Diseases
Deafness- X-linked- DFN
A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers.
Deal Barratt Dillon syndrome
A very rare syndrome characterized mainly by scaly skin, jaundice, diarrhea and Fanconi syndrome (bone marrow fails to make sufficient new blood cells).
Defect in synthesis of adenosylcobalamin
A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning.
Defective apolipoprotein B-100
A rare inherited condition where defective apolipoprotein B-100 impairs the metabolism of cholesterol and results in high blood cholesterol which in turn increases the risk of cardiovascular disease.
Deficiency of the Interleukin-1 Receptor Antagonist
Degenerative motor system disease
Any of a number of condition characterized by destruction of nerves that carry signals to muscles (motor neurons) and results in various muscle problems. The nerve destruction is often progressive leading to increasingly severe muscle problems.
Degenerative optic myopathy
Degos ‘en cocarde’ erythrokeratoderma
A rare condition characterized by the presence at birth of fixed red thickened plaques on skin over joints.
Degos disease
A rare disorder where lesions caused by blood vessel inflammation and blockage form on the skin and eventually in the internal organs, especially in the small intestine.
Dehydratase deficiency
A very rare condition involving a deficiency of the enzyme called dehydratase. It is usually asymptomatic and often associated with high blood phenylalanine levels.
Delayed Graft Function
Dementia- familial Danish
A rare inherited form of dementia caused by the deposit of abnormal substances in the brain, spinal cord and retina and the degeneration of brain tissue. Deafness and cataracts usually started in the 20's with severe deafness occurring by the age of 45. Movement problems usually started after the age of 40 with death occurring in the 5th or 6th decade.
Dengue fever
An acute viral disease characterized by fever, rash and myalgia and caused by a flavivirus which is transmitted by mosquitoes.
Dennis Fairhurst Moore syndrome
A very rare lethal syndrome characterized mainly by dwarfism, characteristic facial features, small eyes and reduced hair.
Dens in dente and palatal invaginations
An inherited tooth anomaly where the back of the front teeth are abnormally grooved which increases the risk of tooth decay. Dens in dente is also present which is a developmental tooth abnormality where there appears to be a small tooth at the back of the base of a front tooth. Generally this condition occurs in the top lateral incisors.
Dent disease 1
A rare kidney disease inherited in a X-linked manner. It involves kidney tubule damage which results in progressive kidney dysfunction. There are two types of Dent disease and they differ in the origin of the genetic defect.
Dentatorubral pallidoluysian atrophy
A rare neurodegenerative disease. Adult patients suffer symptoms such as ataxia, choreoathetosis myoclonus, epilepsy and dementia and children suffer ataxia, myoclonus, epilepsy and mental retardation. The condition is also known as Haw River syndrome or Natito-Oyanagi disease.
Dentin dysplasia sclerotic bones
A rare inherited disorder characterized by teeth and bone abnormalities.
Dentin dysplasia- coronal
A rare inherited disorder characterized by opalescent primary teeth and abnormal secondary teeth which appear normal.
Dentin dysplasia- type 1
A rare inherited disorder characterized by abnormal dentin formation which results in abnormal tooth roots and pulp chambers.
Dentinogenesis imperfecta
Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.
Dentinogenesis imperfecta- shields type 3
Dercum’s Disease
Dercum’s disease is a rare condition characterized by multiple painful fatty tumors, called lipomas, that can grow anywhere in subcutaneous fat from scalp to plantar surface of the foot.
Dermochondrocorneal dystrophy of François
A rare condition characterized by osteochonral deformity (abnormal bone and cartilage development) of the hands and feet, dystrophy of the corneas and skin nodules on certain parts of the body.
Dermoids of cornea
Dermoodontodysplasia
A very rare syndrome characterized mainly by tooth, skin, hair and nail abnormalities.
Desbuquois syndrome
A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
Desminopathy
Desminopathy is one of the most common intermediate filament human disorders associated with mutations in closely interacting proteins, desmin and alphaB-crystallin. The inheritance pattern in familial desminopathy is characterized as autosomal dominant or autosomal recessive, but many cases have no family history. At least some and likely most sporadic desminopathy cases are associated with de novo DES mutations.
Desmoid disease- hereditary
A rare inherited disorder characterized by the development of benign growths called desmoid tumors or fibromatoses. The growth usually occurs in the abdomen but can occur in the neck, chest, arms and legs. Symptoms vary depending on the size and location of the growths. Even thought the growths are benign the can cause localized damage and obstruction. The condition can stabilize or become progressively worse and ultimately lead to death. The tumors often develop after some sort of trauma such as abdominal surgery or childbirth .