TaoMedAI/RareMedData huggingface dataset:
Myelodysplastic neoplasm with low blasts (ORPHA:98826)
Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.
Epidemiology
Exact prevalence is unknown but RCUD accounts for about 10% to 20% of patients with MDS which has a prevalence estimated to be 1/25,000 to 1/33,000. The disease tends to occur in older adults with a male predominance.
Clinical description
Clinical features are often nonspecific and are related to the underlying cytopenia. Patients are often asymptomatic and cytopenia is detected on routine blood tests. RCUD often has a prolonged and sometimes indolent course. Most patients with RCUD have refractory anemia (unilineage erythroid dysplasia), and very rarely refractory neutropenia (unilineage granulocytic dysplasia) or thrombocytopenia (unilineage megakaryocytic dysplasia). Anemia may be normocytic/normochromic but is often macrocytic. Blasts are absent or account for less than 1% in peripheral blood or less than 5% in bone marrow, and no Auer rods are present.
Etiology
The etiology is not known but is thought to involve inherited susceptibility or hematopoietic stem cell damage.
Prognosis
Median survival is reported to be 6 to 7 years and 5% to 10% of patients progress to acute leukemia.

                            Last update: 
                            February 2015
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality (ORPHA:86841)
A rare myelodysplastic syndrome characterized by macrocytic anemia (with or without other cytopenias and/or thrombocytosis), and with del(5q) occurring either in isolation, or with one other cytogenetic abnormality, other than monosomy 7 or del(7q). The bone marrow is typically hypercellular with erythroid hypoplasia and increased numbers of megakaryocytes, which show non-lobated and hypolobated nuclei. Myeloblasts constitute less than 5% of the nucleated bone marrow cells and less than 1% of the peripheral blood leukocytes. Auer rods are absent. Ring sideroblasts may be observed. Patients present with anemia and often thrombocytosis, while thrombocytopenia or pancytopenia are uncommon. Transformation to acute myeloid leukemia may occur in a small number of patients.
Myeloid sarcoma (ORPHA:86850)
Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.
Epidemiology
The exact prevalence is unknown.
Clinical description
The clinical presentation depends on the site of involvement. Commonly involved sites of occurrence include the subperiosteal bone structures of the skull, paranasal sinuses, sternum, ribs, vertebrae, pelvis, as well as the lymph nodes and skin. Rare sites include the pancreas, heart, brain, mouth, breast, gastrointestinal and biliary tract, prostate, urinary bladder and gynecologic tract.

                            Last update: 
                            January 2007
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement (ORPHA:168953)
A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement (ORPHA:168947)
A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement (ORPHA:168950)
A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.
Myeloperoxidase deficiency (ORPHA:2587)
A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.
Myoclonic epilepsy in non-progressive encephalopathies (ORPHA:86913)
A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.
Myoclonic epilepsy of infancy (ORPHA:86909)
A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity, can be singular or occur in a series, and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset, although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients.
Myoclonus-cerebellar ataxia-deafness syndrome (ORPHA:2589)
This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.
Epidemiology
So far, less than 10 cases have been reported in the literature.
Clinical description
The hearing loss was generally diagnosed during childhood or early adulthood and the myoclonic jerks began during adolescence.
Genetic counseling
Transmission appears to be autosomal dominant.

                            Last update: 
                            July 2008
Myofibrillar myopathy (ORPHA:593)
Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.
Myopathic Ehlers-Danlos syndrome (ORPHA:536516)
A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.
Myopathy and diabetes mellitus (ORPHA:2596)
A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.
Myopathy with hexagonally cross-linked tubular arrays (ORPHA:171889)
Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.
Myopericytoma (ORPHA:289685)
A rare soft tissue tumor characterized by a benign subcutaneous lesion composed of oval-to-spindle shaped myoid appearing cells with a tendency for concentric perivascular growth. The tumor usually presents as a painless, slowly growing nodule, which may be solitary or appear as multiple lesions, which then arise metachronously and usually involve a particular anatomic region. Recurrence after surgical excision may occur in poorly circumscribed tumors. Malignancy is very rare.
Myosclerosis (ORPHA:289380)
Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.
Myosin storage myopathy (ORPHA:53698)
A rare congenital myopathy characterized by generalized proximal and distal muscle weakness and/or atrophy with slow progression. A subset of patients present with scapuloperoneal weakness and scapular winging. Disease onset usually occurs during infancy/childhood, but adult-onset cases have also been reported. Patients may have respiratory problems and/or cardiomyopathy. Muscle biopsies show hyaline body inclusions in type I fibers.
Myospherulosis (ORPHA:306553)
A rare maxillo-facial surgical disease characterized by an inflammatory, granulomatous lesion, most commonly of iatrogenic origin due to interaction of extravasated erythrocytes with exogenous lipids, in particular petrolatum-based antibiotic ointment used after surgical procedures. Most frequent locations are the paranasal sinuses and jaws, although the lesion can occur in any part of the body. It is typically found incidentally as an asymptomatic soft tissue swelling.
Myotonia fluctuans (ORPHA:99734)
A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.
Epidemiology
Prevalence is unknown.
Clinical description
Fluctuating myotonia develops during childhood or adolescence and involves the extraocular, bulbar and limb muscles. Eyelid myotonia is often the first sign of the disease. Episodes of stiffness vary in severity and frequency and may be separated by prolonged periods of normality. Myotonia is aggravated by potassium ingestion and appears with a delayed onset (10-30 min) after exercise (exercise-induced delayed-onset myotonia). Cold has no effect on myotonia. Paralysis is never observed. Episodic weakness is rare.
Etiology
Myotonia fluctuans is a sodium muscle channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4.
Genetic counseling
Transmission is autosomal dominant.

                            Last update: 
                            October 2010


                            - Expert reviewer(s): 
                            Dr Savine VICART
Myotonia permanens (ORPHA:99735)
A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).
Epidemiology
Prevalence is unknown.
Clinical description
Continuous and severe myotonia begins during childhood (usually before 10 years of age) and involves mainly the face, neck, limbs, and thoracic muscles. It can be aggravated by exercise or potassium ingestion and less often by cold. Occasionally, patients have muscle hypertrophy, especially of the neck and shoulders. Paralysis is never observed. Severe stiffness of the pharyngeal and respiratory muscles may provoke episodes of hypoxia and acidosis that can compromise the respiratory function. Close monitoring is necessary during surgery as rigidity and rhabdomyolysis may occur. Depolarizing agents can cause severe ventilation problems due to a paradoxical increase of stiffness in respiratory muscles and must be avoided.
Etiology
Myotonia permanens is a muscle sodium channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4.
Genetic counseling
Transmission is autosomal dominant.

                            Last update: 
                            October 2010


                            - Expert reviewer(s): 
                            Dr Savine VICART
Myxofibrosarcoma (ORPHA:79105)
A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms.
Myxopapillary ependymoma (ORPHA:251643)
Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.
Müllerian aplasia and hyperandrogenism (ORPHA:247768)
A rare syndrome with 46,XX difference of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone.
Müllerian derivatives-lymphangiectasia-polydactyly syndrome (ORPHA:1655)
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.
Müllerian duct anomalies-limb anomalies syndrome (ORPHA:2491)
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.
N syndrome (ORPHA:2608)
A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (incl. dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974.
NAD(P)HX dehydratase deficiency (ORPHA:555402)
A rare neurometabolic disease characterized by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. The condition is fatal in the first years of life.
NAD(P)HX epimerase deficiency (ORPHA:555407)
A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.
Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
A rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.
Epidemiology
Several families with multiple affected members (males and females) from several generations have been reported so far. Prevalence is estimated at 1 in 3 million.
Clinical description
The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, tooth enamel defects, and moderate hyperkeratosis of the palms and soles. Diffuse palmoplantar keratoderma may coexist with punctate keratoses that are sometimes accentuated in the creases or exhibit a linear pattern. Congenital misalignment of the great toenails was reported in some patients.
Etiology
NFJ is inherited as an autosomal dominant condition and is caused by mutations in the KRT14 gene (17q11.2-17q21) encoding keratin 14. The disease is allelic to dermatopathia pigmentosa reticularis (see this term).
Diagnostic methods
Diagnosis is based on the typical clinical features and can be confirmed by molecular analysis.
Differential diagnosis
Differential diagnoses include incontinentia pigmenti, dermatopathia pigmentosa reticularis, dyskeratosis congenita, pachyonychia congenita and Dowling-Degos disease (see these terms).
Antenatal diagnosis
Prenatal diagnosis has not been reported so far.
Management and treatment
Treatment is symptomatic. The dry skin has to be moisturized with emollients, and hyperthermia should be prevented by use of appropriate clothing and physical cooling with wet dressings or cool water during warm periods. Dental care is imperative to prevent caries and tooth loss.
Prognosis
The reticulate pigmentation fades after puberty and sometimes disappears completely in old age. Hypohidrosis, the most problematic symptom for patients, remains constant. Teeth are always severely affected, leading to early total loss.

                            Last update: 
                            January 2009


                            - Expert reviewer(s): 
                            Pr Peter ITIN
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome (ORPHA:423454)
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.
Nail-patella-like renal disease (ORPHA:2613)
A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.