TaoMedAI/RareMedData huggingface dataset:
Malignant granulosa cell tumor of the ovary (ORPHA:99915)
A rare malignant sex cord stromal tumor of ovary arising from the granulosa cells of the ovary, which occurs in peri and post menopausal women, and that presents with abnormal vaginal bleeding, abdominal pain and distension. The tumor is frequently unilateral, estrogen secreting, and has a slow natural history and a tendency to relapse long after the initial diagnosis.
Malignant melanoma of the mucosa (ORPHA:168999)
A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.
Malignant mixed Müllerian tumor of the ovary (ORPHA:213512)
Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis.
Malignant non-dysgerminomatous germ cell tumor of ovary (ORPHA:206538)
Malignant non-dysgerminomatous germ cell tumor of ovary is a rare malignant germ cell tumor of ovary (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome (see this term). Histologically they comprise the following: embryonal carcinoma, Yolk sac tumor, polyembryoma and mixed germ cell tumor.
Malignant peripheral nerve sheath tumor with perineurial differentiation (ORPHA:252128)
Malignant peripheral nerve sheath tumor with perineurial differentiation is a rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported.
Malignant peritoneal mesothelioma (ORPHA:168811)
Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity.
Epidemiology
Peritoneal mesothelioma accounts for 10 to 30% of all malignant mesotheliomas. The annual incidence is approximately 1/500,000 in France but reaches 1/200,000 in some parts of Europe (Italy). Men are predominantly affected.
Clinical description
The tumors are usually diagnosed in late adulthood (median age: 55 years). Typical presenting features are abdominal distention, abdominal pain, presence of an abdominal mass, impaired general state, weight loss, and ascites. Dyspnea, coagulation disorders, edema of the lower limbs and intestinal occlusion may be observed.
Etiology
The relationship between peritoneal mesothelioma and asbestos exposure is unclear, especially in women, and has not been established unlike in malignant pleural mesothelioma. Other causes have been reported such as exposure to erionite, viral infection and vaccine products and/or genetic factors.
Diagnostic methods
Diagnosis is based on imaging techniques, such as ultrasound and chest-abdominal-pelvic computed tomography (CAP-CT). Diagnosis is confirmed histologically on tissue biopsy and by relevant immunostaining results (positive for calretinin and negative for carcinoembryonic antigen (CEA)), and should be performed by two experts.
Differential diagnosis
Differential diagnosis includes peritoneal carcinomatosis secondary to colorectal or gastric cancer and primary peritoneal carcinoma (see this term).
Management and treatment
Treatment strategies require a multidisciplinary approach and must be discussed by a panel of physicians in a specialized center. There are currently no validated recommendations on clinical management and no cytotoxic agents have been granted a European Marketing Authorization (MA) in this indication. Currently proposed treatment with curative intent involves a combination of cytoreductive surgery (visceral resections and peritonectomy procedures) with hyperthermic intraperitoneal chemotherapy (HIPEC) (off-label use) in specific patients (young, good general status, low tumor volume). Systemic chemotherapy (off-label use) is sometimes used in palliative treatment.
Prognosis
With palliative treatment (systemic chemotherapy), median survival does not reach 1 to 2 years. Following cytoreductive surgery and HIPEC, median survival of more than 50 months, and 5-year survival of more than 50% may be obtained.

                            Last update: 
                            March 2011


                            - Expert reviewer(s): 
                            Pr Olivier GLEHEN
Malignant Sertoli-Leydig cell tumor of the ovary (ORPHA:99916)
A rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.
Malignant teratoma of ovary (ORPHA:398987)
A rare ovarian germ cell tumor characterized by a unilateral large adnexal mass containing variable amounts of immature embryonal-type tissues (mostly in the form of neuroectodermal tubules and rosettes, sometimes with a component of cellular mitotically active glia), admixed with ectodermal and endodermal elements with varying degrees of maturation. Patients typically present in their first three decades of life with signs and symptoms related to mass effect. The tumor is often associated with the occurrence of innumerable miliary nodules of mature glia in the peritoneum (gliomatosis peritonei) and abdominal lymph nodes.
Malignant triton tumor (ORPHA:252212)
Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST; see this term) characterized histopathologically by focal rhabdomyoblastic differentiation.
Epidemiology
Incidence of malignant triton tumors is not known. MTT accounts for about 5% of all MPNSTs. There appears to be an equal sex distribution.
Clinical description
Most cases are reported in adults (mean age of about 30 years) but patients of all ages have been described. It is estimated that between 40% and 70% of cases occur in patients with neurofibromatosis type 1 (see this term), with an earlier age of onset and predominantly in male subjects. The remaining cases are sporadic and occur at a later age. MTT generally arises from a peripheral nerve in the head, neck, extremities or trunk. Rare localizations include the brain, buttock, viscera, mediastinum and retroperitoneum. Exceedingly rare intracranial MTT, not associated with a cranial nerve, has been reported. MTT is defined histologically as a malignant peripheral nerve sheath tumor with additional rhabdomyoblastic differentiation. Prognosis is generally very poor since MTT is aggressive, with a poorer prognosis than classical MPNST, and is often difficult to completely resect. Local recurrence and distant metastases are common. 5-year survival for MTT is reported to be about 10-14%.
Etiology
The pathogenesis of MTTs has not been elucidated.

                            Last update: 
                            August 2014


                            - Expert reviewer(s): 
                            Dr Khin THWAY
Malonic aciduria (ORPHA:943)
Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).
Epidemiology
It is a very rare disorder that has been described in less than 20 patients.
Clinical description
This condition usually presents in early childhood and the manifestations are variable. The majority of patients are developmentally delayed with other features that include hypotonia, seizures, hypoglycaemia, metabolic acidosis, cardiomyopathy and diarrhoea.
Etiology
The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder.
Diagnostic methods
The diagnosis of malonic aciduria can be made by detecting elevated levels of organic acids (in particular malonic and methylmalonic acid) in the urine and high levels of malonylcarnitine in the blood. The diagnosis is confirmed by demonstrating reduced enzyme activity in cultured skin fibroblasts. Identification of the MLYCD gene mutation may also be useful for diagnosis and for genetic counselling.
Antenatal diagnosis
Screening of newborns may be possible through detection of elevated blood levels of malonylcarnitine using electrospray ionisation tandem mass spectrometry (ESI-MS/MS). Prenatal screening is theoretically possible through enzyme or DNA analysis of amniocytes or chorionic villus samples.
Management and treatment
The principle treatment is dietary, with patients being recommended to follow a low fat/high carbohydrate diet. Carnitine supplements may also be recommended.
Prognosis
The prognosis for patients is variable but the disease can be lethal in the neonatal period.

                            Last update: 
                            December 2006


                            - Expert reviewer(s): 
                            Pr Pascale DE LONLAY
Malposition of a coronary ostium (ORPHA:99090)
A rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.
MALT lymphoma (ORPHA:52417)
MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.
Epidemiology
It accounts for about 5% of non-Hodgkin lymphoma diagnosed annually. Annual incidence is estimated at about 1/313,000.
Clinical description
The disease mainly affects adults over 60 years of age (median age 65 years) with a slight female predominance. It is very rare in children. MALT lymphoma can develop in the gastrointestinal tract (especially in the stomach), lungs and glands (lacrimal, thyroid and breast). The main symptoms are nonspecific and include fatigue, fever, nausea, constipation, weight loss and anemia. Other symptoms depend on the affected organs: abdominal pain in cases with gastric involvement, recurrent respiratory infections in cases with pulmonary involvement and visual impairment in cases with lacrimal gland involvement. In general, patients do not have lymphadenopathy.
Etiology
In most cases, MALT lymphoma is secondary to autoimmune disease or chronic infection. There is a well-established link between chronic Helicobacter pylori infection and gastric MALT lymphoma. In 40% of cases of gastric lymphoma associated with H. pylori infection and in 53% of cases of MALT lymphoma not associated with H. pylori infection, MALT lymphoma is associated with a translocation t(11;18)(q21;q21) leading to the fusion of two genes, BIRC3 and MALT1, implicated in apoptosis regulation.
Diagnostic methods
Diagnosis is based on histology of the lesion, as in all lymphomas, a complete blood count and biochemical analysis. Endoscopic examination is required for gastrointestinal or pulmonary lymphoma. MRI and CT scanning are required to determine the stage of the disease. Bone marrow biopsy is also performed.
Differential diagnosis
Differential diagnoses include B cell lymphomas, diffuse large B cell lymphomas, all other non-Hodgkin lymphomas (see these terms), and infection with H. pylori.
Management and treatment
In cases with localized gastric involvement that are due to H. pylori, antibiotic therapy often results in regression of the lymphoma. In other cases, chemotherapy (chlorambucil, cyclophosphamide, or fludarabine) is required. Radiotherapy may be considered in cases of conjunctival lymphomas and in recurrent cases of localized forms, particularly gastric forms. Conjunctival MALT lymphoma is treated with interferon alpha-2a.
Prognosis
These lymphomas evolve slowly. When the lymphoma is isolated, the 10yr-survival rate after treatment is around 75%.

                            Last update: 
                            March 2010


                            - Expert reviewer(s): 
                            Dr Vincent RIBRAG
Mammary-digital-nail syndrome (ORPHA:238744)
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.
MAN1B1-CDG (ORPHA:397941)
MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).
Mandibular arteriovenous malformation (ORPHA:141174)
Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome (ORPHA:363649)
A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance.
Mandibuloacral dysplasia (ORPHA:2457)
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
Mandibulofacial dysostosis with alopecia (ORPHA:443995)
A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss.
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome (ORPHA:357158)
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma.
Manganese poisoning (ORPHA:306682)
A rare disorder due to toxic effects characterized by a progressive, permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity.
Mansonelliasis (ORPHA:2459)
A form of filariasis, distributed throughout sub-Saharan Africa as well as in some locations of Central and South America and the Caribbean, caused by the parasitic worms Mansonella perstans and Mansonella ozzardi. The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis), severe abdominal pain and endocrine disturbances.
Mantle cell lymphoma (ORPHA:52416)
Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.
Epidemiology
It accounts for 2-10% of lymphomas. Prevalence is estimated at about 1/25,000.
Clinical description
Mantle cell lymphoma affects middle-aged adults, especially around 65 years (range 35-85 years) with males affected more than females (ratio M/F: 4:1). At diagnosis, most patients present with a disseminated form of the disease. Mantle cell lymphoma is often associated with generalized adenopathy (90% of cases), gastrointestinal disorders (60% of cases) and bone marrow involvement (55-80% of cases). Fever and impaired general condition (fatigue, loss of appetite and weight loss) may occur.
Etiology
Mantle cell lymphoma is caused by a chromosomal translocation t(11;14) (q13;q32), which juxtaposes the CCND1 gene to the gene encoding for heavy chain immunoglobulins, leading to abnormally high expression of cyclin D1, a cell cycle regulator, in the nucleus of lymphoma cells.
Diagnostic methods
Diagnosis is based on lymph node biopsy revealing the presence of tumor cells. Phenotypic immunohistochemical analysis as well as evidence of abnormal expression of cyclin D1 (or the translocation t(11;14) by FISH or conventional cytogenetics) is necessary to confirm the diagnosis. Analysis of the stage of the disease is done with imaging (ultrasound, CT scanning and MRI) as well as bone marrow analysis (biopsy). Endoscopic examination should be used to detect intestinal involvement.
Differential diagnosis
Differential diagnoses include follicular lymphoma (see this term) and other forms of lymphoma.
Management and treatment
Treatment of mantel cell lymphoma includes intensive chemotherapy combined with monoclonal antibodies. In younger patients, autologous stem cell transplantation is currently suggested. Torisel (chemotherapy) is a product that has received European market authorization as an orphan drug for refractory or relapsing disease. Rare localized forms of the disease may benefit from radiotherapy.
Prognosis
Few patients (30%) have a complete response to current treatments. The median overall survival time reported in the literature is 3-5 years.

                            Last update: 
                            March 2010


                            - Expert reviewer(s): 
                            Dr Vincent RIBRAG
Maple syrup urine disease (ORPHA:511)
A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.
Epidemiology
The estimated prevalence is around 1/150,000 live births, from published and unpublished newborn screening data.
Clinical description
Classic MSUD presents in the first days of life with poor feeding and drowsiness followed by a worsening encephalopathy with lethargy, intermittent apnea, stereotypic movements ("fencing" and ''bicycling") and opisthotonus. Coma and central respiratory failure supervene 7 to 10 days after birth. The only abnormality in biochemistry is ketosis. Intermediate MSUD clinically resembles classic MSUD but it can have a later onset and less severe symptoms. Intermittent MSUD patients are asymptomatic at birth but may suffer episodes of acute decompensation or develop neurological symptoms and developmental delay during childhood. Thiamin-responsive MSUD is clinically similar to intermediate MSUD with thiamin therapy improving dietary leucine tolerance.
Etiology
MSUD is due to mutations in the genes encoding subunits E1a, E1b, and E2 of the branched chain 2-ketoacid dehydrogenase (BCKAD) complex, involved in the second enzymatic step in the degradation of the branched chain amino acids (BCAAs): leucine, isoleucine and valine. BCKAD has four subunits: E1a, E1b, E2, and E3, which are encoded by the genes BCKDHA (19q13.1-q13.2), BCKDHB (6q14.1), DBT (1p31) and DLD (7q31-q32) respectively. Mutations in these genes lead to the accumulation of BCAAs (especially leucine) and their branched-chain alpha-ketoacids. Mutations in the E3 subunit gene (DLD) are not associated with MSUD but lead to pyruvate dehydrogenase E3 deficiency (see this term). A mutation in the PPM1K gene (4q22.1) has been reported in a single case of mild intermediate MSUD.
Genetic counseling
MSUD follows an autosomal recessive inheritance pattern and genetic counseling is possible.

                            Last update: 
                            April 2014


                            - Expert reviewer(s): 
                            Dr Bridget WILCKEN
Marburg acute multiple sclerosis (ORPHA:228157)
Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.
Marchiafava-Bignami disease (ORPHA:221074)
A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma.
Marfanoid habitus-autosomal recessive intellectual disability syndrome (ORPHA:2463)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984.