome, classical type
- hemochromatosis
- hemochromatosis, type 3
- hereditary nonpolyposis colorectal cancer
- lissencephaly
- maple syrup urine disease
- maturity onset diabetes of the young type 2
- mucopolysaccharidosis type VII or Sly syndrome
- myelodysplastic syndrome
- nonsyndromic deafness
- nonsyndromic deafness, autosomal dominant
- nonsyndromic deafness, autosomal recessive
- osteogenesis imperfecta
- osteogenesis imperfecta, type I
- osteogenesis imperfecta, type II
- osteogenesis imperfecta, type III
- osteogenesis imperfecta, type IV
- p47-phox-deficient chronic granulomatous disease
- Pendred syndrome
- Romano-Ward syndrome
- Shwachman-Diamond syndrome
- Schizophrenia
- Williams syndrome
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells.
The chromosome has two arms, 8p and 8q. The short arm, 8p, has about 45 million base pairs, about 1.5% of the genome, and includes 484 genes and 110 pseudogenes; about 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. A unique feature of 8p is a big region of about 15 megabases that appears to have a high mutation rate, and which shows an immense divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain.
The following diseases are some of those related to genes on chromosome 8:
- Burkitt’s lymphoma
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease, type 2
- Charcot-Marie-Tooth disease, type 4
- Cleft lip and palate
- Congenital hypothyroidism
- Lipoprotein lipase deficiency, familial
- Primary microcephaly
- Hereditary Multiple Exostoses
- Pfeiffer syndrome
- Rothmund-Thomson syndrome, or poikiloderma congenitale
- Schizophrenia, associated with 8p21-22 locus
- Waardenburg syndrome
- Werner syndrome
- Pingelapese blindness
- Langer-Giedion Syndrome
Chromosome 9 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 145 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.
The following diseases are some of those related to genes on chromosome 9:
- ALAD deficiency porphyria
- amyotrophic lateral sclerosis (ALS)
- citrullinemia
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, classical type
- familial dysautonomia
- Friedreich ataxia
- galactosemia
- Gorlin syndrome or Nevoid Basal Cell Carcinoma syndrome
- hereditary hemorrhagic telangiectasia
- Nail-patella syndrome (NPS)
- nonsyndromic deafness
- nonsyndromic deafness, autosomal dominant
- nonsyndromic deafness, autosomal recessive
- porphyria
- primary hyperoxaluria
- tetrasomy 9p
- thrombotic thrombocytopenic purpura
- trisomy 9
- tuberous sclerosis
There are 23 pairs of human chromosomes. We’ll continue with chromosome 10 and the rest of it the next time.
Cheers!
