Rare diseases

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

Human disease

Human disease

X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis

Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidized form alkapton are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves, as well as precipitating as kidney stone

disease of the eye affecting prematurely born babies generally having received intensive neonatal care, in which oxygen therapy is used on them due to the premature development of their lungs

neurodegenerative disorder

group of dominantly inherited, predominately late-onset, cerebellar ataxias. Neuro-developmental outcome and brain-derived neurotrophic factor level in relation to feeding practice in early infancy.

Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused by the accumulation of functionally defective mast cells (also called mastocytes) and CD34+ mast cell precursors.

neurodegenerative disorder characterized by autonomic failure, parkinsonism, cerebellar impairment and corticospinal signs, with a median survival of 6-9 years

human disease

Diphallia, penile duplication (PD), diphallic terata, or diphallasparatus is an extremely rare developmental abnormality in which a male is born with two penises. The first reported case was by Johannes Jacob Wecker in 1609. Its occurrence is 1 in 5.5 million newborn.

viral disease affecting human brains

disease involving clonal proliferation of Langerhans cells

an inflammatory demyelinating disorder of the spinal cord, either idiopathic or secondary to a known cause

Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing monooxygenase 3 (FMO3). When FMO3 is not working correctly or if not enough enzyme is produced, the body loses the ability to properly convert the rotting fish smelling chemical trimethylamine (TMA) from precursor compounds in food digestion into trimethylamine oxide (TMAO), through a process called N-oxidation.

combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems

disease of the blood characterized by destruction of red blood cells by the complement system, a part of the body's innate immune system

congenital disorder of the nervous system

rare disease

rare insidious sequela from measles infection

Dextrocardia () is a rare congenital condition in which the apex of the heart is located on the right side of the body, rather than the more typical placement towards the left. There are two main types of dextrocardia: dextrocardia of embryonic arrest (also known as isolated dextrocardia) and 'dextrocardia situs inversus'''. Dextrocardia situs inversus'' is further divided.

human disease

glycogen metabolism disorder that has material basis in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types

human disease

severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells

Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. If there is decreased secretion of one specific pituitary hormone, the condition is known as selective hypopituitarism. If there is decreased secretion of most or all pituitary hormones, the term panhypopituitarism (pan meaning "all") is used.

congenital disorder of nervous system

Lethal autosomal recessive disorder

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of free cystine, the oxidized dimer of the amino acid cysteine in lysosomes, eventually leading to intracellular crystal formation throughout the body, e.g. in kidneys.

Human disease

human disease

Achromatopsia, also known as rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy. Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition. The term is also used to describe cerebral achromatopsia, though monochromacy is usually the only common symptom. The conditions include: monochromatic color blindness, poor visual acuity, and day-blindness. The syndrome is also present in an incomplete form that exhibits milder symptoms, including r

thumb Epispadias is a birth defect in which the urethra fails to fully develop, resulting in urine leaving the body from an abnormal site. In males, this may be an opening on the upper aspect of the penis, and in females when the urethra develops too far anteriorly. It occurs in around one in 117,000 newborn boys and one in 484,000 newborn girls.

osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull

type of carcinoma that commonly arises within lung and sometime other body sites

Human disease

Osteopetrosis, literally , also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break.

mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain

Arthrogryposis (AMC) is congenital joint contracture in two or more areas of the body. It derives its name from Greek, actually meaning 'curving of joints' ('''', 'joint'; ', late Latin form of late Greek ', 'hooking').

ischemic bone disease that results in necrosis located in epiphysis

Ectrodactyly, split hand, or cleft hand () involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet.

encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin

congenital disorder of nervous system

Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain. The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal" and troph, "growth". The leukodystrophies are caused by imperfect growth or development of the glial cells which produce the myelin sheath, the fatty insulating covering around nerve fibers. Leukodystrophies may be classified as hypomyelinating or demyelinating diseases, respectively, depending on whether the damage is present before birth or occurs after. While all leukodystrophies are

Human disease of premature infants

rare disease

autosomal dominant disease characterized by increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata

congenital heart disease characterized by abnormal development of the left-sided structures of the heart

condition that causes tissue to become necrotic, causing deep ulcers that usually occur on the legs

Microphthalmia (Greek: , ), also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. Microphthalmia is a distinct condition from anophthalmia and nanophthalmia. Although sometimes referred to as 'simple microphthalmia', nanophthalmia is a condition in which the size of the eye is small but no anatomical alterations are present.

medical condition

congenital disorder of digestive system investigation of choice of the disease is MRCP

rare and fatal autosomal recessive neurodegenerative disorder

Human disease

uveal cancer that has material basis in uvea pigment cells

autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life

progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia

disease

an inborn error of cholesterol synthesis, caused by a mutation in the enzyme 7-Dehydrocholesterol reductase