TaoMedAI/RareMedData huggingface dataset:
Pseudopseudohypoparathyroidism (ORPHA:79445)
Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).
Epidemiology
Prevalence is unknown but series of patients usually include one patient with pseudo-PHP for every two patients with PHP 1a (see this term).
Clinical description
Due to the absence of hormone resistance, the age at diagnosis varies from birth to late adulthood. Patients display various features of AHO including short stature which develops over time, absence of pubertal growth spurt (mean final height is between -2 and -3 SD), rounded face, brachydactyly, absence of widening of the lumbar spine, and ectopic ossifications of soft-tissues, which may develop spontaneously or after trauma. The spectrum of the ectopic ossifications ranges from absent to extensive and may generate severe pain. Patients with extensive ectopic ossifications may also be considered as having progressive osseous heteroplasia (POH; see this term). Cognitive impairment is present in only 10% of the patients. Unlike in PHP 1a, obesity is not constant and, when present, is only moderate.
Etiology
The disease is caused by paternally inherited heterozygous molecular defects in the GNAS gene (20q13) encoding the alpha sub-unit of the stimulatory G protein (Gs alpha), which results in a reduction in the expressioctivity of Gs alpha. In families in which PHP 1a and pseudo-PHP co-exist, mutations in the gene can be detected in all affected members.
Diagnostic methods
Diagnosis is based on the presence of features of AHO and the exclusion of other forms of PHP (by measuring serum calcium, phosphate and PTH). X-rays show typical shortening of the fourth metacarpal and advanced bone age. All metacarpals and metatarsals may be affected. Molecular genetic testing identifying a mutation in the GNAS gene confirms diagnosis.
Differential diagnosis
The differential diagnosis includes PHP 1a, PHP 1c and 2q37 microdeletion syndrome (see these terms).
Antenatal diagnosis
Antenatal diagnosis is possible when a disease causing mutation in the family is known.
Genetic counseling
Transmission is autosomal dominant with parental imprinting. Pseudo-PHP most frequently occurs in relatives of patients with PHP 1a, but may present in families without PHP as an isolated defect. Paternal inheritance of the mutation is responsible for pseudo-PHP. Genetic counseling is possible.
Management and treatment
There are no specific treatments for the various manifestations of AHO, although subcutaneous ossifications may be surgically removed when particularly large or causing pain/discomfort.
Prognosis
Pseudo-PHP is not life threatening but quality of life can be affected in those with severe ectopic ossification.

                            Last update: 
                            October 2014


                            - Expert reviewer(s): 
                            Pr Giovanna MANTOVANI
Pseudotyphus of California (ORPHA:83316)
Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis  infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain). Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.
Pseudounicornuate uterus (ORPHA:180079)
A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.
Pseudoxanthoma elasticum-like papillary dermal elastolysis (ORPHA:228293)
Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (ORPHA:436274)
A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.
Pseudoxanthomatous diffuse cutaneous mastocytosis (ORPHA:280794)
Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.
Epidemiology
Only a small number of cases (around 10) of PDCM have been reported in the literature to date.
Clinical description
Onset most commonly occurs in early infancy with small vesicles and pseudoxanthomatous lesions developing after puberty.
Etiology
Mutations in the KIT gene (4q11-q12) have been detected in patients with DCM.

                            Last update: 
                            June 2013


                            - Expert reviewer(s): 
                            Pr A.P. [Arnold] ORANJE
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome (ORPHA:505242)
A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia.
PTEN hamartoma tumor syndrome (ORPHA:306498)
A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.
Pterin-4 alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.
Pterygium colli-intellectual disability-digital anomalies syndrome (ORPHA:2988)
A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.
Ptosis-strabismus-ectopic pupils syndrome (ORPHA:2999)
A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome (ORPHA:228396)
A rare opthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telechantus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears.
Ptosis-vocal cord paralysis syndrome (ORPHA:2997)
Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.
Pulmonary agenesis (ORPHA:984)
A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.
Pulmonary alveolar microlithiasis (ORPHA:60025)
A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices.
Pulmonary arterial hypertension associated with another disease (ORPHA:275791)
Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.
Pulmonary arterial hypertension associated with chronic hemolytic anemia (ORPHA:275828)
Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.
Pulmonary arterial hypertension associated with congenital heart disease (ORPHA:275803)
Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.
Pulmonary arterial hypertension associated with connective tissue disease (ORPHA:275798)
A form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.
Pulmonary arterial hypertension associated with HIV infection (ORPHA:275808)
A form of pulmonary arterial hypertension characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.
Pulmonary arterial hypertension associated with portal hypertension (ORPHA:275813)
Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.
Pulmonary arterial hypertension associated with schistosomiasis (ORPHA:275823)
Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term).
Pulmonary artery coming from patent ductus arteriosus (ORPHA:99049)
Pulmonary artery coming from patent ductus arteriosus is a rare, congenital, non-syndromic heart malformation characterized by the presence of a single (or a double) patent ductus arteriosus which associates one or both pulmonary arteries originating from it. Manifestations are variable, frequently presenting with neonatal cyanosis, severe progressive hypoxia, persistent pulmonary hypertension, increased susceptibility to pulmonary infections, and thoracic asymmetry resulting from asymmetric lung volumes.
Pulmonary artery hypoplasia (ORPHA:99083)
A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, including shortness of breath, recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.
Pulmonary atresia with ventricular septal defect (ORPHA:1207)
Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).
Pulmonary atresia-intact ventricular septum syndrome (ORPHA:1208)
A rare cardiac malformation characterized by congenital either membranous or long segment muscular atresia of the right ventricular outflow tract in the absence of communication at the level of ventricles. The spectrum ranges from simple membranous pulmonary atresia with normal-appearing right ventricle (RV) to hypoplastic RV with abnormal connections between the RV and coronary arteries. Major presenting symptoms are cyanosis and desaturation.
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome (ORPHA:210136)
A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.
Pulmonary interstitial glycogenosis (ORPHA:217557)
Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term).
Epidemiology
Very few cases have been described to date but there appears to be male predominance.
Clinical description
Neonates present with respiratory distress syndrome shortly after birth. The characteristic histological feature of PIG is the accumulation of monoparticulate glycogen in interstitial cells on lung biopsy.
Etiology
The disease is thought to be the result of a maturation defect of interstitial cells leading to glycogen accumulation within the cytoplasm.
Prognosis
Prognosis is dependent on the type of lung growth abnormalities associated with the infiltrative disease.

                            Last update: 
                            January 2011


                            - Expert reviewer(s): 
                            Pr Annick CLEMENT
Pulmonary nodular lymphoid hyperplasia (ORPHA:60026)
Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.
Pulmonary non-tuberculous mycobacterial infection (ORPHA:411703)
A rare bacterial infectious disease caused by non-tuberculous mycobacteria (including Mycobacterium avium complex, Mycobacterium kansasii, or Mycobacterium xenopi, among others), characterized by chronic pulmonary disease with symptoms like chronic cough (with or without sputum production), chest pain, and weight loss. Predisposing factors are preexisting lung conditions, neoplasms, immunosuppression, or thoracic skeletal abnormalities.
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome (ORPHA:99048)
A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present.
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome (ORPHA:101206)
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.
Pulmonary valve agenesis (ORPHA:982)
Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.
PUM1-associated developmental disability-ataxia-seizure syndrome (ORPHA:589515)
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities.
Punctate acrokeratoderma freckle-like pigmentation (ORPHA:99710)
A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993.
Punctate inner choroidopathy (ORPHA:580951)
A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.