TaoMedAI/RareMedData huggingface dataset:
Idiopathic giant cell myocarditis (ORPHA:329874)
A rare cardiomyopathy characterized by progressive myocarditis with diffuse infiltration of cardiac tissue by lymphocytes, macrophages, multinuclear giant cells, and myocardial necrosis. Clinical presentation includes rapidly progressive heart failure, ventricular arrhythmias, complete heart block, and sudden cardiac death. Some patients have associated autoimmune disorders.
Idiopathic hemiconvulsion-hemiplegia syndrome (ORPHA:86908)
A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.
Idiopathic hypereosinophilic syndrome (ORPHA:3260)
A rare hematologic disease characterized by eosinophilia without evidence of clonality persisting for at least six months, for which no underlying cause can be identified. The condition is associated with signs of organ damage and dysfunction. Clinical manifestations are highly variable, depending on the organ systems involved, and include rapidly developing, life-threatening cardiovascular or neurological complications.
Idiopathic intracranial hypertension (ORPHA:238624)
Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.
Idiopathic isolated micropenis (ORPHA:95707)
A rare, non-syndromic, urogenital tract malformation characterized by an anatomically normal penis which has a stretched penile length of less than 2.5 SD for age, in the absence of any other abnormalities and with no known cause.
Idiopathic juvenile osteoporosis (ORPHA:85193)
Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.
Epidemiology
The exact prevalence is unknown but several hundreds of cases have been reported in the literature so far.
Clinical description
Onset usually occurs in the prepubertal period, between 8 and 12 years of age. The first sign of IJO is usually pain in the lower back, hips and feet. Knee and ankle pain, kyphosis, loss of height and a sunken chest may also be present. Low bone mineral density, vertebral collapse and metaphyseal compression fractures of the long bones are common.
Etiology
The etiology of idiopathic juvenile osteoporosis remains unknown.
Diagnostic methods
Diagnosis is based on clinical presentation, skeletal X-rays and bone density tests (dual-energy X-ray absorptiometry, dual photon absorptiometry and quantitative computed tomography).
Differential diagnosis
Osteogenesis imperfecta (see this term) is the main differential diagnosis.
Management and treatment
Management is aimed at protecting the spine and other bones from fracture. Physical therapy and exercise (avoiding weight-bearing activities), and other supportive measures are mandatory. There is no established treatment strategy. Treatments with calcium and/or vitamin D, fluoride, calcitonin, and bisphosphonates (in severe, long-lasting cases) have been reported with unequivocal efficacy.
Prognosis
The disease is self-limiting with spontaneous resolution after the onset of puberty. Rarely, in more severe cases, permanent disability (kyphoscoliosis and rib deformity) can develop.

                            Last update: 
                            April 2009


                            - Expert reviewer(s): 
                            Pr Pierre QUARTIER DIT MAIRE
Idiopathic linear interstitial keratitis (ORPHA:314017)
Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.
Idiopathic localized lipodystrophy (ORPHA:90158)
Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).
Idiopathic macular telangiectasia type 1 (ORPHA:353344)
Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.
Idiopathic macular telangiectasia type 3 (ORPHA:353351)
Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.
Idiopathic malabsorption due to bile acid synthesis defects (ORPHA:84065)
A dirsorder that is due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.
Idiopathic neonatal atrial flutter (ORPHA:45452)
Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.
Epidemiology
AFL is rare with an approximate incidence of around 1/50,000 live births in Europe.
Clinical description
AFL has a neonatal onset and the majority (72%) of patients present with symptoms within the first 48 h of life. Onset during the fetal period may be associated with hydrops fetalis and death. AFL manifests with tachycardia and congestive heart failure. AFL is sustained although conversion from atrial flutter to sinus rhythm may occur spontaneously (<24 hours). Some patients are asymptomatic and tachycardia may be noted on routine examination and monitoring.
Etiology
The etiology of AFL is unknown but immaturity of the myocardium and the high pressure in the right atrium during the perinatal period may be factors that favor the appearance of atrial re-entry.
Diagnostic methods
The diagnosis of AFL relies on surface electrocardiogram (ECG) which usually shows an atrial rate of around 440 beats/min, most often with 2:1 atrioventricular conduction (sometimes with variable AV conduction and an irregular ventricular rate of 125-280 beats/min), and saw tooth P waves in leads II, III, and aVF. The echocardiogram may show impaired ventricular function after prolonged tachycardia.
Differential diagnosis
Differential diagnosis includes multifocal atrial tachycardia (see this term) and other forms of supraventricular tachycardia.
Antenatal diagnosis
AFL may be diagnosed prenatally by fetal echocardiogram which will show an atrial rate of over 400 per minute and most often 2:1 AV conduction to give a ventricular rate of over 200 per minute.
Management and treatment
The first aim of treatment is the restoration of sinus rhythm. This is most easily achieved by transoesophageal overdrive pacing or synchronised low energy DC cardioversion using around 0.5-1 J/kg. The response to drug treatment is variable and unpredictable. Recurrence of atrial flutter in neonates is rare and prophylactic medication is usually not required. Sotalol is said to be an effective agent in the treatment of AFL in the fetus as it has excellent transplacental passage.
Prognosis
In the absence of additional arrhythmias, infants with AFL have an excellent prognosis once in sinus rhythm, with a low risk of recurrence, and chronic anti arrhythmic therapy is unlikely to be necessary.

                            Last update: 
                            November 2013


                            - Expert reviewer(s): 
                            Dr Christopher WREN
Idiopathic nephrotic syndrome (ORPHA:357502)
A rare primary glomerular group of diseases characterized by the triad of edema, massive, or nephrotic-range, proteinuria and hypoalbuminemia, for which there is no known cause. Depending on response to treatment, disease is distinguished into steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS), with the latter being further divided, depending on occurrence, into familial or sporadic forms.
Idiopathic non-lupus full-house nephropathy (ORPHA:567544)
A rare idiopathic glomerular clinical syndrome characterized by diffuse renal lesions that are indistinguishable from the lesions observed in systemic lupus erythematosus (SLE) in the absence of circulating autoantibodies and other systemic features necessary to meet the classification criteria for SLE. Patients may present with nephrotic syndrome, abnormal urinary sediment, acute renal insufficiency, progressive glomerulonephritis, and hypertension. Some patients have been reported to develop a progression to SLE over time.
Idiopathic optic perineuritis (ORPHA:499107)
A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. The condition is usually unilateral.
Idiopathic panuveitis (ORPHA:280921)
Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.
Idiopathic peliosis hepatis (ORPHA:480524)
A rare vascular liver disease characterized by widespread or focal cystic dilatation of sinusoidal blood-filled spaces of the liver without any known cause. Lesions can vary in diameter between few millimeters and several centimeters. The condition may remain asymptomatic or manifest with complications including rupture and intraperitoneal hemorrhage, hepatomegaly, portal hypertension, cholestasis, and liver failure.
Idiopathic phalangeal acro-osteolysis (ORPHA:444316)
A rare bone disease characterized by bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies).
Idiopathic pleuroparenchymal fibroelastosis (ORPHA:494428)
A rare idiopathic interstitial pneumonia characterized by prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnea, and recurrent respiratory infections. Pneumothorax is a frequently reported complication. Pulmonary function test reveals a restrictive pattern and reduced diffusing capacity. Computed tomography shows pleural thickening with signs of fibrosis (traction bronchiectasis, architectural distortion, and loss of volume), and reticulation.
Idiopathic posterior uveitis (ORPHA:280917)
Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.
Idiopathic pulmonary arterial hypertension (ORPHA:275766)
Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.
Epidemiology
Prevalence of PAH, in all of its forms, is estimated at around 1/67,000. IPAH is one of the most commonly diagnosed forms.
Clinical description
Clinical manifestations of IPAH are similar to other forms of PAH regardless of its etiology. IPAH develop in adults and in rare cases in children; women are twice as likely as men to be affected. The diagnosis is often made in patients in their mid-forties. Initial symptoms include dyspnea, fatigue, syncope, chest pain, palpitations and pedal edema. Precordial signs include loud and palpable second heart sound, right ventricular heave, pulmonary ejection click and murmurs of pulmonary and tricuspid regurgitation. 70% of patients present heart failure (classed as New York heart association functional classification (NYHA FC) III or IV). More rarely, clubbing of digits and Raynaud phenomenon may be observed. Hemoptysis has also been reported.
Etiology
IPAH is caused by vascular remodeling of small pulmonary arteries due to unknown causes. Mutations in PAH predisposing genes are identified in about 15% to 20% of PAH patients initially considered to have an idiopathic form of the disease. IPAH patients carriers of a mutation in PAH predisposing gene have to be reclassified in ''heritable PAH'' (see this term). The main genetic risk factor of PAH is mutations in BMPR2gene (2q33). Mutations in ACVRL1>(12q13), ENG>(9q34), KCNK3 >(2p23),CAV1 (7q31), TBX4(17q21) have been identified in few cases.
Genetic counseling
Genetic counseling has to been proposed to all IPAH patients and mutations in PAH predisposing genes have to be searched. All PAH predisposing gene are transmitted in an autosomal dominant manner with an incomplete penetrance. In the cases of BMPR2 mutations, the penetrance is estimated to be 42% in female mutation carriers and 14% in male mutation carriers.

                            Last update: 
                            January 2015


                            - Expert reviewer(s): 
                            Dr Barbara GIRERD  - Pr David MONTANI
Idiopathic pulmonary artery dilatation (ORPHA:1676)
Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.
Idiopathic pulmonary hemosiderosis (ORPHA:99931)
Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.
Idiopathic recurrent pericarditis (ORPHA:251307)
Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.
Idiopathic recurrent stupor (ORPHA:276174)
A rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.
Idiopathic spontaneous coronary artery dissection (ORPHA:458718)
A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women.
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance (ORPHA:567546)
A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids, but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant.
Idiopathic syringomyelia (ORPHA:99858)
Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.
Idiopathic trachyonychia (ORPHA:79153)
A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.
Idiopathic uveal effusion syndrome (ORPHA:209956)
A rare panuveitis characterized by uni- or bilateral abnormal fluid accumulation within the suprachoroidal space, resulting in internal choroidal elevation, in the absence of any known cause, such as decreased intraocular tension, intraocular tumor, intraocular inflammation or nanophtalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.
Idiopathic ventricular fibrillation, non Brugada type (ORPHA:228140)
A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.
Idiopathic/heritable pulmonary arterial hypertension (ORPHA:422)
A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic.
IgA pemphigus (ORPHA:555905)
A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis.
IgG4-related aortitis (ORPHA:449400)
A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever.
IgG4-related dacryoadenitis and sialadenitis (ORPHA:79078)
IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms).
IgG4-related kidney disease (ORPHA:449395)
A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis.
Epidemiology
The disease prevalence is unknown.
Clinical description
The clinical manifestations include tubulointerstitial nephritis (TIN) and membranous glomerulonephritis with or without TIN. Other glomerular disease is reported (IgA nephropathy, membranoproliferative glomerulonephritis, mesangioproliferative glomerulonephritis). Radiological abnormalities include mass lesions and diffusely enlarged kidneys. Presentation may be on routine imaging, with acute or chronic kidney disease, or with nephrosis depending on underlying lesion. Hydronephrosis may occur due to obstruction from IgG4-related retroperitoneal fibrosis.Other extra renal manifestations of IgG4-RD may also be present (e.g. salivary glands, hypophysis, hepatobiliary system, lungs).
Etiology
The etiology is unknown.
Diagnostic methods
The disease is diagnosed with characteristic imaging and renal biopsy findings (lymphocytic infiltration with predominantly IgG4+ plasma cells, storiform fibrosis, and obliterative phlebitis). Diagnostic criteria have been outlined.
Differential diagnosis
The differential diagnosis depends on presentation. For example, the differential for presentation with TIN includes: medications, autoimmune disease (e.g. Sjogren's syndrome, Sarcoid), malignancy (e.g. lymphoproliferative disease), and infection (e.g. Tuberculosis).
Management and treatment
Not supported by randomized controlled trials. Lymphocytic infiltration is usually quickly responsive to steroids. Some patients require immunosuppressants such as Rituximab.
Prognosis
Relapse is common, and progressive renal impairment can occur, including the need for renal replacement therapy.

                            Last update: 
                            March 2020


                            - Expert reviewer(s): 
                            Dr Rhys EVANS | ERKNet*


                                * European Reference Network