Hereditary Diseases at a Glance

                           Hereditary Disease

 An innate/hereditary sickness is regularly portrayed as something that "runs in the family." It is passed down from one or the two guardians to, a then kid pass it to their kids. Inherited infection is because of transformations of the hereditary material of  cells. Such changes can happen at the level of a chromosome (chromosomal transformations), the (genome transformation), or a (quality transformations). Transformations change either the design or the measurements of one or a few qualities. Most, however not all, inherited sicknesses are independently uncommon (1), but rather taken together they include about 5% of the illness load in created nations.

           Genetic Disorders

          What are genetic disorders?

 Genetic disorders is a category of diseases that includes   certain types of birth defects, chronic diseases,   developmental problems, and sensory deficits that are inherited from one or both parents.

Birth defects	Chronic diseases	Developmental problems	Sensory Deficits
cataracts	bleeding disorders	autism spectrum disorders	extreme farsightedness
cleft lip or palate	childhood cancers	attention deficit/hyperactivity	extreme nearsightedness
congenital heart disease	kidney or urinary tract disease	developmental delay	hearing loss
contractures	slow growth or short stature	failure to thrive	retinal or other visual problems
diaphragmatic hernia	cystic fibrosis	learning disability
genital malformations	sickle cell disease	loss of developmental skills
glaucoma	thalassemia	low muscle tone
misshapen skull		mental illness
missing fingers or toes		mental retardation
missing or incomplete arms or legs		speech problems
spina bifida or open spine defects		seizures

 Similarities can be found in some of the symptoms that are not interested. Features can appear at birth (congenital heart disease or cleft lip or palate) or during the course of childhood (developmental delays or learning problems). Conclusion might be drawn from an actual test or designated hereditary testing

 

What are the physical signs of genetic disorders?

The following list includes features that might suggest that your child has a genetic disorder. In few cases, a portion of these attributes are normally found in individuals without any genetic problem. You'll need to check with your primary care physician if your child has something like two of the accompanying highlights::

 

 

ear abnormalities	misshapen teeth
unusually shaped eyes	missing or extra teeth
different colored eyes	loose or stiff joints
facial features that are unusual or different from other family members	unusually tall or short stature
brittle or sparse hair	webbed fingers or toes
excessive body hair	excessive skin
white patches of hair	unusual birthmarks
large or small tongue	increased or decreased sweating
	unusual body odor

 

    

     What Are the Types of Genetic Disease?

There are many types of genetic diseases. Four of the main types are:

• Single-gene inheritance diseases

• Multifactorial genetic inheritance disorders

• Chromosome abnormalities

• Mitochondrial genetic inheritance disorders

List of Examples of Common Single-Inheritance Genetic Diseases

Single gene inheritance diseases are diseases that occur because one defective gene . They are known as monogenetic disorders. There are thousands of known single gene inheritance diseases, and they may be inherited in different ways. Autosomal dominant inheritance means that only one copy of the defective gene (from either parent) must be present to cause the condition. Autosomal recessive diseases require that an affected person receive a defective copy of the gene from each parent. X-linked disorders refer to diseases for which the defective gene is present on the female (X) chromosome.

             Examples of single gene inheritance disorders include:

Cystic fibrosis	Huntington disease	Neurofibromatosis type 1	Kartagener syndrome
Sickle-cell anemia	Polycystic kidney disease types 1 and 2	Alpha-1 antitrypsin deficiency	Xeroderma pigmentosum
Marfan syndrome	Tay-Sachs disease Phenylketonuria	Galactosemia	Hereditary spherocytosis
Duchenne muscular dystrophy	Maple syrup urine disease	Familial hypercholesterolemia	Tuberous sclerosis
Hemophilia	Fanconi anemia	Rett syndrome	Von Hippel-Lindau syndrome

     

          

                   List of Examples of Multifactorial Genetic Inheritance Disorders

A genetic disease or disorder is any disease caused by a problem with a person’s genes. A person’s genes are contained within their genome. The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). These 46 chromosomes together contain over 3 billion base pairs of DNA that contain about 20,500 protein-coding genes. The actual protein-coding genes account for less than 5% of the human genome. The precise function of the 95% of remaining DNA is unclear. Some researchers include mitochondrial DNA as part of the human genome.

There are about 6000 known genetic disorders; many are fatal or cause severe problems while others may not but may add to problems that are triggered by non-genetic (for example, environmental conditions).

Genetic disorders can range from a defect in a single base mutation in the DNA of one gene to chromosomal abnormalities that involve deletion or addition of entire chromosomes or sets of chromosomes. Genetic disorders can be inherited, or passed from parents to offspring, or acquired due to changes in an individual’s DNA that occur during their lifetime. Radiation and certain cancer-causing chemicals are examples of causes of acquired changes to DNA. This short article is designed to give the reader a list of groups of diseases that share genetic problems that are similar in cause. The lists have examples of genetic disease types and are not all inclusive.

List of Examples of Chromosome Abnormalities Genetic Diseases

Chromosome abnormalities usually result from a problem with cell division and arise because of duplications or absences of entire chromosomes or pieces of chromosomes. Examples of chromosome abnormality disorders include:

Down syndrome

Cri-du-chat syndrome

Klinefelter syndrome

Patau syndrome (trisomy 13)

Edwards syndrome (trisomy 18)

Turner syndrome

22q11.2 deletion syndrome

Ring chromosome 14 syndrome

Prader-Willi syndrome

List of Examples of Mitochondrial Genetic Inheritance Disorders

Mitochondrial genetic inheritance disorders are caused by mutations in the DNA of mitochondria, small particles within cells. This DNA is unique in that it is not located on the chromosomes in the cell nucleus. Mitochondrial DNA is always inherited from the female parent since egg cells (unlike sperm cells) keep their mitochondrial DNA during the process of fertilization. Examples of mitochondrial genetic inheritance disorders include:

Hereditary optic atrophy

Barth syndrome

Co-enzyme Q10 deficiency

Myoclonic epilepsy with ragged red fibers (MERRF)

MELAS syndrome, a rare form of dementia

Kearns-Sayre syndrome

Pearson syndrome

Neuropathy, ataxia, retinitis pigmentosa (NARP)

Leigh’s disease