{"Name":"Carcinoid syndrome","DiseaseID__c":"GARD:0005994","id":5994,"encodedName":"carcinoid-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Carcinoid syndrome","Xref_IDs__c":"35868009; C0024586; C3215; E34.0; MEDGEN:6191; MONDO:0100347; ORPHA:100093","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"GARD:0005994","Disease_Description__c":"Carcinoid syndrome refers to a group of symptoms that are associated with carcinoid tumors (rare, slow-growing tumors that occur most frequently in the gastroinestinal tract or lungs). Affected people may experience skin flushing, abdominal pain, diarrhea, difficulty breathing, rapid heart rate, low blood pressure, skin lesions on the face (telangiectasias), and wheezing. In later stages, Carcinoid syndrome may damage the heart valves. The condition occurs when the carcinoid tumor secretes serotonin or other chemicals into the bloodstream.","GARD_Name__c":"Carcinoid syndrome","GARD_Synonym__c":"carcinoid tumor syndrome; excessive serotonin secretion; hormonal tumor; hormone secretion by carcinoid tumor; malignant carcinoid syndrome","Curated_Disease_Description_Source__c":"GARD:0005994","Curated_Disease_Description__c":"A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:100093","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100347","ORPHANET_ID__c":"ORPHA:100093","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome carcinoide","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome carcinoide","Spanish_GARD_Synonym__c":"síndrome carcinoide maligno","Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.","Curated_Disease_Description_Source__c":"GARD:0005994","GARD_Synonym__c":"carcinoid tumor syndrome; excessive serotonin secretion; hormonal tumor; hormone secretion by carcinoid tumor; malignant carcinoid syndrome","Name":"Carcinoid syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Carcinoid Cancer Foundation","Website__c":"https://www.carcinoid.org/"},{"Account_Name__c":"Neuroendocrine Tumor Research Foundation","Website__c":"https://netrf.org/"},{"Account_Name__c":"Canadian NeuroEndocrine Tumour Society","Website__c":"https://cnets.ca/"},{"Account_Name__c":"The Healing NET Foundation","Website__c":"https://www.thehealingnet.org/"},{"Account_Name__c":"Learn Advocate Connect Neuroendocrine Tumor Society","Website__c":"https://www.lacnets.org/"},{"Account_Name__c":"NorCal CarciNet Community","Website__c":"https://norcalcarcinet.org/"},{"Account_Name__c":"International Neuroendocrine Cancer Alliance","Website__c":"https://incalliance.org/"},{"Account_Name__c":"Neuroendocrine Cancer Awareness Network","Website__c":"https://www.netcancerawareness.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:100093"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005994","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3215","Source__c":"C0024586; MONDO:0100347","Xref__c":"C3215"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0024586","Source__c":"C0024586","Xref__c":"C0024586"},{"URL__c":"https://www.orpha.net/en/disease/detail/100093","Source__c":"C0024586; MONDO:0100347; ORPHA:100093","Xref__c":"ORPHA:100093"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6191","Source__c":"C0024586","Xref__c":"MEDGEN:6191"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E34.0","Source__c":"MONDO:0100347","Xref__c":"E34.0"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=35868009","Source__c":"C0024586; MONDO:0100347","Xref__c":"35868009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100347","Source__c":"GARD:0005994","Xref__c":"MONDO:0100347"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008303","Source__c":"C0024586","Xref__c":"D008303"},{"URL__c":"https://www.fda.gov/media/171499/download?attachment"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025474","HPO_Name__c":"Erythematous plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030148","HPO_Synonym__c":"Cardiac murmur; Cardiac murmurs; Heart murmur; Heart murmurs","HPO_Name__c":"Heart murmur","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased discharge of mucus from the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031417","HPO_Synonym__c":"Nasal Discharge; Runny Nose","HPO_Name__c":"Rhinorrhea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A increased concentration of serotonin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003144","HPO_Synonym__c":"Increased serum serotonin","HPO_Name__c":"Increased serum serotonin","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000007","HPO_Synonym__c":"Bronchial constriction; Bronchospasm; Constriction of the bronchi","HPO_Name__c":"Bronchoconstriction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased lacrimation, that is, excessive tearing (watering eye).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009926","HPO_Synonym__c":"Increased lacrimation; Increased tears; Tearing; Watery eyes","HPO_Name__c":"Epiphora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of cell death (necrosis) affecting the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002605","HPO_Name__c":"Hepatic necrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002099","HPO_Synonym__c":"Asthma; Bronchial asthma","HPO_Name__c":"Asthma","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100570","HPO_Synonym__c":"Carcinoid","HPO_Name__c":"Carcinoid tumor","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006722","HPO_Name__c":"Small intestine carcinoid","Feature_System__c":"Nervous System; Endocrine System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031138","HPO_Synonym__c":"Abnormal B-type natriuretic peptide level","HPO_Name__c":"Abnormal circulating B-type natriuretic peptide concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030145","HPO_Synonym__c":"Lack of bowel sounds","HPO_Name__c":"Lack of bowel sounds","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001962","HPO_Synonym__c":"Heart palpitations; Missed heart beat; Palpitations; Skipped heart beat","HPO_Name__c":"Palpitations","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic form of lymphadenopathy that is not related to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002730","HPO_Name__c":"Chronic noninfectious lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030446","HPO_Name__c":"Atypical pulmonary carcinoid tumor","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002668","HPO_Synonym__c":"Carotid body tumors; Paragangliomas","HPO_Name__c":"Paraganglioma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006723","HPO_Name__c":"Intestinal carcinoid","Feature_System__c":"Nervous System; Endocrine System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007380","HPO_Synonym__c":"Facial telangiectatic vessels; Telangiectasia, facial","HPO_Name__c":"Facial telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001708","HPO_Synonym__c":"Impaired right ventricular function; Right ventricular impairment; Right-sided heart failure","HPO_Name__c":"Right ventricular failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Occurrence of excessive sweating during sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030166","HPO_Synonym__c":"Night sweats; Nocturnal hyperhidrosis","HPO_Name__c":"Night sweats","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005180","HPO_Synonym__c":"Tricuspid insufficiency; Tricuspid valve regurgitation","HPO_Name__c":"Tricuspid regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004385","HPO_Name__c":"Protracted diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An intermittent form of abdominal pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002574","HPO_Name__c":"Episodic abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100093","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030445","HPO_Synonym__c":"Lung carcinoid tumor","HPO_Name__c":"Pulmonary carcinoid tumor","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Endocrine","Pediatrics"],"Disease Category":["Cancer","Endocrine"]},"synonyms":["carcinoid tumor syndrome"," excessive serotonin secretion"," hormonal tumor"," hormone secretion by carcinoid tumor"," malignant carcinoid syndrome"]}