TaoMedAI/RareMedData huggingface dataset:
Rat-bite fever (ORPHA:31205)
Rat-bite fever (RBF) is a systemic bacterial zoonosis occurring in individuals that have been bitten or scratched by Streptobacillus moniliformis or Spirillum minus-infected rats and characterized by high fever, a rash on the extremities, and arthralgia.
Epidemiology
The exact incidence is unknown.
Clinical description
The clinical manifestations include high fever followed by headaches, chills, vomiting, a rash generally developing on the palms and soles, and symmetric polyarthritis of the joints that generally restricts movement.
Etiology
Most reported cases of rat-bite fever in the USA are caused by S. moniliformis (streptobacillary rat-bite fever), whereas in Asia the disease is mainly due to Spirillum minus (spirillary rat-bite fever; see these terms). Rat-bite fever is also contracted through contact with secretions of infected rats and less often through contact with other S. moniliformis and S. minus hosts, such as gerbils, mice and squirrels. In rare cases, the disease is transmitted through animal hosts such as dogs, cats and ferrets.
Diagnostic methods
Diagnosis is mainly based on the clinical symptoms, reported occurrence of a rat bite, clinical course and characteristic growth of the infectious agents in cultures from blood, synovial fluid or wound tissue.
Differential diagnosis
The differential diagnosis includes Haverhill fever (caused by S. moniliformis but transmitted via the consumption of water, milk or food contaminated by rat excrement; see this term) and several bacterial and viral infections (Lyme disease, leptospirosis, brucellosis, Rocky Mountain spotted fever (see these terms), S. pyogenes and S. pyogenes-associated diseases, S. aureus infection, disseminated gonorrhea, meningococcemia, viral exanthemas, and secondary syphilis).
Management and treatment
Management requires a prophylactic (avoiding direct or indirect contact with host animals) and therapeutic approach (local treatment and antimicrobial therapy). The most effective antibiotic treatment is penicillin G administration in non-allergic patients, and tetracycline and streptomycin in penicillin-allergic patients.
Prognosis
Prognosis is excellent if the disease is treated. If left untreated, RBF presents a mortality rate of approximately 10% due to complications.

                            Last update: 
                            August 2009


                            - Expert reviewer(s): 
                            Dr François TREMOLIERES
Ravine syndrome (ORPHA:99852)
Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.
Reactive arthritis (ORPHA:29207)
A rare spondyloarthritis characterized by acute or chronic sterile synovitis with or without extra-articular manifestations, becoming manifest after an infection.
Epidemiology
Annual incidence for acute reactive arthritis is conservatively estimated between 1/11,000-166,000, although this may be an underestimate. The prevalence of the chronic form is unknown. The disease most commonly affects young adults and is associated with HLA-B27 allele, especially in its chronic form.
Clinical description
Age of onset varies widely, with a peak at 15-35 years of age. The disease usually occurs within 1-3 weeks after a urogenital or gastrointestinal infection. Urinary symptoms are often the first manifestation. Prostatitis in men, and cervicitis, salpingitis and/or vulvovaginitis in women are frequent findings. Arthritis generally appears several weeks or months after the initial symptoms. It often affects one (knee) or a few major joints (knees, ankles or toes). The tendons and ligaments next to the joints may also be inflamed, particularly the Achilles tendon and the lower back joints. Extraarticular manifestations may involve the eye with conjunctivitis, iritis, or uveitis, as well as the skin with rashes on the hands or feet. Balanitis, nail changes, mucosal ulcers, fever, weight loss, and cardiac manifestations may also occur. In most patients, the symptoms last for 1-6 months, but the disease can also become chronic.
Etiology
Reactive arthritis is typically triggered by Gram-negative infections (commonly due to Chlamydia, Shigella, Salmonella, or Yersinia) in genetically predisposed individuals.
Diagnostic methods
The diagnosis relies on a compatible clinical scenario and history, the identification of a trigger infection and is supported by HLA-B27 positivity.
Differential diagnosis
Differential diagnosis includes other spondyloarthritis (ankylosing spondylitis, psoriatic arthritis, inflammatory bowel disease-associated spondyloarthropathy, juvenile-onset spondyloarthropathy, and undifferentiated spondyloarthropathy). Septic arthritis, gonococcal infection, and viral arthritis should also be excluded.
Genetic counseling
Genetic testing for HLA-B27 is not recommended in the absence of a clinical suspicion.
Management and treatment
Management aims at eradication of the underlying infection (antibiotics) and reduction of joint pain and inflammation (analgesics, anti-inflammatory drugs, steroids and immunosuppressants), as well as rest and specific treatment of extraarticular manifestations.
Prognosis
Prognosis is variable. One-third of patients may develop chronic disease which requires prolonged or life-long treatment. However, the majority of patients have a normal life span and nearly normal lifestyle.

                            Last update: 
                            October 2021


                            - Expert reviewer(s): 
                            Dr Francesca MOTTA  - Pr Carlo SELMI
Reading seizures (ORPHA:166433)
A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome (ORPHA:280384)
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.
Recessive mitochondrial ataxia syndrome (ORPHA:94125)
A rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.
Rectal duplication (ORPHA:171220)
A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.
Recurrent hepatitis C virus induced liver disease in liver transplant recipients (ORPHA:90052)
A rare hepatic disease characterized by recurrence of hepatitis C virus infection after liver transplantation, leading to liver injury with features resembling those observed in the non-transplant graft, and typically developing after three months post-transplantation. The clinical course is highly variable, although patients most commonly develop progressive chronic liver disease with higher viral loads and more rapid fibrosis progression than in the immunocompetent population.
Recurrent idiopathic neuroretinitis (ORPHA:499103)
A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.
Recurrent infections due to specific granule deficiency (ORPHA:169142)
A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (ORPHA:480864)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.
Recurrent Neisseria infections due to factor D deficiency (ORPHA:169467)
Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to  Neisseria  bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.
Reducing body myopathy (ORPHA:97239)
Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.
Epidemiology
The prevalence is unknown: although some sporadic cases have been described, only four families with RBM have been reported in the literature so far.
Clinical description
The age of onset, speed of progression and severity of the disease vary significantly between patients, even between affected members of the same family. Although early development is generally normal (up to 2 years of age), onset during infancy or early childhood appears to be associated with severe myopathy, hypotonia and rapidly progressive muscle weakness leading to death due to respiratory insufficiency within the first five years of life. Onset during childhood or adulthood is characterised by mainly proximal muscle weakness, a rigid spine syndrome and a slowly progressive disease course.
Etiology
Both sporadic and familial cases of RBM are caused by mutations in the gene encoding the four-and-a-half LIM domain 1 protein (FHL1; Xq27.2).
Diagnostic methods
As the clinical picture is highly variable (EMG reveals mixed myogenic patterns), diagnosis relies on recognition of the typical histopathological findings at muscle biopsy: the non-membrane-bound inclusions reduce nitro-blue tetrazolium (hence the name `reducing body myopathy') and are located in the cytoplasm, usually close to the degenerating nucleus. Electron microscopy reveals that the inclusions consist of a fine granular material and immunohistochemical analysis reveals the presence of aggresome-like proteins.
Differential diagnosis
The differential diagnosis should include other disorders with reducing bodies (e.g. acid maltase deficiency) and other congenital myopathies in familial cases (see these terms). Sarcotubular myopathy may also be considered in patients with less severe forms of the disease.
Genetic counseling
The mode of transmission remains unclear. There are no reports of male-to-male transmission in familial cases and cases of severely affected females have been reported. X-linked dominant, semi-dominant and recessive inheritance have been suggested and skewed X-inactivation has not been excluded.
Management and treatment
Management is supportive and should be multidisciplinary (involving a neurologist, orthopaedic surgeon and physical therapist).
Prognosis
The prognosis is generally severe: disease progression results in loss of ambulation, and death due to respiratory failure occurs even in patients with later-onset slowly progressive forms of the disease.

                            Last update: 
                            April 2008


                            - Expert reviewer(s): 
                            Pr Bertrand FONTAINE
Reflex epilepsy (ORPHA:310)
Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).
Refractory anemia with excess blasts in transformation (ORPHA:168960)
A rare hematologic disease characterized by the presence of 20-29% blasts in the bone marrow, presence of 5-29% blasts in the peripheral blood, and/or presence of Auer rods. Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics constituting important prognostic factors.
Refractory celiac disease (ORPHA:398063)
Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.
Refractory cytopenia with multilineage dysplasia (ORPHA:86836)
Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS; see this term) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.
Epidemiology
Exact prevalence is unknown but RCMD accounts for about 30% of patients with MDS which has a prevalence estimated to be 1/25,000 to 1/33,000. The disease tends to occur in older adults with a male predominance.
Clinical description
Most patients are asymptomatic at presentation, and the disorder is detected incidentally. Some patients may have fatigue (anemia), a tendency to bleed or bruise (thrombocytopenia), or susceptibility to infections (neutropenia). Laboratory findings show one or more cytopenias.
Etiology
The etiology is not known but is thought to involve inherited susceptibility or hematopoietic stem cell damage.
Diagnostic methods
The hematological parameters used to define RCMD are as follows: less than 1% blasts in peripheral blood or less than 5% in bone marrow, multilineage dysplasia sometimes with ring sideroblasts, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes).
Prognosis
Median survival of 17 to 33 months has been reported.

                            Last update: 
                            February 2015
Regressive spondylometaphyseal dysplasia (ORPHA:448267)
A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.
Reis-Bücklers corneal dystrophy (ORPHA:98961)
Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.
Epidemiology
Prevalence of this form of corneal dystrophy is not known.
Clinical description
Lesions develop at about 4 to 5 years of age. The opacities assume an irregular ring-shaped pattern of discrete spots and lines that focally elevate the corneal epithelium. RBCD remains asymptomatic until epithelial erosions precipitate acute episodes of ocular hyperemia, pain, and photophobia. Visual acuity eventually becomes reduced during the second and third decades of life following a progressive superficial haze and development of an irregular corneal surface. Compared to other variants of granular corneal dystrophy, RBCD involves earlier onset of symptoms and a higher frequency of recurrent erosions.
Etiology
Reis-Bücklers corneal dystrophy is caused by a specific mutation in the TGFBI gene (5q31).
Diagnostic methods
The superficial corneal stroma contains deposits of mutated transforming growth factor beta-induced protein that are indistinguishable from those of other forms of granular corneal dystrophies.
Differential diagnosis
RBCD is clinically similar to Thiel-Behnke corneal dystrophy (TBCD, see this term), but generally has a more severe course. Tissue examination or molecular genetic analysis can be used to differentiate RBCD and TBCD.
Genetic counseling
An autosomal dominant pattern of inheritance has been reported.
Management and treatment
In advanced cases of RBCD, a superficial keratectomy, phototherapeutic keratectomy (PTK) or lamellar keratoplasty (LKP) may improve vision, but a penetrating keratoplasty (PK) is rarely necessary because the pathologic changes only involve the superficial cornea.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
RELA fusion-positive ependymoma (ORPHA:530792)
A rare ependymal tumor characterized by the presence of a RELA fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.
Relapsing fever (ORPHA:91547)
Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease (see this term) belonging to the Borrelia burgdorferi complex.
Epidemiology
Louse-borne relapsing fever is a world-wide disease but occurs mainly in localized regions of developing countries. Tick-borne relapsing fever occurs in Africa, the Mediterranean region, Asia and America. Only a few imported cases are seen in Northern European countries.
Clinical description
The disease is characterized by cyclic fever (alternating periods of sudden fever followed by remission) associated with a general state of ill health with other rare complications (cardiac, neurologic or ocular manifestations and hemorrhage).
Etiology
The disease may be epidemic and transmitted by lice or endemic and transmitted by soft-bodied ticks (Ornithodoros and Argas).
Diagnostic methods
Diagnosis revolves around direct examination of stained blood smears and on PCR analysis of blood samples.
Differential diagnosis
The principle differential diagnosis is malaria.
Management and treatment
Antibiotic treatment (cycline) is effective. Prevention revolves around eradication of the host vector.

                            Last update: 
                            October 2008


                            - Expert reviewer(s): 
                            Dr Muriel CORNET  - Dr Elisabeth FERQUEL
Renal agenesis, bilateral (ORPHA:1848)
A form of renal agenesis characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
Renal agenesis, unilateral (ORPHA:93100)
A form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.
Renal caliceal diverticuli-deafness syndrome (ORPHA:2838)
A rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.
Renal dysplasia, bilateral (ORPHA:93173)
A form of renal dysplasia (RD), a renal tract malformation, characterized by abnormal or incomplete development of both kidneys. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the residual kidney function is sufficient. In cases of severe bilateral RD, the risk of renal failure in childhood is high.
Renal dysplasia, unilateral (ORPHA:93172)
A form of renal dysplasia (RD) characterized by abnormal or incomplete development of one kidney. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the contralateral kidney is functional. Even in cases of severe unilateral RD, i.e. renal aplasia, the risk of renal failure in childhood is minimal; however, patients may develop hypertension, proteinuria and renal failure as adults.
Renal hypoplasia, bilateral (ORPHA:97362)
A form of renal hypoplasia characterized by bilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic but may be associated with hypertension, and some excretory functional limitations, as well as eventual chronic renal failure.
Renal hypoplasia, unilateral (ORPHA:97361)
A form of renal hypoplasia characterized by unilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic with minimal risk of renal failure in childhood
Renal medullary carcinoma (ORPHA:319319)
Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.