standard-title Common Genetic Diseases

Common Genetic Diseases

Bloom’s syndrome is caused by failure in DNA repair mechanism leading to genomic instability. The high rate of mutations associated with Bloom’s syndrome typically leads to cancer, which is the primary cause of death in Bloom’s syndrome patients.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Relatively small body type

– Increased sensitivity to sunlight

– Skin red with blisters

– Infertility in Males

– Premature menopause in females

– Diabetes mellitus

Any age, typically mid-twenties 1 in 100

Canavan disease is characterized by low level of myelin substance that serves as insulator around nerve fibers in the brain. Children with Canavan disease have abnormal accumulation of N-acetyl aspartic acid (NAA) in the brain, due to deficiency of the enzyme aspartoacylase (ASA) responsible for the breakdown of NAA. As a result, children born with the disease experience gradual worsening in motor skills and regression of developmental milestones in the first six months of life.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Lack of motor development

– Macrocephaly (large head)

– Abnormal muscle tone

– Developmental delay

– Blindness

Often less than 10 years,sometimes 2 decade 1 in 40-58

Cystic fibrosis (CF) is an inherited disease known for extensive production of mucus, a thick secretion that blocks the respiratory and digestive systems, and alters the normal function of the pancreas. The thick mucus leads to a multi-organ dysfunction affecting breathing, and digestion, and permanent lung damage.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Chronic coughing and inflammation

– Recurrent upper respiratory tract infection

– Lung damage

– Digestion problems

– Chronic Diarrhea

– Poor growth and weight loss

3 decades on Average 1 in 29

Familial Dysautonomia (FD) disease is characterized by the lack of development of specialized nerves that allow the body to control digestion, body temperature, and sensory functions such as heat, cold, and pain perception. Hence, children with damaged autonomic and sensory nervous systems manifest a large number of symptoms.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Muscle tone (hypotonia)

– Feeding difficulties

– Poor growth

– Frequent lung infections

– Uncontrolled body temperature

– Delayed motor development

– Absence of tears

– Poor coordination

– Poor swallowing

Approximately 4 decades on average. 1 in 30

Fanconi Anemia (FA) is an inherited genetic disorder characterized by non-functional bone marrow. Individuals with FA experience low blood cells counts leading to anemia and reduce immunity. Other characteristics include defects in kidney, heart, and gastrointestinal tract. The abnormal function of
the bone marrow can trigger myeloid leukemia (AML), a type of blood cancer. Other cancers may also occur in affected organs.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Anemia

– Bone marrow failure

– Congenital anomalies infertility

– Organ defect (kidney, heart)

– Myeloid leukemia (AML)

– Predisposition to other cancers

Very few patients with Fanconi syndrome survive past the age of 30 1 in 89

Common among the Roma population of Spain, and black South Africans

Fragile X syndrome is a genetic condition that impact learning abilities and cognitive behavior. X syndrome is due to a dominant mutation linked to X chromosome, hence, has effect even if only one copy of the gene coming from either parent is mutated. Because fragile X mutation is found in chromosome X, males usually show more severe symptoms than females.

Fragile X affects a broad spectrum of developmental aspects, including, developmental delays, speech learning, and some forms of Autism spectrum disorder. Fragile X syndrome is the most common cause of intellectual disability in males. Some of the symptoms appear at birth, but others develop during or after adolescence.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
-Speech delay

-language learning difficulty

-Hyperactive behavior

-Developmental delays

-Some forms of Autism


-Attention deficit disorder

Similar to the general population 1 in 4,000 males and 1 in 8,000 females.

Gaucher disease is divided into 2 categories. Type I, known as non-neuronopathic, is a milder form of Gaucher Disease, with intact central nervous system (brain and spinal cord). Patients within this class present signs of anemia, organ enlargement (liver and spleen), and fragile bones. Individual affected by Type II and Type III Gaucher disease (neuronopathic) are known to have severe symptoms, such as seizures and brain damage, due to damaged central nervous system.

Symptoms                   Life expectancy                      Carrier Frequency (Ashkenazi Jewish)

– Bone fractures- Arthritis- Anemia- Liver enlargement- Spleen enlargement Very good life expectancy for type I with treatment, but the infantile disease rarely exceeds the 5th year of life.

Respiratory Failure

1 in 14

The human body utilizes glucose as a source of energy to manage a number of cellular processes. An excess of glucose is normally packed into larger molecules (glycogen) and stored in the liver and muscles, when the body needs a bust of energy, glycogen can be broken down into glucose, and utilized as a source of energy. Sometimes, defect in key enzymes that query out the conversion of glycogen to glucose leads to abnormal accumulation of Glycogen, known as Glycogen Storage Disease (GSD type I).

Signs of GSD type I appear in the first few months of the infant life. It is typically associated with low blood sugar, and accumulation of acid lactic in the body. In the long term, GSD type I, may cause enlargement of liver, arthritis, high blood pressure, and kidney disease.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Low blood sugar (Hypoglycemia)

– Seizures

– Liver enlargement

– Hepatomegaly

– Kidney Failure

– Developmental delays

Very good life expectancy and is similar to the general population 1 in 71

Hemophilia B is an inherited disease caused by a modification of a protein responsible for blood coagulation. Children with Hemophilia B experience excessive bleeding after a minor physical injury, or a surgical procedure. Excessive bleeding in the brain and internal organs can develop into serious health condition.

Hemophilia B is due to a recessive mutation found in chromosome X, thus commonly found among male. Female carriers of 1 copy of Hemophilia B mutation have normal blood coagulation.

Symptoms Life expectancy
– Hemorrhage

– Internal Bleeding

– Development of bruises from mild injuries

Very good life expectancy and is similar to the general population with early detection and proper treatment and counseling

Hyperinsulinemic hypoglycemia is refereed to high insulin content in the body. The insulin is an essential hormone that regulates the levels of sugar in the blood. Low levels of insulin cause diabetes, while high levels of insulin cause hypoglycemia (low blood sugar).

Hyperinsulinemic hypoglycemia is associated with lack of energy, and feeding difficulties. Serious cases of hypoglycemia can cause intellectual disability, seizures and coma.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Hypoglycemia (low blood sugar)

– Feeding problems

– Irritability

– Seizures

– Mental retardation

– Coma

Similar to the general population when the disease is diagnosed and treated early. 1 in 52

Joubert Syndrome is a recessive genetic disorder caused by abnormal development of cerebellar vermis, a specific part of the brain responsible for movement coordination.

There are several types of Joubert Syndrome and 10 genes responsible for the diseases. Joubert Syndrome 2 is the most common syndrome among Ashkenazi Jewish group. Children with Joubert disease suffer from weak muscle tone, lack of coordination, abnormal eye movement, and skeletal abnormality.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Altered coordination of voluntary movements

– Mental Retardation

– Extra fingers ( Polydactyl)

– Breathing problem

– Retinal dystrophy and vision loss

– Abnormal eye movement

Similar to the generalpopulation for mild form.

Sever form leads to Organ and respiratory failure

1 in 92

Maple syrup urine disease is caused by genetic alteration in genes responsible for processing 3 amino acids, resulting in body accumulation of amino acids to toxic level. The name of the disease is due to the sweet urine odor of children afflicted with the disease. Maple syrup urine disease is associated with poor feeding, vomiting, and body weakness. The disease comes in different forms, but the classic type is the most common.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Sweet urine odor

– Poor feeding

– Vomiting

– Mental retardation

– Seizures

Similar to the general population if the disease is diagnosed and treated early. 1 in 81

Nemaline Myopathy is characterized by muscle weakness, including muscles dedicated to movement, and muscles found in face, neck, and limbs.

The disease is inherited in recessive pattern, caused by mutations that disrupt normal muscle contraction. The mutations can occur in at least 6 genes, leading to 6 types of Nemaline Myopathy. These several types differ in time of occurrence and intensity, among which, the typical congenital type is the most common.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Feeding difficulties

– Muscle Weakness

– Abnormal spine curvature

– Joint deformity

Mild forms don’t affect life expectancy if diagnosed and treated early.

Severe cases rarely go beyond first year of life.

1 in 108

Niemann-Pick disease type A is associated with the abnormal accumulation of fat and cholesterol in different organs of the body, leading to enlargement of the liver, lung, and progressive damage of the brain.

This inherited disease is due to defect of sphingomyelinase, an essential enzyme responsible for lipid metabolism. Niemann-Pick disease type A is common in infants of Ashkenazi Jewish background.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Hepatomegaly (Enlargement of the liver)

– Splenomegaly (Enlargement of the spleen)

– Failure to thrive

– Neurological delay and deterioration

– Feeding problems

Average of 2 to 3 decades of life span 1 in 90

Sickle cell anemia is an inherited disease that affects children in early childhood. The disease is characterized by the presence of abnormal red blood cells (sickle shape). Sickle cell anemia is caused by genetic mutations that turn normal hemoglobin into a hemoglobin S, leading to high degradation rate of red blood cells.

Besides the obvious consequences of sickle cell anemia such as Anemia, fatigue, and growth delay; Sickle cell can block small vessels in certain organs (spleen , kidney, lung) causing organ damage.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Anemia

– Fatigue

– High blood pressure, stroke

– Kidney Failure

Good life expectancy with early detection, reaching the 5th decade of life. Most common among Mediterranean countries and Arabian Peninsula

Spinal muscular atrophy (SMA) is an autosomal recessive genetic condition that impacts muscle movement. SMA is caused by the loss of motor neurons present in the spinal cord. There are at least 4 classes of SMA that differ in severity and time of occurrence. Type I is the most severe form occurring at birth. It is characterized by developmental delay, lack of head support, breading and swallowing problems.
Type II, and Type II are less severe form of DSMA, Type II occurs in the first year of birth, while Type II can occur any time from 2 to 17 years of age.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
Varies by type of DSMA, symptoms include:

– Symmetricalmuscle weakness and wasting

– Swallowing difficulties

– Breathing problems

– Spinal curvature

– Risk progressive disability

Depends on type of SMA, it can be very short (type I), or average (type IV). 1 in 41

Spinal muscular atrophy is caused by a loss of spinal cord and brain neurons specialized in muscle movement. There are several classes of SMA that differ in intensity and age occurrence. SMA may appear at birth (type I), or at later age (type IV). Severe forms of SMA exhibit muscle weakness, difficulty sitting up and supporting head, breading and swallowing problems. Spinal muscular atrophy can be inherited in autosomal recessive (type I, II, III, and IV), or dominant manner (SMA-LED), or linked to chromosome X.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Muscle Weakness

– Muscle atrophy

– Breathing issues

– Swallowing problems

Mild forms are associated with good life expectancy. But severe forms lead to death in the first or second year of life. 1 in 41

Tay-Sachs disease is an autosomal recessive genetic disease that affects infants in their first year of birth. The disease is characterized by degeneration of nerve cells in the brain and spinal cord, leading to loss of motor skills.

Infants suffering from Tay-Sachs disease have difficulty performing basic activities such as setting and crawling. Other symptoms such as intellectual disability, hearing and vision loss, appear in advanced stage of Tay-Sachs disease.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Difficulty setting and crawling

– Seizures

– Intellectual disability

– Progressive muscle weakness

– Hearing loss

– Vision loss

Infants with Tay-Sachs disease rarely live beyond the first or second year of life. 1 in 25-30 Ashkenazi

1 in 73 French Canadian

1 in 250 non-Jewish

Thalassemia is a genetic disorder that affects the integrity of red blood cells. Individual who suffered from Thalassemia are low in hemoglobin, a protein responsible for transporting oxygen throughout the body.

The underlining cause Thalassemia is a defect in a globulin protein, an essential component of hemoglobin. Alpha Thalassemia is caused by defect in Alpha globulin, and Beta Thalassemia is caused by defect in Beta globulin. Carriers of Thalassemia mutated gene present no symptoms (recessive) but may transfer the mutation to the offspring.

Symptoms Life expectancy
– Anemia and pale skin

– General body weakness

– Frequent fever

– Slow growth, delayed puberty

– Problems with the spleen, liver, heart, or bones

-Approx. 3 decades for beta Thalassemia patients

-Normal life spam for other types

Usher syndrome is caused by several gene mutations. Children inflicted with the disease manifest hearing and vision loss. The disease affects the inner ear and the retina causing deafness and blindness. Usher syndrome type I is detected at birth, while type III develop in the first few decades of life.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Deafness

– Blindness

– Balance problems

Similar to the general population Type 1F: 1 in 141

Type III: 1 in 107

Walker-Warburg Syndrome (WWS) is a severe form of congenital muscular dystrophy. Infant with WWS don’t live beyond 3 years. This inherited disorder impacts weak muscle tone limiting the infant abilities to move. Additional characteristics of WWS are brain structure abnormality such as cobblestone lissencephaly, causing development and intellectual disability.

Symptoms Life expectancy Carrier Frequency (Ashkenazi Jewish)
– Eye abnormalities

– Muscle wasting

– Seizure

– Developmental delay

Afflicted infants rarely reach the 3rd year of life 1 in 149