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Doctor insights on: What Genetic Disorder Does Andy Milonakis Have

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Genetic disorder hht?

Genetic disorder hht?

HHT is genetic: Hht also known as hereditary hemorrhagic telangiectasia is a genetic condition that causes differences in how blood vessels are formed causing so-called arteriovenous malformations (avms) which on skin are called teleangiectasias, thus name of condition. Currently three genes are known to cause it. Nih site has good info:
http://ghr. Nlm. Nih. Gov/condition/hereditary-hemorrhagic-telangiectasia. ...Read more

Dr. Richard Roberts
229 Doctors shared insights

Genetic Disease (Definition)

A genetic disease is a disease that is caused by a defect in the genetic (dna) material in a gene (s). It can be inherited and mosy pose a risk to other family members and/or to future children. For many genetic diseases there are molecular tests that allow detection of a change (s) called mutations, we can also detect deltions or other changes to the gene's dna that can also result ...Read more


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Is CP a genetic disorder?

Is CP a genetic disorder?

CP: No, cerebral palsy is not considered to be a genetic disorder. CP consists of a multifactorial group of nonprogressive clinical syndromes that cause motor and postural problems. The main conditions associated with increasing the chance of having CP are intrapartum hypoxia, prematurity, intrauterine growth restriction, intrauterine infection and antepartum hemorrhage. ...Read more

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What is a genetic disorder?

What is a genetic disorder?

Chromosomes abn.: A genetic disorder is an abnormality in the genetic makeup of an individual, abn expression of chromosomes, (your internal blueprint). This may have been inherited from parents, or a result of a spontaneous change in genes.
Epogenetics is the expression of your genes and can be influenced by environment and nutrition. So it doesn't always have to "run in the family". ...Read more

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Is bipolarity a genetic disorder?

Is bipolarity a genetic disorder?

Yes: Bipolarity is very strongly related to genetic inheritance. How it affects your life (the balance of good and bad effects of mood variation) may depend on your growing up experiences. But whether or not you have bipolar mood variation is almost all due to genes. ...Read more

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Which type of genetic disorder is this?

Please clarify.: What kind of genetic disorder is what? Please clarify & re-ask this question. ...Read more

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Is turners syndrome a genetic disorder?

Is turners syndrome a genetic disorder?

Yes: Most females are born with 2 x chromosomes. Ts is a disorder resulting from missing one x chromosome or some part of it in the cells of the body. It is a disorder exclusive to females. Those with ts are born with it. Manifestations vary depending on the genetics. Small stature is one feature most girls have in common with each other. ...Read more

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How can a genetic disorder be started?

Abnormal genes: A genetic disorder is caused by one more abnormalities within a genome. These abnormal genes can be inherited from your parents or can be a sporadic change. There are many genetic disorders that are caused by one abnormal gene, but there are also many other disorders that have both genetic and environmental components. Some of these disorders are present at birth and others manifest later in life. ...Read more

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Is sanflippo syndrome a genetic disorder?

Yes it is: Sanfilippo syndrome (mucopolysaccharidosis type iii) is a genetic condition. It is inherited in an autosomal recessive way. It means that both copies of the gene of a patient have a mutation (we have 2 copies of each gene, one from each parent). Parents of a patient each carry one copy of the mutated gene, and another healthy copy so they typically do not show signs and symptoms of the condition. ...Read more

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What is the genetic disorder 22q deletion?

What is the genetic disorder 22q deletion?

22q11 deletion: 22q deletion could be any deletion on chromosome #22, in the q arm of chromosome. Each chromosome has a short (p) and a long (q) arm. On both arms many areas that can be deleted. The most common is the 22q11 deletion syndrome which is variable ranging from perhaps mild learning difference to congenital heart defect, immunodeficiency, or hypocalcemia (low blood calcium). Many genes are involved. ...Read more

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Help please! Is diabetic a genetic disease?

Help please! Is diabetic a genetic disease?

Depends on type: Type 1 diabetes is an autoimmune disease with antibodies that attack part of the pancreas. Although there may be a slight genetic component, this is generally thought to be sporadic-that is, people just get it regardless of family.

Type 2 does seem to be related to genetics. It is not a disease where if you have the gene you have the disease; rather, there appear to be risk factor genes. ...Read more

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Han viruses be used to cure genetic disease?

Han viruses be used to cure genetic disease?

Engineering: Viruses can be modified so as not to cause disease. Genes can be inserted in the viruses and the modified virus used as a cargo ship to deliver a specific gene to a cell to cure genetic diseases. This is the principle of gene therapy. ...Read more

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Help docs, is hanhart syndrome a genetic disease?

Hanhart syndrome: Hanhart syndrome is a rare birth defect which is believed to be sporadic. Currently, there is no known associated gene. ...Read more

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What level of genetic disorder is colorblindness?

Red green: Typically red-green color blindness is an x-linked single gene disorder affecting ~8% of the male population. ...Read more

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Does anyone know if anencephaly is a genetic disease?

Does anyone know if anencephaly is a genetic disease?

Not genetic: We don't know why anencephaly happens, but it is not genetic. It may be in part due to a mother not having enough Folic Acid in her diet. ...Read more

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What is the most common genetic disorder in the U.S.?

What is the most common genetic disorder in the U.S.?

Too complex to answer: There are Mendelian disorders: X-linked recessive, X-linked dominant, autosomal dominant, and autosomal recessive. There are genetic disorders caused by abnormal amounts of chromosomal material: trisomies, deletions, and duplications. The largest group are disorders in which there is clearly a genetic component, but non-genetic factors are also important. No easy answer. ...Read more

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Can you tell me about the most common genetic disorder?

Can you tell me about the most common genetic disorder?

Thalassemias: Alpha and beta thalassemias are estimated to be the most common genetic conditions. Who has a nice article and list of common genetic conditions in the world, here link for your convenience: http://www. Who. Int/genomics/public/geneticdiseases/en/index2.Html. ...Read more

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How could viruses be used to cure some genetic disease?

How could viruses be used to cure some genetic disease?

Engineering: Viruses can be modified so as not to cause disease. Genes can be inserted in the viruses and the modified virus used as a cargo ship to deliver a specific gene to a cell to cure genetic diseases. This is the principle of gene therapy. ...Read more

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Is life different for a person with a genetic disorder?

Is life different for a person with a genetic disorder?

Life: Life can be different from a medical perspective when coping with the consequences of a genetic disorder. This affects all the patients loved ones too.

However it is important to remember that a genetic disorder is no ones 'fault' and life can be as fulfilling for the affected individual as for anyone else. ...Read more

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What was the first genetic disorder that was identified?

Sickle cell: We knew about inheritance, but the actual biology of the gene was first worked out for sickle cell by Linus Pauling. ...Read more

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What kind of genetic disease is Down syndrome considered?

What kind of genetic disease is Down syndrome considered?

Chromosomal abnormal: Down syndrom is considered a chromosomal abnormality due to the presence of three number 21 chromosomes instead of the normal 2. ...Read more

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Is sarcoidosis a genetic disease? Will my children get it?

Is sarcoidosis a genetic disease? Will my children get it?

Family sarcoid: It is not likely that you would give your children sarcoid, however your inherited immune system may make it more likely.
The statistics show about a 16%increase of sarcoid in family. Sarcoid has an unknown cause. Some ideas have been, bacteria in the environment-but scientists have not isolated it; or chemicals in the environment-more common on rural areas, fields/ farmers, health care, & teachers. ...Read more

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What is a genetic disease that affects the nervous system?

Several: Multiple childhood problems such as leukodystrophies, adult Huntington's chorea, but also migraine, some epilepsies, etc, and genetic susceptibilities to certain neurological acquired conditions. ...Read more

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Can lymphangioleiomyomatosis be a type of genetic disease?

YES: It is a genetic disorder assosciated with multiple pneumothorax and obstructive lung disease. ...Read more

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Could you tell me what is the most common genetic disorder?

Could you tell me what is the most common genetic disorder?

Thalassemias: Alpha and beta thalassemias are estimated to be the most common genetic conditions. Who has a nice article and list of common genetic conditions in the world, here link for your convenience: http://www. Who. Int/genomics/public/geneticdiseases/en/index2.Html. ...Read more

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Which genetic disorder causes fatty material to accumulate?

Which genetic disorder causes fatty material to accumulate?

The lipidoses: This is a bunch of recessives, mostly autosomal. En.wikipedia. Org/wiki/Lipid_storage_disorder ...Read more

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In your opinion, what is the worst genetic disease for a fetus?

Down syndrome.: For many reasons (longevity, inability to care for self, chronic health problems, neurodevelopmental delay and dementia) this is a particularly hard genetic condition for families to bear; don't misunderstand me, I personally think some of the affected individuals are charismatic and a blessing to their families, but typically they are a heavy burden (>90% 5-year divorce rate reported). ...Read more

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What is the difference between an inherited and a genetic disorder?

What is the difference between an inherited and a genetic disorder?

In the olden: Days, we observed patterns and took pedigrees from families, and learned that certain diseases seemed to cluster within famlial units. Today, we can unravel dna, and we have learned that certain diseases are due to losses a genes or chromsomes, others caused by gains. Not all familial/inherited are genetic, but all genetic will be familial and inherited. ...Read more

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How can you find out if you've inherited a serious genetic disorder?

Genetic testing.: Dna analysis can elucidate this pretty conclusively, provided you know which disorder you want to exclude. Http://www. Bcm. Edu/genetics/. ...Read more

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Please describe the name of the genetic disease where you can't sweat?

CIPA or HSAN IV: There may be others, but congenital insensitivity to pain with anhidrosis is one such disease. It is inherited in an autosomal recessive form, meaning that an affected individual must get one gene from each parent.

http://en. Wikipedia. Org/wiki/congenital_insensitivity_to_pain_with_anhidrosis. ...Read more

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Could a child have a 12.5 percent chance of inheriting a genetic disorder?

Could a child have a 12.5 percent chance of inheriting a genetic disorder?

Risk is an estimate: Risk of inheritance is always a calculated estimate based on what is known about the family. If both parents for example are known to be carriers of a genetic condition their risk of having a child with this condition is 25%. But in reality it may happen in all children, or none, risk is just a calculated risk. Risk of 12.5% could be derived from possibility of parents being related to some degree. ...Read more

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Can you tell me it in an easy way, thanks! What is a recessive genetic disorder?

Two bad copies: You get a bad copy from Dad and a bad copy from Mom. Everybody has two copies. You need only one good copy to be healthy. But you don't have a good copy, and are sick. This is basic scientific literacy for the 21st century. Please be sure you understand. ...Read more

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What is the genetic disorder whose effects are not expressed until adulthood is:?

Many: There are many genetic disorders that don't become apparent until adulthood. Arguably more of these are dominant singel gene disorders. Please provide more details of the nature of the genetic condition. ...Read more

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If the cysts grow in different areas. Is there a genetic disease that would cause this?

NF?: There are a number of genetic conditions that cause 'cysts' to grow in different parts of the body.

One of the most common would be neurofibromatosis, nf-1. ...Read more

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What is a pathogenic disease with the exact same characteristics/symptons of a genetic disorder?

More info: Pathogenic is a medical worse for disease causing.

Genetic disorders cause disease processes that can be considered pathogenic.

More information is needed for me to help you. ...Read more

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Cysts that grow in different areas of your body. Is there a genetic disease that would cause this?

Cysts that grow in different areas of your body. Is there a genetic disease that would cause this?

Several: There are indeed a number of genetic conditions that produce cysts or lumps in different areas of the body. One of the most common would be a condition called neurofibromatosis. ...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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