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.
Diseases
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 disorder characterized by multiple, painful growths of fatty tissue (lipomas). Fat tissue is known as loose connective tissue, hence Dercum’s disease is a loose connective tissue disease. The lipomas mainly occur on the trunk, the upper arms and upper legs and are found just below the skin (subcutaneously) but also can be found deeper in the body coupled to muscle, tendons, ligaments or bone by connective tissue. Pain associated with Dercum’s disease can often be severe. Pain may be caused by lipomas pressing on nearby nerves or inflamed connective tissue, also called fascia, which is commonly associated with the lipomas. Dercum’s disease mainly occurs in adults and more women are affected than men. Some affected individuals may also experience weight gain, depression, lethargy, and/or confusion. The exact cause of Dercum’s disease is unknown.
Dermatomyositis
Dermatomyositis is a rare autoimmune disease that causes inflammation, leading to a characteristic skin rash and progressive muscle weakness. Symptoms can include a distinctive reddish-purple rash, especially on the eyelids and joints, and symmetric weakness of the proximal muscles. While treatments like corticosteroids and physical therapy can manage symptoms, there is currently no cure for the condition. It can also affect other organs like the lungs and is associated with a higher risk of underlying malignancy.
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 .
Desmoplastic cerebral astrocytoma of infancy
A rare type of brain tumor that occurs in infants. The tumor consists of cancerous astrocytes.
Desmoplastic infantile ganglioma
A rare type of brain tumor that occurs in infants. The tumor may be slow-growing and benign or fast-growing and malignant.
Desmoplastic small round cell tumor
Desmoplastic small-round-cell tumor (DSRCT) is an aggressive and rare cancer that primarily occurs as masses in the abdomen. Other areas affected may include thelymph nodes, the lining of the abdomen, diaphragm, spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles, ovaries, and the pelvis. Reported sites of metatastic spread include the liver, lungs, lymph nodes, brain, skull, and bones.
The tumor is classified as a soft tissue sarcoma. It is considered a childhood cancer that predominantly strikes boys and young adults. The disease rarely occurs in females, but when it does the tumors can be mistaken for ovarian cancer.
Developmental and Epileptic Encephalopathies
The term “developmental and epileptic encephalopathy” (DEE) refers to when cognitive functions are influenced by both seizure and interictal epileptiform activity and the neurobiological process behind the epilepsy. Many DEEs are related to gene variants and the onset is typically during early childhood.
Dextrocardia-bronchiectasis-sinusitis
A genetic disorder characterized by sinusitis, bronchiectasis and situs inversus.
DFNB49 nonsyndromic deafness
DFNB49 non-syndromic deafness also known as dfnb 49 nonsyndromic hearing loss and deafness, is an inherited condition caused by mutations in the gene TRIC. Its "non-syndromic" designation means the hearing loss has not previously been linked to any other medical conditions.
Di Guglielmo’s syndrome
First described in 1923 and named after Giovanni Guglielmo. It is classified as an M6 subtype of acute myelogenous leukemia (AML). It is characterised by large numbers of nucleated red cells appearing in the bone marrow and circulating blood volume.
Diabetes hypogonadism deafness mental retardation
A rare genetic disorder characterized by mental retardation, reduced hormone production by the testes or ovaries, deafness and vision problems
diabetes insipidus – gestational
Diabetes insipidus- diabetes mellitus- optic atrophy
Wolfram syndrome is the inherited association of childhood-onset diabetes mellitus and progressive-onset optic atrophy. All people affected by Wolfram syndrome have juvenile-onset diabetes mellitus and degeneration of the optic nerve (optic atrophy).
Diabetes insipidus- nephrogenic type 2
Diabetes insipidus, nephrogenic type 2: A rare congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. Type II is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
Diabetes insipidus- nephrogenic type 3
Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass a large amount of urine. The tubules allow water to be removed from the body or reabsorbed.
Diabetes insipidus- nephrogenic with mental retardation and intracerebral calcification
Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification (medical condition): A rare syndrome characterized mainly by brain calcification, mental retardation, short stature, diabetes insipidus and unusual facial appearanc+B169 e. Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification: Another name for Schofer beetz bohl syndrome (or close medical condition association).
Diabetes insipidus- nephrogenic- dominant type
Diabetes insipidus, nephrogenic, dominant type: A rare dominantly inherited, congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. The condition is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
Diabetes mellitus type 1
Diabetes (medically known as diabetes mellitus) is the name given to disorders in which the body has trouble regulating its blood glucose, or blood sugar, levels. There are two major types of diabetes: type 1 diabetes and type 2 diabetes. Type 1 diabetes, also called juvenile diabetes or insulin-dependent diabetes, is a disorder of the body's immune system -- that is, its system for protecting itself from viruses, bacteria or any "foreign" substances. Type 1 diabetes diagnosed in adults over 30 may be Latent Autoimmune Diabetes in Adults (LADA), sometimes known as Type 1.5 diabetes. LADA is often misdiagnosed as type 2 diabetes because of age; however people with LADA do not have insulin resistance like those with type 2. LADA is characterized by age, a lack of family history of type 2 diabetes, a gradual increase in insulin requirements, positive antibodies, and decreasing ability to make insulin as indicated by a low C-peptide. A fourth and very rare form of diabetes, called monogenic diabetes, is also sometimes mistaken for type 1 diabetes but typically strikes newborns.
Type 1 diabetes occurs when the body's immune system attacks and destroys certain cells in the pancreas, an organ about the size of a hand that is located behind the lower part of the stomach. These cells - called beta cells - are contained, along with other types of cells, within small islands of endocrine cells called the pancreatic islets. Beta cells normally produce insulin, a hormone that helps the body move the glucose contained in food into cells throughout the body, which use it for energy. But when the beta cells are destroyed, no insulin can be produced, and the glucose stays in the blood instead, where it can cause serious damage to all the organ systems of the body.
For this reason, people with type 1 diabetes must take insulin in order to stay alive. This means undergoing multiple injections daily, or having insulin delivered through an insulin pump, and testing their blood sugar by pricking their fingers for blood six or more times a day. People with diabetes must also carefully balance their food intake and their exercise to regulate their blood sugar levels, in an attempt to avoid hypoglycemic (low blood sugar) and hyperglycemic (high blood sugar) reactions, which can be life threatening.