Genetic anomaly
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital). Most genetic disorders are quite rare and af...
Genetic anomaly - Wikipedia
Autosomal dominant
Dominance in genetics is a relationship between alleles of one gene, in which one allele is expressed over a second allele at the same locus. The first allele is dominant and the second allele is rece...
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 l...
X-linked dominant - Wikipedia
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 (1) in males (who are necessarily homozygous for the gen...
Y linkage
In mammals, Y-linkage, also known as holandric inheritance, is the determination of a phenotypic trait by an allele (or gene) on the Y chromosome.Because the Y-chromosome is small and does not contain...
Mitochondrial disease
Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body except red ...
Mitochondrial disease - Wikipedia
Huntington's disease clinical research
Huntington's disease is a genetic neurological disorder characterized after onset by uncoordinated, jerky body movements and a decline in some mental abilities for which there is no present cure or ef...
Huntington's disease clinical research - Wikipedia
Mitochondrial toxicity
Mitochondrial toxicity is a condition in which the mitochondria of a body's cells become damaged or decline significantly in number; it occurs as a side effect of certain antiretroviral drugs used to ...
Leigh's disease
Leigh disease, also known as juvenile subacute necrotizing encephalomyelopathy, Leigh syndrome, infantile subacute necrotizing encephalomyelopathy, and subacute necrotizing encephalomyelopathy (SNEM),...
Coenzyme Q10 deficiency
Coenzyme Q10 deficiency is a deficiency of Coenzyme Q10.It can be associated with COQ2, APTX, PDSS2, PDSS1, CABC1, and COQ9.Some forms may be more treatable than other mitochondrial diseases.
MELAS syndrome
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes – abbreviated to MELAS – is one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's hereditary ...
MELAS syndrome - Wikipedia
MERRF syndrome
MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease. It is extremely rare, with an estimated prevalence of 1/400,000 in Northern Europe, and has varying degrees of...
Wolfram syndrome
Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is a rare genetic disorder, causing diabetes mellitus, optic atrophy, and deafness as well a...
Wolfram syndrome - Wikipedia
Neuropathy, ataxia, and retinitis pigmentosa
Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with mitochondrial inheritance that causes a variety of signs and symptoms chiefly affecting the nervous sy...
Stem cell therapy
Stem cell therapy is the use of stem cells to treat or prevent a disease or condition. Bone marrow transplant is the most widely used stem cell therapy, but some therapies derived from umbilical cord ...
Kearns-Sayre syndrome
Kearns–Sayre syndrome (abbreviated KSS) also known as oculocraniosomatic disorder or Oculocraniosomatic neuromuscular disorder with ragged red fibers is a mitochondrial myopathy with a typical onset b...
Leber's hereditary optic neuropathy
Leber’s hereditary optic neuropathy (LHON) or Leber optic atrophy is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons th...
May-White syndrome
May–White syndrome is a rare familial progressive myoclonus epilepsy with lipomas, deafness, and ataxia. This syndrome is probably a familial form of mitochondrial encephalomyopathy.
Epistasis
Epistasis is a phenomenon that consists of the effect of one gene being dependent on the presence of one or more 'modifier genes' (genetic background). Similarly, epistatic mutations have different ef...
Spindle transfer
A spindle transfer (more properly "spindle-chromosomal complex transfer") is a genetic manipulation technique where the donor's nuclear DNA but not her mitochondrial DNA is transferred to the receivin...
Mitochondrial myopathy
Mitochondrial myopathy is a type of myopathy associated with mitochondrial disease. On biopsy, the muscle tissue of patients with this disease usually demonstrate "ragged red" muscle fibers. These r...
X-Linked mental retardation
X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of intellectual disability which are specifically associated with X-linked recessive inheritance.As w...
Mitochondrial neurogastrointestinal encephalopathy syndrome
Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), also called myoneurogastrointestinal encephalopathy syndrome or POLIP syndrome, is a rare autosomal recessive mitochondrial disease...
Diabetes mellitus and deafness
Diabetes mellitus and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) is a subtype of diabetes which is caused from a point mutation at position 3243 in human mitochondrial DNA, wh...
Diabetes mellitus and deafness - Wikipedia
Pearson syndrome
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dep...
Codominance
Dominance in genetics is a relationship between alleles of one gene, in which one allele is expressed over a second allele at the same locus. The first allele is dominant and the second allele is rece...
Codominance - Wikipedia
Threshold expression
Threshold expression is a phenomenon in which phenotypic expression of a mitochondrial disease within an organ system occurs when the severity of the mutation, relative number of mutant mtDNA, and rel...
Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia (PEO), is a type of eye disorder characterized by slowly progressive inability to move the eyes ...
Nonsyndromic deafness
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the b...
Friedreich's ataxia
Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it...
Friedreich's ataxia - Wikipedia