TaoMedAI/RareMedData huggingface dataset:
Persistent left superior vena cava connecting through coronary sinus to left-sided atrium (ORPHA:99109)
A rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains through the left coronary sinus to the left atrium. Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatriatum) and risk of paradoxical embolism may be associated.
Persistent left superior vena cava connecting to the roof of left-sided atrium (ORPHA:99111)
A rare congenital anomaly of superior vena cava characterized by a persistent left superior vena cava that drains into the left atrium through a direct connection to its roof, creating a right-to-left shunt. Patients are at risk of developing chronic hypoxia, decreased exercise tolerance, cyanosis, embolic cerebrovascular events, and heart failure.
Persistent Müllerian duct syndrome (ORPHA:2856)
Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.
Epidemiology
The exact prevalence in the general population is unknown.
Clinical description
All affected subjects are, by definition, genotypically (46, XY) and phenotypically (normally virilized external genitalia) male. Index symptoms are cryptorchidism or inguinal hernia. Testes are normally differentiated and, in the absence of long-standing cryptorchidism, usually contain germ cells. However, affected males may be infertile as the testes are frequently not properly connected to male excretory ducts due to aplasia of the epididymis and the upper part of the vas deferens. Testosterone levels are usually normal, unless testicular degeneration has occurred.
Etiology
Genetic analysis of more than 100 families has shown that around 45% of cases are caused by mutations in the anti-Müllerian hormone gene (AMH; 19p13.3). Mutations in the gene encoding the AMH receptor (anti-Müllerian hormone receptor, type II, AMHR2; 12q13) are responsible for a further 40% of cases, with around half of these patients carrying the same mutation (a 27-base pair deletion in exon 10). Ovarian function appears to be normal in female relatives of affected males, however, further studies are required to determine whether female homozygous carriers of AMH or AMHR2 mutations are subject to early menopause.
Diagnostic methods
PMDS is usually discovered incidentally during surgery for undescended testes or inguinal hernia in boys with normal external genitalia. A specific ELISA test can be used to determine AMH levels in the serum and is a useful screening method to guide the molecular diagnosis.
Genetic counseling
PMDS is transmitted in an autosomal recessive manner.
Management and treatment
Treatment is surgical and consists of replacement of the gonads within the scrotum, requiring careful dissection of the Müllerian derivatives. Total hysterectomy is not recommended because of the risk to the vas deferens.
Prognosis
Early diagnosis and treatment may decrease the risks of degeneration and malignancy of the testes associated with longstanding cryptorchidism. Sexual function is normal, but fertility is compromised, even in treated patients. Hemospermia has been observed in older patients, but otherwise the presence of Müllerian derivatives is not harmful.

                            Last update: 
                            January 2009


                            - Expert reviewer(s): 
                            Dr Jean-Yves PICARD
Persistent placoid maculopathy (ORPHA:97341)
Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.
Persistent polyclonal B-cell lymphocytosis (ORPHA:300324)
Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.
Peters anomaly (ORPHA:708)
Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.
Peters plus syndrome (ORPHA:709)
Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.
Pfeiffer-Palm-Teller syndrome (ORPHA:2871)
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.
PGM1-CDG (ORPHA:319646)
A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty.
PGM3-CDG (ORPHA:443811)
A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.
Phacoanaphylactic uveitis (ORPHA:209959)
A rare ophthalmic disorder characterized by a zonal granulomatous inflammatory reaction centered around the lens secondary to its traumatic rupture. Signs and symptoms include photophobia, ocular irritation or pain, blurred vision, redness, mutton-fat keratic precipitates, posterior synechiae, and sometimes hypopyon. Intraocular pressure may be elevated due to blockage of the trabecular meshwork by inflammatory cells or lens material.
Phakomatosis pigmentokeratotica (ORPHA:2874)
A rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.
Phakomatosis pigmentovascularis (ORPHA:2875)
A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics.
Phalangeal microgeodic syndrome (ORPHA:352636)
A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome (ORPHA:231426)
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is a rare, acquired peripheral neuropathy disease characterized by rapidly progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia, in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated.
PHAVER syndrome (ORPHA:2876)
A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
Phenobarbital embryopathy (ORPHA:1919)
A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, ﬁnger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.
Phenylketonuria (ORPHA:716)
A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability.
Epidemiology
The prevalence of phenylketonuria (PKU) shows considerable geographic variation. It is estimated to be 1/10,000 live births in Europe with a higher rate in some countries (Ireland, Italy). Prevalence is particularly high in Turkey: 1/4,000 live births. PKU is far rarer in the Finnish, African and Japanese populations.
Clinical description
In the absence of neonatal diagnosis, symptoms develop within a few months of birth, may be very mild to severe and include gradual developmental delay, stunted growth, microcephaly, seizures, tremors, eczema, vomiting, and musty odor. Untreated patients subsequently develop intellectual disability, behavioral disorders (hyperactivity) and motor disorders. Patients often have fair coloring as a result of tyrosine deficiency. The most common form of the condition is known as classical phenylketonuria and is characterized by severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA).
Etiology
PKU is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Non-PAH variants have been reported to cause a disorder known as hyperphenylalaninemia due to BH4 deficiency. Variant frequency varies among different ethnic groups. Lower levels or absence of the phenylalanine hydroxylase enzyme underlie the clinical manifestations, as a result of toxic accumulation of phenylalanine in the blood and brain.
Diagnostic methods
The disorder is usually diagnosed through neonatal screening programs.
Differential diagnosis
PKU should be distinguished from BH4 deficiency.
Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% risk of having an affected child at each pregnancy.
Management and treatment
The mainstay of treatment is a low-phenylalanine diet and amino acids mixture for the forms that require treatment. According to the European guidelines for the management of PKU, the recommended maintenance level is usually between 120 and 360 micromol/L in newborns, with treatment considered essential in older patients with levels above 600 micromol/L.
Prognosis
Prognosis is variable, but favorable if diagnosed early and treated properly.

                            Last update: 
                            December 2020


                            - Expert reviewer(s): 
                            Pr Nenad BLAU
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.
Phocomelia, Schinzel type (ORPHA:2879)
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected.
Phosphoenolpyruvate carboxykinase deficiency (ORPHA:2880)
A rare gluconeogenesis disorder that results from impairment in the enzyme phosphoenolpyruvate carboxykinase, and comprised of cytosolic and mitochondrial forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.
Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
A rare form of serine deficiency syndrome characterized clinically by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
Photosensitive epilepsy (ORPHA:166409)
A rare reflex epilepsy characterized by seizures and photoparoxysmal responses triggered by flashing or flickering lights, or patterns. Exact nature of the stimulus and seizure type are variable. The disorder mainly presents in childhood and adolescence and can either occur as an isolated condition, or be associated to other epilepsy syndromes.
Phyllodes tumor of the breast (ORPHA:180261)
A rare fibroepithelial tumor of the breast characterized by a painless, circumscribed, firm mass potentially arising in any part of the breast, histologically showing a prominent intracanalicular growth pattern with leaf-like stromal fronds, capped by luminal epithelial and myoepithelial cell layers, accompanied by stromal hypercellularity. The tumor may be benign, borderline, or malignant.
Phyllodes tumor of the prostate (ORPHA:498228)
A rare urogenital tumor characterized by stromal and epithelial components forming cysts lined by hyperplastic epithelium in a cellular or sarcomatoid stroma. The tumors may be clinically benign or malignant and tend to recur after transurethral resection. Metastatic spread is to lungs, bone, and liver. Patients may present with obstructive voiding symptoms, dysuria, hematuria, urinary retention, or a palpable abdominal mass. The prostate is palpably enlarged but feels soft and spongy.
Piebald trait-neurologic defects syndrome (ORPHA:2885)
Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.
Piebaldism (ORPHA:2884)
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
Pierpont syndrome (ORPHA:487825)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly.
Pierre Robin syndrome-faciodigital anomaly syndrome (ORPHA:2888)
A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (ORPHA:568062)
A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.
Pigeon-breeder lung disease (ORPHA:99908)
Pigeon-breeder's lung disease, also called bird fanciers lung, is a hypersensitivity pneumonitis (see this term) induced by inhalation of bird derived-proteins. Presentation can be acute with chills, cough, fever, shortness of breath, chest tightness usually resolving within 24 h after cessation of antigen exposure, sub-acute with cough and dyspnea over several days to weeks, whereas chronic form results in breathlessness, coughing, lack of appetite and weight loss.
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome (ORPHA:447961)
A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.
Pigmented paravenous retinochoroidal atrophy (ORPHA:251295)
Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.
Pili bifurcati (ORPHA:720)
An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.
Epidemiology
Prevalence is unknown, only a few cases have been reported.
Clinical description
Patients generally present with diffuse alopecia which can be more apparent in some areas. Hypopigmentation can be observed. This anomaly of the hair shaft occurs in normal hair, pili canaliculi, or monilethrix (see this term) and has been associated with the mosaic trisomy 8 syndrome (see this term), pseudomonilethrix type II or protein deficiency states. It can also be secondary to ulcerative colitis (see this term) and extensive bowel resection.
Etiology
Pili bifurcati is caused by a transient duplication of the papilla's tip during the anagen phase, leading to the transitory production a two complete shafts, in the same follicular matrix, that emerge through a single pilary canal. When the two papilla tips fuse, both parallel branches form a single shaft again. When the transient duplication of the papilla tip occurs repetitively during the anagen phase, a serie of bifurcation-fusion can be observed along the shaft. This situation is called pili multi-bifurcati. As a duplicated papilla tip can split again, a doubly bifurcated shaft may be observed: pili bi-bifurcati.
Diagnostic methods
Diagnosis is based on the trichogram analysis, which could show a high prevalence of dystrophic anagen hairs presenting the characteristic bifurcation(s), reduction in the shaft caliber and pigmentation and telogen effluvium.
Management and treatment
Management could include a protein complementation diet; mechanical procedures for care of the hair must be avoided.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Pr Francisco CAMACHO-MARTÍNEZ
Pili gemini (ORPHA:79492)
Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.
Epidemiology
The prevalence of this anomaly is unknown but might be very high, so much so that it could be supposed to be an evolutional trait.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Pr Francisco CAMACHO-MARTÍNEZ
Pili torti-developmental delay-neurological abnormalities syndrome (ORPHA:2891)
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.