Disease – Page 125 – CheckOrphan

Malonic aciduria

Malonic Aciduria is a rare disorder caused by deficiency of Malonyl-CoA Decarboxylase (MCD). MCD is an enzyme that catalyzes the degradation of malonyl-CoA. Malonyl-CoA is a substrate for fatty acid synthesis and it also regulates oxidation of fatty acids by controlling their uptake into mitochondria. MCD may therefore regulate fatty acid synthesis and oxidation by affecting intracellular malonyl-CoA levels, but its function is not completely known. The gene for MCD, located on chromosome 16, has been cloned and mutations identified in patients with MCD deficiency.

Malouf syndrome

A very rare syndrome characterized mainly by heart disease as well as abnormal ovaries.

Malpuech facial clefting syndrome

A very rare syndrome characterized by mental and physical retardation, wide set eyes, genital abnormalities and a characteristic facial cleft.

Mandibular hypoplasia, Deafness, Progeroid features (MDP) Syndrome

Mandibuloacral dysplasia with type A lipodystrophy

A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities in type B. The severity of the symptoms is variable.

Mandibuloacral dysplasia with type B lipodystrophy

A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities, face and trunk in type B. The severity of the symptoms is variable.

Mandibulofacial dysostosis- Treacher Collins type- autosomal recessive

A rare, recessively inherited disorder characterized mainly by eye, face, mouth, ear and skull abnormalities.

Mannose binding lectin protein deficiency

Mannosidosis- beta A- lysosomal

A very rare type of inherited glycoprotein storage disease where deficiency of an enzyme called beta-mannosidase results in a build-up of certain sugars (oligosaccharides) which can harm the body.

Manouvrier syndrome

A very rare syndrome characterized mainly by the failure of the lungs to develop fully, heart defects and thumb abnormalities.

Mansonelliasis

Infection with a nematode (worm-like parasite) called Mansonella. Transmission usually occurs through the bite of a midge

Mantle cell lymphoma

Mantle cell lymphoma (MCL) belongs to a group of diseases known as non-Hodgkin’s lymphomas (NHL). NHL's are cancers that affect the the lymphatic system (part of the immune system). In MCL, there are cancerous B-cells (a type of immune system cell). The cancerous B-cells are within a region of the lymph node known as the mantle zone. Although MCLs are slow-growing cancers, the cancer is usually widespread by the time it is diagnosed. In these situations, treatment must be intensive since MCL can become life threatening within a short period of time.MCL accounts for 6% of all NHL's and is mostly found in males during their early 60s.

Median survival time were about 3 years, but it-s nowadays estimated by approx. 6 years.

Manz syndrome

A rare inherited kidney disorder characterized low blood magnesium and high urine calcium levels as well as nystagmus

Maple syrup urine disease

Maple syrup urine disease (MSUD, branched-chain ketoaciduria), is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine, particularly prior to diagnosis, and during times of acute illness.

Maple syrup urine disease- type 1A

A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1A specifically involves a defect in the E1-alpha subunit gene.

Maple syrup urine disease- type 1B

A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1B specifically involves a defect in the E1-beta subunit gene

Maple syrup urine disease- type 2

A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 2 specifically involves a defect in the E2 subunit gene.

Marburg hemorrhagic fever

Marburg hemorrhagic fever is a rare, severe type of hemorrhagic fever which affects both humans and non-human primates. Caused by a genetically unique zoonotic (that is, animal-borne) RNA virus of the filovirus family, its recognition led to the creation of this virus family. The four species of Ebola virus are the only other known members of the filovirus family.

Marchiafava Bignami disease

Marchiafava-Bignami disease (MB) refers to a disorder resulting in demyelination of the corpus callosum. It was first described by two Italian pathologists who identified it in the autopsies of three patients who presented in status epilepticus and subsequently developed coma (1). All three patients were chronic alcoholics and had consumed considerable amounts of red wine. We present the MR imaging findings in two patients with MB, discuss the differential diagnosis, and review the disease.

Marcus Gunn phenomenon

Marcus Gunn phenomenon (a.k.a. Marcus Gunn Jaw-Winking or Trigemino-oculomotor Synkineses) is an autosomal-dominant condition with incomplete penetrance, in which nursing infants will have rhythmic upward jerking of their upper eyelid. This condition is characterized as a synkinesis: when two or more muscles that are independently innervated have either simultaneous or coordinated movements.

Marden Walker like syndrome

A very rare syndrome characterized mainly by long, thin fingers, contractures from birth and narrow eye slits.

Marden-Walker syndrome

A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression

Marek disease

Marek's disease is a highly contagious viral neoplastic disease in chickens. Occasionally misdiagnosed as an abtissue pathology it is caused by an alphaherpesvirus known as Marek's disease virus (MDV) or gallid herpesvirus 2 (GaHV-2).

Marfan syndrome

Marfan syndrome is a genetic disorder of connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. It has a variable clinical presentation, ranging from mild to severe systemic disease. The most serious manifestations involve defects of the heart valves and aorta, which may lead to early death if not properly managed. The syndrome also may affect the lungs, eyes, dural sac surrounding the spinal cord, the skeleton, and the hard palate. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening.

Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). Leaks in these valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). The damage caused by Marfan syndrome can be mild or severe.

People with Marfan syndrome tend to be unusually tall, with long limbs and long, thin fingers and toes (arachnodactyly), and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis orkyphosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.

The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan can be fatal early in life; however, the majority of affected individuals survive into mid- to late adulthood.

Named after Antoine Marfan, the French pediatrician who first described the condition in 1896, the disease is an autosomal dominantdisorder. Management often includes the use of angiotensin II receptor antagonists (ARBs) and beta blockers.

Diseases