A genetic disorder is an illness Illness is a state of poor health. Illness is sometimes considered a synonym for disease. Others maintain that fine distinctions exist. Some have described illness as the subjective perception by a patient of an objectively defined disease caused by abnormalities in genes A gene is a unit of heredity in a living organism. It is normally a stretch of DNA that codes for a type of protein or for an RNA chain that has a function in the organism. All living things depend on genes, as they specify all proteins and functional RNA chains. Genes hold the information to build and maintain an organism's cells and pass genetic or chromosomes A chromosome is an organized structure of DNA and protein that is found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions. The word chromosome comes from the Greek χρῶμα. While some diseases A disease is an abnormal condition affecting the body of an organism. It is often construed to be a medical condition associated with specific symptoms and signs. It may be caused by external factors, such as infectious disease, or it may be caused by internal disfunctions, such as autoimmune diseases, such as cancer Cancer /ˈkænsər/ (medical term: malignant neoplasm) is a class of diseases in which a group of cells display uncontrolled growth (division beyond the normal limits), invasion (intrusion on and destruction of adjacent tissues), and sometimes metastasis (spread to other locations in the body via lymph or blood). These three malignant properties, are due in part to a genetic disorders, they can also be caused by environmental The biophysical environment is the symbiosis between the physical environment and the biological life forms within the environment, and includes all variables that comprise the Earth's biosphere. The biophysical environment can be divided into two categories: the natural environment and the built environment, with some overlap between the two factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state Zygosity refers to the similarity of genes for a trait in an organism. If both genes are the same, the organism is homozygous for the trait. If both genes are different, the organism is heterozygous for that trait. If one gene is missing, it is hemizygous, and if both genes are missing, it is nullizygous in certain environments.[1]

Contents

Single gene disorder

Prevalence of some single gene disorders[citation needed]
Disorder Prevalence (approximate)
Autosomal dominant
Familial hypercholesterolemia Familial hypercholesterolemia is a genetic disorder characterized by high cholesterol levels, specifically very high low-density lipoprotein (LDL, "bad cholesterol") levels, in the blood and early cardiovascular disease. Many patients have mutations in the LDLR gene that encodes the LDL receptor protein, which normally removes LDL from 1 in 500
Polycystic kidney disease Polycystic kidney disease is a cystic genetic disorder of the kidneys 1 in 1250
Hereditary spherocytosis As in non-hereditary spherocytosis, the spleen's hemolysis results in observational symptoms of fatigue, pallor, and jaundice 1 in 5,000
Marfan syndrome Marfan syndrome is a genetic disorder of the connective tissue 1 in 4,000 [2]
Huntington disease Huntington's disease, chorea, or disorder , is a progressive neurodegenerative genetic disorder, which affects muscle coordination and leads to cognitive decline and dementia. It typically becomes noticeable in middle age. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea and is much more common in people 1 in 15,000 [3]
Autosomal recessive
Sickle cell anemia Sickle-cell disease, or sickle-cell anaemia , is a life-long blood disorder characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various complications. The sickling occurs because of a mutation in the hemoglobin gene. Life expectancy is shortened, with 1 in 625 (African Americans)
Cystic fibrosis Cystic Fibrosis is a common hereditary disease which affects the entire body, causing progressive disability and often early death. The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from 1 in 2,000 (Caucasians)
Tay-Sachs disease Tay-Sachs disease is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease, it presents a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four 1 in 3,000 (American Jews)
Phenylketonuria Phenylketonuria is an autosomal recessive genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH).:541 This enzyme is necessary to metabolize the amino acid phenylalanine ('Phe') to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known 1 in 12,000
Mucopolysaccharidoses 1 in 25,000
Glycogen storage diseases Glycogen storage disease is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is 1 in 50,000
Galactosemia Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia is not related to and should not be confused with lactose intolerance. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate 1 in 57,000
X-linked
Duchenne muscular dystrophy Duchenne muscular dystrophy is a severe recessive X-linked form of muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies. In general, only males are afflicted, though females 1 in 7,000
Hemophilia 1 in 10,000
Values are for liveborn infants

A single gene disorder is the result of a single mutated Mutations are changes in the DNA sequence of a cell's genome and are caused by radiation, viruses, transposons and mutagenic chemicals, as well as errors that occur during meiosis or DNA replication. They can also be induced by the organism itself, by cellular processes such as hypermutation gene. There are estimated to be over 4000 human diseases caused by single gene defects. Single gene disorders can be passed on to subsequent generations in several ways. Genomic imprinting Genomic imprinting is a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. It is an inheritance process independent of the classical Mendelian inheritance. Imprinted genes are either expressed only from the allele inherited from the mother , or in other instances from the allele inherited from the father and uniparental disomy Uniparental disomy occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent, however, may affect inheritance patterns. The divisions between recessive and dominant types are not "hard and fast" although the divisions between autosomal An autosome is a chromosome that is not a sex chromosome – that is to say there are an equal number of copies of the chromosome in males and females. For example, in humans, there are twenty-two pairs of autosomes, and, in addition, there are the X and Y sex chromosomes and X-linked types are (since the latter types are distinguished purely based on the chromosomal location of the gene). For example, achondroplasia Achondroplasia dwarfism is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3-1/2 inches) for males and 123 cm (4 feet, 1/2 inch) for females is typically considered a dominant disorder, but children with two genes for achondroplasia have a severe skeletal disorder that achondroplasics could be viewed as carriers of. Sickle-cell anemia Sickle-cell disease, or sickle-cell anaemia , is a life-long blood disorder characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various complications. The sickling occurs because of a mutation in the hemoglobin gene. Life expectancy is shortened, with is also considered a recessive condition, but heterozygous Zygosity refers to the similarity of genes for a trait in an organism. If both genes are the same, the organism is homozygous for the trait. If both genes are different, the organism is heterozygous for that trait. If one gene is missing, it is hemizygous, and if both genes are missing, it is nullizygous carriers have increased immunity to malaria Malaria is a mosquito-borne infectious disease caused by a eukaryotic protist of the genus Plasmodium. It is widespread in tropical and subtropical regions, including parts of the Americas , Asia, and Africa. Each year, there are approximately 350–500 million cases of malaria, killing between one and three million people, the majority of whom in early childhood, which could be described as a related dominant condition.[citation needed] When a couple where one partner or both are sufferers or carriers of a single gene disorder and wish to have a child they can do so through IVF whichs means they can then have PDG (Pre-Implantation Genetic Diagnosis) to check whether the fertilised egg has had the genetic disorder passed on.[4]

Autosomal dominant

Main article: Autosomal dominant#Autosomal dominant gene Dominance in genetics is a relationship between different forms of a gene at a particular physical location (locus) on a chromosome

Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent. There is a 50% chance that a child will inherit the mutated gene. Conditions that are autosomal dominant often have low penetrance Penetrance is a term used in genetics to describe the proportion of individuals carrying a particular variation of a gene that also express an associated trait (phenotype). In medical genetics, the penetrance of a disease causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms. For example, if a mutation, which means that although only one mutated copy is needed, a relatively small proportion of those who inherit that mutation go on to develop the disease. Examples of this type of disorder are Huntington's disease Huntington's disease, chorea, or disorder , is a progressive neurodegenerative genetic disorder, which affects muscle coordination and some cognitive functions, typically becoming noticeable in middle age. It is the most common genetic cause of abnormal involuntary writhing movements called chorea and is much more common in people of Western, Neurofibromatosis 1 Neurofibromatosis type I , formerly known as as von Recklinghausen disease after the researcher who first documented the disorder, is a human genetic disorder. NF-1 is the most common inherited disorder caused by a single gene, Marfan Syndrome Marfan syndrome is a genetic disorder of the connective tissue, Hereditary nonpolyposis colorectal cancer Lynch syndrome is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair, and Hereditary multiple exostoses, which is a highly penetrant autosomal dominant disorder. Birth defects are also called congenital anomalies.

Autosomal recessive

Main article: Autosomal dominant#Autosomal recessive allele Dominance in genetics is a relationship between different forms of a gene at a particular physical location (locus) on a chromosome

Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder. Examples of this type of disorder are cystic fibrosis Cystic Fibrosis is a common hereditary disease which affects the entire body, causing progressive disability and often early death. The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from, sickle-cell disease Sickle-cell disease, or sickle-cell anaemia , is a life-long blood disorder characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various complications. The sickling occurs because of a mutation in the hemoglobin gene. Life expectancy is shortened, with (also partial sickle-cell disease), Tay-Sachs disease Tay-Sachs disease is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease, it presents a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four, Niemann-Pick disease Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases (LSDs).:536, spinal muscular atrophy Spinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy (wasting away) and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness. These patients often require comprehensive medical care involving, Roberts Syndrome, and Dry (otherwise known as "rice-brand") earwax Earwax, also known by the medical term cerumen, is a yellowish waxy substance secreted in the ear canal of humans and many other mammals. It protects the skin of the human ear canal, assists in cleaning and lubrication, and also provides some protection from bacteria, fungi, insects and water. Excess or impacted cerumen can press against the.[5]

X-linked dominant

Main article: X-linked dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. In medicine, X-linked dominant inheritance indicates that a gene responsible for a genetic disorder is

X-linked dominant disorders are caused by mutations in genes on the X chromosome The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals . It is a part of the XY sex-determination system and X0 sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in. Only a few disorders have this inheritance pattern, with a prime example being X-linked hypophosphatemic rickets. Males and females are both affected in these disorders, with males typically being more severely affected than females. Some X-linked dominant conditions such as Rett syndrome Rett syndrome is a neurodevelopmental disorder affecting grey matter. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements such as mouthing or wringing are also noted. Girls with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically, Incontinentia Pigmenti Incontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, and nails. It is also known as Bloch-Sulzberger disease:548, Bloch Siemens syndrome, melanoblastosis cutis and naevus pigmentosus systematicus type 2 and Aicardi Syndrome Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only are usually fatal in males either in utero or shortly after birth, and are therefore predominantly seen in females. Exceptions to this finding are extremely rare cases in which boys with Klinefelter Syndrome Klinefelter's syndrome, 47, XXY or XXY syndrome is a condition in which males have an extra X sex chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome. Klinefelter's syndrome is the most common sex chromosome disorder and the second most common (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity. The chance of passing on an X-linked dominant disorder differs between men and women. The sons of a man with an X-linked dominant disorder will all be unaffected (since they receive their father's Y chromosome), and his daughters will all inherit the condition. A woman with an X-linked dominant disorder has a 50% chance of having an affected fetus with each pregnancy, although it should be noted that in cases such as Incontinentia Pigmenti Incontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, and nails. It is also known as Bloch-Sulzberger disease:548, Bloch Siemens syndrome, melanoblastosis cutis and naevus pigmentosus systematicus only female offspring are generally viable. In addition, although these conditions do not alter fertility per se, individuals with Rett syndrome Rett syndrome is a neurodevelopmental disorder affecting grey matter. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements such as mouthing or wringing are also noted. Girls with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically or Aicardi syndrome Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only rarely reproduce.[citation needed]

X-linked recessive

Main article: X-linked recessive X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males (who are necessarily hemizygous for the gene mutation because they have only one X chromosome) and (2) in females who are homozygous for the gene mutation (i.e., they have a copy of the gene

X-linked recessive conditions are also caused by mutations in genes on the X chromosome. Males are more frequently affected than females, and the chance of passing on the disorder differs between men and women. The sons of a man with an X-linked recessive disorder will not be affected, and his daughters will carry one copy of the mutated gene. A woman who is a carrier of an X-linked recessive disorder (XRXr) has a 50% chance of having sons who are affected and a 50% chance of having daughters who carry one copy of the mutated gene and are therefore carriers. X-linked recessive conditions include the serious diseases Hemophilia A, Duchenne muscular dystrophy, and Lesch-Nyhan syndrome as well as common and less serious conditions such as male pattern baldness and red-green color blindness.

Y-linked

Main article: Y linkage

Y-linked disorders are caused by mutations on the Y chromosome. Because males inherit a Y chromosome from their fathers, every son of an affected father will be affected. Because females inherit an X chromosome from their fathers, female offspring of affected fathers are never affected.

Since the Y chromosome is relatively small and contains very few genes, there are relatively few Y-linked disorders.[citation needed] Often the symptoms include infertility, which may be circumvented with the help of some fertility treatments. Examples are Male Infertility and hypertrichosis pinnae.[citation needed]

Mitochondrial

Main article: Mitochondrial disease

This type of inheritance, also known as maternal inheritance, applies to genes in mitochondrial DNA. Because only egg cells contribute mitochondria to the developing embryo, only mothers can pass on mitochondrial conditions to their children. An example of this type of disorder is Leber's Hereditary Optic Neuropathy.

Multifactorial and polygenic (complex) disorders

Genetic disorders may also be complex, multifactorial or polygenic, this means that they are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. Multifactoral disorders include heart disease and diabetes. Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. This makes it difficult to determine a person’s risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified.

On a pedigree, polygenic diseases do tend to “run in families”, but the inheritance does not fit simple patterns as with Mendelian diseases. But this does not mean that the genes cannot eventually be located and studied. There is also a strong environmental component to many of them (e.g., blood pressure).

Prognosis and treatment of genetic disorders

See also: Huntington's disease clinical research

Genetic disorders rarely have effective treatments, though gene therapy is being tested as a possible treatment for some genetic diseases, including some forms of retinitis pigmentosa[6]

See also

References

  1. ^ WGBH Educational Foundation
  2. ^ Keane MG, Pyeritz RE (May 2008). "Medical management of Marfan syndrome". Circulation 117 (21): 2802–13. doi:10.1161/CIRCULATIONAHA.107.693523. PMID 18506019. http://circ.ahajournals.org/cgi/content/full/117/21/2802.
  3. ^ Walker FO (2007). "Huntington's disease". Lancet 369 (9557): 221. doi:10.1016/S0140-6736(07)60111-1. PMID 17240289.
  4. ^ Kuliev A, Verlinsky Y (2005). . Curr. Opin. Obstet. Gynecol. 17 (2): 179–83. doi:10.1097/01.gco.0000162189.76349.c5. PMID 15758612. . Retrieved 2009-04-01.
  5. ^ Wade, Nicholas (January 29, 2006). "Japanese Scientists Identify Ear Wax Gene". New York Times.
  6. ^ Retinitis Pigmentosa: Treatment & Medication, eMedicine WebMD, 2009-09-19, accessed 2010-03-31.
  7. ^ Gaucher's disease:Treatments and drugs, eMedicine WebMD, 2009-07-11, accessed 2010-03-31.

External links

Genetic disorder: Transcription factor/coregulator deficiencies
(1) Basic domains none
(2) Zinc finger DNA-binding domains Greig cephalopolysyndactyly syndrome · Pallister-Hall syndrome · X-linked adrenal hypoplasia congenita · Autoimmune polyendocrine syndrome type 1
(3) Helix-turn-helix domains Waardenburg syndrome 1 · Developmental dyspraxia · IPEX · Nail–patella syndrome · SPD1 Synpolydactyly · Mowat-Wilson syndrome
(4) β-Scaffold factors with minor groove contacts Campomelic dysplasia · Holt-Oram syndrome · Cleidocranial dysostosis · Li-Fraumeni syndrome · Hyperimmunoglobulin E syndrome · Ulnar–mammary syndrome · MODY 5
Other transcription factors none
Transcription coregulators Rubinstein-Taybi syndrome
see also
Genetic disorder: Membrane transport protein disorders
ABC-transporter ABCA1 (Tangier disease) · ABCA4 (Stargardt disease 1) · ABCC2 (Dubin-Johnson syndrome)
Solute carrier
1-10 SLC1A3 (Episodic ataxia 6) · SLC2A5 (Fructose malabsorption) · SLC3A1 (Cystinuria) · SLC4A1 (Hereditary spherocytosis) · SLC5A1 (Glucose-galactose malabsorption) · SLC5A2 (Renal glycosuria) · SLC5A5 (Thyroid dyshormonogenesis type 1) · SLC6A19 (Hartnup disease) · SLC7A7 (Lysinuric protein intolerance) · SLC7A9 (Cystinuria)
11-20 SLC11A1 (Crohn's disease) · SLC12A3 (Gitelman syndrome) · SLC17A5 (Salla disease)
21-40 SLC26A4 (Pendred syndrome) · SLC40A1 (African iron overload)
see also
Genetic disorder: Receptor deficiencies
Growth factor receptor
FGFR1 Pfeiffer syndrome · KAL2 Kallmann syndrome
FGFR2 Apert syndrome · Antley-Bixler syndrome · Pfeiffer syndrome · Crouzon syndrome · Jackson-Weiss syndrome
FGFR3 Achondroplasia · Hypochondroplasia · Thanatophoric dysplasia
TGF beta receptors Endoglin (Hereditary hemorrhagic telangiectasia) · TGFBR1/TGFBR2 (Loeys-Dietz syndrome)
Hormone receptor
Thyroid hormone receptor Thyroid hormone resistance
Thyrotropin receptor CHNG1 congenital hypothyroidism
Parathyroid hormone receptor Jansen's metaphyseal chondrodysplasia · Pseudohypoparathyroidism
Androgen receptor Androgen insensitivity syndrome · Kennedy disease
Estrogen receptor Estrogen insensitivity syndrome
Growth hormone receptor Laron syndrome
Mineralocorticoid receptor PHA1AD pseudohypoaldosteronism
Anti-Müllerian hormone receptor Persistent Mullerian duct syndrome II · Familial hypocalciuric hypercalcemia
LH receptor Male-limited precocious puberty
FSH receptor XX gonadal dysgenesis
Other Robinow syndrome
Genetic disorder: Scleroprotein disease
Extracellular matrix
Collagen disease
Genetic

COL1: Osteogenesis imperfecta · Ehlers-Danlos syndrome, types 1,2,&7

COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita (see also C2/11)

COL3: Ehlers-Danlos syndrome, types 3&4 (Sack-Barabas syndrome)

COL4: Alport syndrome

COL5: Ehlers-Danlos syndrome, types 1&2

COL6: Bethlem myopathy · Ullrich congenital muscular dystrophy

COL7: Epidermolysis bullosa dystrophica

COL8: Fuchs' dystrophy

COL9: Multiple epiphyseal dysplasia

COL10: Schmid metaphyseal chondrodysplasia

COL11: Weissenbacher-Zweymüller syndrome · Otospondylomegaepiphyseal dysplasia (see also C2/11)

COL17: Bullous pemphigoid
Autoimmune Goodpasture's syndrome
Laminopathy Barraquer-Simons syndrome · Buschke-Ollendorff syndrome/Osteopoikilosis · Pelger-Huet anomaly · Junctional epidermolysis bullosa
Keratinopathy/ (keratosis, keratoderma, hyperkeratosis) Steatocystoma multiplex · Epidermolytic hyperkeratosis · Epidermolysis bullosa simplex · Ichthyosis bullosa of Siemens · Meesmann juvenile epithelial corneal dystrophy
see also

: MUS, DF+DRCT

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: INT, SF, LCT

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Genetic disorder: Channelopathy
Calcium channel

Voltage-gated: Hypokalemic periodic paralysis · Timothy syndrome · Brugada syndrome 3&4 · Familial hemiplegic migraine 1 · Episodic ataxia 2

Ligand gated: Malignant hyperthermia · Central core disease
Sodium channel

Voltage-gated: Erythromelalgia · Hypokalemic periodic paralysis · Hyperkalemic periodic paralysis · Bartter syndrome 3&4 · Brugada syndrome 1&6 · Familial hemiplegic migraine 3 · Generalized epilepsy with febrile seizures plus · Paramyotonia congenita · Febrile seizure 3

Constitutively active: Liddle's syndrome
Potassium channel

Voltage-gated: Jervell and Lange-Nielsen syndrome · Romano-Ward syndrome · Brugada syndrome 5 · Episodic ataxia 1 · Short QT syndrome · Neuromyotonia/Isaacs syndrome

Inward-rectifier: Andersen-Tawil syndrome · Bartter syndrome 2
Chloride channel Cystic fibrosis · Thomsen disease · Myotonia congenita
TRP channel Mucolipidosis type IV · FSGS2
see also
Genetic disorder: Other, by mechanism
Signal transduction CADASIL · Alagille syndrome
Ciliopathy Alström syndrome · Bardet–Biedl syndrome · Joubert syndrome · Primary ciliary dyskinesia · Senior-Løken syndrome

Categories: Genetics | Genetic disorders | Medical genetics

 

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What was the first genetic disorder identified?
Q. What was the first genetic disorder identified? Year and name of genetic disorder?
Asked by Kungfuman23 - Sat Jan 2 16:27:55 2010 - - 5 Answers - 0 Comments

A. Mmmm. I'm going to differ from previous answers. In 1906 Sir Archibald Garrod delivered his treatise, Inborn Errors of Metabolism, to the Royal Society of Physicians as part of the Croonian Lectures. The first disorder he discovered (1902 and earlier) was alcaptonuria. He later expanded his work to include cystinuria, albinism, and pentosuria. He proposed the "one gene, one enzyme hypothesis." Prior to that certain diseases like hemophilia were known to be hereditary, but mendelian inheritance had yet to be re-discovered.
Answered by greydoc6 - Sat Jan 2 22:18:41 2010

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