Horizon Screening Options

Comprehensive
screening options

Comprehensive
screening options

Comprehensive
screening options

Comprehensive
screening options

Disease List:

3 6 A B C D E F G H I J K L M N O P R S T U V W Z

Familial Hyperinsulinism, ABCC8-Related

  • Horizon 106
  • Horizon 137
  • Horizon 274

What is Familial Hyperinsulinism, ABCC8-Related?

Familial Hyperinsulinism, ABCC8-Related is an autosomal recessive disorder that causes the insulin-making cells of the pancreas to release too much insulin. Insulin is a hormone that controls blood sugar. Too much insulin causes hypoglycemia (low blood sugar), even after eating. Symptoms of Familial Hyperinsulinism, ABCC8-Related include tiredness, irritability, and poor appetite. If untreated, repeated episodes of low blood sugar can result in breathing problems, vision problems, seizures, brain damage, intellectual disability, and coma. The symptoms of Familial Hyperinsulinism, ABCC8-Related range from mild to severe, even among affected individuals within the same family. Early diagnosis and treatment can reduce and often prevent more serious health problems. Less commonly, children with mutations in the same gene may have a different inherited disorder called Neonatal Diabetes Mellitus which is usually autosomal recessive, but is sometimes inherited in an autosomal dominant manner.

What causes Familial Hyperinsulinism, ABCC8-Related?

Familial Hyperinsulinism, ABCC8-Related is caused by a gene change, or mutation, in both copies of the ABCC8 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. 

Familial Mediterranean Fever

  • Horizon 106
  • Horizon 274

What is Familial Mediterranean Fever?

Familial Mediterranean Fever is an autosomal recessive disorder that causes episodes of inflammation and pain, often with fever and sometimes with rash or headache.  Commonly the pain involves the joints, abdomen and chest, but can happen in other parts of the body as well.  A buildup of protein in the body’s organs (amyloidosis), including the kidneys, can lead to kidney failure.  Symptoms are variable and often begin in childhood but can begin in adulthood as well, and there are rare people who never develop symptoms.  Lifelong medical treatment is often needed to help prevent attacks and organ damage.

What causes Familial Mediterranean Fever?

Familial Mediterranean Fever is caused by a gene change, or mutation, in both copies of the MEFV gene pair.  These mutations cause the genes to not work properly or not work at all.  When both copies of this gene do not work correctly, it can cause the symptoms described above.

Carriers for Familial Mediterranean Fever may have some symptoms of the disorder which are typically milder than individuals with the full condition. 

Familial Nephrogenic Diabetes Insipidus, AQP2-Related

  • Horizon 274

 

What is Familial Nephrogenic Diabetes Insipidus, AQP2-Related?

Familial Nephrogenic Diabetes Insipidus, AQP2-Related is an autosomal recessive condition caused by an imbalance of water in the body. Affected individuals make too much urine, causing excessive thirst and dehydration if enough fluids are not taken in. Signs and symptoms begin in the first few months of life and include feeding problems, failure to gain weight and grow at the expected rate (failure to thrive), fever, irritability, diarrhea, and vomiting. Chronic dehydration can lead to slow growth and delayed development. Over time damage can occur to the bladder and kidneys. With treatment, affected individuals can lead healthy lives. In rare cases, symptoms do not appear until later in childhood or early adulthood. Rarely (less than 1% of the time), this condition is inherited in an autosomal dominant manner.

What causes Familial Nephrogenic Diabetes Insipidus, AQP2-Related?

Familial Nephrogenic Diabetes Insipidus, AQP2-Related is caused by a change, or mutation, in both copies of the AQP2 gene. These mutations cause the genes to not work properly or not work at all. Normal function of the AQP2 gene pair is important for how much water is put into the urine. When both copies of the AQP2 gene pair are not working, it results in the symptoms described above. 

Fanconi Anemia, Group A

  • Horizon 106
  • Horizon 274

What is Fanconi Anemia, Group A?

Fanconi Anemia, Group A is an autosomal recessive disorder that causes bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects.  Currently there is no cure for this condition and treatment is based on symptoms.

What causes Fanconi Anemia, Group A?

Fanconi Anemia, Group A is caused by a gene change, or mutation, in both copies of the FANCA gene pair.  These mutations cause the genes to not work properly or not work at all. The job of the FANCA genes is to help repair DNA within cells. When both copies of this gene pair do not work correctly, it can cause cell death or uncontrolled cell growth which leads to the symptoms described above.

Fanconi Anemia, Group C

  • Horizon 27
  • Horizon 106
  • Horizon 137
  • Horizon 274

What is Fanconi Anemia, Group C?

Fanconi Anemia, Group C is an autosomal recessive disorder that causes bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects.  Currently there is no cure for this condition and treatment is based on symptoms.

What causes Fanconi Anemia, Group C?

Fanconi Anemia, Group C is caused by a gene change, or mutation, in both copies of the FANCC gene pair.  These mutations cause the genes to not work properly or not work at all.  The function of the FANCC genes is to help repair DNA within cells.  When both copies of this gene do not work correctly, it can cause cell death or uncontrolled cell growth which leads to the symptoms described above.

Fanconi Anemia, Group G

  • Horizon 274

What is Fanconi Anemia, Group G?

Fanconi Anemia, Group G is an autosomal recessive disorder that causes bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects.  Currently there is no cure for this condition and treatment is based on symptoms.

What causes Fanconi Anemia, Group G?

Fanconi Anemia, Group G is caused by a gene change, or mutation, in both copies of the FANCG gene pair.  These mutations cause the genes to not work properly or not work at all. The function of the FANCG genes is to help repair DNA within cells. When both copies of this gene pair do not work correctly, it can cause cell death or uncontrolled cell growth which leads to the symptoms described above.

Fragile X Syndrome

  • Horizon 4
  • Horizon 27
  • Horizon 106
  • Horizon 137
  • Horizon 274

What is Fragile X Syndrome?

Fragile X Syndrome is an X-linked inherited disorder.  It is the most common inherited cause of intellectual disability and occurs in about 1 in 4000 males and 1 in 8000 females. 

Boys with Fragile X Syndrome typically have more serious learning and behavior problems than girls. On average, boys have moderate to severe intellectual disability and girls often have mild intellectual disability.  Behavior and emotional problems are common, and autism spectrum disorder is sometimes present. At this time there is no cure for Fragile X Syndrome and treatment is based on symptoms. 

What causes Fragile X Syndrome?

Fragile X Syndrome is caused by a mutation (change) in the FMR1 gene known as a CGG repeat.  Humans typically have between 6 and 44 copies of CGG in the FMR1 gene.  In people with Fragile X Syndrome, there are more than 200 copies of CGG.  The large number of repeated CGGs causes the gene to turn off and not work properly. This leads to the specific set of learning and development problems found in Fragile X Syndrome.

A carrier for Fragile X Syndrome is someone who has a mutation (change) in one FMR1 gene. This change is called a ‘premutation’ and has between 55 and 200 CGG copies.  Women who are premutation carriers have an increased chance of having children affected with Fragile X Syndrome. 

Fumarase Deficiency

  • Horizon 137
  • Horizon 274

What is Fumarase Deficiency?

Fumarase Deficiency is an autosomal recessive disorder that affects the brain and nervous system.  Signs and symptoms begin in infancy and include small head size, abnormal brain development, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). Affected infants may also have seizures, intellectual disability, unusual facial features, and enlarged liver and spleen (hepatosplenomegaly). Death often occurs in infancy but some individuals survive to early adulthood. Currently there is no cure or specific treatment for Fumarase Deficiency.

What causes Fumarase Deficiency?

Fumarase Deficiency is caused by a gene change, or mutation, in both copies of the FH gene pair. These mutations cause the genes to not work properly or not work at all. The function of the FH gene is to help the cells in the body use oxygen and make energy. When both copies of this gene pair do not work correctly, it leads to problems in brain development and causes the symptoms described above. 

Individuals who are carriers for one mutation in the FH gene have an increased risk for developing multiple skin and uterine growths called leiomyomas.   A small number of carriers of an FH mutation may have an autosomal dominant condition called Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).  Symptoms of HLRCC usually begin in early adulthood and include benign growths (leiomyomas) in the skin and uterus, and an increased risk for a specific type of kidney cancer called papillary renal cell cancer. 

Galactokinase Deficiency (Galactosemia, Type II)

  • Horizon 274

What is Galactokinase Deficiency (Galactosemia, Type II)?

Galactokinase Deficiency, also known as Galactosemia, Type II, is an autosomal recessive condition in which the body cannot digest a type of sugar called galactose.  Galactose is found in milk and dairy products as well as some fruits and vegetables.  If children with Galactokinase Deficiency eat food containing galactose, it builds up in the blood and will cause cataracts (clouding of the lens of the eye). When the condition is found and treated early, cataracts usually don’t develop.  Treatment usually includes a medical diet low in galactose along with specific supplements. 

What causes Galactokinase Deficiency (Galactosemia, Type II)?

Galactokinase Deficiency is caused by a gene change, or mutation, in both copies of a gene called GALK1. These mutations cause the genes to not work properly or not work at all.  The GALK1 gene pair is needed to help the body break down the sugar called galactose.  When both copies of the GALK1 gene do not work correctly, galactose builds up in the body and can cause cataracts. 

Galactosemia

  • Horizon 27
  • Horizon 106
  • Horizon 137
  • Horizon 274

What is Galactosemia?

Galactosemia is an autosomal recessive disorder that affects how the body breaks down a sugar called galactose.  Galactose is present in many foods including dairy products.  For individuals with Galactosemia, the body cannot use galactose to make energy.  Unless treatment is started early in life, a toxic buildup of certain sugars happens in the body leading to health problems.

Affected children may have classic or variant Galactosemia.  Treatment of classic Galactosemia usually involves a galactose and lactose free diet. Without treatment, classic Galactosemia is associated with life-threatening complications that can appear within days after birth.  Affected infants typically develop feeding problems, a lack of energy (lethargy), failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and bleeding.  Affected children may also have delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability.  Children with variant Galactosemia can have milder symptoms and may require less treatment than children with classic Galactosemia.  With treatment many children with Galactosemia can lead healthy lives. 

What causes Galactosemia?

Galactosemia is caused by a gene change, or mutation, in both copies of the GALT gene pair.  These mutations cause the genes to not work properly or not work at all. The function of the GALT genes is to break down the sugar galactose in the body that comes from food.  When both copies of this gene do not work correctly it leads to the symptoms described above.

Gaucher Disease

  • Horizon 27
  • Horizon 106
  • Horizon 137
  • Horizon 274

What is Gaucher Disease?

Gaucher Disease is an autosomal recessive disorder that commonly affects the liver, spleen, and bone marrow. Gaucher Disease, Type 1 is the most common form of the disease and causes enlarged liver and spleen with bone abnormalities.  Gaucher Types 2 and 3 cause brain and nervous system problems such as seizures and low muscle tone (hypotonia) in addition to the other symptoms listed above.  Currently there is no cure for Gaucher Disease, although lifelong enzyme replacement therapy can help prevent or lessen some of the symptoms.

What causes Gaucher Disease?

Gaucher Disease is caused by a gene change, or mutation, in both copies of the GBA gene pair.  These mutations cause the genes to not work properly or not work at all.  When both copies of this gene do not work correctly, it leads to the symptoms described above. 

Gitelman Syndrome

  • Horizon 274

What is Gitelman Syndrome?

Gitelman Syndrome is an autosomal recessive disorder that causes kidney problems.  In people with Gitelman Syndrome, the kidneys cannot filter certain substances correctly from the blood to urine.  This leads to an imbalance of potassium, magnesium, and calcium in the blood. The signs and symptoms of Gitelman Syndrome vary from person to person and are often mild.  Symptoms usually appear in late childhood or the teenage years and may include painful muscle spasms, muscle weakness or cramping, dizziness, and salt craving.  Also common is a tingling or prickly sensation in the skin, most often on the face.  Some people also have chronic tiredness, low blood pressure, an abnormal heart rhythm, and a painful joint condition called chondrocalcinosis.  Treatment with magnesium salt supplements is effective in preventing or lessening the symptoms, although most people with Gitelman Syndrome never need treatment.

What causes Gitelman Syndrome?

Gitelman Syndrome is most often caused by a gene change, or mutation, in both copies of the SLC12A3 gene pair.  These mutations cause the genes to not work properly or not work at all.  When both copies of this gene do not work correctly, it leads to the symptoms described above. 

Glutaric Acidemia, Type 1

  • Horizon 137
  • Horizon 274

What is Glutaric Acidemia, Type 1?

Glutaric Acidemia, Type 1 (also called Glutaryl-CoA Dehydrogenase Deficiency) is an autosomal recessive disorder that causes the body to be unable to break down certain proteins from food for use in the body. Signs and symptoms of Glutaryl-CoA Dehydrogenase Deficiency, Type 1 usually begin between age 4 months and 2 years and include fatigue, irritability, weak muscle tone, growth delay poor appetite, vomiting, fever, tight muscles, and excessive sweating. Some affected children have intellectual disability. The problems associated with Glutaryl-CoA Dehydrogenase Deficiency. Type 1 may worsen after going a long time without food or with illness. With early diagnosis and treatment, affected children can have healthy growth and development.

What causes Glutaric Acidemia, Type 1?

Glutaric Acidemia, Type 1 is caused by a gene change, or mutation, in both copies of the GCDH gene. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms describe above. 

Glutaric Acidemia, Type 2A

  • Horizon 274

What is Glutaric Acidemia, Type 2A?

Glutaric Acidemia, Type 2A is an autosomal recessive disorder that causes the body to be unable to break down certain fats and proteins from food to make energy. Signs and symptoms of Glutaric Acidemia, Type 2A usually begin in infancy and include fatigue, irritability, weak muscle tone, a “sweaty feet” smell, feeding problems, vomiting, diarrhea, and low blood sugar. Infants born with this condition may have kidney defects, enlarged liver, abnormal brain development, and genital abnormalities. The problems associated with Glutaric Acidemia, Type 2A may worsen with going a long time without food or with illness and can be life-threatening. In some cases symptoms are milder and begin later in childhood or adulthood. With early diagnosis and treatment, some of the more severe problems in Glutaric Acidemia, Type 2A may be avoided.

What causes Glutaric Acidemia, Type 2A?

Glutaric Acidemia, Type 2A is caused by a gene change, or mutation, in both copies of the ETFA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms describe above. 

Glutaric Acidemia, Type 2C

  • Horizon 274

What is Glutaric Acidemia, Type 2C?

Glutaric Acidemia, Type 2C is an autosomal recessive disorder that causes the body to be unable to break down certain fats and proteins from food to make energy. Signs and symptoms of Glutaric Acidemia, Type 2C usually begin in infancy and include fatigue, irritability, weak muscle tone, a “sweaty feet” smell, feeding problems, vomiting, diarrhea, and low blood sugar. Infants born with this condition may have kidney defects, enlarged liver, abnormal brain development, and genital abnormalities. The problems associated with Glutaric Acidemia, Type 2C may worsen with going a long time without food or with illness and can be life-threatening. In some cases symptoms are milder and begin later in childhood or adulthood. With early diagnosis and treatment, some of the more severe problems in Glutaric Acidemia, Type 2C may be avoided.

What causes Glutaric Acidemia, Type 2C?

Glutaric Acidemia, Type 2C is caused by a gene change, or mutation, in both copies of the ETFDH gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms describe above. 

Glycine Encephalopathy, AMT-Related

  • Horizon 137
  • Horizon 274

What is Glycine Encephalopathy, AMT-Related?

Glycine Encephalopathy, AMT-Related, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder that mainly affects the brain and nervous system.  It causes a toxic buildup in the body of a building block of protein called glycine.  Affected individuals usually have symptoms shortly after birth including extreme tiredness, feeding problems, weak muscle tone, jerking movements, and breathing problems that worsen and become life-threatening.  Many affected children die in infancy.  Children who survive with Glycine Encephalopathy, AMT-Related have intellectual disability, seizures, and abnormal movements.  Affected males may have greater chance of survival than affected females.  Some affected individuals have a milder disease with symptoms that begin in childhood or adulthood. 

What causes Glycine Encephalopathy, AMT-Related?

Glycine Encephalopathy, AMT-Related is caused by a gene change, or mutation, in both copies of the AMT gene pair. These mutations cause the genes to not work properly or not work at all. The function of the AMT gene pair is to break down glycine (a building block of protein) in the body. When both copies of this gene do not work correctly, it leads to a buildup of glycine in the body, especially the brain, which causes the symptoms described above. 

Glycine Encephalopathy, GLDC-Related

  • Horizon 137
  • Horizon 274

What is Glycine Encephalopathy, GLDC-Related?

Glycine Encephalopathy, GLDC-Related, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder that causes damage to the brain and nervous system.  Lack of a certain enzyme in the body leads to a toxic buildup in the body of a building block of protein called glycine.  Affected individuals usually have symptoms shortly after birth including extreme tiredness, feeding problems, weak muscle tone, jerking movements, and breathing problems that worsen and become life-threatening.  Many affected children die in infancy.  Children who survive with Glycine Encephalopathy, GLDC-Related have intellectual disability, seizures, and abnormal movements.  Affected males may have greater chance of survival than affected females.  Some affected individuals have a milder disease with symptoms that begin in childhood or adulthood. 

What causes Glycine Encephalopathy, GLDC-Related?

Glycine Encephalopathy, GLDC-Related is caused by a gene change, or mutation, in both copies of the GLDC gene pair.  These mutations cause the genes to not work properly or not work at all. The function of the GLDC genes is to breakdown glycine (a building block of protein) in the body. When both copies of this gene pair do not work correctly, it leads to a buildup of glycine in the body, especially the brain, which causes the symptoms described above. 

Glycogen Storage Disease, Type 1a

  • Horizon 27
  • Horizon 106
  • Horizon 137
  • Horizon 274

What is Glycogen Storage Disease, Type 1a?

Glycogen Storage Disease, Type 1a (GSD1a), is an autosomal recessive disorder with signs and symptoms that begin in infancy.  Fat and glycogen (stored sugar) build up in the liver and kidneys and cause enlarged liver and kidney problems.  Other symptoms include growth problems, low blood sugar (hypoglycemia), and sometimes seizures.  Currently there is no cure for this condition.  However, if started early, medical treatment, including a special medical diet and medications, can help prevent or lessen some of the symptoms. 

What causes Glycogen Storage Disease, Type 1a?

Glycogen Storage Disease, Type 1a is caused by a gene change, or mutation, in both copies of the G6PC gene pair.  These mutations cause the genes to not work properly or not work at all.  When both copies of this gene do not work correctly, it leads to the symptoms listed above.

Glycogen Storage Disease, Type 1b

  • Horizon 137
  • Horizon 274

What is Glycogen Storage Disease, Type 1b?

Glycogen Storage Disease, Type 1b (GSD1b) is an autosomal recessive disorder that causes a stored form of sugar called glycogen to build up in the cells of the body. Glycogen builds up in the liver, kidneys, and small intestines, causing these organs not to function correctly. Symptoms begin in the first few months of life and include low blood sugar, enlarged liver, short stature, delayed puberty, and high amounts of uric acid and cholesterol in the blood.  Some children with GSD1b have repeated bacterial infections caused by low levels of a type of white blood cell called neutrophils (neutropenia). Some affected people may also develop chronic inflammation of the pancreas, gum disease, chronic inflammatory bowel disease, and or Crohn's disease. Medical and dietary treatment helps lessen the effects of GSD1b.

What causes Glycogen Storage Disease, Type 1b?

Glycogen Storage Disease, Type 1b is caused by a gene change, or mutation, in both copies of the SLC37A4 gene pair. These mutations cause the genes to not work properly or not work at all.  When both copies of this gene do not work correctly, it leads to the symptoms described above.

Glycogen Storage Disease, Type 2 (Pompe Disease)

  • Horizon 106
  • Horizon 137
  • Horizon 274

What is Glycogen Storage Disease, Type 2 (Pompe Disease)?

Glycogen Storage Disease, Type 2, also known as Pompe Disease or GSD2, is an autosomal recessive disorder that causes progressive weakness in the muscles used for movement and breathing. People with Glycogen Storage Disease, Type 2 are missing an enzyme that breaks down glycogen, a stored form of sugar used for energy by the muscles. As a result, glycogen builds up in the body, mostly in the muscles, and damages these cells. There are two main forms of Glycogen Storage Disease, Type 2, infantile-onset and late-onset.

The infantile form is the most common and most severe type of Glycogen Storage Disease, Type 2. Infants may appear normal at birth but begin to show symptoms in the first few months of life. Symptoms include decreased muscle tone (hypotonia), muscle weakness, difficulty feeding, delayed growth, breathing problems, enlarged liver and heart, and sometimes an enlarged tongue.  The infantile form of Glycogen Storage Disease, Type 2 progresses quickly and most untreated infants will die within the first year of life.  Enzyme replacement therapy may slow down the progression of heart disease and muscle weakness. 

Symptoms of late-onset Glycogen Storage Disease, Type 2 can begin at any time from childhood to adulthood.  Symptoms include progressive muscle weakness and problems with breathing, often leading to the need for wheelchair and breathing machine assistance. This form of the disease progresses more slowly, especially with enzyme-replacement therapy.

What causes Glycogen Storage Disease, Type 2 (Pompe Disease)?

Glycogen Storage Disease, Type 2 is caused by a gene change, or mutation, in both copies of the GAA gene pair.  These mutations cause the genes to not work properly or not work at all. When both copies of the gene do not work correctly, it leads to the symptoms described above.

Back to Top