Lymphosarcoma
Cancer involving lymph nodes and the immune system.
Diseases
Lynch syndrome
Lynch syndrome (also known as HNPCC or hereditary nonpolyposis colorectal cancer) is an autosomal dominant genetic condition that has a high risk of colon cancer as well as other cancers including endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair. It is a type of cancer syndrome.
Lynch syndrome
Lynch Syndrome (previously known as HNPCC - Hereditary Non-Polyposis Colon Cancer) is an autosomal dominant cancer predisposition syndrome characterized by colorectal adenocarcinoma without (Lynch Syndrome type I) or with (Lynch Syndrome type II) extra colonic cancers (including ovarian, endometrium, small bowel, stomach, ureter or renal pelvis and others). Lynch syndrome is the most common cause of hereditary bowel cancer. However, fewer than 5 in 100 (5%) of all bowel cancers are linked to Lynch Syndrome.
Lysine alpha-ketoglutarate reductase deficiency
A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay.
Lysinuric protein intolerance
: A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter).
Lysosomal acid lipase deficiency
Lysosomal acid lipase deficiency (or LAL deficiency) happens when the body does not produce enough (or none) lysosomal acid lipase (LAL or LIPA) enzyme. This enzyme plays an important role in breaking down fatty material (cholesteryl esters and triglycerides) in the body. Infants, children and adults that suffer from LAL Deficiency experience a range of serious health problems. The lack of the LAL enzyme can lead to a build-up of toxic fatty substances in the body's cells and tissues.
Two rare conditions may result from this deficiency (likely representing two ends of a clinical spectrum): Wolman disease and cholesterol ester storage disease. These conditions are caused by mutations in the LIPA gene and are inherited in an autosomal recessive manner. Enzyme replacement therapy for both Wolman disease and cholesteryl ester storage disease is currently approved for use.
Lysteria monocytoigeneses meningitis
Lysteria monocytoigeneses meningitis: A very rare form of meningitis (bacterial infection of the brain membrane or meninges) caused by Listeria monocytogenes. The condition is more common in the elderly and those with poor immune system and death is common.
Mabry Syndrome
MacDermot Winter Syndrome
A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella)
Macleod Fraser syndrome
An inherited connective tissue disorder characterized by long thin fingers and contractures involving the knees, elbows, fingers and sometimes other joints.
Macrocephaly mesodermal hamartoma spectrum
A rare syndrome characterized mainly by a large head and multiple lipomas and hemangiomas. The severity of the disorder is variable.
Macrocephaly- benign familial
An enlarged head which tends to run in families and generally involves no mental or other problems.
Macrocephaly- mental retardation- short stature- spastic paraplegia and CNS malformations
A very rare syndrome characterized mainly by a large head, short stature and central nervous system problems.
Macrodactyly of the foot
A birth defect where the foot grows larger than normal.
Macrodactyly of the hand
A birth defect where the hand grows larger than normal.
Macroepiphyseal dysplasia with osteoporosis- wrinkled skin- and aged appearance
A rare disorder characterized by osteoporosis, wrinkled skin, aged appearance and abnormal bone development.
Macroglossia
Macroglossia is the medical term for unusual enlargement (hypertrophy) of the tongue. Severe enlargement of the tongue can cause cosmetic and functional difficulties including in speaking, eating, swallowing and sleeping.
Macrogyria- pseudobulbar palsy and mental retardation
A very rare syndrome characterized mainly by abnormal brain development which results in mild mental retardation, epilepsy, developmental delay and pseudobulbar palsy which affects speech, chewing and swallowing functions.
Macrophagic myofasciitis
A rare form inflammatory muscle disease which is more predominant in adults. A possible cause is believed to be aluminium found in some vaccines.
Macrosomia with lethal microphthalmia
A very rare syndrome characterized mainly by very small eyes and a large body size at birth.
Macrothrombocytopenia progressive deafness
A rare inherited disorder characterized by blood clotting problems due to abnormal blood platelet shape and progressive sensorineural hearing loss. The hearing loss starts prior to the 3rd decade with profound hearing loss occurring by the 4th decade. The platelet disorder starts in early childhood but usually causes no symptoms.
Macular dystrophy- atypical vitelliform
A rare inherited eye disorder that involves the development of small yellow lesions in the macula.
Macular dystrophy- concentric annular
A rare genetic eye disorder characterized by the development of a pigmented ring around a central area that appears normal. It is a relatively benign disorder with vision impairment generally occurring later in life
Macular dystrophy- corneal type 1
A rare genetic eye disease that affects the cornea. The condition is progressive.
Macular dystrophy- retinal- 1- North Carolina type
A rare genetic eye disorder that affects the central part of the retina (macula).
Macules hereditary congenital hypopigmented and hyperpigmented
A rare inherited genetic disorder involving small flat areas increased and decreased skin pigmentation
Madelung’s disease
A rare disorder involving defective fat metabolism which leads to a buildup of fat deposits in neck and shoulder area. Mainly occurs in male alcoholics.
Madokoro Ohdo Sonoda syndrome
A rare disorder characterized by the absence of all four limbs, an unusual face and retarded development.
Maffucci syndrome
Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple simple or cavernous soft tissue hemangiomas. Also lymphangiomas may be apparent.
Majeed syndrome
A rare syndrome characterized by blood abnormality and recurring bone infections.