Condition Lookup
Sub-Category:
Autosomal Recessive Disorders
Number of Conditions: 6
Cystic fibrosis (CFTR gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
persistent coughing with phlegm; frequent lung infections; shortness of breath; salty-tasting skin; poor growth or weight gain; greasy, bulky stools; male infertility
Root Cause:
Mutations in the CFTR gene lead to defective or absent CFTR protein, resulting in thick, sticky mucus in the lungs, pancreas, and other organs.
How it's Diagnosed: videos
Sweat chloride test, genetic testing for CFTR mutations, newborn screening, pulmonary function tests, and imaging (e.g., chest X-ray).
Treatment:
Airway clearance techniques, physical therapy, nutritional support, lung transplant in severe cases.
Medications:
CFTR modulators (e.g., ivacaftor , lumacaftor /ivacaftor ), bronchodilators, mucolytics (e.g., dornase alfa), antibiotics for lung infections (e.g., tobramycin , azithromycin ), pancreatic enzyme replacement therapy.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 70,000 individuals worldwide; most common in people of Northern European descent.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, being of Northern European ancestry.
Prognosis:
The expected outcome or course of the condition over time.
Life expectancy has improved significantly with advancements in treatment; median survival is around 40–50 years.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic respiratory failure, diabetes, osteoporosis, infertility, liver disease.
Sickle cell disease (HBB gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
anemia; pain episodes (sickle cell crises); swelling in hands and feet; frequent infections; delayed growth; vision problems
Root Cause:
Mutations in the HBB gene cause abnormal hemoglobin (HbS), leading to red blood cells becoming sickle-shaped and prone to clumping.
How it's Diagnosed: videos
Hemoglobin electrophoresis, genetic testing for HBB mutations, newborn screening.
Treatment:
Blood transfusions, bone marrow transplant, pain management, and prevention of infections.
Medications:
Hydroxyurea (stimulates fetal hemoglobin production), L-glutamine (reduces oxidative stress), crizanlizumab (reduces pain crises), voxelotor (improves hemoglobin levels).
Prevalence:
How common the health condition is within a specific population.
Approximately 300,000 births annually worldwide; more common in individuals of African, Mediterranean, Middle Eastern, and Indian ancestry.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, being of African or Mediterranean descent.
Prognosis:
The expected outcome or course of the condition over time.
Variable; with proper treatment, many patients live into their 40s or 50s, though complications may arise.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Stroke, organ damage, acute chest syndrome, infections, leg ulcers.
Tay-Sachs disease (HEXA gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
loss of motor skills; muscle weakness; seizures; exaggerated startle response; vision and hearing loss; cherry-red spot on the retina
Root Cause:
Mutations in the HEXA gene lead to a deficiency of beta-hexosaminidase A, causing accumulation of GM2 gangliosides in nerve cells.
How it's Diagnosed: videos
Enzyme activity assay for beta-hexosaminidase A, genetic testing for HEXA mutations, prenatal testing for carriers.
Treatment:
Currently no cure; supportive care includes managing symptoms, physical therapy, and nutritional support.
Medications:
No specific medications; anticonvulsants for seizures, supportive therapies.
Prevalence:
How common the health condition is within a specific population.
Most common in Ashkenazi Jewish populations, with a carrier frequency of 1 in 30.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Ashkenazi Jewish, French-Canadian, or Cajun ancestry; family history of Tay-Sachs.
Prognosis:
The expected outcome or course of the condition over time.
Poor; infantile form leads to death by age 4–5.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Progressive neurological decline, respiratory infections, feeding difficulties.
Phenylketonuria (PAH gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
intellectual disability; seizures; musty odor in breath, skin, or urine; behavioral problems; eczema; delayed developmental milestones
Root Cause:
Mutations in the PAH gene result in deficient phenylalanine hydroxylase, leading to the accumulation of phenylalanine in the blood and toxic effects on the brain.
How it's Diagnosed: videos
Newborn screening via blood test (measuring phenylalanine levels), genetic testing for PAH mutations.
Treatment:
Lifelong low-phenylalanine diet, special medical formulas, and newer enzyme substitution therapies.
Medications:
Sapropterin dihydrochloride (BH4 cofactor to reduce phenylalanine levels), pegvaliase (enzyme replacement therapy).
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 10,000 to 1 in 15,000 live births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history; higher prevalence in European and Asian populations.
Prognosis:
The expected outcome or course of the condition over time.
Good with early and lifelong treatment; untreated cases result in severe intellectual disability and neurological damage.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe intellectual disability, seizures, behavioral problems, psychiatric disorders.
Wilson disease (ATP7B gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
jaundice; abdominal pain; swelling in legs and abdomen; neurological symptoms like tremors or poor coordination; psychiatric symptoms; kayser-fleischer rings in the eyes
Root Cause:
Mutations in the ATP7B gene impair copper transport, leading to copper accumulation in the liver, brain, and other tissues.
How it's Diagnosed: videos
Serum ceruloplasmin levels, 24-hour urine copper test, liver biopsy, genetic testing for ATP7B mutations, slit-lamp exam for Kayser-Fleischer rings.
Treatment:
Copper-chelating agents, dietary modifications to reduce copper intake, and liver transplantation in severe cases.
Medications:
Penicillamine (chelates copper), trientine (alternative chelating agent), zinc acetate (reduces copper absorption).
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 30,000 to 1 in 40,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history; no specific demographic predisposition.
Prognosis:
The expected outcome or course of the condition over time.
Good with early treatment; untreated cases result in severe liver and neurological damage.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Liver failure, neurological impairment, psychiatric disorders.
Alpha-1 antitrypsin deficiency (SERPINA1 gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
shortness of breath; chronic cough; wheezing; recurrent respiratory infections; jaundice; liver disease
Root Cause:
Mutations in the SERPINA1 gene lead to low or dysfunctional alpha-1 antitrypsin protein, causing lung damage from uninhibited neutrophil elastase and liver damage due to protein accumulation.
How it's Diagnosed: videos
Blood test measuring alpha-1 antitrypsin levels, genetic testing for SERPINA1 mutations, imaging for lung damage (e.g., CT scan), liver function tests.
Treatment:
Lifestyle changes (e.g., avoiding smoking), augmentation therapy with alpha-1 antitrypsin, and, in severe cases, lung or liver transplantation.
Medications:
Alpha-1 antitrypsin protein (augmentation therapy), bronchodilators, corticosteroids for lung inflammation.
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 2,500 to 1 in 5,000 individuals of European descent.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history; higher prevalence in Northern European populations.
Prognosis:
The expected outcome or course of the condition over time.
Variable; better with early diagnosis and lifestyle modifications. Without treatment, may lead to early-onset COPD or liver disease.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Early-onset emphysema, liver cirrhosis, hepatocellular carcinoma.