genetic diseases list disorders
List of Genetic Diseases and Disorders
Genetic diseases and disorders are the result of anomalies in a gene or an entire part of the chromosome of an individual. They may arise due to spontaneous mutations or may be inherited from the parents. The current article provides a list of such genetic diseases and disorders.
- Color blindness
- Ocular albinism
- Barth syndrome (BTHS)
- Menkes disease
- X-linked ichthyosis (XLI)
- Aarskog-Scott syndrome (AAS)
Y-linked
The diseases resulting due to defects or anomalies in genes present on the Y chromosome are termed Y-linked disorders. The Y chromosome has very genes and Y-linked genetic diseases are rarely observed. These occur only in males and the son of an affected father will always inherit the disease.
- Y chromosome infertility
- Swyer syndrome
Others
This subset include diseases that are associated with several genes but result due to mutation in any of them. Their inheritance depends on the location of the particular gene affected.
- Albinism
- Thalassemia
- Corneal dystrophy
- DiGeorge syndrome
- Waardenburg syndrome
- Ehlers-Danlos syndrome (EDS)
- Congenital hypertrichosis
- Alpha-1 antitrypsin deficiency
- Polycystic kidney disease
- Charcot-Marie-Tooth disease (CMT)
- Hemophilia
- Porphyrias
- Duane syndrome
- Proteus syndrome
- Fragile X syndrome
- Spinocerebellar ataxia
- Osteogenesis imperfecta
- Treacher Collins syndrome
- Myotonic hypertrophy
- Hutchinson-Gilford progeria syndrome
"Famous Single Gene Disorders"
» Miles Davis: Sickle cell anemia
» Woodrow Wilson "Woody" Guthrie: Huntington's disease
» Fred Rogers: Color blindness
» Vincent van Gogh: Acute intermittent porphyria
» Bob Flanagan: Cystic fibrosis
» Hemophilia: Members of the European royal family
Chromosomal Disorders
The disorders that arise due to the absence of a particular chromosome, presence of an additional chromosome or due to structural anomalies (deletions, duplication or translocation) in a chromosome are termed chromosomal disorders. Such anomalies occur randomly during the formation of an egg or sperm in the gonads, and most of them are not inheritable. However, certain structurally defective chromosomes may be inherited leading to passing of the disease from one generation to the next. The human karyotype depicting the complete set of 46 chromosomes has been given below.
- Patau syndrome
- (trisomy 13)
- Down's syndrome
- (trisomy 21)
- Edwards syndrome
- (trisomy 18)
- Williams syndrome (WS)
- (deletion 7q.11.23)
- Smith-Magenis syndrome
- (17p syndrome)
- Jacobsen syndrome
- (11q deletion disorder)
- Wolf-Hirschhorn syndrome
- (deletion 4p.16.3)
- XYY syndrome
- (Extra Y chromosome)
- Turner syndrome
- (monosomy X)
- Klinefelter syndrome
- (XXY trisomy)
- Triple X syndrome
- (XXX Syndrome)
- Cri du chat syndrome
- (5p deletion syndrome)
- Potocki-Shaffer syndrome
- (11p deletion syndrome)
- Pallister-Killian syndrome
- (tetrasomy 12p mosaicism)
"Famous Chromosomal Disorders"
» Christopher Joseph "Chris" Burke: Down's syndrome
Polygenic and Multifactorial Disorders
Genetic diseases that arise due to defects in more than one gene as well as non-genetic factors are termed polygenic or multifactorial genetic diseases. The non-genetic factors include environment, lifestyle, diet, habits, etc. These diseases often run in families but do not follow a definite pattern of inheritance. The susceptibility to these diseases with respect to the different factors has been illustrated below.
- Autism
- Diabetes mellitus
- Cancers
- Hypothyroidism
- Alzheimer's disease
- Schizophrenia
- Cerebral palsy
- Angelman syndrome
- Bardet-Biedl syndrome
- Prader-Willi syndrome
- Bipolar disorder
- Cleft lip and palate
- Hirschsprung's disease
- Macular degeneration
- Neural tube defects (NFD)
- Skeletal dysplasias
- Androgen insensitivity syndrome
- Osteoporosis
- Cardiovascular conditions
- Iron-deficiency anemia
- Addison's disease
- Parkinson's disease
- Asperger's syndrome
- Muscular dystrophy
- Lou Gehrig's disease
- Spina bifida
- Epidermolysis bullosa
- Fibromuscular dysplasia
- Guillain-Barré syndrome
- Hemochromatosis
- Pierre Robin syndrome
- Microphthalmia
- Pheochromocytoma
- Congenital/acquired hip dysplasia
"Famous Multifactorial Disorders"
» John F. Kennedy: Addison's disease
» Thomas Edison: Asperger's syndrome
» Adolf Hitler: Parkinson's disease
» Lou Gehrig: Amyotrophic lateral sclerosis (Lou Gehrig's disease)
Mitochondrial DNA-associated Disorders
Diseases that are characterized by alterations in mitochondrial function due to defects in nuclear or mitochondrial DNA (mtDNA) are collectively called mitochondrial diseases. The inheritance of these disease is often complex and depends on several factors. However, the set of diseases that arise due to mutations in mtDNA are often inherited maternally. The examples of these diseases have listed below.
- Pearson syndrome
- Kearns-Sayre syndrome (KSS)
- Leber hereditary optic neuropathy (LHON)
- Myoclonic epilepsy and ragged-red fibers (MERRF)
- Maternally-inherited diabetes and deafness (MIDD)
- Neuropathy, ataxia, and retinitis pigmentosa (NARP)
- Chronic progressive external ophthalmoplegia (CPEO)
- Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)