What are RASopathies?

The RASopathies are a clinically defined group of medical genetic syndromes

genetic syndromes

Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder. Around 65% of people have some kind of health problem as a result of congenital genetic mutations.

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Genetic disorder - Wikipedia

caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway.

What causes RASopathies?

Changes in the genes (our genetic "blueprints") in the RAS pathway cause the RASopathies. These happen when there's a problem in one of the steps in the pathway. Cells react in ways they shouldn't — for instance, multiplying when they should die off. Sometimes, a RASopathy runs in families.

Is Noonan a RASopathy?

Having a RASopathy syndrome may increase a person's risk of certain types of cancer. RASopathy syndromes include cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, neurofibromatosis type 1, Noonan syndrome, and capillary malformation-arteriovenous malformation syndrome.

Is NF1 a RASopathy?

Neurofibromatosis type 1 (NF1) is one of the most common RASopathy. As part of the NF Clinic other tumor predisposition conditions are included such as neurofibromatosis type 2 and schwannomatosis.

Do I have Noonan syndrome?

People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum ), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward.

What are RASopathies?

What does someone with Noonan syndrome look like?

Teeth may be crooked, the inside roof of the mouth (palate) may be highly arched and the lower jaw may be small. Facial features may appear coarse, but appear sharper with age. The face may appear droopy and expressionless. Head may appear large with a prominent forehead and a low hairline on the back of the head.

Is Noonan's hereditary?

Noonan syndrome is most often an autosomal dominant genetic disorder caused by abnormalities (mutations) in several different genes, the main ones being: PTPN11, KRAS, SOS1 RIT1 and RAF1.

How is neurofibromatosis inherited?

Inheritance. Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent .

What is neurofibromatosis Ras?

Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein called neurofibromin and is one of several genes that (when mutant) affect RAS–MAPK signalling, causing related diseases collectively known as RASopathies.

What causes Costello Syndrome?

Causes. Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division . Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active).

How common are RASopathies?

The RASopathies are one of the largest known groups of malformation syndromes, affecting approximately 1 in 1,000 individuals.

What is Kabuki syndrome?

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.

What is the Ras MAPK pathway?

The Ras/Raf/MAPK pathway is probably the best characterized signal transduction pathway in cell biology. The function of this pathway is to transduce signals from the extracellular milieu to the cell nucleus where specific genes are activated for cell growth, division and differentiation.

What are the typical symptoms of NF1?

What is the difference between NF1 and NF2?

The NF1 gene makes a protein called neurofibromin, which regulates cell division in the nervous system and functions as a kind of molecular brake to keep cells from growing out of control. The gene for NF2 is located on chromosome 22. The NF2 gene product is a tumor-suppressor protein (called merlin or schwannomin).

Are neurofibromas painful?

A genetic disorder such as neurofibromatosis (NF) can cause multiple neurofibromas. Most of these tumors do not hurt or cause problems, but some neurofibromas itch or are painful, and some become tumors. Treatment consists of observation and, if necessary, medications or surgical removal.

What is the life expectancy of a person with neurofibromatosis?

If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder.

At what age is neurofibromatosis usually diagnosed?

Neurofibromatosis 1. Neurofibromatosis 1 (NF1) is usually diagnosed during childhood. Signs are often noticeable at birth or shortly afterward and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.

Does neurofibromatosis worsen with age?

Unfortunately, NF1 can worsen with time, resulting in new growths over the body that cause major psychological and cosmetic issues.

What causes Noonan's disease?

Noonan syndrome is caused by a faulty gene, which is usually inherited from one of the child's parents. There's no evidence to suggest the genetic fault is caused by environmental factors, such as diet or exposure to radiation.

What is the life expectancy of someone with Noonan syndrome?

It is one of the most common non-chromosomal disorders in children with congenital heart disease, with an estimated prevalence worldwide of 1 in 1000-2500. The average age at diagnosis is nine years, and life expectancy is likely normal if serious cardiac defects are absent.

What is the life expectancy for people with Noonan syndrome?

Life expectancy with Noonan syndrome is generally normal, but there may be health problems that need to be addressed with medical or surgical attention. Bleeding can result in blood loss, which can cause symptoms of fatigue.

Is Noonan syndrome a form of autism?

ASD & Noonan Syndrome

There is a 15-30% prevalence of autism in NS. This is not surprising given genome analysis has shown the RAS/MAPK pathway is involved in autism and mutations in this pathway are responsible for Noonan Syndrome. This is significantly higher incidence of ASD than in the non-NS population (1.5%).

What is another name for Noonan syndrome?

Other names. Male Turner syndrome, Noonan–Ehmke syndrome, Turner-like syndrome, Ullrich–Noonan syndrome.

What part of the body does Noonan syndrome affect?

Noonan syndrome is a condition that some babies are born with. It causes changes in the face and chest, usually includes heart problems, and slightly raises a child's risk of blood cancer (leukemia). Noonan syndrome is a pretty common condition, affecting 1 in 1,000–2,500 babies.