2008-05-21T13:25:33+00:00

Galactosemia is a rare genetic metabolic disorder characterized by the inability to properly metabolize the sugar galactose.

676 Galactosemia

galactosemia

6.6

http://www.orpha.net

Per 100,000 Population

Galactosemia Type 1, Galactosemia Type 2, Galactosemia Type 3

2009-02-24T14:34:35+00:00

2008-05-21T13:25:33+00:00

Gallbladder Cancer is a rare form of cancer.

679 Gallbladder Cancer

gallbladder-cancer

6.5

http://www.orpha.net

Per 100,000 Population

Porcelain Gallbladder; Carcinoma of the Gallbladder

2008-12-24T17:15:17+00:00

2008-05-21T13:25:34+00:00

818 Gamma-Sarcoglycanopathy

gamma-sarcoglycanopathy

1.96

http://www.orpha.net

Per 100,000 Population

Limb-girdle muscular dystrophy type 2C, Gamma Sarcoglycanopathy

2009-08-04T14:22:20+00:00

2009-02-17T22:06:11+00:00

Gardner’s Syndrome is a rare genetic disorder characterized by multiple polyps and tumors in and around the colon.

1337 Gardner's Syndrome

gardner-s-syndrome

Per 100,000 Population

Gardners Syndrome

2009-02-17T22:06:11+00:00

2008-05-21T13:25:34+00:00

819 Gastrointestinal Stromal Tumor

gastrointestinal-stromal-tumor

1.8

http://www.orpha.net

Per 100,000 Population

Gastrointestinal Stromal Tumour

2009-02-26T18:51:35+00:00

2008-05-21T13:25:32+00:00

Gastroschisis is a type of abdominal wall defect in which the intestines develop outside the fetal abdomen.

611 Gastroschisis

gastroschisis

12.0

http://www.orpha.net

Per 100,000 Population

paraomphalocele, laparoschisis, abdominoschisis, abdominal hernia

2009-06-11T21:39:10+00:00

2008-05-21T13:25:34+00:00

Gaucher Disease is a rare lysosomal storage disease characterized by the accumulation of glucocerebroside in the spleen, liver, kidneys, lungs, brain and bone marrow.

There are several symptoms that affect patients with Gaucher Disease.

871 Gaucher Disease

gaucher-disease

1.0

http://www.orpha.net

Per 100,000 Population

Cerebroside Lipidosis Syndrome, Gaucher Splenomegaly, Glucocerebrosidase Deficiency, Glucocerebrosidosis, Glucosyl Cerebroside Lipidosis, Glucosylceramidase Deficiency, Kerasin Lipoidosis, Kerasin Thesaurismosis, Lipid Histiocytosis (Kerasin Type), Sphingolipidosis 1, Norrbottnian Gaucher Disease, Type I Gaucher Disease, Type II Gaucher Disease, Type III Gaucher Disease, Subset of Lysosomal Storage Disease

2010-02-09T22:51:11+00:00

2010-01-27T23:07:19+00:00

Geographic tongue is a disorder of the tongue characterized by painful, discolored regions of taste buds.

1462 Geographic Tongue

geographic-tongue

Per 100,000 Population

Benign Migratory Glossitis, Benign Migratory Stomatitis, Glossitis Areata Exfoliativa, Glossitis Areata Migrans, Lingua Geographica, Stomatitis Areata Migrans, Transitory Benign Plaques of the Tongue

2010-01-27T23:07:19+00:00

Mutations in the GAN gene cause giant axonal neuropathy. Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Some GAN mutations change the shape of the protein, affecting how it binds to other proteins to form a functional complex. Other mutations prevent cells from producing any gigaxonin protein. Gigaxonin is involved in a cellular function that destroys and gets rid of excess or damaged proteins using a mechanism called the ubiquitin-proteasome system. Neurons without functional gigaxonin accumulate excess neurofilaments in the axon, causing the axons to become distended. These giant axons do not transmit signals properly and eventually deteriorate, resulting in problems with movement and other nervous system dysfunction.

2008-08-05T21:15:58+00:00

Giant axonal neuropathy is a rare neurological disorder involving the dysfunction of a specific type of protein in nerve cells which is essential for normal nerve function because it forms neurofilaments that help to define the shape and size of the neurons. The diagnosis of GAN is established by clinical findings including nerve conduction velocity (NCV), brain MRI, and peripheral nerve biopsy. The pathologic hallmark is so-called giant axons caused by the accumulation of neurofilaments. GAN is caused by mutations in the gene GAN, encoding the protein gigaxonin. GAN is the only gene currently known to be associated with GAN; however, evidence exists for genetic heterogeneity. Molecular genetic testing of the GAN gene is available on a research basis only.

Giant axonal neuropathy is a rare neurological disorder. Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This condition is characterized by abnormally large and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses. Giant axonal neuropathy generally appears in infancy or early childhood. It progresses slowly as neuronal injury becomes more severe. Signs of giant axonal neuropathy usually begin in the peripheral nervous system, which governs movement and sensation in the arms, legs, and other parts of the body. Most individuals with this disorder first have problems with walking. Later they may lose sensation, coordination, strength, and reflexes in their limbs. Hearing and visual problems may also occur. Extremely kinky hair (as compared to others in the family) is characteristic of giant axonal neuropathy, occurring in almost all affected people. As the disorder progresses, the brain and spinal cord (central nervous system) may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures.

Signs of giant axonal neuropathy usually begin in the peripheral nervous system, which governs movement and sensation in the arms, legs, and other parts of the body. Most individuals with this disorder first have problems with walking. Giant axonal neuropathy (GAN) is characterized by the following: Severe early-onset peripheral motor and sensory neuropathy Tightly curled lackluster hair that differs markedly from that of the parents Central nervous system involvement including mental retardation, cerebellar signs (ataxia, nystagmus, dysarthria), and pyramidal tract signs

Nerve conduction studies often show normal to moderately reduced nerve conduction velocity (NCV) but severely reduced compound motor action potentials and absent sensory nerve action potentials. Auditory brain stem evoked responses, visual evoked responses, and somatosensory evoked responses are often abnormal. EEG often shows increased slow wave activity. MRI of the brain often demonstrates white matter abnormalities in the form of high signals on T2 sequences in the anterior and posterior periventricular regions as well as the cerebellar white matter [Demir et al 2005].

Treatment of manifestations: A team including (pediatric) neurologists, orthopedic surgeons, physiotherapists, psychologists, and speech and occupational therapists is recommended; goals are to optimize intellectual and physical development through speech therapy to improve communication, occupational therapy to maximize independence in activities of daily living, physiotherapy to preserve mobility as long as possible, and early intervention and special education; orthopedic surgery as needed for foot deformities; ophthalmologic treatment as needed for diplopia. Prevention of secondary complications: for wheelchair-bound or bedridden individuals, prophylaxis and frequent examination for decubitus ulcers. Surveillance: at least yearly reassessment of intellectual abilities, peripheral neuropathy, ataxia, spasticity, and cranial nerve dysfunction.

1192 Giant Axonal Neuropathy

giant-axonal-neuropathy

0.0

Per 100,000 Population

GAN

2008-09-10T15:01:38+00:00

Unknown

2008-05-21T13:25:33+00:00

Giant Cell Arteritis is an inflammatory disease of the blood vessels. Narrowing of the major arteries to closure, typically at the temples but may also be along the upper aorta to the arms. Other arteries should be checked.

Giant Cell Arteritis is an inflammatory disease of the blood vessels. – major arteries …. e,g, aorta

Headache Numbness in arms/hands Failing eye sight

MRI/A- invasive – potential dangers – dye Arteriogram- invasive – potential dangers from dye SED – not reliable C-reactive protein – not reliable

Steriod – prednisone Methotrexate

645 Giant Cell Arteritis

giant-cell-arteritis

8.9

http://www.orpha.net

Per 100,000 Population

May be placed in remission over time but can not be curried/corrected. Must be followed for rest of life.

Headaches, numbness, failing eye sight. Temporal Arteritis, GCA

2010-03-04T23:35:19+00:00

2009-02-19T14:27:27+00:00

Gitelman Syndrome is a rare genetic disorder causing the kidneys to pass too much sodium, magnesium, chloride, and potassium into the urine.

1352 Gitelman Syndrome

gitelman-syndrome

Per 100,000 Population

Gitelman's Syndrome, Gitelmans Syndrome

2010-01-17T13:50:23+00:00

2008-05-21T13:25:32+00:00

Glioblastoma Multiforme is the most common and most aggressive type of primary brain tumor.

There are several symptoms that affect patients with Glioblastoma Multiforme.

Treatments include chemotherapy, radiotherapy, and surgery.

617 Glioblastoma Multiforme

glioblastoma-multiforme

11.0

http://www.orpha.net

Per 100,000 Population

GBM, Primary GBM, Secondary GBM

2008-12-28T16:59:34+00:00

2009-05-18T13:48:49+00:00

Gliomatosis Cerebri is a rare form of brain tumor.

1387 Gliomatosis Cerebri

gliomatosis-cerebri

Per 100,000 Population

Infiltrative Diffuse Astrocytosis

2009-05-18T13:48:49+00:00

2008-12-16T20:59:17+00:00

Glucose-6-Phosphate Dehydrogenase Deficiency is a hereditary disease characterised by abnormally low levels of glucose-6-phosphate dehydrogenase.

1274 Glucose-6-Phosphate Dehydrogenase Deficiency

glucose-6-phosphate-dehydrogenase-deficiency

Per 100,000 Population

Glucose 6 Phosphate Dehydrogenase Deficiency, Favism

2008-12-16T20:59:17+00:00

2008-05-26T00:27:24+00:00

Glucose Galactose Malabsorption Deficiency is a genetic disorder where the small intestine is unable to absorb and transport glucose and galactose in food.

1092 Glucose Galactose Malabsorption Deficiency

glucose-galactose-malabsorption-deficiency

Per 100,000 Population

2008-11-04T14:59:34+00:00