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Results 81 - 90 of 1,504 for condition
  1. SCN9A gene 
    ... cause channelopathy-associated congenital insensitivity to pain, a condition that inhibits the ability to perceive physical pain. ... sense of smell (anosmia). More About This Health Condition Multiple variants in the SCN9A gene have been ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics
  2. MTHFR gene 
    ... process homocysteine and methionine properly. People with this condition often develop eye problems, abnormal blood clotting, skeletal ... in people with homocystinuria. More About This Health Condition MedlinePlus Genetics provides information about Age-related hearing ...
    https://medlineplus.gov/genetics/gene/mthfr - Genetics
  3. APP gene 
    ... APP gene can cause early-onset Alzheimer's disease, which begins before age 65. These variants are ... of all early-onset cases of Alzheimer's disease.The most common APP gene variant changes one ...
    https://medlineplus.gov/genetics/gene/app - Genetics
  4. PTEN gene 
    ... Bannayan-Riley-Ruvalcaba syndrome. Common features of this condition include a large head size (macrocephaly), multiple noncancerous ... Riley-Ruvalcaba syndrome is one of several related conditions that are often considered together as PTEN hamartoma ...
    https://medlineplus.gov/genetics/gene/pten - Genetics
  5. CFTR gene 
    ... use assisted reproductive technologies. More About This Health Condition More than 1,000 mutations in the CFTR ... reaches the cell membrane to transport chloride ions.Disease-causing mutations in the CFTR gene alter the ...
    https://medlineplus.gov/genetics/gene/cftr - Genetics
  6. ACTA1 gene 
    ... of actin-accumulation myopathy. More About This Health Condition At least one ACTA1 gene variant has been ... symptoms of cap myopathy. More About This Health Condition At least seven variants in the ACTA1 gene ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  7. TNFRSF11B gene 
    ... may increase the risk of developing classic Paget disease of bone, particularly in women. These genetic changes ... is unclear how polymorphisms in this gene influence disease risk. More About This Health Condition At least ...
    https://medlineplus.gov/genetics/gene/tnfrsf11b - Genetics
  8. SLC19A3 gene 
    ... in people with biotin-thiamine-responsive basal ganglia disease, a disorder that involves recurrent episodes of brain ... thiamine transporter is unknown. More About This Health Condition MedlinePlus Genetics provides information about Leigh syndrome More ...
    https://medlineplus.gov/genetics/gene/slc19a3 - Genetics
  9. SLC17A5 gene 
    ... acid storage disorder (FSASD). FSASD is an inherited condition that primarily affects the brain and spinal cord (central nervous system). This condition is often divided into three forms based on ...
    https://medlineplus.gov/genetics/gene/slc17a5 - Genetics
  10. VWF gene 
    ... gene have been found to cause von Willebrand disease. Mutations in the VWF gene that reduce the ... von Willebrand factor cause type 1 von Willebrand disease. People with type 1 von Willebrand disease have ...
    https://medlineplus.gov/genetics/gene/vwf - Genetics
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