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Doctor insights on: Eds Inheritance

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How is autosomal recessive inheritance different?

How is autosomal recessive inheritance different?

Both parents: Autosomal recessive inheritance means that you have to inherit the gene from both parents. Some examples: cystic fibrosis, sickle cell disease. ...Read more

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Is marfan's syndrome a genetic mutation?

Is marfan's syndrome a genetic mutation?

Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read more

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Are all autosomal dominant diseases inherited?

Are all autosomal dominant diseases inherited?

Or new mutations: Mendel's laws. For example, many cases of achondroplasia, which an autosomal dominant disease, happen in children of unaffected parents as a result of a mutation in a sperm or egg. ...Read more

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Is hereditary angioedema type III a genetic mutation?

Is hereditary angioedema type III a genetic mutation?

The big unknown: This is a big unknown question, some people have a mutation that can cause type iii and others have an unkown kind that responds to treatments of hae. ...Read more

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How is osteogenesis imperfecta inheritanced?

How is osteogenesis imperfecta inheritanced?

Autosomal dominant: Osteogenesis impecta (OI) is transmitted in autosomal dominant fashion. Rare cases of OI, type II B &and type II C, are transmitted in autosomal recessive inheritance. ...Read more

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Celiac autosomal recessive?

Celiac autosomal recessive?

Possibly: There are several gene-markers which make a person more likely but not certainly to develop celiac disease. It is certainly not sex-linked. Perhaps there are still other genetic markers or mutations required for one to develop the full-blown disease. ...Read more

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Are personality traits inherited?

Are personality traits inherited?

For 30-60% of people: Multiple studies have shown that many personality traits are more inherited than acquired, showing a 30-60% range in the influence of inheritance. Most studies seem to show over 50% is based on genetics, and the rest on environment. That is not to say that family does not have substantial influence on personality development - studies say they can mitigate personalities but not change them. ...Read more

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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

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Can a pedigree trace autosomal recessive or autosomal dominant diseases?

Family tree: If you have enough information, a well filled out family tree can sometimes reveal patterns of inheritance. This includes autosomal recessive /dominant or x linked forms of inheritance. ...Read more

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Is the hypermobile type of ehlers danlos disorder constant in families?

Is the hypermobile type of ehlers danlos disorder constant in families?

Simple Response YES: Ehlers-danlos syndrome is a life-long condition that people are born with. It is caused by an abnormal gene. In most cases, people get ehlers-danlos syndrome when they get the abnormal gene from either their mother or father. Ehlers-danlos syndrome involves the body’s connective tissues, which are the tissues that make up and support the skin, bones, blood vessels, and other organs. ...Read more

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Is narcolepsy inherited?

Yes: Up to 10% of narcolepsy patients have family members with the illness. Twins have an even higher chance of both having the illness. ...Read more

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Is ts inherited?

Need More Info: Which "ts" are you referring to? Tuberous sclerosis, tourette's syndrome, turner syndrome, torkelson syndrome, tay-sachs disease, torch syndrome, and many more less common uses of the abbreviation. ...Read more

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How do people inherit ehlers-danlos syndrome, vascular type?

How do people inherit ehlers-danlos syndrome, vascular type?

Not well known: The inheritance pattern is variable. In the more common eds type3 (hypermobility type), the inheritance is autosomal dominant meaning 50% of offspring would be expected to have it. Rarer forms like the vascular type is less predictable. If you have a parent who died of aortic dissection, you should be checked yourself with an echocardiogram. ...Read more

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Is hla-dq2 autosomal dominant?

Is hla-dq2 autosomal dominant?

No: The histocompatibility antigen system is totally different and has nothing to do with being either dominant or recessive. ...Read more

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What type of inheritance for osteogenesis imperfecta?

What type of inheritance for osteogenesis imperfecta?

Autosomal dominant: Which means one copy of the altered gene in each cell is sufficient to cause the condition. And less comnnly autosomal recessive type of inhertance which means two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene. ...Read more

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Is cfs genetic?

Is cfs genetic?

Poor Understanding: There is a poor understanding of cfs and it's causes. In the future, we may discover a genetic predisposition to people developing cfs. Likely more than one factor involved (i.e. Genetics, infection, environment, etc). ...Read more

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