The diseases Génétique S are Maladie S due to one or more anomalies on one or more Chromosome S which are transmitted to the descent and which involve a malfunction of precise cells of the organisme.
The biological cells manufacture proteins of which the structure is determined by the genetic Code. If the Gène is deteriorated, it involves the cell in a dysfunction, which can appear, at any age of the life, with the expression of a maladie.
One uses this term in human Génétique and in all the structures biologiques.
The genetic diseases are known as dominant or recessive, if the responsible Allèle is or not dominating (at an individual each gene is represented by two alleles).
One can also classify them according to the position of gene responsible for the anomaly. If it is located on the pair of sexual chromosomes, the disease is known as gonosomale, if it is localized on a pair of homologous chromosomes, the disease is known as autosomale.
One thus speaks about recessive disease Autosomal E (ex: Phénylcétonurie) or of recessive disease gonosomale (ex: Hemophilia).
Among the genetic diseases as well, one finds affections benign or slightly handicapping (for example, the Daltonisme) that extremely serious affections. But their common characteristic is generally to be an affection with life and that it can in certain cases being transmitted to the descent, since registered in the Gène S of the individu.
The genetic diseases are to be differentiated from the chromosomal diseases, which are due to a morphological anomaly of the chromosome, which was not transmitted by the ascending ones, from which the causes can beings varied: irradiation, poisons…, at the time of the cellular Division of the Original cells or the first cells of the life (Mitosis, Meiosis).
Multifactorielles hereditary diseases
Monofactorielles hereditary genetic diseases
When genetic anomalies are result of a simple gene change, they can be transmitted to the following generations by one of these ways, though the genomic Imprégnation and the Disomie uniparentale can influence the diagrams of transmission.
The treatment of these diseases was a long time the poor relation of the remainder of medicine because of the difficulties of analysis, diagnosis (in certain cases) and of few solutions to be offered to the patients (for many pathologies).
For a long time, medicine did not have means of analysis and diagnosis apart from the outside observable Symptôme S (though sometimes very visible). The XXe century brought the relatively accessible capacity to analyze these diseases on their causes by the practical knowledge of the genome.
The progressive gene identification implied in the release or the transmission of the hereditary diseases made it possible to medicine to provide an early diagnosis and reliable (possibly before the birth of a child or before with the establishment at the time of a In vitro fertilization, for example). This capacity of diagnosis deeply transformed the manner of planning to give the life for couples likely to transmit an affection to hereditary feature.
So of many hereditary diseases have a suitable treatment of the Symptôme S, it is not the case of all. In the general case, the presence of the causes in the genome complicates the task of the expert singularly.
The genic therapies plan to carry out a modification of genetic inheritance in the living being (by the use of a Virus modified or any other approach). They bring a hope of solution and forecast favorable to certain patients. However, except particular case, they are yet today only with the state of outline or research.
The list of the known genetic diseases increases each week thanks to progress of medicine and research.
By body, apparatus or function
the constitutional diseases of the bone are gathered according to the international classification of the constitutional diseases of the bone of 2001 revised in 2003
- the congenital metabolic diseases
- the hereditary neuro-muscular diseases
List simplified few diseases by chromosomal localizationList nonrestrictive. It should be known however that a disease is characterized sometimes by genetic anomalies located on several different chromosomes, and that for a given pathology, the localizations all are not implied. (Example: Disease of Alzheimer implied chromosomes: 1,4,7,10,12,14 17,19,20 and 21)
- Original cell (medicine)
- congenital metabolic Disease
- List of the genetic diseases with gene identified
- List of the genetic diseases with gene not identified
- Syndrome with behavioral phenotype
- Previous family
- Human Genom Resources NCBI
- complete Chart established to date human genome
Simple: Hereditary disease
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