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Doctor insights on: Genetics Disorders

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Is it true that hereditary disease and genetics disorder the same thing?

Is it true that hereditary disease and genetics disorder the same thing?

No: They can be the same but not always. A genetic disorder is a condition with symptoms due to abnormal gene functioning due to genetic alteration of some type like gene deletion or mutation. If this genetic alteration is inherited from either parent then it is a hereditary condition. If the genetic alteration occurs spontaneously then someone can have a genetic disorder without it being hereditary. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Does anyone know the genetics behind the bleeding disorder von willebrand's? Which parent(s) pass it to you?

Does anyone know the genetics behind the bleeding disorder von willebrand's? Which parent(s) pass it to you?

Correction: I agree with dr. Ball's answer, but the inheritance pattern he described is autosomal dominant. Autosomal means you can get it from either parent; dominant means only one parent needs to give it to you for you to get it. The rare, severe type 3 VWD is recessive; both parents need to pass on an abnormal gene for one to get it. ...Read more

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What is dysatonomia? My daughters cardiologist diagnose her with it. She is seeing genetics for a mitochondrial disorder. Should i be concern?

What is dysatonomia? My daughters cardiologist diagnose her with it. She is seeing genetics for a mitochondrial disorder. Should i be concern?

Autonomic dysfunctio: Dysautonomia is any disease or malfunction of autonomic system, which controls several functions in your body.Heart rate, blood pressure, peristalsis in gastrointestinal tract and swaeting and others.Malfunction can involve any of those functions. It may occur in other conditions like diabetes mellitus, guellen barre syndrome and some other conditions.Mitochondrial disorder can cause autonomic dysfunc. ...Read more

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Do genetics play a big role in krabbe disease?

Do genetics play a big role in krabbe disease?

Yes: Krabbe is a genetic inherited condition. It is inherited in an autosomal recessive fashion. That means that for a patient with krabbe, both parents are usually carriers of the abnormal gene called galc. Those parents will have a 25% chance of having another affected child and a 50% chance of having children that are carriers. ...Read more

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Is there a genetics connection von hippel-lindau disease?

Is there a genetics connection von hippel-lindau disease?

Von Hippel-Lindau: Von hippel-lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von hippel-lindau syndrome can occur throughout life. ...Read more

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I have a genetics question about von hippel-lindau disease?

I have a genetics question about von hippel-lindau disease?

Von Hippel-Lindau: Von hippel-lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von hippel-lindau syndrome can occur throughout life. ...Read more

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I have a genetics question about cause of von hippel-lindau disease?

I have a genetics question about cause of von hippel-lindau disease?

Von Hippel-Lindau: Von hippel-lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von hippel-lindau syndrome can occur throughout life. ...Read more

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Is genetics testing available for huntington's disease or is the diagnosis based on only on symptoms?

Yes: Pre-symptomatic testing is available through mutational analysis of the gene. It is not recommended in children until they can give meaningful informed consent. ...Read more

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I have genetic disorder my husband has great genetics can his genes over power my bad ones if we have kids?

I have genetic disorder my husband has  great genetics can his genes over power my bad ones if we have kids?

Not enough info: what genetic disorder were you diagnosed with and what studies were performed? It appears you did not receive comprehensible genetic counseling from a qualified counselor. Was your husband screened for carrier status?please supply this information and I will be able to provide you with an informed analysis of your genetics status. ...Read more

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What role does family genetics play in disease prevention?

What role does family genetics play in disease prevention?

Perspective: Immune system is inherited & important; however disease also depends upon the virulance or severity of the attack or insult upon that immune system together with outside environmental contributing factors. Disease occurs when any one of those factors is out of balance with the others. ...Read more

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Visual learning disorder, what could cause this? Genetics? Environmental factors?

Visual learning disorder, what could cause this? Genetics? Environmental factors?

Non-verbal learning: Disability is far less common than language-based ld's &is found in about 6% of students. Non-verbal learning disorders are brain-based, not eye-based. They may impact executive functions (reasoning, mental flexibility, problem-solving) as well as visual-perceptual &visual-motor tasks, whether isolated or as a manifestion of hydrocephalus, autistic spectrum disorder 1 &some genetic syndromes. ...Read more

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Can a female with Hb H disease marry someone with beta thalassemia trait? What are the possible results in terms of genetics percentages?

Can a female with Hb H disease marry someone with beta thalassemia trait? What are the possible results in terms of genetics percentages?

Sure: Anybody can marry anybody. Since HgbH disease involves the alpha genes and beta thal minor involves the beta genes, I would not be concerned. However, you might do well to be certain that neither partner carries the other person's trait as well masked by what's already diagnosed. Sit down with a competent clinical geneticist. ...Read more

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Help please! is cardiovascular disease genetics or lifestyle?

Both: Bad genetics and family history coupled with bad choices may be the worst. No smoking, do exercise, , weight and cholesterol and blood pressure control. ...Read more

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Which type of doctor Dx's mitochondrial disease? Genetics? Neuro? Is there such thing as a mito specialist? Clinic best known for mito?

Which type of doctor Dx's mitochondrial disease? Genetics? Neuro? Is there such thing as a mito specialist? Clinic best known for mito?

Pediatric geneticist: Mitochondrial diseases produce particular syndromes that would be hereditary through the maternal line. The severity of the symptoms varies even within affected individuals in the same family. Closely looking at metabolic breakdwon products in urine and a muscle biopsy would diagnose nearly all of the cases. ...Read more

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Genetic disease "t s", what does it stand for?

Genetic disease "t s", what does it stand for?

Tuberous Sclerosis: Tuberous sclerosis is often called ts or tsc. It is a hereditary disorder that is characterized by individuals devoloping a small benign lesion called a hamartoma in various organs including the brain, lung and kidneys. Ts fact sheet from nih at http://www.Ninds.Nih.Gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.Htm. ...Read more

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What is the least common genetic disease that is seen in the U.S.?

What is the least common genetic disease that is seen in the U.S.?

Unknown: Some are rarer than one in 100,000. Is continually finding new genetic disordersand we may have no clue with regard to how frequent they are. There are dozens of severe multiple malformation syndromes which are striking but none of the worlds geneticists have a clue with regard to what causes them.how do you estimate a single case in the world's medical literature? ...Read more

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Is tay-sach's disease associated with developing other genetic conditions?

Possibly: Because tay-sach's disease is one of several genetic diseases that can occur in people of ashkenazi jewish background, when screening is done for this disorder, usually several other disease states are screened for as well. This is a very complicated area to discuss and genetic counselling is best left to experts in this area. ...Read more