Rare diseases

human disease

Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or '''Lou Gehrig's disease''', is a rare terminal neurodegenerative disease defined by the progressive loss of both upper and lower motor neurons that normally control voluntary muscle contraction. ALS is the most common of the motor neuron diseases. ALS often presents in its early stages with gradual muscle stiffness, twitches, weakness, and wasting. Motor neuron loss typically continues until the ability to eat, speak, move, and breathe without mechanical support is lost. It is estimated that at least 50% of people

autosomal recessive disease characterized by the buildup of mucus

degenerative neurological disorder

Progeria (also Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome; HGPS) is a type of progeroid syndrome. A single gene mutation is responsible for causing progeria. The affected gene, known as lamin A (LMNA), makes a protein necessary for holding the cell nucleus together. When this gene mutates, an abnormal form of lamin A protein called progerin is produced. Progeroid syndromes are a group of diseases that cause individuals to age faster than usual. People born with progeria typically live until their mid- to late-teens or early twenties. Severe cardiovascular complication

twins physically joined in utero

multisystem disease due to abnormal accumulation of copper

human disease, a condition characterized by large amounts of dilute urine and increased thirst

Achondroplasia is a genetic disorder whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of for males and for females. Other features can include an enlarged head with prominent forehead (frontal bossing) and underdevelopment of the midface (midface hypoplasia). Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skelet

human disease

Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels, muscles, and internal organs. The disease can be either localized to the skin or involve other organs as well. Symptoms may include areas of thickened skin, stiffness, feeling tired, and poor blood flow to the fingers or toes with cold exposure. One form of the condition, known as CREST syndrome, classically results in calcium deposits, Raynaud's syndrome, esophageal problems, thickening of the skin of the fingers and toes, and areas of small, dilated blood vessels.

Gigantism ( ; from , plural: ), also known as giantism, is a condition characterized by excessive growth and height significantly above average. Technically, it includes humans with height at least three standard deviations above the mean, i.e., 198 cm (6'6") for men and 183 cm (6'0") for women. This condition is caused by over-production of growth hormone in childhood.

neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle

genetic brain disorder

genetic condition in humans

osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue

rare genetic disorder

neuropathic disorder

infection that results in the death of the body's soft tissue

disease that affects a small percentage of the population

medical condition

Human medical condition

Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina, the light-detecting tissue of the eye. It is the most common primary malignant intraocular cancer in children, and 80% of retinoblastoma cases are first detected in those under 3 years old.

T cell deficiency disease that is the result of a large deletion of chromosome 22, which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production

human genetic disorder

bone cancer that has material basis in neural crest cells derives from undeveloped, undifferentiated neuroectoderm

Hypertrichosis (sometimes known as werewolf syndrome or Ambras syndrome) is an abnormal amount of hair growth over the body. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area. Hypertrichosis can be either congenital (present at birth) or acquired later in life. The excess growth of hair occurs in areas of the skin with the exception of androgen-dependent hair of the pubic area, face, and axillary regions.

Prion disease of the human brain

rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs

extremely rare connective tissue disease

Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes , since dry, scaly skin is the defining feature of all forms of ichthyosis.

primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies

Syringomyelia is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord. Often, syringomyelia is used as a generic term before an etiology is determined. This cyst, called a syrinx, can expand and elongate over time, destroying the spinal cord. The damage may result in loss of feeling, paralysis, weakness, and stiffness in the back, shoulders, and extremities.

rare immune-mediated small-vessel systemic vasculitis in humans

human disease characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body

Mucormycosis, also known as black fungus, is a severe fungal infection that may cause fulminant fungal sinusitis, usually in people who are immunocompromised. It is mostly curable when diagnosed early. Symptoms depend on where in the body the infection occurs. It most commonly infects the nose, sinuses, eyes and brain resulting in a runny nose, one-sided facial swelling and pain, headache, fever, blurred vision, bulging or displacement of the eye (proptosis), and tissue death. Other sites of infection may include the lungs, stomach and intestines, and skin. It tends to progress rapidly and is

congenital disorder of digestive system

autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair

human disease

disease of the digestive tract in which tumors lead to excess acid and peptic ulcers

rare human genetic lysosomal storage disorder

wegner granulomatosis

human disease

Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes. The long chain fatty acid buildup causes damage to the myelin sheath of the neurons of the brain, resulting in seizures and hyperactivity. Other symptoms include problems in speaking, listening, and und

congenital skin disease

osteochondrosis that results in death and fracture located in hip joint

Hyperacusis is an increased sensitivity to sound and a low tolerance for environmental noise. Definitions of hyperacusis can vary significantly; it often revolves around damage to or dysfunction of the stapes bone, stapedius muscle or tensor tympani. It is often categorized into four subtypes: loudness, pain (also called noxacusis), annoyance, and fear. It can be a highly debilitating hearing disorder.

Situs inversus is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement of internal organs is known as situs solitus. Many people with situs inversus have no medical symptoms resulting from the condition, although cardiac problems are the most common complication. Until the advent of modern medicine, it was usually undiagnosed.

thumb|upright|Sirenomelia Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid's tail, hence the nickname.

neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia

human disease

Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid hormone (PTH). This can lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany (involuntary muscle contraction), and several other symptoms. It is a very rare disease. The condition can be inherited, but it is also encountered after thyroid or parathyroid gland surgery, and it can be caused by immune system-related damage as well as several rarer causes. The diagnosis is made with blood tests, and other investigations such as genetic testing, dep

a rare genetic disorder characterized by visceral cysts and benign tumors in multiple organ systems with potential for subsequent malignant change.

inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis and acute myelitis

group of neurological disorders affecting motor neurons

genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature