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Doctor insights on: Classical Type Eds

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What type of genetic disorder is klinefelter syndrome classified as?

What type of genetic disorder is klinefelter syndrome classified as?

Chromosomal disorder: Klinefelter syndrome is also known as XXY condition. Men with this condtion have an extra x chromosome in most of their cells. Not all men with the condition have all of the symptoms described by klinefelter and many are not even aware that they have the condition. 1 in 500 men are xxy. During puberty, most males with the condition are taller with less muscular bodies and less facial hair. ...Read more

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Is SMA type II a congenital affliction?

Is SMA type II a congenital affliction?

Yes: Spinal muscular atrophy (sma) is caused by a mutation in the survival motor neuron gene 1 (smn1). Most of the time, parents are unaffected and the mutation newly appears in the affected child. ...Read more

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What type of antibody is associated with ABO group types?

What type of antibody is associated with ABO group types?

ABO blood groups: Not sure i understand your question. Abo antigens are glycoproteins (sugar-like molecules) found on the surface of red cells. There are 4 common types: groups a, b, ab, and o. People with type a blood have antibodies against b. Those with type b have antibodies against a. Those with type ab don't have any antibodies at all, while those with type o have antibodies against both a and b. ...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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What type of mutation causes dementia with lewd bodies?

What type of mutation causes dementia with lewd bodies?

Allele, not a mutant: It's not well understood, but often appears in those w/ Parkinson's, so a link with the PARK11 gene has been studied. Like Alzheimer's or Parkinson's, most cases since not all end up w/ it LBD is not thought to be strongly inheredited. Yet LBD risk is heightened w/ inheritance of an allele. Info here: https://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies ...Read more

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Is hypermobility syndrome different from the EDS hypermobility type? is so, how?

Is hypermobility syndrome different from the EDS hypermobility type? is so, how?

Hyper mobility: Yes there is a large difference as hyper mobile joints is just about flexibility where EDS is a genetic problem of connective tissue so involves several organs. ...Read more

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What type of mutation causes alagille syndrome?

What type of mutation causes alagille syndrome?

Autosomal dominant: Alagille syndrome has an autsomal dominant genetic inheritance pattern. It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs. ...Read more

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Which ehlers danlos type is associated with a large bladder?

Which ehlers danlos type is associated with a large bladder?

Ehlers Danlos: At least 24 cases of bladder diverticula are reported since1942. All are male and range from 18months to 49 years with 80% presenting before 16 years. Urinary infection, dysuria, haematuria, abdominal mass, stones and bladder rupture are recognized presentations and it is seen with several types: several subtypes (i, ii, iii, iv, v, vi and ix). ...Read more

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Is angleman syndrome a type of psychological disease?

No: Angelman syndrome is a genetic disorder with a small deletion on chromosome 15. Persons wiht this often have mental retardation but are also frequently noted to be laughing. They however may alsi gave bugtnares and autistic symptoms. ...Read more

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What type of personality traits are associated with ABO blood groups?

What type of personality traits are associated with ABO blood groups?

There are none: Blood groups have no relationship to personality, any more than one's zodiac sign actually does. During the 1990's, a single crook wrote a series of books claiming that blood group impacted general health, personality, best diet and so forth. It was totally made up. I'm sorry this came up. ...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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What type of mutation causes barth syndrome?

X-linked mutation: Barth syndrome, also known as 3-methylglutaconic aciduria type II (MGCA2), is caused by mutation in the tafazzin gene (TAZ) on chromosome Xq28. Each boy born to a carrier mother has a 50% chance of having it. Each daughter of a carrier mother has a 50% chance of being a carrier. All daughters of men with Barth Syndrome are carriers. https://www.barthsyndrome.org/home has information & resources. ...Read more

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Is diabetes type 1 dominate or recessive trait?

Is diabetes type 1 dominate or recessive trait?

Neither: The tendency toward this disorder is influenced by heredity but not transmitted as a dominant or recessive. It falls into a category called "multifactorial" in which the genes in several different locations & possibly several chromosomes may come into play.Many conditions with about 5% inheritance risk fall into this category. ...Read more

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Is visceral manipulation safe for someone with Ehlers Danlos type 3?

Is visceral manipulation safe for someone with Ehlers Danlos type 3?

Wow : why would you need manipulation in your abdomen for something that just involves your ligaments? ...Read more

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Can neurofibromatosis type 1 progress to neurofibromatosis type 2?

Can neurofibromatosis type 1 progress to neurofibromatosis type 2?

NO : Tow distinct gene mutations. Neurofibroma nf i & nf ii are both inhirted tppe i will show cutaneous, neurological and ortho malformations.Tend to be non cancerous nf ii is less frequent ( i in 40000 ) less skin lesions more neuroligical tumors, like maningiomas, bil aucoatic neuromas, schiwanomas, gliomas is part of misme syndrome. ...Read more

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Differentiate type1 diabetes and type 2 diabetes?

Differentiate type1 diabetes and type 2 diabetes?

Diabetes: 37 M asks: Differentiate type 1 and type2 diabetes. But does not ask how much detail. ANS: I would google this for detailed answer. In brief: 2 is inherited, 1 is not. 1 develops suddenly, 2 does not. 2 associated with obesity 1 usually not. 1 requires insulin. no insulin u die. , 2 does not till advanced. 1 shortens life much more than 2. 1 much more likely to go blind and end up on dialysis. ...Read more

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