TaoMedAI/RareMedData huggingface dataset:
Progressive supranuclear palsy-corticobasal syndrome (ORPHA:240103)
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by a variable mixture of progressive asymmetric limb rigidity, apraxia, cortical sensory loss, alien limb, dystonia and bradykinesia that is unresponsive to levodopa. Postural instability and axial rigidity develop as the disease progresses. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the midfrontal and inferior parietal cortices.
Progressive supranuclear palsy-predominant parkinsonism syndrome (ORPHA:240085)
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome (ORPHA:240112)
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus.
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome (ORPHA:240094)
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by progressive freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types.
Proliferating trichilemmal cyst (ORPHA:492)
A rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.
Prominent glabella-microcephaly-hypogenitalism syndrome (ORPHA:2083)
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.
Properdin deficiency (ORPHA:2966)
Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.
Propylthiouracil embryofetopathy (ORPHA:485358)
Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).
Proton-pump inhibitor-responsive esophageal eosinophilia (ORPHA:411696)
Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.
Proximal 16p11.2 microduplication syndrome (ORPHA:370079)
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.
Proximal myopathy with focal depletion of mitochondria (ORPHA:521305)
A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.
Proximal myotonic myopathy (ORPHA:606)
A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
Epidemiology
Prevalence estimates of around 1/100,000 in Germany and 1/600,000 in the United Kingdom have been suggested. Most cases have been reported in individuals of European origin (mainly in Eastern Europe with a founder effect).
Clinical description
The clinical presentation is marked by significant variability as is the age of onset (juvenile to late adulthood). The primary manifestations include muscle weakness (with early involvement of neck flexors or finger flexors, later involving hip girdle muscles), myotonia, and possibly severe fluctuating or episodic muscle pain, and stiffness. Cataracts, hypogonadism or testicular failure in males, insulin insensitivity, excessive sweating, cognitive abnormalities are rare features. Cardiac disorders are rare and may include conduction abnormalities (atrioventricular and bundle branch block) and cardiac arrhythmias. Gastrointestinal complications are common and can include constipation, dysphagia, and abdominal pain. Increased risk of cancer involving colon, brain and pancreas has been reported. The phenotype may be particularly mild in a large number of affected individuals.
Etiology
The disease is caused by a CCTG expansion in the first intron of the cellular nucleic acid binding protein gene (CNBP; 3q21). Mutant alleles have 75 to 11,000 uninterrupted CCTG repeats. The pathogenesis is poorly understood.
Diagnostic methods
There may be considerable difficulty and delay in the diagnosis due to the wide clinical spectrum and non-specific manifestations. The diagnosis is based on molecular genetic testing.
Differential diagnosis
There are several overlapping features with Steinert myotonic dystrophy; whilst the diseases are similar, they are genetically distinct and have different courses and management requirements. The main difference is the absence of congenital form, which is seen in Steinert myotonic dystrophy.
Antenatal diagnosis
Prenatal diagnosis is possible in affected families with an index patient.
Genetic counseling
The pattern of inheritance is autosomal dominant. Genetic counselling should be provided to affected families. There is a 50% risk of disease transmission to offspring from an affected parent. A parent with intermediate CCTG repeat expansion is considered to have a premutation and thus there is a risk of transmitting the disorder to their offspring.
Management and treatment
Management primarily involves monitoring of cataracts, insulin metabolism, and cardiac conduction.
Prognosis
The prognosis is generally good with no impact on life expectancy.

                            Last update: 
                            September 2020


                            - Expert reviewer(s): 
                            Pr Giovanni MEOLA
Proximal symphalangism (ORPHA:3250)
A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
PrP systemic amyloidosis (ORPHA:397606)
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.
PRUNE1-related neurological syndrome (ORPHA:544469)
A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.
Pruritic urticarial papules and plaques of pregnancy (ORPHA:64745)
A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy, although presentation in the postpartum period, which may also feature other types of skin lesions, has been described in some cases. The symptoms generally resolve within few weeks.
Pseudo-Meigs syndrome (ORPHA:314459)
A rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.
Pseudo-von Willebrand disease (ORPHA:52530)
A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.
Pseudoachondroplasia (ORPHA:750)
Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.
Epidemiology
Prevalence is estimated at around 1/60,000.
Clinical description
The disorder is usually discovered during the second year of life with the onset of slow growth and walking difficulties. The short stature becomes more prominent with age and the hands and feet appear short and wide. Joint laxity is a general feature, but predominantly affects the hands. Defective epiphyseal growth causes early arthrosis. The limb deformation is caused by metaphyseal lesions.
Etiology
The disorder is caused by small mutations or deletions in the COMP gene (19p13.1) coding for the cartilage oligomeric matrix protein.
Diagnostic methods
Diagnosis is made on the basis of epiphyseal and metaphyseal anomalies detected on radiographs during the second year of life.
Differential diagnosis
The principle differential diagnosis is achondroplasia (see this term), but the craniofacial anomalies present in this disorder are absent in patients with pseudoachondroplasia and radiographic findings differ significantly. Forms of multiple epiphyseal dysplasia (see these terms) may also be included in the differential diagnosis.
Antenatal diagnosis
Prenatal diagnosis is feasible if the mutation has been detected in an affected parent.
Genetic counseling
Transmission is autosomal dominant, but most isolated cases are due to de novo mutations. Genetic counseling may be proposed and the recurrence risk is 50%.
Management and treatment
Treatment is based on physiotherapy, management of the spinal deformation and corrective orthopedic surgery. Intensive physical activity should be avoided. The limb deformation should be corrected surgically at the end of the growth period.
Prognosis
The final height prognosis is variable but the short stature may be moderately severe.

                            Last update: 
                            November 2008


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Pseudoaminopterin syndrome (ORPHA:221120)
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.
Pseudodiastrophic dysplasia (ORPHA:85174)
Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.
Pseudohypoparathyroidism type 1C (ORPHA:79444)
Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).
Epidemiology
The prevalence is unknown.
Clinical description
Clinical manifestations of PHP1c are similar to those seen in pseudohypoparathyroidism type 1a (PHP1a; see this term). They display the symptoms and signs of AHO (brachydactyly (most often the shortening of the 3, 4 and 5th metacarpals), rounded face, short stature, central obesity, subcutaneous ossifications and variable development delay) as well as PTH-resistance leading to hypocalcemia and hyperphosphatemia, and resistance towards TSH and, sometimes, other hormones.
Etiology
The exact etiology is unknown as mutations in the GNAS gene (20q13) are only rarely found. Other components of the cAMP-dependent signaling pathway, such as adenylyl cyclase, inhibitory G proteins, or phosphodiesterases might be impaired.
Genetic counseling
In familial cases the disease is inherited autosomal dominantly and genetic counseling is possible.

                            Last update: 
                            October 2014


                            - Expert reviewer(s): 
                            Pr Giovanna MANTOVANI
Pseudohypoparathyroidism type 2 (ORPHA:94090)
Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.
Epidemiology
The prevalence is unknown.
Clinical description
The clinical manifestations of PHP-2 have been poorly characterized but are similar to those seen in pseudohypoparathyroidism type1b (PHP-1b; see this term). Patients present with symptoms related to low levels of calcium including: seizures, tetany (including muscle twitches and hand and foot spasms), numbness cataracts, and dental problems. Unlike PHP-1b, those with PHP-2 demonstrate a normal urinary cAMP response.
Etiology
To date, no specific genetic alteration responsible for this disorder has been detected. It has been hypothesized that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.

                            Last update: 
                            October 2014


                            - Expert reviewer(s): 
                            Pr Giovanna MANTOVANI
Pseudoleprechaunism syndrome, Patterson type (ORPHA:2976)
Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.
Pseudomyxoma peritonei (ORPHA:26790)
Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.
Epidemiology
Annual incidence is estimated at 1/1,000,000 with female predominance.
Clinical description
The disease is usually diagnosed after the age of 40. In 30 to 50% of cases, patients present with progressive abdominal distension (so-called ``jelly belly''). Diagnosis may follow discovery of an ovarian mass in women or recent development of inguinal hernia, appendicitis or intestinal occlusion. Other less common signs include abdominal pain, weight loss, urinary symptoms, constipation, vomiting, and dyspnea.
Etiology
In 90% of cases, the primary lesion is an appendiceal mucinous tumor, but ovarian mucinous tumors have been reported (7%) and, more rarely, mucinous tumors of the colon, stomach, pancreas, and urachus.
Diagnostic methods
The diagnosis is based on chest-abdominal-pelvic computed tomography (CAP-CT) findings (revealing the characteristic compartmentalized distribution pattern of mucinous ascites) and on pathology (performed by two experts), while tumor markers (carcinoembryonic antigen and CA19-9) are relatively non-specific.
Differential diagnosis
The differential diagnosis includes secondary peritoneal carcinomatoses and other rare peritoneal tumors.
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. Nonetheless, the best curative option appears to be complete cytoreductive surgery (visceral resections and peritonectomy procedures) combined with hyperthermic intraperitoneal chemotherapy (HIPEC) (off-label use), sometimes followed by intravenous chemotherapy (off-label use) which can only be considered in young patients with good general status.
Prognosis
Pseudomyxoma peritonei is slowly progressive but recurrence after complete tumor removal may occur. Following combined treatment (complete cytoreductive surgery and HIPEC), the 5-year survival rate reaches 70% for non-aggressive peritoneal pseudomyxoma in patients treated in a specialized center.

                            Last update: 
                            March 2011


                            - Expert reviewer(s): 
                            Pr François-Noël GILLY  - Pr Olivier GLEHEN
Pseudopelade of Brocq (ORPHA:129)
Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.
Pseudoprogeria syndrome (ORPHA:2985)
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.