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Doctor insights on: Mucolipidosis Type Iv Mutation

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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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Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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Are there different options for treating mucolipidoses?

Are there different options for treating mucolipidoses?

Inborn errors: Complications of the mucopolysaccharidoses (mps) can be widespread, affecting the respiratory, cardiac, skeletal and connective tissue, and nervous systems. Most treatments for mps are symptomatic and cannot prevent the eventual decline in function. However, specific therapies, such as hematopoietic stem cell transplantation or enzyme replacement, may alter the natural history of these diseases. ...Read more

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What type of mutation causes hemophilia?

What type of mutation causes hemophilia?

Hemophilia: A mutation on the x chromosome that affects the blood clotting factors viii or ix. ...Read more

Dr. Jeffrey Unger Dr. Unger
<b>2</b> doctors agreed:
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Living with Type 1 Diabetes (Checklist)

Check your blood glucose 2 hours before and 2 hours after eating
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Check with your doctor if your post-meal glucose is lower than your pre-meal glucose, as you may have hypoglycemia
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Consider using a continuous sensor if you do not feel hypoglycemia symptoms
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Use insulin pumps, as they can minimize your risk of hypoglycemia
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Which type of genetic disorder is colon cancer?

Which type of genetic disorder is colon cancer?

Colon cancer: Most colon cancer is spontaneous arising from polyps in the colon. There are some genetic causes such as hnpcc or lynch family syndrome. Deletion of dcc gene, puetz -jhegers, and some others. ...Read more

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What type of genetic mutation causes breast cancer?

What type of genetic mutation causes breast cancer?

Many: If you inherit mutated brca1 or brca2 from a parent, your odds are greatly increased. All cancers arise from accumulated mutations and natural selection over your own lifetime, but these can actually be passed from parent to child. ...Read more

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Which type of genetic mutation can cause breast cancer?

Which type of genetic mutation can cause breast cancer?

BRCA: The most commonly described genetic mutations associated with family history include brca1 and brca2 gene mutations. There are several other familial cancer syndromes though, and can be related to other genes such as p53 (li fraumeni syndrome) and pten (cowden's disease). Hereditary genetic syndromes as a whole are rare and comprise only about 10% of patients who have breast cancer. ...Read more

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What type of genetic disorder is sickle cell anemia or trait?

What type of genetic disorder is sickle cell anemia or trait?

Hemoglobinopathy: Patients with sickle cell anemia make an abnormal hemoglobin (hgb.). Normal HGB consists of paired protein chains (globin) and an iron containing part (heme). Patients with ssa inherit an abnormal beta-globin gene from each parent. Carriers have one normal beta-globin gene and one sickle beta globin gene. The carriers (trait) have no symptoms. ...Read more

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Which type of chromosomal mutation causes down syndrome?

Which type of chromosomal mutation causes down syndrome?

Not mutation,number : Down syndrome is an abnormality of chromosome numbers, not a trait or mutation in the gene code. During conception only one of chromosome of each pair is given by both parents to the fertile egg.If a parent adds their 2 nbr 21chm to the other parents nbr 21, 3 end up in the egg ; the excess 21 causes the all the problems.Rare forms are causes by a extra piece of a 21, but that's another issue. ...Read more

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What type of mutation is canavan disease?

What type of mutation is canavan disease?

Mutation of gene: More than 55 mutations in the aspa gene are known to cause canavan disease. Mutations in the aspa gene reduce or eliminate the activity of aspartoacylase, which interfers with maintaining the brain's white matter, which consists of nerve fibers covered by myelin. Nerve fibers without this protective covering malfunction and die, damaging the brain and causing canavan disease. ...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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What type of mutation causes thalassemia?

What type of mutation causes thalassemia?

Hemoglobin: formation is affected in thalassemia. Mutation in one or both of the genes responsible for the production of hemoglobin proteins (alpha and beta globin) lead to decreased production of these proteins, decreased hemoglobin formation and resulting anemia. ...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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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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What type of mutation would convert a proto-oncogene into an oncogene?

Activating mutation: A protooncogene refers to a normal gene that can become oncogenic if it is overactive. There are many different types of activating mutations. ...Read more

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What type of genetic mutation causes albinism?

What type of genetic mutation causes albinism?

Albinism: There are several. Go to wikipedia and https://www.ncbi.nlm.nih.gov/pubmed/ ...Read more

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Which type of mutation causes down syndrome?

Which type of mutation causes down syndrome?

Trisomy 21: Down syndrome is also called trisomy 21. That means that there is a partial or complete third copy of the chromosome 21. It is the most common chromosomal abnormality. ...Read more

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Dr. Kevin Crutchfield
19 doctors shared insights

Mucolipidoses (Definition)

A group of genetic metabolic disorders. Body is unable to process the turnover of various cell components. Includes ...Read more