Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 4 is caused by a genetic defect which involves the gene for a particular enzyme (dolichyl-P-mannose:Man-5-GlcNAc-2-PP-dolichyl-mannosyltransferase).
A mutation in the CDK4 gene can cause an increased susceptibility to melanomas.
CDKL5 disorder is a rare neurodevelopmental condition that is characterized by early onset epilepsy (seizures), low muscle tone, and developmental challenges.
A very rare syndrome characterized mainly by eye, tooth and hair abnormalities.
Celiac disease is a digestive disease that damages the small intestine and interferes with absorption of nutrients from food. People who have celiac disease cannot tolerate gluten, a protein in wheat, rye, and barley. Gluten is found mainly in foods but may also be found in everyday products such as medicines, vitamins, and lip balms.
When people with celiac disease eat foods or use products containing gluten, their immune system responds by damaging or destroying villi – the tiny, fingerlike protrusions lining the small intestine. Villi normally allow nutrients from food to be absorbed through the walls of the small intestine into the bloodstream. Without healthy villi, a person becomes malnourished, no matter how much food one eats.
Celiac disease is both a disease of malabsorption – meaning nutrients are not absorbed properly – and an abnormal immune reaction to gluten. Celiac disease is also known as celiac sprue, nontropical sprue, and gluten-sensitive enteropathy. Celiac disease is genetic, meaning it runs in families. Sometimes the disease is triggered – for becomes active for the first time – after surgery, pregnancy, childbirth, viral infection, or severe emotional stress.
How common is celiac disease?
Celiac disease affects people in all parts of the world. Originally thought to be a rare childhood syndrome, celiac disease is now known to be a common genetic disorder. More than 2 million people in the United States have the disease, or about 1 in 133 people. Among people who have a first-degree relative – a parent, sibling, or child – diagnosed with celiac disease, as many as 1 in 22 people may have the disease.
Celiac disease is also more common among people with other genetic disorders including Down syndrome and Turner syndrome, a condition that affects girls' development.
Source: National Digestive Diseases Information Clearinghouse (NDDIC)
A rare syndrome characterized by celiac disease and epilepsy with brain calcifications.
A rare syndrome characterized by small eyes, congenital cataracts and hydrocephalus (buildup of fluid in the brain).
Central core disease (CCD) is an autosomal dominant congenital myopathy (inborn muscle disorder)
A rare eye disorder where fluid collects under the retina which affects vision. The condition usually resolves itself within 6 months though most people suffering lingering vision disturbances such as distortion, reduced sensitivity to contrast, impaired night vision and reduced color vision.
Ceramide trihexosidosis is also known as Fabry's disease, and is a condition wherein an enzyme deficiency causes a fat storage disorder. This is because the enzyme deficiency affects the lipid biodegradation functions of the body.
Swimmer's itch, also called cercarial dermatitis, appears as a skin rash caused by an allergic reaction to certain parasites that infect some birds and mammals. These microscopic parasites are released from infected snails into fresh and salt water (such as lakes, ponds, and oceans). While the parasite's preferred host is the specific bird or mammal, if the parasite comes into contact with a swimmer, it burrows into the skin causing an allergic reaction and rash. Swimmer's itch is found throughout the world and is more frequent during summer months.
A rare disorder characterized by an absent or underdeveloped portion of brain called the cerebellum which controls muscle and balance. Partial absence may cause little or no symptoms but complete absence results in movement and muscle problems
A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia.
A rare syndrome characterized by balance and coordination problems and teeth and hair abnormalities.
A rare disorder characterized by cerebellar ataxia during infancy and progressive paralysis of eye muscles.
A rare syndrome characterized mainly by ataxia, absent reflexes, high foot arch (pes cavus), progressive optic nerve degeneration and hearing impairment. The ataxic symptoms tended to occur early in life after an illness involving fevers. The ataxia then tends to come and go but then persists into adulthood.
A dominantly inherited form of ataxia that involves only the cerebellar system.
Degeneration of nerves in the part of the brain called the cerebellum which controls balance and muscle coordination.
A rare disorder involving degeneration of the cerebellum and sometimes involves nearby spinal cord or brain tissue.
Cerebellar hypoplasia is a rare embryonic developmental disorder in which the cerebellum is either missing entirely or is smaller than usual. It may be genetic or occur sporadically. Cerebellar hypoplasia may be caused by thyroid abnormalities, environmental influences such as drugs and chemicals or viral infections or stroke. Cerebellar hypoplasia may be associated with other disorders including Dandy-Walker syndrome, Joubert Syndrome, spinal muscular atrophy and Walker-Warburg syndrome and CASK Gene Mutation. This disorder has also been known to be a symptom of Retinoic Acid Embryopathy/Accutane Syndrome, and Meckel syndrome.
A rare disorder character where a part of the brain (cerebellum) is underdeveloped and a nonprogressive eye disorder involving the retinal pigments. The cerebellum is the part of the brain that controls balance and movement.
A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
Progressive deterioration of the superficial layer of the cerebellum in the brain resulting in various neurological symptoms. The condition may be inherited or be associated with conditions such as cancer and alcoholism.
A rare disorder characterized by mental deficiency and delayed development of speech and motor skills. The condition is nonprogressive and is caused by degeneration of a part of the brain called the cerebellum.
A rare brain disorder which manifests as reduced muscle tone, ataxia, cataracts and mental retardation.
A rare brain disorder which manifests as reduced muscle tone, ataxia, cataracts and mental retardation.