{"Name":"Plummer-Vinson syndrome","DiseaseID__c":"GARD:0008259","id":8259,"encodedName":"plummer-vinson-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Plummer-Vinson syndrome","Xref_IDs__c":"80126007; C0032249; C85016; D011004; D50.1; MEDGEN:45967; MONDO:0018895; ORPHA:54028","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018895","Disease_Description__c":"Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.","GARD_Name__c":"Plummer-Vinson syndrome","GARD_Synonym__c":"brown-kelly-paterson syndrome; kelly-paterson syndrome; paterson-kelly syndrome; paterson's syndrome; plummer-vinson-patterson-kelly syndrome; sideropenic dysphagia","Curated_Disease_Description_Source__c":"MONDO:0018895","Curated_Disease_Description__c":"Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:54028","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018895","ORPHANET_ID__c":"ORPHA:54028","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de plummer-vinson","Spanish_Description_Source__c":"ORPHA:54028","Spanish_Description__c":"El síndrome de Plummer-Vinson o de Paterson-Kelly se presenta mediante la clásica triada de disfagia, anemia por deficiencia de hierro y membranas esofágicas.","Spanish_Disease_Name__c":"síndrome de plummer-vinson","Spanish_GARD_Synonym__c":"disfagia sideropénica; síndrome de kelly-paterson","Category_Linearization__c":"ORPHA:97992","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":"Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.","Curated_Disease_Description_Source__c":"MONDO:0018895","GARD_Synonym__c":"brown-kelly-paterson syndrome; kelly-paterson syndrome; paterson-kelly syndrome; paterson's syndrome; plummer-vinson-patterson-kelly syndrome; sideropenic dysphagia","Name":"Plummer-Vinson syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation of Swallowing Disorders","Website__c":"https://swallowingdisorderfoundation.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:54028"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85016","Source__c":"C0032249; MONDO:0018895","Xref__c":"C85016"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=80126007","Source__c":"C0032249; MONDO:0018895","Xref__c":"80126007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C011004","Source__c":"C0032249; MONDO:0018895","Xref__c":"D011004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0032249","Source__c":"C0032249","Xref__c":"C0032249"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=45967","Source__c":"C0032249","Xref__c":"MEDGEN:45967"},{"URL__c":"https://www.orpha.net/en/disease/detail/54028","Source__c":"C0032249; MONDO:0018895; ORPHA:54028","Xref__c":"ORPHA:54028"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018895","Source__c":"GARD:0008259","Xref__c":"MONDO:0018895"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D50.1","Source__c":"MONDO:0018895","Xref__c":"D50.1"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001891","HPO_Synonym__c":"Ferropenic; Iron-deficiency anemia","HPO_Name__c":"Iron deficiency anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000206","HPO_Synonym__c":"Inflammation of the tongue; Lingual inflammation; Smooth swollen tongue","HPO_Name__c":"Glossitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100825","HPO_Synonym__c":"Inflammation of the lips","HPO_Name__c":"Cheilitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to fatigue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003388","HPO_Name__c":"Easy fatigability","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The practice of eating earth or soil-like substrates such as clay or chalk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025062","HPO_Synonym__c":"Geophagy","HPO_Name__c":"Geophagia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Wasting of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012473","HPO_Synonym__c":"Atrophy of the tongue; Lingual atrophy; Lingual wasting; Wasting of the tongue","HPO_Name__c":"Tongue atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012343","HPO_Synonym__c":"Decreased plasma ferritin; Decreased serum ferritin; Low ferritin level; Reduced serum ferritin","HPO_Name__c":"Decreased circulating ferritin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100594","HPO_Name__c":"Esophageal web","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced desire to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004396","HPO_Synonym__c":"Decreased appetite; Loss of appetite; Poor appetite","HPO_Name__c":"Poor appetite","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004840","HPO_Synonym__c":"Hypochromic, microcytic anemia","HPO_Name__c":"Hypochromic microcytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The natural longitudinal (posterodistal) convex arch is not present or is inverted.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001598","HPO_Synonym__c":"Koilonychia; Spoon-shaped nails","HPO_Name__c":"Concave nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased pigmentation, either focal or generalized, of the mucosa of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010284","HPO_Synonym__c":"Hyperpigmentation of oral mucosa; Oral mucosa melanin pigmentation; Oral racial pigmentation","HPO_Name__c":"Intra-oral hyperpigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54028","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Gastroenterology","Hematology"],"Specialist":["Gastroenterology","Hematology"]},"synonyms":["brown-kelly-paterson syndrome"," kelly-paterson syndrome"," paterson-kelly syndrome"," paterson's syndrome"," plummer-vinson-patterson-kelly syndrome"," sideropenic dysphagia"]}