Mendelian Disorders

- (Note: Each and every one of the links below will take you to
the Chicago Center for Jewish Genetic Disorders.

Bloom Syndrome

"Bloom syndrome is a condition which is inherited in a recessive fashion. The gene responsible in this disorder is involved in the copying and repair of the genetic information in the cells of the body. The most serious characteristics of this condition are a predisposition to cancer and infections." -> more information!

Canavan Disease

"Canavan disease is caused by a deficiency of an enzyme called aspartoacylase (ASA). Most children with this disorder appear normal at birth, but lack of this enzyme affects the brain and results in progressive deterioration of the affected child." -> more information!

Cystic Fibrosis

"Cystic fibrosis (CF) is a progressive disorder that causes the body to produce an abnormally thick, sticky mucus which is present in the lungs and digestive system. There are a variety of symptoms including frequent respiratory infections, poor weight gain, and progressive lung damage." -> more information!

Factor XI Deficiency

"Factor XI binds to platelets to stop bleeding. Deficiency of Factor XI causes a (usually) mild bleeding disorder that can become more serious after surgery, tooth extraction, or injury. Individuals with this factor deficiency are prone to easy bruising, nosebleeds, or blood in their urine." -> more information!

Familial Dysautonomia (Riley-Day syndrome)

"This is a disorder which affects functions of the body such as swallowing, temperature regulation, sensitivity to heat and pain, and tearing of the eyes. This condition is seen almost exclusively in Ashkenazi Jews." -> more information!

Fanconi Anemia

"Fanconi anemia is a disorder characterized by a reduced production of all types of blood cells in the body. The most serious problem associated with this disorder is an increased risk for cancer." -> more information!

Gaucher Disease

"This disease is caused by the deficiency of an enzyme called beta-glucosidase. This enzyme is involved in breaking down a specific fatty substance in the body. Lack of this enzyme causes this fatty substance to accumulate in the bone marrow, spleen, liver, and other parts of the body, and can result in anemia, low platelet count and easy bruising and bleeding, bone pain, and bone fractures, even with little trauma." -> more information!

Mucolipidosis IV

"Mucolipidosis IV (MLIV) is a progressive disease which affects the brain and nervous system. The specific cause of this disorder has not been identified." -> more information!

Niemann-Pick Disease

"This disease is caused by a deficiency of an enzyme called sphingomyelinase, an enzyme responsible for breaking down a specific fat in the body. Lack of sphingomyelinase causes an accumulation of this fat in various body organs. There are several subtypes of this condition." -> more information!

Non-Classical Adrenal Hyperplasia

"Non-Classical Adrenal Hyperplasia is a disorder resulting from a defect in the enzyme 21-hydroxylase, one of 5 enzymes in the adrenal cortex necessary for conversion of cholesterol to cortisol. Mutations in this gene are also responsible for the much more severe salt-wasting and simple virilizing types of NCAH, which present shortly after birth. ... the much milder symptoms: acne, premature development of pubic hair, accelerated linear growth velocity, advanced bone age, and reduced adult stature. Females may have excess body hair, delayed menarche, menstrual irregularities, and infertility, whereas males may have early beard growth, an enlarged phallus (with proportionally small testes), and diminished fertility. ... " -> more information!

Nonsyndromic Hearing Loss

"Connexin 26 is a non-progressive mild-to-profound sensorineural hearing impairment. There are no other medical findings associated with these mutations." -> more information!

Tay-Sachs Disease

"Tay-Sachs disease is the most familiar of the Jewish genetic disorders. Babies with Tay-Sachs disease are normal at birth. However, at 3-6 months of age, an affected baby will begin to lose developmental skills. Tay-Sachs disease is caused by a deficiency of an enzyme called hexosaminidase A or hex A. Lack of this enzyme affects the brain and the nervous system causing rapid and progressive deterioration." -> more information!

Torsion Dystonia

"Torsion dystonia I is a progressive movement disorder characterized by sustained, twisting muscle spasms. With time, the frequency and duration of these spasms increases, leading to joint contractures and progressive disability" -> more information!

Disease Predisposition Genes

- (Note: The two items (Cancers) listed below have have busted (bad) links. Just go to the Chicago Center for Jewish Genetic Disorders and do a search for them.

• Breast Cancer (BRCA1 and BRCA2) ------> Go to their web site for more information!


• Familial Colon Cancer ------> Go to their web site for more information!
  

Sephardi Jewish Genetic Diseases

Beta-thalassemia

"Beta-thalassemia is caused by a reduced amount of the normal adult form of hemoglobin, hemoglobin A (HbA), which carries oxygen to the tissues in the body. Hemoglobin A consists of 2 types of globin chains, alpha and beta. Beta-thalassemia results when the beta-chains are non-functional or are present in reduced amounts." -> more information!

Familial Mediterranean Fever

"Familial Mediterranean Fever (FMF) is characterized by recurrent painful episodes of fever, peritonitis (abdominal pain), pleuritis (lung inflammation leading to painful breathing), and/or arthritis in the hip, knee, and/or ankle, lasting 2 - 3 days. The most severe complication is amyloidosis, a condition resulting from accumulation of a starch-like glycoprotein (amyloid) in tissues and organs, impairing their function. This can lead to kidney failure and occurs most commonly in untreated Jews of Northern African ethnicity and in patients of Turkish heritage." -> more information!

Glucose-6-phosphate dehydrogenase deficiency

"Deficiency of G6PD (found in red blood cells) can cause a hemolytic anemia. The anemia can vary in severity from life-long anemia, to rare bouts of anemia, to no symptoms. It can also be induced by certain oxidative drugs, infections, or ingestion of fava beans." -> more information!

Type III Glycogen Storage disease

"Glycogen is one of the primary fuel reserves for the body's energy needs. Stores of hepatic glycogen serve as a reserve for blood glucose during times of fasting and muscle glycogen serves as a reserve for substrates needed for ATP production during exercise. In glycogen storage disease, type III (GSD III), liver and/or muscle are unable to completely break down the stored glycogen to glucose, which is needed for energy production. Individuals with GSD III may develop hypoglycemia (low blood sugar) with fasting, and will typically have enlargement of the liver because of glycogen accumulation there." -> more information!

Names & Addresses To Remember

Jewish Genetic Diseases (A Mazornet Guide)
Internet: http://www.mazornet.com/genetics/index.asp

Jewish Diseases.com
Internet: http://www.jewishdiseases.com/

National Jewish Disease Management Services
Internet: http://www.njc.org/health-plans/disease-mgmt/services/index.aspx

Remember! There is much more that can be learned about the various and many Jewish Genetic Disorders that it makes great sense to check them out according to which one, or ones apply to you. If you have any questions, comments, or suggestions, e-mail me at .