Search Results

Viewing: All

  • Adult polyglucosan body disease is a condition that affects the nervous system. People with this
  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a
  • body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the
  • Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell
  • Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored
  • Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes
  • Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body
  • later. In addition, some adults who had Caffey disease in infancy have other abnormalities of the bones
  • results in the signs and symptoms of Cushing disease: changes to the amount and distribution of body fat
  • Kufs disease is a condition that primarily affects the nervous system, causing problems with
  • Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body
  • Ménière disease is a disorder of the inner ear that affects balance and hearing. This condition is
  • Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects
  • molecules called polyglucosan bodies accumulate in cells, leading to damage and cell death. Polyglucosan
  • Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects
  • about one-third of adults with sickle cell disease and can lead to heart failure.
  • At least three mutations in the GBE1 gene have been found to cause adult polyglucosan body disease
  • Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder
  • Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that
  • one side of the body than on the other. Affected individuals may also have difficulty swallowing
  • age 40. As the disease progresses, most people with CARASIL also develop mood and personality changes
  • Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder
  • problems, and loss of thinking ability (cognition).Adult-onset Huntington disease, the most common form
  • Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders
  • Hartnup disease is a condition caused by the body's inability to absorb certain protein building
  • body's inability to use lipids properly result in the signs and symptoms of Wolman disease.
  • typically occurs on both sides of the body and may worsen over time. Milroy disease is associated with
  • of Parkinson disease, protein deposits called Lewy bodies appear in dead or dying dopamine-producing
  • wide variety of signs and symptoms involving many parts of the body. Celiac disease can develop at any
  • Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped
  • symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of
  • Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young
  • Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually
  • Tangier disease is an inherited disorder characterized by significantly reduced levels of high
  • Behçet disease is an inflammatory condition that affects many parts of the body. The health
  • Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes
  • body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.
  • the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid
  • disease. Because the OCRL gene is active (expressed) throughout the body, it is unclear why Dent disease
  • Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal
  • Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign
  • Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or
  • Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The
  • Schindler disease is an inherited disorder that primarily causes neurological problems. There are
  • Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual
  • Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles
  • sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the
  • young adults, sensorineural hearing loss usually occurs first, followed by signs of pontobulbar palsy
  • Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver

Viewing: Health Conditions

  • Adult polyglucosan body disease is a condition that affects the nervous system. People with this
  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a
  • body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the
  • Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell
  • Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored
  • Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes
  • Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body
  • later. In addition, some adults who had Caffey disease in infancy have other abnormalities of the bones
  • results in the signs and symptoms of Cushing disease: changes to the amount and distribution of body fat
  • Kufs disease is a condition that primarily affects the nervous system, causing problems with
  • Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body
  • Ménière disease is a disorder of the inner ear that affects balance and hearing. This condition is
  • Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects
  • molecules called polyglucosan bodies accumulate in cells, leading to damage and cell death. Polyglucosan
  • Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects
  • about one-third of adults with sickle cell disease and can lead to heart failure.
  • Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder
  • Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that
  • one side of the body than on the other. Affected individuals may also have difficulty swallowing
  • age 40. As the disease progresses, most people with CARASIL also develop mood and personality changes
  • Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder
  • problems, and loss of thinking ability (cognition).Adult-onset Huntington disease, the most common form
  • Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders
  • Hartnup disease is a condition caused by the body's inability to absorb certain protein building
  • body's inability to use lipids properly result in the signs and symptoms of Wolman disease.
  • typically occurs on both sides of the body and may worsen over time. Milroy disease is associated with
  • of Parkinson disease, protein deposits called Lewy bodies appear in dead or dying dopamine-producing
  • wide variety of signs and symptoms involving many parts of the body. Celiac disease can develop at any
  • Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped
  • symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of
  • Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young
  • Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually
  • Tangier disease is an inherited disorder characterized by significantly reduced levels of high
  • Behçet disease is an inflammatory condition that affects many parts of the body. The health
  • Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes
  • body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.
  • the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid
  • disease. Because the OCRL gene is active (expressed) throughout the body, it is unclear why Dent disease
  • Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal
  • Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign
  • Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or
  • Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The
  • Schindler disease is an inherited disorder that primarily causes neurological problems. There are
  • Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual
  • Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles
  • sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the
  • young adults, sensorineural hearing loss usually occurs first, followed by signs of pontobulbar palsy
  • Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver

Viewing: Genes

  • At least three mutations in the GBE1 gene have been found to cause adult polyglucosan body disease