Diseases

Metaphyseal chondrodysplasia Schmid type

Metaphyseal chondrodysplasia, Schmid type (MCDS), is a very rare inherited disorder characterized by short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Other physical characteristics may include outward "flaring" of the bones of the lower rib cage, lumbar lordosis, pain in the legs, and/or hip deformities in which the thigh bone is angled toward the center of the body (coxa vara). Such abnormalities of the legs and hips typically result in an unusual "waddling" walk (gait). MCDS is transmitted as an autosomal dominant trait.

Metaphyseal chondrodysplasia- others

McKusick type metaphyseal chondrodysplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.

Metaphyseal dysplasia maxillary hypoplasia brachydactyly

Metaphyseal dysplasia - maxillary hypoplasia - brachydactyly: A very rare syndrome characterized mainly by short fingers, underdeveloped upper jaw and bone abnormalities involving the cone-shaped portion near the end of the bones where growth occurs

Metaphyseal dysplasia Pyle type

Metaphyseal dysplasia is a very rare disorder in which the outer part of the shafts of long bones is unusually thin with a tendency to fracture. Aside from valgus knee deformities (commonly known as knock-knee), many patients with metaphyseal dysplasia exhibit few or no symptoms. However, the disorder comes in a variety of forms, some of which cause serious problems including mental retardation, blindness, and deafness.

Metastatic castration-resistant prostate cancer

Castration-resistant prostate cancer (CRPC) is a form of
advanced prostate cancer. With CRPC, the cancer no longer
completely responds to treatments that lower testosterone.
It shows signs of growth, like a rising PSA (prostate-specific
antigen), even with low levels of testosterone.
With Metastatic CRPC (mCRPC), the cancer stops
responding to hormone treatment, and it is found in other
parts of the body. It can spread to nearby lymph nodes,
bones, the bladder, rectum, liver, lungs, and maybe the
brain.

Metastatic insulinoma

Metastatic insulinoma: A rare form of pancreatic cancer that causes excessive secretion of the hormone insulin and can spread to other parts of the body (metastasis).

Metastatic Melanoma

Metastatic melanoma is a term used when melanoma cells of any kind (cutaneous, mucosal or ocular) have spread through the lymph nodes to distant sites in the body and/or to the body's organs. The most dangerous aspect of melanoma is its ability, in later stages, to spread (or metastasize) to other parts of the body.

Three groups of patients are identified: those with cutaneous, nodal, or gastrointestinal tract metastases; those with isolated pulmonary metastases; and those with liver, brain, or bone metastases.

Metastatic squamous neck cancer with occult primary

Metastatic squamous neck cancer with occult primary: A type of cancer that occurs in the neck and has spread (metastasized) to the lymph nodes from a primary source that has not been able to be determined. Squamous cells are cells that line hollow organs as well as the skin and throat.

Metatarsus adductus

Metatarsus adductus is a foot deformity. The bones in the middle of the foot bend in toward the body

Metatrophic dysplasia

Metatrophic dysplasia: A very rare form of dwarfism involving short limbs and a long trunk. Less than 100 cases of the condition have been reported.

Metatropic dwarfism

Metatropic dwarfism is a severe skeletal dysplasia characterized by extremely small stature with short arms and legs. Other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism. This condition, caused by mutations in the TRPV4 gene, may be inherited in either an autosomal dominant or autosomal recessive manner.

Methionine adenosyl transferase deficiency

Methionine adenosyltransferase deficiency: A rare inborn error of metabolism characterized by high methionine levels in the blood due to an enzyme deficiency (methionine adenosyltransferase). Most cases are asymptomatic but severe cases with very low enzyme activity can cause neurological symptoms.

Methylcobalamin deficiency cbl G type

Methylcobalamin deficiency cbl G type: An inherited organic acid disorder where an enzyme deficiency (cbl G) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of homocystine which results in harmful affects.

Methylcobalamin deficiency- cbl E complementation type

Methylcobalamin deficiency, cbl E complementation type: An inherited organic acid disorder where an enzyme deficiency (cbl E) impairs the body's ability to break down cobalamin in the diet. This results in a buildup of homocystine which results in harmful affects.

Methylenetetrahydrofolate reductase deficiency

Methylene tetrahydrofolate reductase deficiency: A inborn error of metabolism where an inherited deficiency of methylene tetrahydrofolate reductase causes symptoms of ranging severity - from asymptomatic to severe neurological degeneration and premature death.

Methylmalonic acidemia

 Methylmalonic acidemia (MMA, also called methylmalonic aciduria), first characterized by Oberholzer et al. in 1967, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood.

Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated. It is estimated that this disorder has a frequency of 1 in 48,000 births, though the high mortality rate in diagnosed cases make exact determination difficult.

Methylmalonic acidemias are found with an equal frequency across ethnic boundaries


Methylmalonic acidemia with homocystinuria

MMA+HCU stands for “methylmalonic acidemia with homocystinuria”. It is one type of organic acid disorder. People with MMA+HCU have problems breaking down and using certain amino acids and fatty acids from the food they eat.

Methylmalonic aciduria cblA type

MMA stands for “methylmalonic acidemia”. It is one type of organic acid disorder. People with MMA have problems breaking down and using certain amino acids and fatty acids from the food they eat.

Methylmalonicacidemia with homocystinuria- cbl D

Methylmalonicacidemia with homocystinuria, cbl D: An inherited organic acid disorder where an enzyme deficiency (cblD) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects

Methylmalonicacidemia with homocystinuria, cbl J

Methylmalonicacidemia with homocystinuria, cobalamin (cbl) J: It is a type of organic acid disorder. People with methylmalonicacidemia and homocystinuria have problems breaking down and using certain amino acids and fatty acids from the food they eat. More specifically, people with "Methylmalonicacidemia with homocystinuria, cbl J are unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, psychosis, stroke.

Methylmalonicaciduria with homocystinuria- cbl F

Methylmalonicaciduria with homocystinuria, cobalamin F: An inherited organic acid disorder where an enzyme deficiency (cbl F) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects.