TaoMedAI/RareMedData huggingface dataset:
Carcinoma of esophagus (ORPHA:70482)
Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).
Epidemiology
The estimated annual incidence of EC in Europe is approximately 1/13,300.
Clinical description
The disease usually presents between the ages of 50-70 years. It is often asymptomatic until it has reached an advanced disease stage with the first symptoms usually being difficulty in swallowing (dysphagia), especially present when swallowing dry foods. Unintentional weight loss is also common. Manifestations of back or chest pain, hoarseness of voice, unexplained coughing, protracted hiccups, and severe reflux may be presenting or associated symptoms. More rarely, neck swelling from adenopathies may be the initial manifestation.
Etiology
The etiology is unknown but many risk factors for esophageal cancer have been identified. Alcohol abuse, smoking, lye ingestion, radiation therapy and achalasia are associated with ESCC. EAC is associated with Barrett's esophagus (see this term), which is intestinal metaplasia (replacement of normal esophageal epithelia by intestinal epithelia), associated with chronic gastroesophageal reflux disease. EAC has also been associated with obesity, in particular visceral obesity and metabolic syndromes which are more common in men than in women.

                            Last update: 
                            January 2013


                            - Expert reviewer(s): 
                            Dr Claire DONOHOE  - Dr John REYNOLDS
Carcinoma of the ampulla of Vater (ORPHA:300557)
Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.
Carcinosarcoma of the cervix uteri (ORPHA:213787)
Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.
Carcinosarcoma of the corpus uteri (ORPHA:213610)
Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.
Cardiac anomalies-heterotaxy syndrome (ORPHA:137628)
Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.
Cardiac diverticulum (ORPHA:1686)
Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.
Epidemiology
CCD is a very rare malformation. Exact prevalence and incidence data are not available. About 0.4% or 1 of 250 cardiac necropsy cases showed this malformation. In the literature, the combined number of aneurysm/diverticle reports is 418 cases. Incidence of 1/2700 on echocardiographic studies (0.04% of the population) has been reported. A very slightly higher incidence has been reported in males compared to females (1.05:1.0).
Clinical description
Congenital cardiac diverticulum is often associated with other cardiac abnormalities (midline defects) but is mostly an isolated anomaly. It is mostly found in infants and children and occasionally as an incidental finding in adults. The left ventricular apex is the most common location, but right ventricular diverticula are also reported. Two types of CCD are described: fibrous CCD which may be asymptomatic or associated with thromboembolic events, and muscular CCD with normal myocardial contraction which is frequently associated with other congenital anomalies and may cause rupture, aortic insufficiency, endocarditis, heart failure and tachyarrhythmia. Other clinical manifestations may include dyspnea, palpitation, and chest pain. Fetal death has also been described because of intrauterine diverticulum rupture. Congenital aneurysms are composed of collagenous or connective tissue and are associated with akinesis or dyskinesis. Acquired forms of cardiac diverticulum/aneurysm are common, particularly after myocardial infarction.
Etiology
The etiology of congenital cardiac diverticulum is not known. Hemodynamic factors may play a role. In the 4th embryonic life there are outpouchings in the early wall of the left ventricle which later enlarge ventriclular cavity volume. Failure during this process could be responsible for the development of aneurysms.

                            Last update: 
                            March 2015
Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
Cardiocranial syndrome, Pfeiffer type (ORPHA:2872)
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.
Cardiogenic shock (ORPHA:97292)
A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.
Cardiomyopathy-cataract-hip spine disease syndrome (ORPHA:1345)
A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.
Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.
Cardiospondylocarpofacial syndrome (ORPHA:3238)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.
Carey-Fineman-Ziter syndrome (ORPHA:1358)
Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.
Epidemiology
Less than 20 cases have been reported the literature, including two pairs of sibs.
Clinical description
Most patients had non-specific peripheral (myopathy) or central (brain anomaly) causes of hypotonia. Some had a non-specific myopathy, with consequent severe scoliosis. Other features, reported in one or two patients with CFZ, included brain anomalies (ventriculomegaly, reduced white matter, neuronal heterotopias, small foci of necrosis with microcalcifications, small pons and brainstem with enlarged pre-pontine and pontocerebellar cisterns), absence of the pectoralis major muscle with an ulnar deviation of the hand (Poland sequence), laryngostenosis, unexplained intermittent arterial hypertension with facial flushing and sweating, hydronephrosis, glanular hypospadias, and talipes equinovarus. Intelligence may be normal but mental disability has been reported. One patient also presented with a gastrointestinal disturbance with biopsy-proven villous atrophy.
Diagnostic methods
Diagnosis can be made on the basis of clinical features, but magnetic resonance imaging (MRI) is necessary to detect the brain anomalies.
Genetic counseling
Although CFZ syndrome has been reported in two pairs of sibs, suggesting an autosomal recessive mode of inheritance, the recurrence risk does not seem to be as high as 25%.
Management and treatment
Scoliosis necessitated rod placement in one patient during adolescence, and in another case induced restrictive lung disease and death from pneumonia at 37 years of age.

                            Last update: 
                            April 2006
Caribbean parkinsonism (ORPHA:97355)
Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.
Epidemiology
Prevalence is unknown, but a higher number of cases have been described in the French West Indies.
Etiology
This form of atypical parkinsonism may be related to exposure to tropical plants containing mitochondrial complex I inhibitors.
Differential diagnosis
Guadelupian parkinsonism may actually be a tauopathy identical or closely related to progressive supranuclear palsy (see this term).
Management and treatment
Most patients are L-dopa unresponsive.

                            Last update: 
                            December 2007
Carney complex-trismus-pseudocamptodactyly syndrome (ORPHA:319340)
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).
Carney triad (ORPHA:139411)
A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.
Epidemiology
Less than 100 cases have been reported worldwide. Carney's triad primarily affects young women (mean age of onset 20 years).
Clinical description
Most patients initially present with two of the three tumors (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Additional features include headaches, fatigue, anorexia, hypertension and tachycardia. Pulmonary chondromas (well-differentiated benign cartilaginous tumors) occur in approximately 80% of cases. They are often asymptomatic and may be unilateral (83%) or bilateral (32%). Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients.
Etiology
The etiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad, while SDHD, SDHB or SDHC germline mutations have been found in some patients with Carney-Stratakis dyad (see this term).
Diagnostic methods
Gastroscopy, radiography and computing tomography are the main diagnostic methods. SDH genetic testing is available. The absence of a paraganglioma, which usually completes the triad after several years (median: 6 years), does not allow exclusion of the diagnosis of Carney's triad. Iodine 131-metoiodobenzylguanidine scintigraphy and Octrescan® may help to detect paragangliomas.
Differential diagnosis
The differential diagnosis should include Carney-Stratakis dyad.
Management and treatment
The treatment of choice for GIST and its metastases (overall rate: 50%) is surgical resection. GIST associated with Carney's triad are mostly indolent. Recurrence after surgery is found in approximately 50% of patients, with a mean interval after the initial presentation of 12 years. Imatinib mesylate, an effective agent in the treatment of GIST, is under investigation as an adjuvant treatment. Paragangliomas require surgical resection; chemotherapy and metabolic radiotherapy may be used in malignant cases (overall rate: 10%). Surgery for pulmonary chondromas is indicated only in case of impaired lung function. Approaches targeting SDH function may potentially be useful in treating patients with Carney's triad who show SDH deficiencies. However, at present, there is no drug that restores SDH function. Life-long follow-up should be offered to all patients with Carney's triad.

                            Last update: 
                            September 2008


                            - Expert reviewer(s): 
                            Pr Sebastiano FILETTI
Carney-Stratakis syndrome (ORPHA:97286)
Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.
Epidemiology
It is a very rare syndrome reported in less than 20 unrelated families to date. It presents at a young age (median age: 19 years) with an apparently equal ratio of male and female patients.
Clinical description
Patients with Carney-Stratakis syndrome have both GIST and paraganglioma. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of Carney-Stratakis syndrome varies widely, depending on the localization and the size of the tumors, and may include a palpable mass, dysphagia, abdominal pain, weight loss, hematemesis, melena, obstruction, perforation, cranial nerve palsies, tinnitus and hearing loss. GIST are intramural mesenchymal tumors of the gastrointestinal tract that originate from stem cells with characteristics of the interstitial cells of Cajal (the pacemaker cells which regulate peristalsis in the digestive tract). Paragangliomas are usually benign tumors that occur without clinical evidence of oversecretion and that arise within the sympathetic nervous system from cells of the paraganglia.
Etiology
The vast majority of Carney-Stratakis syndrome cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD.
Diagnostic methods
Diagnosis is made by clinical and radiologic examination, and confirmed immunohistochemically. Genetic testing to determine if SDH defects may be contributing to tumor growth or recurrence should be offered to pediatric GIST patients.
Differential diagnosis
The main differential diagnosis includes Carney triad.
Genetic counseling
Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance.
Management and treatment
Treatment modalities are surgery, embolization and radiotherapy. Chemotherapy with imatinib mesylate may be helpful for some patients with advanced-stage GIST. Targeting SDH function may potentiallybe useful in treating Carney-Stratakis syndrome patients but, at present, there are no drugs that restore SDH function. Life-long follow-up should be offered to patients with Carney-Stratakis syndrome.

                            Last update: 
                            January 2008


                            - Expert reviewer(s): 
                            Pr Philippe CHANSON
Carnitine palmitoyl transferase II deficiency, myopathic form (ORPHA:228302)
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).
Epidemiology
About 300 cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence.
Clinical description
The age of onset varies between 1 and 61 years of age with 70% of cases first presenting in childhood. The disease is more common in men, probably reflecting an ascertainment bias related to exposure to prolonged exercise. The clinical manifestations are characterized by recurrent attacks of rhabdomyolysis, muscle pain, and weakness triggered usually by prolonged physical exercise and sometimes exacerbated by extremes in temperature; episodes may also be provoked or exacerbated by prolonged fasting, such as may occur with intercurrent viral illness. Episodes of rhabdomyolysis may be associated with extreme elevation of serum creatine phosphokinase (CPK) and myoglobinuria (75% of cases) and can lead to renal failure (in 8-25% of cases, but rarely requiring dialysis). Patients are asymptomatic between episodes of rhabdomyolysis.
Etiology
Several missense mutations in the CPT2 gene result in the myopathic form of CPT II deficiency. In Caucasians, the most frequent mutation (60%) is the p.Ser113Leu mutation, which impairs enzyme stability.
Diagnostic methods
The diagnosis is made by an initial tandem mass spectrometry of serum/plasma acylcarnitines followed by mutation analysis and measurements of CPT2 enzyme activity in fresh circulating lymphocytes, muscle or fibroblasts.
Differential diagnosis
The differential diagnosis should include McArdle disease, Duchenne muscular dystrophy, cytochrome c oxidase deficiency (see these terms), complex II deficiency, complex III deficiency and rhabdomyolysis due to excessive exercise, infections, autoimmune reactions or drug-related neuroleptic syndrome among others.
Genetic counseling
Transmission is autosomal recessive. If the disease-causing mutations are identified in an affected individual, early diagnosis by molecular genetic testing can be offered to at-risk relatives to reduce morbidity and mortality.
Management and treatment
Treatment is based on avoidance of prolonged fasting (>12 hr) and a low-fat and high-carbohydrate diet combined with exercise restriction in order to avoid muscle pain and rhabdomyolysis. L-carnitine administration and anaplerotic diet therapy with triheptanoin have been suggested for treatment of the disease; however benefits have not been proven.
Prognosis
The myopathic form of CPT II has a good prognosis.

                            Last update: 
                            May 2010


                            - Expert reviewer(s): 
                            Pr Michael BENNETT  - Dr Charles STANLEY
Carnitine palmitoyl transferase II deficiency, neonatal form (ORPHA:228308)
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
Epidemiology
It is a rare form of CPT II deficiency that has been reported in less than 20 families.
Clinical description
Affected infants experience hypoketotic hypoglycemia, liver and respiratory failure and can present with cardiomyopathy, muscle hypotonia, liver calcification, cystic dysplastic kidneys and malformations of the brain due to a neuronal migration defect. Seizures and coma can occur as well as cardiac arrhythmias that generally lead to cardiac arrest in the perinatal/ early infantile period. Death occurs within days to months.
Etiology
The severe neonatal CPT II deficiency is caused by homozygous or compound heterozygous CPT2 mutations that typically result in complete loss of activity of the CPT II enzyme.
Diagnostic methods
The diagnosis is made by an initial tandem mass spectrometry of serum/plasma acylcarnitines followed by mutation analysis and measurements of CPTII enzyme activity in fresh circulating lymphocytes, muscle or skin fibroblasts.
Differential diagnosis
The differential diagnosis should include severe forms of carnitine-acylcarnitine translocase deficiency (CACT) and very-long-chain acyl-CoA dehydrogenase deficiency (see these terms).
Antenatal diagnosis
Prenatal diagnosis is available based on a combination of enzymatic and molecular testing (if mutations have been identified in the proband).
Genetic counseling
Transmission is autosomal recessive.
Management and treatment
Treatment is only symptomatic.
Prognosis
Prognosis is poor. The neonatal form is almost always lethal during the first months of life.

                            Last update: 
                            May 2010


                            - Expert reviewer(s): 
                            Pr Michael BENNETT  - Dr Charles STANLEY