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98 relations: Abortion, Achondroplasia, Acute intermittent porphyria, Aicardi syndrome, Albinism, Alternative medicine, Amniocentesis, Asthma, Autoimmune disease, Autonomy, Autosome, Blood pressure, Cancer, Cardiovascular disease, Ciliopathy, Cleft lip and cleft palate, Color blindness, Cystic fibrosis, Diabetes mellitus, DNA, Dominance (genetics), Down syndrome, Duchenne muscular dystrophy, Earwax, Familial hypercholesterolemia, Family history (medicine), FINDbase, Galactosemia, Genetic disorder, Genetic epidemiology, Genomic imprinting, Genotype, Genotype-first approach, Germline, Glycogen storage disease, Haemophilia, Haemophilia A, Hereditary multiple exostoses, Hereditary nonpolyposis colorectal cancer, Hereditary spherocytosis, Heredity, Heterozygote advantage, Homogeneity and heterogeneity, Huntington's disease, Hypertension, Inborn errors of metabolism, Incontinentia pigmenti, Infertility, Inflammatory bowel disease, Intellectual disability, ..., Klinefelter syndrome, Leber's hereditary optic neuropathy, Lesch–Nyhan syndrome, List of genetic disorders, Lysosomal acid lipase deficiency, Malaria, Marfan syndrome, Medical genetics, Medical ultrasound, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Mendelian error, Mendelian inheritance, Minimally invasive procedures, Mitochondrial DNA, Mood disorder, Mucopolysaccharidosis, Multiple sclerosis, Muscular dystrophy, Mutation, Neurofibromatosis type I, Neurofibromatosis type II, Niemann–Pick disease, Obesity, Pain management, Pattern hair loss, Penetrance, Phenotype, Phenylketonuria, Physical therapy, Polycystic kidney disease, Prenatal testing, Quality of life (healthcare), Race and health, Refractive error, Rett syndrome, Roberts syndrome, Sex linkage, Sickle cell disease, Skewed X-inactivation, Spinal muscular atrophy, Stillbirth, Tay–Sachs disease, Tuberous sclerosis, Turner syndrome, Uniparental disomy, Von Willebrand disease, X chromosome, X-linked hypophosphatemia. Expand index (48 more) »
Abortion
Abortion is the ending of pregnancy by removing an embryo or fetus before it can survive outside the uterus.
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Achondroplasia
Achondroplasia is a genetic disorder that results in dwarfism.
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Acute intermittent porphyria
Acute intermittent porphyria (AIP) is a genetic metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin.
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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.
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Albinism
Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes.
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Alternative medicine
Alternative medicine, fringe medicine, pseudomedicine or simply questionable medicine is the use and promotion of practices which are unproven, disproven, impossible to prove, or excessively harmful in relation to their effect — in the attempt to achieve the healing effects of medicine.--> --> --> They differ from experimental medicine in that the latter employs responsible investigation, and accepts results that show it to be ineffective. The scientific consensus is that alternative therapies either do not, or cannot, work. In some cases laws of nature are violated by their basic claims; in some the treatment is so much worse that its use is unethical. Alternative practices, products, and therapies range from only ineffective to having known harmful and toxic effects.--> Alternative therapies may be credited for perceived improvement through placebo effects, decreased use or effect of medical treatment (and therefore either decreased side effects; or nocebo effects towards standard treatment),--> or the natural course of the condition or disease. Alternative treatment is not the same as experimental treatment or traditional medicine, although both can be misused in ways that are alternative. Alternative or complementary medicine is dangerous because it may discourage people from getting the best possible treatment, and may lead to a false understanding of the body and of science.-->---> Alternative medicine is used by a significant number of people, though its popularity is often overstated.--> Large amounts of funding go to testing alternative medicine, with more than US$2.5 billion spent by the United States government alone.--> Almost none show any effect beyond that of false treatment,--> and most studies showing any effect have been statistical flukes. Alternative medicine is a highly profitable industry, with a strong lobby. This fact is often overlooked by media or intentionally kept hidden, with alternative practice being portrayed positively when compared to "big pharma". --> The lobby has successfully pushed for alternative therapies to be subject to far less regulation than conventional medicine.--> Alternative therapies may even be allowed to promote use when there is demonstrably no effect, only a tradition of use. Regulation and licensing of alternative medicine and health care providers varies between and within countries. Despite laws making it illegal to market or promote alternative therapies for use in cancer treatment, many practitioners promote them.--> Alternative medicine is criticized for taking advantage of the weakest members of society.--! Terminology has shifted over time, reflecting the preferred branding of practitioners.. Science Based Medicine--> For example, the United States National Institutes of Health department studying alternative medicine, currently named National Center for Complementary and Integrative Health, was established as the Office of Alternative Medicine and was renamed the National Center for Complementary and Alternative Medicine before obtaining its current name. Therapies are often framed as "natural" or "holistic", in apparent opposition to conventional medicine which is "artificial" and "narrow in scope", statements which are intentionally misleading. --> When used together with functional medical treatment, alternative therapies do not "complement" (improve the effect of, or mitigate the side effects of) treatment.--> Significant drug interactions caused by alternative therapies may instead negatively impact functional treatment, making it less effective, notably in cancer.--> Alternative diagnoses and treatments are not part of medicine, or of science-based curricula in medical schools, nor are they used in any practice based on scientific knowledge or experience.--> Alternative therapies are often based on religious belief, tradition, superstition, belief in supernatural energies, pseudoscience, errors in reasoning, propaganda, fraud, or lies.--> Alternative medicine is based on misleading statements, quackery, pseudoscience, antiscience, fraud, and poor scientific methodology. Promoting alternative medicine has been called dangerous and unethical.--> Testing alternative medicine that has no scientific basis has been called a waste of scarce research resources.--> Critics state that "there is really no such thing as alternative medicine, just medicine that works and medicine that doesn't",--> that the very idea of "alternative" treatments is paradoxical, as any treatment proven to work is by definition "medicine".-->.
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Amniocentesis
Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, and also for sex determination, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus, and then the fetal DNA is examined for genetic abnormalities.
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Asthma
Asthma is a common long-term inflammatory disease of the airways of the lungs.
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Autoimmune disease
An autoimmune disease is a condition arising from an abnormal immune response to a normal body part.
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Autonomy
In development or moral, political, and bioethical philosophy, autonomy is the capacity to make an informed, un-coerced decision.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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Blood pressure
Blood pressure (BP) is the pressure of circulating blood on the walls of blood vessels.
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Cancer
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.
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Cardiovascular disease
Cardiovascular disease (CVD) is a class of diseases that involve the heart or blood vessels.
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Ciliopathy
A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
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Cleft lip and cleft palate
Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft lip (CL), cleft palate (CP), and both together (CLP).
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Color blindness
Color blindness, also known as color vision deficiency, is the decreased ability to see color or differences in color.
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Cystic fibrosis
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.
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Diabetes mellitus
Diabetes mellitus (DM), commonly referred to as diabetes, is a group of metabolic disorders in which there are high blood sugar levels over a prolonged period.
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DNA
Deoxyribonucleic acid (DNA) is a thread-like chain of nucleotides carrying the genetic instructions used in the growth, development, functioning and reproduction of all known living organisms and many viruses.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Down syndrome
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
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Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy.
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Earwax
Earwax, also known by the medical term cerumen, is a gray, orange, or yellowish waxy substance secreted in the ear canal of humans and other mammals.
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Familial hypercholesterolemia
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease.
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Family history (medicine)
In medicine, a family history (FH or FHx) consists of information about disorders from which the direct blood relatives of the patient have suffered.
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FINDbase
The Frequency of INherited Disorders database (FINDbase) is a database of frequencies of causative genetic variations worldwide.
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Galactosemia
Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly.
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Genetic disorder
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
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Genetic epidemiology
Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors.
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Genomic imprinting
Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed in a parent-of-origin-specific manner.
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Genotype
The genotype is the part of the genetic makeup of a cell, and therefore of an organism or individual, which determines one of its characteristics (phenotype).
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Genotype-first approach
The genotype-first approach is a type of strategy used in genetic epidemiological studies to associate specific genotypes to apparent clinical phenotypes of a complex disease or trait.
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Germline
In biology and genetics, the germline in a multicellular organism is the population of its bodily cells that are so differentiated or segregated that in the usual processes of reproduction they may pass on their genetic material to the progeny.
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Glycogen storage disease
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis (glucose breakdown), typically within muscles and/or liver cells.
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Haemophilia
Haemophilia, also spelled hemophilia, is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.
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Haemophilia A
Haemophilia A (or hemophilia A) is a genetic deficiency in clotting factor VIII, which causes increased bleeding and usually affects males.
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Hereditary multiple exostoses
Hereditary multiple osteochondromas (HMO) also known as Hereditary multiple exostoses is a disorder characterized by the development of multiple benign osteocartilaginous masses (exostoses) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones.
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Hereditary nonpolyposis colorectal cancer
Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic condition that has a high risk of colon cancer as well as other cancers including endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin.
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Hereditary spherocytosis
Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is an abnormality of red blood cells, or erythrocytes.
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Heredity
Heredity is the passing on of traits from parents to their offspring, either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.
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Heterozygote advantage
A heterozygote advantage describes the case in which the heterozygous genotype has a higher relative fitness than either the homozygous dominant or homozygous recessive genotype.
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Homogeneity and heterogeneity
Homogeneity and heterogeneity are concepts often used in the sciences and statistics relating to the uniformity in a substance or organism.
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Huntington's disease
Huntington's disease (HD), also known as Huntington's chorea, is an inherited disorder that results in death of brain cells.
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Hypertension
Hypertension (HTN or HT), also known as high blood pressure (HBP), is a long-term medical condition in which the blood pressure in the arteries is persistently elevated.
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Inborn errors of metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.
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Incontinentia pigmenti
Incontinentia pigmenti (IP) is a rare genetic disorder that affects the skin, hair, teeth, nails, and central nervous system.
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Infertility
Infertility is the inability of a person, animal or plant to reproduce by natural means.
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Inflammatory bowel disease
Inflammatory bowel disease (IBD) is a group of inflammatory conditions of the colon and small intestine.
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Intellectual disability
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
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Klinefelter syndrome
Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males.
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Leber's hereditary optic neuropathy
Leber's hereditary optic neuropathy (LHON) or Leber hereditary optic atrophy is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; this affects predominantly young adult males.
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Lesch–Nyhan syndrome
Lesch–Nyhan syndrome (LNS), also known as juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene located on the X chromosome.
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List of genetic disorders
The following is a list of genetic disorders and if known, type of mutation and the chromosome involved.
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Lysosomal acid lipase deficiency
Lysosomal acid lipase deficiency (LAL deficiency or LAL-D), also known as Wolman disease, is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme.
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Malaria
Malaria is a mosquito-borne infectious disease affecting humans and other animals caused by parasitic protozoans (a group of single-celled microorganisms) belonging to the Plasmodium type.
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Marfan syndrome
Marfan syndrome (MFS) is a genetic disorder of the connective tissue.
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Medical genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.
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Medical ultrasound
Medical ultrasound (also known as diagnostic sonography or ultrasonography) is a diagnostic imaging technique based on the application of ultrasound.
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Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency, often known as MCAD deficiency or MCADD, is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA.
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Mendelian error
A Mendelian error in the genetic analysis of a species, describes an allele in an individual which could not have been received from either of its biological parents by Mendelian inheritance.
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Mendelian inheritance
Mendelian inheritance is a type of biological inheritance that follows the laws originally proposed by Gregor Mendel in 1865 and 1866 and re-discovered in 1900.
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Minimally invasive procedures
Minimally invasive procedures (also known as minimally invasive surgeries) encompass surgical techniques that limit the size of incisions needed and so lessen wound healing time, associated pain and risk of infection.
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Mitochondrial DNA
Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, adenosine triphosphate (ATP).
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Mood disorder
Mood disorder, also known as mood (affective) disorders, is a group of conditions where a disturbance in the person's mood is the main underlying feature.
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Mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans.
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Multiple sclerosis
Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged.
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Muscular dystrophy
Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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Neurofibromatosis type I
Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein called neurofibromin which is needed for normal function in many human cell types.
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Neurofibromatosis type II
Neurofibromatosis type II (also known as MISME syndrome - multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition which may be inherited or may arise spontaneously. The main manifestation of the condition is the development of symmetric, benign brain tumors in the region of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain. Many people with this condition also experience visual problems. NF II is caused by mutations of the "Merlin" gene, which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. Historically the underlying disorder has not had any therapy due to the cell function caused by the genetic mutation. However, new drug research and some clinical trials have shown some promise in having beneficial effects. Collaborative research to find better treatments is ongoing, such as the work of the Synodos NF-2 Consortium of scientists.
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Niemann–Pick disease
Niemann–Pick disease is a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells.
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Obesity
Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have a negative effect on health.
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Pain management
Pain management, pain medicine, pain control or algiatry, is a branch of medicine employing an interdisciplinary approach for easing the suffering and improving the quality of life of those living with chronic pain The typical pain management team includes medical practitioners, pharmacists, clinical psychologists, physiotherapists, occupational therapists, physician assistants, nurses.
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Pattern hair loss
Pattern hair loss, known as male-pattern hair loss (MPHL) when it affects males and female-pattern hair loss (FPHL) when it affects females, is hair loss that primarily affects the top and front of the scalp.
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Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype).
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Phenotype
A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).
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Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.
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Physical therapy
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions that, by using mechanical force and movements (bio-mechanics or kinesiology), manual therapy, exercise therapy, and electrotherapy, remediates impairments and promotes mobility and function.
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Polycystic kidney disease
Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney.
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Prenatal testing
Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.
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Quality of life (healthcare)
In general, quality of life (QoL or QOL) is the perceived quality of an individual's daily life, that is, an assessment of their well-being or lack thereof.
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Race and health
Race and health refers to the relationship between individual health and one's race and ethnicity.
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Refractive error
Refractive error, also known as refraction error, is a problem with focusing light accurately onto the retina due to the shape of the eye.
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Rett syndrome
Rett syndrome (RTT) is a genetic brain disorder which typically becomes apparent after 6 to 18 months of age in females.
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Roberts syndrome
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
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Sex linkage
Sex linkage is the phenotypic expression of an allele related to the allosome (sex chromosome) of the individual.
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Sickle cell disease
Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.
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Skewed X-inactivation
Skewed X chromosome inactivation occurs when the inactivation of one X chromosome is favored over the other, leading to an uneven number of cells with each chromosome inactivated.
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Spinal muscular atrophy
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting, often leading to early death.
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Stillbirth
Stillbirth is typically defined as fetal death at or after 20 to 28 weeks of pregnancy.
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Tay–Sachs disease
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.
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Tuberous sclerosis
Tuberous sclerosis, or tuberous sclerosis complex (TSC), or epiloia (acronym of "epilepsy, low intelligence, adenoma sebaceum"), is a rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs, and skin.
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Turner syndrome
Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome.
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Uniparental disomy
Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent.
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Von Willebrand disease
Von Willebrand disease (vWD) is the most common hereditary blood-clotting disorder in humans.
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X chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females.
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X-linked hypophosphatemia
X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked vitamin d-resistant rickets, is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of rickets in that ingestion of vitamin D is relatively ineffective.
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References
[1] https://en.wikipedia.org/wiki/Genetic_disorder
