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Doctor insights on: Tsc

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Dr. Marvin Ott
21 doctors shared insights

Tsc (Overview)

In medicine, could be tuberous sclerosis complex, or thiazide sensitive carrier, or trans sodium crocetinate (an oxygen diffusion-enhancing compound).


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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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Dr. Marvin Ott
21 doctors shared insights

Tsc (Overview)

In medicine, could be tuberous sclerosis complex, or thiazide sensitive carrier, or trans sodium crocetinate (an oxygen diffusion-enhancing compound).


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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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Living with Multiple Sclerosis (Checklist)

Prevent falls in the home by removing throw rugs and adding grab bars
Once
Stay cool to avoid becoming overheated
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Drink plenty of water
Once
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Is ts inherited?

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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Sickle trait is a recessive gene?

Sickle trait is a recessive gene?

basically yes: The mutation that causes sickle cell disease is a recessive mutation in that you need two copies of the changed gene to have the disease (or one copy plus another mutation on the other gene like beta thalassemia, hemoglobin c, hemoglobin e, etc). If you only have one copy, you have sickle cell trait. ...Read more

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What are the main symptoms of tsc?

What are the main symptoms of tsc?

Depends on "tubers": Typical acne-form facial skin rash with butterfly distribution. Developmental delay from mild to severe. Headaches and seizures. Kidney/flank pain & hematuria, sometimes with very severe blood loss. Vision changes, blurred &/or double vision. ...Read more

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What are dominant vs recessive gene diseases?

What are dominant vs recessive gene diseases?

See below: With a dominant gene trait, the child only needs to receive one copy of the abnormal gene. So, they have a 50% chance of getting the gene. With a recessive gene, the child needs 2 copies of the gene. So, they have a 25% chance of having both genes. ...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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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 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 causes von hippel lindau?

What causes von hippel lindau?

Genetic: Von hippel–lindau disease is a genetic condition caused by a mutation of the “von hippel-lindau tumor suppressor” gene on chromosome 3 .It is autosomal dominant. ...Read more

Dr. Alfred Kim Dr. Kim
2 doctors agreed:
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What gene causes lupus erythematosus?

Dr. Alfred Kim Dr. Kim
2 doctors agreed:
What gene causes lupus erythematosus?

Many genes: The previous answer is right with several genes associated with lupus, but no one knows how those genes cause disease. I think it's important to remember that there is likely many ways to develop lupus symptoms, and this will vary between people. So some of these known genes will be important for some, and not important for others. As we sequence more patients, we'll have more answers. ...Read more

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Pityriasis alba, vitiligo, tsc?

Pityriasis alba, vitiligo, tsc?

Using this site: You get the most from this site when you provide background information on a problem and ask a related question. What you have posted is a question with no context and initials that have no common meaning. You are welcome to start over. Site docs volunteer their time to answer your questions. Any site fees keep it open. ...Read more

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Is leukemia an autosomal dominant or autosomal recessive condition?

Is leukemia an autosomal dominant or autosomal recessive condition?

Neither: Leukemia has a variety of factors of influence;however,it is not inherited as a simple autosomal recessive or dominant trait. ...Read more

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What are the tests for tsc?

What are the tests for tsc?

For various organs: Affected by tsc. Brain ct or MRI for brain tumors, eeg for fevers. Kidney ultrasound or ct to check for kidney tumors & cysts & to monitor. Cardiac us if heart tumor suspected and ekg. Visual field eye testing and fundoscopy. Chest ct if tuberous tumor of lung suspected. ...Read more

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

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What chromosome is congenital melanocytic nevi syndrome?

What chromosome is congenital melanocytic nevi syndrome?

No specific link: The congenital melanocytic nevus syndrome is considered sporadic in its occurrence.A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported.See the recent article : www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2994429. ...Read more

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Is goldenhar syndrome heritable?

Is goldenhar syndrome heritable?

It is a genetic synd: It is a genetic syndrome. There's a bout a 3% chance the child will pass it on and less than a 1% chance it would occur in a sibling of this child of same parents. ...Read more

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Are gene mutations common? What about deletions?

Are gene mutations common? What about deletions?

Gene mutations: Truthfully, the human genome project has revealed that mutations are common. Deletions exist. The impact is not fully understood. But is real. ...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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Cystic fibrosis disease is carried by a recessive allele on which gene?

Cystic fibrosis disease is carried by a recessive allele on which gene?

CFTR: Cystic fibrosis is caused by a mutation of the cftr gene, or cystic fibrosis transmembrane regulator, on chromosome 7. Cftr works as a chloride ion channel which helps to regulate chloride and sodium movement in your lungs and sweat ducts. ...Read more

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What is the treatment for tsc?

What is the treatment for tsc?

Tuberous sclerosis: Affects many organ systems, primarily brain, kidneys and skin, also can affect heart, eyes & lungs. Treatment is largely conservative & be tailored to individual subject as very mild tsc requires none.Benign brain tumor can cause blockage of brain fluids & may require shunting. Benign kidney tumors often bleed & should be treated conservatively preserving function. Early devt, intervention is good. ...Read more

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Is there any testing needed for siblings of people who have tsc?

TSC?: The abbreviation is not specific. If tsc stands for tuberous sclerosis, then genetic testing is available for both type 1 and 2. Given the complexities of interpreting genetic testing, all tests should be done under the care of a clinical geneticist. ...Read more

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What are the tests for tsc?

For various organs: Affected by tsc. Brain ct or MRI for brain tumors, eeg for fevers. Kidney ultrasound or ct to check for kidney tumors & cysts & to monitor. Cardiac us if heart tumor suspected and ekg. Visual field eye testing and fundoscopy. Chest ct if tuberous tumor of lung suspected. ...Read more

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Siblings of people who have tsc?

Get screened: If I had a sibling with TS, even if I had no signs or symptoms, I'd get genetically screened so I could make sure I do not pass the gene on to my own children. ...Read more

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What are the main symptoms of tsc?

Depends on "tubers": Typical acne-form facial skin rash with butterfly distribution. Developmental delay from mild to severe. Headaches and seizures. Kidney/flank pain & hematuria, sometimes with very severe blood loss. Vision changes, blurred &/or double vision. ...Read more

Dr. Alan Ali Dr. Ali
2 doctors agreed:
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What is the definition or description of: tsc?

Dr. Alan Ali Dr. Ali
2 doctors agreed:

TSC: In medicine, could be tuberous sclerosis complex, or thiazide sensitive carrier, or trans sodium crocetinate (an oxygen diffusion-enhancing compound). ...Read more

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Is there any testing needed for siblings of people who have tsc?

TSC?: The abbreviation is not specific. If tsc stands for tuberous sclerosis, then genetic testing is available for both type 1 and 2. Given the complexities of interpreting genetic testing, all tests should be done under the care of a clinical geneticist. ...Read more

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I have TSC&NF1 (inherited) what's the possibility when I have children they'll get it?

I have TSC&NF1 (inherited) what's the possibility when I have children they'll get it?

Serious risk: Both of these have a 50-50 independent chance of being passed to your children. You need to talk with a subspecialist, now, about how you can avoid having this happen and still fulfill any dreams you may have of becoming a mother. I would strongly urge you not to pass these on, and you can be a mother without this happening. Best wishes. ...Read more

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What is the treatment for tsc?

Tuberous sclerosis: Affects many organ systems, primarily brain, kidneys and skin, also can affect heart, eyes & lungs. Treatment is largely conservative & be tailored to individual subject as very mild tsc requires none.Benign brain tumor can cause blockage of brain fluids & may require shunting. Benign kidney tumors often bleed & should be treated conservatively preserving function. Early devt, intervention is good. ...Read more

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Pityriasis alba, vitiligo, tsc?

Using this site: You get the most from this site when you provide background information on a problem and ask a related question. What you have posted is a question with no context and initials that have no common meaning. You are welcome to start over. Site docs volunteer their time to answer your questions. Any site fees keep it open. ...Read more

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I have TSC&NF1 (inherited) what's the possibility of getting pregnant? I've tried multiple times and nothing.

I have TSC&NF1 (inherited) what's the possibility of getting pregnant? I've tried  multiple times and nothing.

Need more info: how were you diagnosed with both TSC and NF1? Need labs. Neither are usually associated with fertility, and both are autosomal dominate. If your were given these diagnoses accurately, you should understand what that means. Did you get genetics counseling? ...Read more

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Is it possible for misdiagnosed? I have nf1 geneticly and TSC because have cafe au lait spots TSC doesn't run in family how did I get it?

Is it possible for misdiagnosed? I have nf1 geneticly and TSC  because have cafe au lait spots TSC doesn't run in family how did I get it?

Mutation: You can acquire many genetically inherited illnesses by spontaneous mutation in utero, or when the baby is developing inside mom during the pregnancy. This is a force of nature that is recignized by many Geneticists ...Read more

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What causes tuberous sclerosis?

What causes  tuberous sclerosis?

Genetic mutations: These people have a genetic mutation at one of two loci TSC1 or TSC2 (hamartin and tuberin). A second mutation in a particular cell results in creation of a tumor. No two TS patients are alike and the severity of the illness varies tremendously. It's not curable, but it's often manageable. Best wishes. ...Read more

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What are the tests for tuberous sclerosis?

What are the tests for tuberous sclerosis?

Genetic mutations: Tuberous sclerosis complex is caused by mutations in the ts1 gene on chromosome 16 and the ts2 gene on chrosome 9.Only one of these has to be affected to have symptoms. Symptoms and their severity vary, even within a family. If a parent has tsc, each of his childen has a 50% chance of having it. Spontaneous mutations also occur. See http://www.Tsalliance.Org for comprehensive information. ...Read more

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What are the symptoms of tuberous sclerosis?

What are the symptoms of tuberous sclerosis?

TUBEROUS SCLEROSIS: Sx are mental retardation, epilepsy, learning disorder, behavioral problems and cardiac, renal, cranial manifestations.Cutaneous findings are shagreen patches, neurofibromatosis, cafe-au-lait spots and tumors. ...Read more

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Is tuberous sclerosis physically limmiting ?

Depends on severity: It is more appropriately known as tuberous sclerosis complex because it is highly varied in presentations..From simple skin lesions to complex neurological (brain/spinal cord), hearing/vision involvements causing severe disabilties. Complicated cases will require multispecialties care ...Very complicated.. ...Read more

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What symptoms does tuberous sclerosis manifest?

What symptoms does tuberous sclerosis manifest?

Small tumors: Ts is a genetic disease that causes small tumors to grow in various places in the body. Tumors can grow in the heart, eyes, brain, kidneys, as well as on the face and skin. Brain tumors will cause seizures, retardation, and hydrocephalus. Kidney tumors can cause kidney failure. Heart tumors can be present even at birth. New medication now available may shrink these tumors. ...Read more

Dr. Harry Vinters
221 doctors shared insights

Tuberous Sclerosis (Definition)

Tuberous sclerosis is a group of two genetic disorders that affect the skin, brain/nervous system, kidneys, and heart, and cause tumors to grow. The diseases are named after a tuber- or root-shaped ...Read more