TaoMedAI/RareMedData huggingface dataset:
Intraocular medulloepithelioma (ORPHA:268139)
Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome (ORPHA:508512)
A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome (ORPHA:436144)
A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.
Intravascular large B-cell lymphoma (ORPHA:98839)
Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.
Invasive infections due to vancomycin-resistant enterococci (ORPHA:90078)
A rare bacterial infectious disease characterized by invasive infection with vancomycin-resistant enterococci (VRE), typically after VRE colonization of the gastrointestinal tract or the skin in healthcare settings. Invasive infection most commonly occurs in immunocompromised individuals and patients with breaches in normal defensive barriers (such as intravascular lines or urinary catheters). Patients may develop urinary tract infection, bacteremia, and endocarditis, as well as infections of the abdomen, pelvis, biliary tract, and wounds. Less frequent infection sites include the bone, joints, and meninges, among others.
Invasive mole (ORPHA:99925)
A form of gestational trophoblastic neoplasia similar to a hydatidiform mole but with deep invasion into the myometrium and histologically characterized by hyperplasia of trophoblasts, generalized cystic degeneration of chorionic villi and the presence of molar villi in the myometrium and/ or uterine blood vessels. Indicative signs include persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after evacuation of a hydatidiform mole. Metastases (in the lungs or vagina) may be observed.
Invasive non-typhoidal salmonellosis (ORPHA:324648)
Invasive non-typhoidal salmonellosis is a rare, bacterial, infectious disease caused by extraintestinal infection of non-typhoidal serotypes of  Salmonella enterica  in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed.
Inverse Klippel-Trénaunay syndrome (ORPHA:329324)
A rare vascular anomaly characterized by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy.
Inverse Marcus-Gunn phenomenon (ORPHA:98951)
Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.
IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome (ORPHA:597623)
A rare genetic neurological disorder characterized by childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, seizures, cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal.
IRIDA syndrome (ORPHA:209981)
IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.
Epidemiology
50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed.
Clinical description
Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. The degree of anemia is mostly mild and more pronounced during childhood. If anemia is severe, they may present with weakness, fatigue, dizziness and exercise-induced dyspnea. Laboratory tests show hypochromic, microcytic anemia with very low serum iron and transferrin saturation levels and normal/high serum hepcidin values. Serum ferritin levels are mostly within the normal range, or even slightly elevated after intravenous iron treatment.
Etiology
IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis.
Diagnostic methods
Laboratory tests show hypochromic, microcytic anemia with very low serum iron and transferrin saturation levels and normal/high serum hepcidin values. Serum ferritin levels are mostly within the normal range, or even slightly elevated after intravenous iron treatment. Molecular testing confirms the diagnosis.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            May 2013


                            - Expert reviewer(s): 
                            Dr Mayka SÁNCHEZ FERNÁNDEZ
Iridocorneal endothelial syndrome (ORPHA:64734)
Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandlers syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications
IRVAN syndrome (ORPHA:209943)
A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.
Isobutyryl-CoA dehydrogenase deficiency (ORPHA:79159)
Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).
Isochromosomy Yp (ORPHA:98797)
A rare sex-chromosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.
Isochromosomy Yq (ORPHA:98798)
A rare sex-chromosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features, and a male phenotype with infertility due to azoospermia.
Isolated absence of both forearm and hand (ORPHA:294979)
Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.
Isolated absence of both lower leg and foot (ORPHA:294981)
Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.
Isolated absence of thigh and lower leg with foot present (ORPHA:294977)
Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.
Isolated absence of upper arm and forearm with hand present (ORPHA:294975)
A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome.
Isolated absence/hypoplasia of fingers excluding thumb, unilateral (ORPHA:973)
Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.
Isolated acheiria (ORPHA:294983)
A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.
Isolated acheiropodia (ORPHA:931)
An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.
Isolated agammaglobulinemia (ORPHA:229717)
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.
Epidemiology
Prevalence is estimated to be about 1/250,000 to 1/500/000. Isolated agammaglobulinemia has been reported worldwide in all ethnic groups.
Clinical description
Two forms of IA have been described based on the pattern of inheritance of the genetic defects underlying the disorder: X-linked agammaglobulinemia (XLA) which represents approximately 85% of the affected patients, and autosomal agammaglobulinemia (see these terms) which includes recessive and dominant cases but is far less frequent. The clinical signs of the two forms are very similar and include recurrent bacterial infections (otitis media, pneumonia, and sinusitis), diarrhea and skin infections with onset in infancy. Late-onset agammaglobulinemia is known as common variable immunodeficiency (CVID; see this term).
Etiology
Defects in B lymphocyte development and maturation appear to underlie agammaglobulinemia. Mutations in seven genes have been reported to be related to IA: BTK (Xq21.33-q22), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23), IGHM(14q32.33), IGLL1 (22q11.23), PIK3R1 (5q13.1) and TCF3 (19p13.3).
Genetic counseling
X-linked, autosomal recessive and autosomal dominant cases are reported.

                            Last update: 
                            December 2013


                            - Expert reviewer(s): 
                            Dr Marie Ellen CONLEY
Isolated agenesis of gallbladder (ORPHA:440987)
A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledocholithiasis is increased significantly.
Isolated amelia of lower limb (ORPHA:294969)
A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.
Isolated amelia of upper limb (ORPHA:294967)
A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.
Isolated amyelia (ORPHA:268868)
A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction.
Isolated anencephaly/exencephaly (ORPHA:1048)
A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.
Epidemiology
Its prevalence at birth ranges from 1 in 5000 to 1 in 2000. The prevalence at birth displays an unequal geographical distribution, with especially high rates in the British Isles, China, Mexico and Turkey. This may be attributed to the genetic backgrounds of the populations and to dietary habits.
Etiology
Autopsy findings reveal that anencephaly is in most cases associated with absence of adrenal glands. Anencephaly is likely to be multifactorial, the result of gene-environment interactions. Folic acid and zinc deficiencies, as well as maternal obesity, have been shown to be risk factors.
Antenatal diagnosis
Prenatal diagnosis can be made easily by ultrasonography in the first trimester of pregnancy when the cranial vault is not yet apparent.
Genetic counseling
Familial cases with a seemingly autosomal recessive mode of inheritance have been described but most cases are sporadic.
Management and treatment
Prevention of recurrence for subsequent pregnancies should include prescription of 4 mg/day of folic acid, to be started before pregnancy and continued until the second missed period. For subsequent pregnancies there is also an increased risk of spina bifida.

                            Last update: 
                            March 2006
Isolated aniridia (ORPHA:250923)
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
Epidemiology
The annual incidence is estimated at 1/ 64,000- 1/ 96,000.
Clinical description
Isolated aniridia can occur in association with a range of other ocular anomalies including cataract, glaucoma (usually occurring during adolescence), corneal pannus, optic nerve hypoplasia, absence of macular reflex, ectopia lentis, nystagmus, and photophobia, all of which generally result in poor vision.
Etiology
Aniridia is due to mutations in the PAX6 gene (11p13) encoding a transcriptional regulator involved in oculogenesis. PAX6 mutations result in alterations in corneal cytokeratin expression, cell adhesion and glycoconjugate expression.
Diagnostic methods
Diagnosis is based on ophthalmological examination and is confirmed by mutation detection of the PAX6 gene.
Antenatal diagnosis
Antenatal diagnosis is only possible when the underlying genetic defect is known. It is performed by invasive procedures like chorionic villus sampling (CVS) or amniocentesis and molecular analysis of fetal DNA.
Genetic counseling
Aniridia is inherited in an autosomal dominant manner with high penetrance and variable expression. About two-thirds of affected children have an affected parent and one-third of cases occur in sporadic form.
Management and treatment
A regular follow-up is necessary. Intraocular pressure should be measured yearly for detection of glaucoma. Keratolimbal allograft (a stem cell transplantation technique) has been evaluated as a treatment of the aniridic keratopathy, which is a major cause of vision loss in aniridia patients. Glaucoma drainage is used to treat secondary angle closure glaucoma.
Prognosis
Aniridia results in poor vision, the mean visual acuity being around 0,19 in young adulthood.

                            Last update: 
                            March 2012


                            - Expert reviewer(s): 
                            Pr Michael PETERSEN
Isolated ankyloblepharon filiforme adnatum (ORPHA:91397)
Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.
Isolated anterior cervical hypertrichosis (ORPHA:3387)
A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.
Isolated apodia (ORPHA:294986)
A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.
Isolated arhinencephaly (ORPHA:268936)
Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.
Isolated arrhinia (ORPHA:1134)
An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.
Isolated asymptomatic elevation of creatine phosphokinase (ORPHA:206599)
A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.
Isolated ATP synthase deficiency (ORPHA:254913)
Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).
Isolated autosomal dominant hypomagnesemia, Glaudemans type (ORPHA:199326)
Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.
Epidemiology
IADHG has only been described in one large Brazilian kindred with 46 family members, of whom 21 were affected.
Clinical description
Onset of IADHG is typically in infancy. Clinical manifestations consist of recurrent and severe muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. Additional features include facial myokymia, arythmias, severe muscle spasms and muscular pain.
Etiology
IADHG is caused by a N255D mutation in the KCNA1 gene (12p13), which encodes the voltage-gated potassium channel Kv1.1 (expressed in the kidney, where it colocalized with TRPM6 in apical membrane of distal convoluted tubule). Mutations in KCNA1 result in a nonfunctional channel protein, with a dominant negative effect on wild-type Kv1.1 channel function, which is involved in the maintenance of membrane voltage and optimal function of the TRPM6 channel.
Diagnostic methods
Diagnosis relies on laboratory findings showing low serum Mg levels, while serum potassium (K) and calcium (Ca) levels and urinary Ca excretion are not affected. Diagnosis is confirmed by genetic screening of KCNA1.
Differential diagnosis
Differential diagnosis includes the other forms of FPH and episodic ataxia type 1 (see these terms).
Genetic counseling
Transmission is autosomal dominant. Genetic counseling may be proposed and the recurrence risk is 50%.
Management and treatment
Management is mainly symptomatic and involves a daily dose of magnesium chloride. During manifestations, intravenous or intramuscular administration of magnesium sulfate is preferred.
Prognosis
Prognosis highly depends on rapidity of diagnosis and treatment, as the disease can be fatal following tetany attacks.

                            Last update: 
                            February 2014


                            - Expert reviewer(s): 
                            Dr Rosa VARGAS-POUSSOU