TaoMedAI/RareMedData huggingface dataset:
Paratyphoid fever (ORPHA:443227)
A rare form of salmonellosis caused by Salmonella enterica serovar Paratyphi A, B and C, characterized by typical symptoms of enteric fever including high fever, headache, abdominal pain and intestinal symptoms, dry cough, chills, and rashes, followed by a long period of recovery. The infection can be complicated by intestinal hemorrhage and perforation, as well as cardiac involvement, and may even be fatal. Transmission of the pathogen is via the fecal-oral route, with humans as the sole reservoir of infection.
PARC syndrome (ORPHA:2825)
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.
Parenteral nutrition-associated cholestasis (ORPHA:567983)
A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.
Parietal foramina with clavicular hypoplasia (ORPHA:251290)
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.
Paris-Trousseau thrombocytopenia (ORPHA:851)
Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.
Parkes Weber syndrome (ORPHA:90307)
A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present.
Parkinson-dementia complex of Guam (ORPHA:90020)
A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam.
Parkinsonian-pyramidal syndrome (ORPHA:171695)
Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).
Paroxysmal cold hemoglobinuria (ORPHA:90035)
Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.
Epidemiology
PCH is thought to account for at most 2-10% of cases of AIHA, whose annual incidence is estimated to be between 1/35,000-1/80,000 in North America and Western Europe.
Clinical description
Acute cases almost exclusively affect children and are often preceded by symptoms of infection. Chronic idiopathic cases also occur but are extremely rare. Acute cases of the disease are characterized by an abrupt onset with features of severe intravascular hemolysis including high fever, chills, back and/or leg pain. Other symptoms may include nausea, headache, vomiting and diarrhea. Typically hemoglobinuria occurs, producing dark red to black urine. Hemolysis can be severe and even life-threatening and results from exposure to cold, which may even be localized (eg from drinking cold water, from washing hands in cold water). Chronic forms of PCH are characterized by recurrent episodes of hemolysis precipitated by cold exposure.
Etiology
PCH is most often acute and occurs secondary to an infection, mainly upper respiratory, and the causative agent is often not identified. Late-stage or congenital syphilis was historically linked to cases of PCH in adulthood but this is becoming less and less common.
Diagnostic methods
Diagnosis is based on evidence of anemia linked to hemolysis, the presence of hemoglobin in urine, a positive result from the Donath-Landsteiner (DL) test and evidence of anti-P specificity of the IgG autoantibodies.
Differential diagnosis
The main differential diagnosis is acute cold AIHA (see this term) induced by an infection (for example Mycoplasma pneumoniae or the Epstein Barr virus) due to the presence of IgM autoantibodies which are cold agglutinins.
Management and treatment
Most cases of PCH are self-limited so treatment is usually symptomatic, including keeping the patient warm and red blood cell transfusion if necessary. Patients with few clinical symptoms and slight anemia may not require drug therapy. Corticosteroids and splenectomy are usually ineffective and should not be considered. In cases of life-threatening PCH, plasmapheresis can temporarily dampen the hemolysis. Some patients may respond to rituximab, although responses are usually short-lived. If syphilis is present, treatment with antibiotics generally eliminates the concurrent hemolysis.

                            Last update: 
                            August 2010


                            - Expert reviewer(s): 
                            Pr Marc MICHEL
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity (ORPHA:53583)
A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.
Paroxysmal extreme pain disorder (ORPHA:46348)
A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.
Epidemiology
This disorder is rare but about a dozen families have been described.
Clinical description
This condition presents at childbirth or in the first year of life with episodes of severe rectal and peri-rectal pain following bowel movements. This is often accompanied by reflex anoxic seizures (RAS). Finally, there can be a color change down one half of the body; either horizontally from the waist down or involving one half of the body as in the harlequin phenomenon. Adults experience similar attacks although they are rare. Triggers include defecation, tactile stimulation in the peri-rectal area, unexpected falls, sexual activity and vivid dreams. Older children and adult patients are affected by painful eye and jaw crises. Other symptoms that may accompany the pain include tonic nonepileptic seizures, tachycardia and bradycardia, bronchospasm, lacrimation, hypersalivation, and rhinorrhea. Patients may have any or all of these in different episodes. The pain is typically felt in the deep tissues and can start with an itch-like sensation, which becomes burning and escalates to sharp, lancinating or a stabbing sensation. Pain appears suddenly and can last from seconds to several minutes.
Etiology
This disorder is caused by mutations in the sodium channel gene SCN9A (2q24.3). The mutations confer a gain-of-function by impairing fast-activation of sodium channel NaV1.7, which is preferentially expressed in dorsal root ganglion and sympathetic ganglion neurons.
Diagnostic methods
Diagnosis is based on a careful history, a normal examination and normal electroencephalography (EEG), electrocardiogram (ECG) and nerve conduction studies. Screening for SCN9A mutations can provide confirmatory information.
Differential diagnosis
Differential diagnoses include primary erythermalgia and hyperekplexia.
Genetic counseling
Paroxysmal extreme pain disorder follows an autosomal dominant pattern of inheritance.
Management and treatment
In children it is important to manage the inevitable constipation that ensues from stool withholding secondary to fear of defecation. The frequency of painful episodes may be reduced by medications used in the management of chronic neuropathic pain disorders, namely anticonvulsants. Carbamazepine, an activity-dependent sodium channel blocker, is the most effective of these treatments.
Prognosis
With maturation, rectal pain may be accompanied by or replaced by periocular or perimandibular pain.

                            Last update: 
                            May 2019


                            - Expert reviewer(s): 
                            Pr Stephen G WAXMAN  - Dr Betsy R SCHULMAN
Paroxysmal hemicrania (ORPHA:157835)
A rare primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with ipsilateral cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.
Epidemiology
Paroxysmal hemicrania (PH) prevalence is unknown. There is a male-to-female ratio of 1:1.
Clinical description
The mean age of onset is 40 years (range 3-81 years). PH patients experience purely unilateral, severe to very severe attacks of head pain. The pain is often in the temporal, orbital or supraorbital region. The pain has an abrupt start and cessation and is accompanied by ipsilateral autonomic features, including lacrimation, conjunctival injection, rhinorrhoea, nasal congestion, periorbital oedema, facial flushing, miosis and/or ptosis. PH attacks last 2-30 minutes and occur more than 5 times a day up to 40 times a day with a mean of 11 a day. Patients can have unilateral photophobia and phonophobia ipsilateral to the side of the attack. Osmophobia, nausea or vomiting during the attacks has been reported. Although attacks are most usually spontaneous, attacks can be triggered by neck movements, or pressure over the neck or greater occipital nerves. PH can be classified as episodic or chronic, depending on the duration of pain-free period when untreated. Episodic paroxysmal hemicrania patients have bouts lasting from 7 days to 1 year and separated by pain-free periods more than 3 months, whereas in chronic patients the pain-free period is less than 3 months. As this is a primary headache disorder, patients have normal neurological tests.
Etiology
Etiology remains unclear.
Diagnostic methods
Diagnosis is based on clinical history and response to indomethacin. Patients with suspected paroxysmal hemicrania should undergo an oral indomethacin trial or placebo-controlled intramuscular indomethacin test. In adults, one could start with 25mg three times a day, titrating up to 75mg three times a day over the course of 3 weeks. With intramuscular indomethacin 100-200 mg could be used.
Differential diagnosis
Cluster headache is the main differential diagnosis, given the overlap in duration of the attacks. It is very important to differentiate PH from cluster headache, as treatment differs greatly.
Genetic counseling
Rare cases of familial PH have been reported.
Management and treatment
A complete response to indomethacin confirms the diagnosis of PH. Treatment with indomethacin with a median dose of 150 mg/day (ranging from 30-300mg/day) results in dramatic relief of the disabling symptoms caused by PH.
Prognosis
This is a debilitating headache condition if not accurately diagnosed and managed.

                            Last update: 
                            October 2019


                            - Expert reviewer(s): 
                            Pr Peter GOADSBY  - Dr Diana WEI
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome (ORPHA:401959)
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.
Partial hydatidiform mole (ORPHA:254693)
A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.
Partial pancreatic agenesis (ORPHA:2805)
Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.
Epidemiology
It is a rare disorder with only around 50 cases being reported in the literature so far.
Clinical description
The severity of the disease depends on the amount of functional pancreatic tissue present. Pancreatic agenesis is commonly associated with other malformations, in particular pancreaticobiliary duct anomalies, leading to acute or chronic pancreatitis, hyperglycemia (50% of cases), or, more rarely, polysplenia. In the majority of cases, patients are diagnosed after reporting abdominal pain. Agenesis of the dorsal pancreas usually manifests as diabetes.
Etiology
Pancreatic agenesis has been associated with mutations in the PDX1 gene (13q12.2), which encodes the insulin promoter factor-1 (IPF-1) transcription factor. In addition, missense mutations in the PTF1A gene (10p12.3) have been found to be responsible for the autosomal recessive syndrome of neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis (see this term).
Diagnostic methods
Diagnosis is made by imaging studies revealing the partial absence of the pancreas.
Differential diagnosis
The principle differential diagnosis is pancreas divisum.
Management and treatment
Management involves treatment of the diabetes and exocrine deficiency, when present.
Prognosis
The prognosis for patients is variable, depending on the quality of treatment received.

                            Last update: 
                            May 2009


                            - Expert reviewer(s): 
                            Pr Frédéric BARGY  - Pr Pierre BOUGNERES
Partial septate uterus (ORPHA:180129)
Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.
Partially involuting congenital hemangioma (ORPHA:458785)
A rare congenital hemangioma characterized by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital hemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumor virtually indistinguishable from non-involuting congenital hemangioma remains. This lesion grows proportionally with the child and does not regress.
Partington syndrome (ORPHA:94083)
Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (ARX) gene (Xp22.13). Transmission is X-linked recessive.
PASH syndrome (ORPHA:289478)
A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome (ORPHA:228190)
A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia.
Patent urachus (ORPHA:431341)
Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.
Paternal 20q13.2q13.3 microdeletion syndrome (ORPHA:261304)
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.
Epidemiology
It has been reported in 2 unrelated patients.
Clinical description
Facial dysmorphism includes high forehead, broad nasal bridge, thin upper lip, small chin and malformed ears. In addition, the patients presented with skin, iris and hair hypopigmentation and abnormal adipose tissue distribution.
Etiology
The syndrome is caused by an interstitial deletion of paternal origin at 20q13.2q13.3. In the 2 cases, the deletion was approximately 4.5Mb in size and encompassed the GNAS imprinted locus; the loss of the paternally expressed GNAS gene might account for the severe pre- and post-natal retardation and intractable feeding difficulties observed in the patients.

                            Last update: 
                            June 2011


                            - Expert reviewer(s): 
                            Dr Nicole MORICHON-DELVALLEZ
Paternal uniparental disomy of chromosome 1 (ORPHA:251004)
Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Paternal uniparental disomy of chromosome 13 (ORPHA:99324)
Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Paternal uniparental disomy of chromosome 20 (ORPHA:96194)
Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20.
Paternal uniparental disomy of chromosome 21 (ORPHA:96195)
Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Paternal uniparental disomy of chromosome 5 (ORPHA:96190)
Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Paternal uniparental disomy of chromosome 6 (ORPHA:96191)
Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
Paternal uniparental disomy of chromosome 7 (ORPHA:96192)
Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).
Paternal uniparental disomy of chromosome X (ORPHA:261524)
A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.
Patterson-Stevenson-Fontaine syndrome (ORPHA:2439)
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.
Epidemiology
It has been described in less of ten patients.
Clinical description
The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate, and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes.
Genetic counseling
The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity.

                            Last update: 
                            October 2010
Pauci-immune glomerulonephritis with ANCA (ORPHA:97563)
A form of pauci-immune glomerulonephritis characterized by a rapidly progressive glomerulonephritis in association with the presence of circulating antineutrophilic cytoplasmic antibodies (ANCA), mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO). Patients usually present with urinary abnormalities and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.
Pauci-immune glomerulonephritis without ANCA (ORPHA:97564)
A form of pauci-immune glomerulonephritis characterized by rapidly progressive glomerulonephritis and the absence of antineutrophilic cytoplasmic antibodies (ANCA). In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease, have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. The prognosis is generally poorer.