TaoMedAI/RareMedData huggingface dataset:
Chronic diarrhea due to glucoamylase deficiency (ORPHA:103907)
A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.
Chronic diarrhea with villous atrophy (ORPHA:1670)
Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.
Chronic enteropathy associated with SLCO2A1 gene (ORPHA:468641)
A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
Chronic eosinophilic leukemia (ORPHA:168940)
A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.
Chronic Epstein-Barr virus infection syndrome (ORPHA:2566)
Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.
Chronic hiccup (ORPHA:396)
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.
Epidemiology
The disorder is thought to affect approximately 1/100,000 individuals. Chronic hiccup affect males more often than females.
Clinical description
The involuntary spasmodic contractions of the inspiratory muscles followed by the rapid closure of the vocal cords known as hiccups usually last for no more than a few minutes or at most a few hours with spontaneous resolution, and can affect people of any age. In rare pathological cases, hiccups may last for more than two days (chronic /persistent hiccup). Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion.
Etiology
The hiccup is poorly understood. According to experimental data it is probably a coordinated ventilatory movement mixing bronchial ventilation, suction and deglutition components. Chronic hiccup is mainly an esophageal and gastric disorder. Other causes may include fever, brain lesions/tumors, cardiovascular disorders (stroke, myocardial infarction), renal failure, metabolic imbalance, peripheral nerve stimulation, or other injuries, drugs (chemotherapy, benzodiazepines, corticosteroids, barbiturates, morphine, and anesthetics), and alcohol. Other triggers include placement of medical instruments, certain foods and beverages, spices and tobacco. Cases also sometimes develop in a context of surgery (pleural, peritoneal or intracranial).
Diagnostic methods
Clinical diagnosis is usually straightforward given the nature of the involuntary spasms. Imaging or laboratory tests to identify the underlying cause should focus primarily on the esophagus.
Differential diagnosis
Hiccups are extremely specific and can rarely be mistaken for another condition.
Management and treatment
Many anecdotal treatments have been described with varying success. Management should ideally focus on identifying and treating the underlying cause, especially esophageal. No specific treatments have proven efficacy in the absence of controlled studies. Pharmacological approaches that have been attempted in cases where no gastroesophageal treatment works include baclofen, chlorpromazine, carbamazepine, haloperidol, metoclopramide, gabapentin, serotoninergic agonists, prokinetics, lidocaine, nifedipine, carvedilol and marijuana. Alternative therapy includes hypnosis and acupuncture. Phrenic nerve blockade is of little benefit since it yields only partial relief at the expense of respiratory insufficiency. Long-term treatment of the frequent esophageal cause can be very useful.
Prognosis
Persistent hiccups can reduce quality of life. Very long intractable disease may be debilitating.

                            Last update: 
                            June 2014


                            - Expert reviewer(s): 
                            Pr Jean CABANE
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (ORPHA:314373)
A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.
Chronic intestinal failure (ORPHA:294422)
Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).
Chronic lymphoproliferative disorder of natural killer cells (ORPHA:512017)
A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral neuropathy, or splenomegaly.
Chronic mast cell leukemia (ORPHA:566396)
A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.
Chronic mucocutaneous candidiasis (ORPHA:1334)
A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.
Chronic myeloid leukemia (ORPHA:521)
Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.
Epidemiology
Its annual incidence has been estimated at between 1 and 1.5 cases per 100,000 and its prevalence at around 1 in 17,000.
Clinical description
The disease is typically triphasic with a chronic phase (CML-CP), accelerated phase (CML-AP) and blast phase (CML-BP). The majority of patients are diagnosed in the chronic phase and may be either asymptomatic (diagnosed through a routine white blood cell count) or present with fatigue, anaemia, weight loss, night sweats or splenomegaly.
Etiology
CML is characterised by the presence of the Philadelphia chromosome, an abnormality resulting from a balanced translocation between chromosomes 9 and 22 (t(9;22)(q34;q11.2)). This translocation generates a BCR/ABL gene fusion encoding a constitutively active tyrosine kinase. CML does not appear to be an inherited disease and the factors leading to predisposition for the disorder remain largely unknown.
Management and treatment
Although an allogeneic bone marrow transplant is viewed as the only curative treatment option, the prognosis for patients improved dramatically with the targeted development of imatinib mesylate. Imatinib mesylate is a competitive inhibitor of BCR/ABL tyrosine kinase activity and has held EU marketing authorisation as an Orphan drug for the treatment of CML since 2001.

                            Last update: 
                            May 2007
Chronic myeloproliferative disease, unclassifiable (ORPHA:86830)
A rare hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features ofmyeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.
Chronic neutrophilic leukemia (ORPHA:86829)
A rare myeloproliferative neoplasm characterized by sustained peripheral blood neutrophilia, bone marrow hypercellularity due to neutrophilic granulocyte proliferation, and hepatosplenomegaly. Other organs may be infiltrated in addition. Microscopically, the bone marrow shows an increase in proportion of myelocytes and mature neutrophils, but no significant dysplasia in any of the cell lineages. Peripheral blood neutrophils are mostly segmented, although band forms may also be substantially increased. Cytogenetic abnormalities are absent in most cases. The disease is slowly progressive with progredient neutrophilia followed by anemia and thrombocytopenia. Transformation to acute myeloid leukemia may occur.
Chronic pneumonitis of infancy (ORPHA:91359)
Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term).
Epidemiology
Prevalence of this disease is not known.
Clinical description
The clinical and radiologic features are similar to those observed in other forms of ILD (cough, tachypnea, and infiltrative opacities on chest imaging). Specific histological abnormalities include diffuse thickening of alveolar septa, hyperplasia of type 2 alveolar epithelial cells (AEC), and presence of primitive mesenchymal cells within the alveolar septa. In some cases, foci of pulmonary proteinosis-like material have been observed in air spaces.
Prognosis
The prognosis is poor with a high mortality rate.

                            Last update: 
                            January 2011


                            - Expert reviewer(s): 
                            Pr Annick CLEMENT
Chronic relapsing inflammatory optic neuritis (ORPHA:499085)
A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.
Chronic respiratory distress with surfactant metabolism deficiency (ORPHA:217566)
Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.
CHST3-related skeletal dysplasia (ORPHA:263463)
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
Chudley-McCullough syndrome (ORPHA:314597)
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.
Chuvash erythrocytosis (ORPHA:238557)
Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.
Chylous ascites (ORPHA:1160)
Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.
CIDEC-related familial partial lipodystrophy (ORPHA:435651)
A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.
Circumscribed palmoplantar hypokeratosis (ORPHA:69744)
A rare acquired epidermal dysplasia characterized by annular, well-circumscribed patches of erythematous depressed skin.
Epidemiology
So far, it has been reported in a little over 110 patients, but the condition is likely to be underdiagnosed as it was only recognized in 2002. The majority of reported patients are middle-aged or elderly women in the United States, Japan, and Spain, but cases have also been reported in other European and Asian countries.
Clinical description
The lesions are well-circumscribed, usually round and measuring 5-15 mm in diameter, erosion-like plaques that generally occur on the palms or soles and are usually solitary, although a few patients have been reported with two or more lesions. These lesions are asymptomatic but may be mildly pruritic, tender or painful.
Etiology
The etiology is unknown; the lesions may result from a disordered epidermal differentiation or desquamation process. Exceptional congenital cases have been reported.
Diagnostic methods
Accurate diagnosis requires histopathological analysis. The characteristic features are a decrease of the horny layer's thickness with a sharp stair-like boundary separating the affected and normal skin, and a slightly diminished granular cell layer.
Differential diagnosis
The absence of cornoid lamellation allows exclusion of porokeratosis of Mibelli.
Management and treatment
Treatment is not strictly necessary as the lesions are asymptomatic and, by definition, benign; they may be treated with excision, cryotherapy and application of topical calcipotriol.
Prognosis
The condition is chronic and benign. The lesions enlarge slowly over time, before stabilizing. Rarely, the epidermis may show (pre)neoplastic changes.

                            Last update: 
                            December 2022


                            - Expert reviewer(s): 
                            Pr Jean KANITAKIS
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
A rare disorder of manganese transport characterized by childhood onset of extrapyramidal movement disorder (including dystonia, tremor, and bradykinesia), liver cirrhosis, polycythemia, and hypermanganesemia. Cases with spastic paraparesis without extrapyramidal dysfunction have also been reported. Cognitive functions are preserved. Brain imaging findings are consistent with deposition of manganese in the basal ganglia, dentate nucleus, brain stem, and anterior pituitary.
Citrin deficiency (ORPHA:247582)
A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).
Citrullinemia type I (ORPHA:247525)
Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term).
Citrullinemia type II (ORPHA:247585)
A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.
Citrullinemia (ORPHA:187)
Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms).
CK syndrome (ORPHA:251383)
CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.
CLAPO syndrome (ORPHA:168984)
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.
Clark-Baraitser syndrome (ORPHA:600731)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap.
Class I glucose-6-phosphate dehydrogenase deficiency (ORPHA:466026)
A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form (ORPHA:315306)
A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form (ORPHA:315311)
A form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females, and normal genitalia in males in association with glucocorticoid insufficiency with absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development.
Classic medulloblastoma (ORPHA:251867)
Classic medulloblastoma is a histological variant of medulloblastoma (see this term) ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.
Classic neuroendocrine tumor of appendix (ORPHA:329977)
A rare endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. It is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.