TaoMedAI/RareMedData huggingface dataset:
Plummer-Vinson syndrome (ORPHA:54028)
Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.
Epidemiology
Exact data about the epidemiology of the syndrome are not available; the syndrome is extremely rare.
Clinical description
Most of the patients are white middle-aged women, in the fourth to seventh decade of life, but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia) may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers.
Etiology
The etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes.
Management and treatment
Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

                            Last update: 
                            September 2006


                            - Expert reviewer(s): 
                            Pr Gottfried NOVACEK
PMM2-CDG (ORPHA:79318)
A rare congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
PMP2-related Charcot-Marie-Tooth disease type 1 (ORPHA:476394)
A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.
PMP22-RAI1 contiguous gene duplication syndrome (ORPHA:477817)
A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed.
Pneumococcal meningitis (ORPHA:55655)
A rare infectious disease of the nervous system caused by the bacterium Streptococcus pneumoniae, which is commonly part of the bacterial flora colonizing the nasopharyngeal mucosa. The disease is clinically characterized by typical symptoms of acute leptomeningitis, like fever, headache, neck stiffness, vomiting, and clouding of consciousness. It is frequently fatal and, in surviving patients, often accompanied by long-term sequelae, especially focal neurological deficits, hearing loss, cognitive impairment, and epilepsy.
Pneumocystosis (ORPHA:723)
Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.
Pneumonia caused by Pseudomonas aeruginosa infection (ORPHA:90066)
A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.
POGLUT1-related limb-girdle muscular dystrophy R21 (ORPHA:480682)
A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.
Poikiloderma with neutropenia (ORPHA:221046)
Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.
Poliomyelitis (ORPHA:2912)
Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.
Epidemiology
Progress in global poliomyelitis eradication, since its beginning in 1988, has been remarkable. In 1988, 125 countries were endemic for poliomyelitis and an estimated 1000 children were being paralyzed every day by wild poliovirus. By the end of 2003, six polio-endemic countries remained (Afghanistan, Egypt, India, Niger, Nigeria, Pakistan), and less than 3 children per day were being paralyzed by the poliovirus. The Global Poliomyelitis Eradication Initiative is ongoing. There remain only 4 endemic countries (Pakistan, Afghanistan, India, and Nigeria) and just 2000 reported cases globally in 2006.
Clinical description
It primarily affects children under the age of 5. Generally the infection is limited to the grastrointestinal tract and nasopharynx and is often asymptomatic. The central nervous system, primarily the spinal cord, may be affected, leading to rapidly progressive paralysis. Motor neurons are mainly affected. Encephalitis may also occur.
Etiology
Transmission is mainly person-to-person, principally through the fecal-oral route. The virus replicates in the nervous system and particularly affects motor neurons in the anterior horn of the spinal cord (`polio' means `gray').
Differential diagnosis
Poliomyelitis must be distinguished from other paralytic conditions by isolation of virus from stool.
Management and treatment
Prevention is the only cure for paralytic poliomyelitis. Two vaccines against poliomyelitis are available: an inactive injectable vaccine and a live attenuated vaccine that is taken orally. Europe was certified as polio-free in June 2002 and immunization and disease surveillance continue to ensure the region remains polio-free

                            Last update: 
                            January 2010


                            - Expert reviewer(s): 
                            Dr Bruce AYLWARD  - Dr David HEYMANN
Polyarticular juvenile idiopathic arthritis (ORPHA:404580)
A rare type of juvenile idiopathic arthritis characterized by arthritis with an onset prior to the age of 16 years persisting for longer than six weeks and affecting at least five joints during the first six months of the disease. Other possible causes of joint inflammation must be excluded. Two subgroups of the disease can be distinguished, based on the presence of absence of rheumatoid factor. Both subgroups are more common in girls and may be associated with mild fever, weight loss, anemia, moderate hepatosplenomegaly, and mild growth retardation.
Polyclonal hyperviscosity syndrome (ORPHA:450322)
A rare hematologic disease characterized by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström's macroglobulinemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal hemorrhage, headache, stroke, pulmonary hypertension, and congestive heart failure.
Polydactyly of a biphalangeal thumb and/or hallux (ORPHA:93339)
A rare non-syndromic limb malformation characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. Hallux duplication may present concomitantly to, or independently of thumb polydactyly and is predominantly unilateral right.
Polydactyly of a triphalangeal thumb (ORPHA:93336)
Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).
Polydactyly of an index finger (ORPHA:93337)
Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962.
Polydactyly-myopia syndrome (ORPHA:2917)
Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.
Polyembryoma (ORPHA:180229)
A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated.
Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.
Polyglucosan body myopathy type 1 (ORPHA:397937)
Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.
Polyglucosan body myopathy type 2 (ORPHA:456369)
A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.
Polymalformative genetic syndrome with increased risk of developing cancer (ORPHA:183422)
Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.
Epidemiology
There are no published data on the prevalence of the set of all syndromes included in this category but, as each syndrome has its specific prevalence, it can be roughly estimated at 1/10,000.
Clinical description
PGSIRC encompasses different syndromes: the Overgrowth Syndromes, among which the Beckwith-Wiedemann syndrome with a 10% cumulative risk of cancer at 4 years of age mainly hepatoblastoma and Wilms' tumor, Costello syndrome with up to 10% risk of rhabdomyosarcoma, and other syndromes such as Simpson-Golabi-Behmel or Perlman (see these terms). Some other genetic rare diseases associated with an increased risk of cancer include tuberous sclerosis, Xeroderma pigmentosum or WAGR syndrome (see these terms). Because of this predisposition, it is essential to establish an early multidisciplinary follow-up protocol for each patient after the diagnosis. The clinical characteristics are specific to each syndrome.
Etiology
The etiology is specific to each syndrome. The genetic alterations associated with tumorigenesis can occur in the germ-line, resulting in hereditary predisposition to cancer, or have their monoclonal origin in somatic cells, resulting in sporadic tumors. The exact mechanism by which alterations in cancer-related genes (i.e. RAS genes) produce both congenital polymalformative abnormalities as well as sporadic tumors is still under investigation.
Genetic counseling
The inheritance pattern is specific to each syndrome. In most cases of familial cancer, those not associated with congenital abnormalities, tumor susceptibility is inherited in an autosomal dominant pattern. In cancer associated to genetic rare diseases characterized by congenital malformations, the overall tumor susceptibility is inherited mainly in an autosomal recessive pattern, regardless of the inheritance pattern associated with the specific rare disease.

                            Last update: 
                            February 2013


                            - Expert reviewer(s): 
                            Dr Víctor MARTÍNEZ-GLEZ
Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).
Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.
Polymicrogyria (ORPHA:35981)
A heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy.
Polymyositis (ORPHA:732)
A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.
Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG (ORPHA:639)
A demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome (ORPHA:171848)
This rare neurologic disease is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.
Epidemiology
The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin).
Clinical description
The disease manifests during childhood with pes cavus and tendoachilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal.
Etiology
The disease was mapped on chromosome 20 (20p11.21-q12).
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            October 2009
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome (ORPHA:2928)
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.
Polyrrhinia (ORPHA:141091)
A rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.
Polysyndactyly-cardiac malformation syndrome (ORPHA:2934)
A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.
Polysyndactyly (ORPHA:93338)
Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.
POMGNT1-related limb-girdle muscular dystrophy R15 (ORPHA:206564)
A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.
POMGNT2-related limb-girdle muscular dystrophy R24 (ORPHA:565899)
A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.
POMT1-related limb-girdle muscular dystrophy R11 (ORPHA:86812)
A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.
POMT2-related limb-girdle muscular dystrophy R14 (ORPHA:206559)
A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).