{"Name":"Palmoplantar keratoderma-esophageal carcinoma syndrome","DiseaseID__c":"GARD:0003102","id":3102,"encodedName":"palmoplantar-keratoderma-esophageal-carcinoma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Palmoplantar keratoderma-esophageal carcinoma syndrome","Xref_IDs__c":"111030006; C1835664; C536164; DOID:0111506; MEDGEN:324338; MONDO:0007856; OMIM:148500; ORPHA:2198","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007856","Disease_Description__c":"An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.","GARD_Name__c":"Palmoplantar keratoderma-esophageal carcinoma syndrome","GARD_Synonym__c":"bennion patterson syndrome; bennion-patterson syndrome; howel evans syndrome; howel-evans-clark syndrome; howel-evans' syndrome; howell-evans syndrome; keratoderma with carcinoma of esophagus; keratosis palmaris et plantaris with esophageal cancer; keratosis palmoplantaris esophageal carcinoma syndrome; keratosis palmoplantaris-esophageal carcinoma syndrome; palmoplantar hyperkeratosis esophageal carcinoma syndrome; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; palmoplantar keratoderma esophageal carcinoma syndrome; palmoplantar keratoderma with esophageal cancer; toc; tylosis esophageal carcinoma syndrome; tylosis with esophageal cancer; tylosis-oesophageal carcinoma syndrome","Curated_Disease_Description_Source__c":"GARD:0003102","Curated_Disease_Description__c":"Palmoplantar keratoderma-esophageal carcinoma syndrome (also known as Tylosis with esophageal cancer or TOC) is an inherited condition that increases the risk for esophageal cancer. The symptoms of TOC include thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and white lesions inside the mouth. People with TOC are at very high risk to develop esophageal cancer. The palmoplantar keratoderma usually occurs in childhood, and esophageal cancer usually occurs in adulthood. TOC is caused by a variant in the RHBDF2 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and family history. The diagnosis may be confirmed by the results of genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:2198","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007856","ORPHANET_ID__c":"ORPHA:2198","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de queratodermia palmoplantar-carcinoma esofágico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de queratodermia palmoplantar-carcinoma esofágico","Spanish_GARD_Synonym__c":"síndrome de bennion-patterson; síndrome de hiperqueratosis palmoplantar-carcinoma esofágico; síndrome de howell-evans; síndrome de queratosis palmoplantar-carcinoma esofágico; tilosis-carcinoma esofágico","Category_Linearization__c":"ORPHA:89826","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":"Palmoplantar keratoderma-esophageal carcinoma syndrome (also known as Tylosis with esophageal cancer or TOC) is an inherited condition that increases the risk for esophageal cancer. The symptoms of TOC include thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and white lesions inside the mouth. People with TOC are at very high risk to develop esophageal cancer. The palmoplantar keratoderma usually occurs in childhood, and esophageal cancer usually occurs in adulthood. TOC is caused by a variant in the RHBDF2 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and family history. The diagnosis may be confirmed by the results of genetic testing.","Curated_Disease_Description_Source__c":"GARD:0003102","GARD_Synonym__c":"bennion patterson syndrome; bennion-patterson syndrome; howel evans syndrome; howel-evans-clark syndrome; howel-evans' syndrome; howell-evans syndrome; keratoderma with carcinoma of esophagus; keratosis palmaris et plantaris with esophageal cancer; keratosis palmoplantaris esophageal carcinoma syndrome; keratosis palmoplantaris-esophageal carcinoma syndrome; palmoplantar hyperkeratosis esophageal carcinoma syndrome; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; palmoplantar keratoderma esophageal carcinoma syndrome; palmoplantar keratoderma with esophageal cancer; toc; tylosis esophageal carcinoma syndrome; tylosis with esophageal cancer; tylosis-oesophageal carcinoma syndrome","Name":"Palmoplantar keratoderma-esophageal carcinoma syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2198"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2198"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1835664"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003102","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/148500","Source__c":"C1835664; MONDO:0007856; ORPHA:2198","Xref__c":"OMIM:148500"},{"URL__c":"https://www.orpha.net/en/disease/detail/2198","Source__c":"C1835664; MONDO:0007856; ORPHA:2198","Xref__c":"ORPHA:2198"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111506","Source__c":"MONDO:0007856","Xref__c":"DOID:0111506"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835664","Source__c":"C1835664","Xref__c":"C1835664"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324338","Source__c":"C1835664","Xref__c":"MEDGEN:324338"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111030006","Source__c":"C1835664; MONDO:0007856","Xref__c":"111030006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536164","Source__c":"MONDO:0007856","Xref__c":"C536164"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007856","Source__c":"GARD:0003102","Xref__c":"MONDO:0007856"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RHBDF2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any physiological abnormality of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025270","HPO_Synonym__c":"Abnormality of esophagus physiology; Functional abnormality of the esophagus","HPO_Name__c":"Abnormal esophagus physiology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100751","HPO_Synonym__c":"Esophageal tumor","HPO_Name__c":"Esophageal neoplasm","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Very frequent (80-99%)","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:2198","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the central compartment of the thoracic cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045026","HPO_Synonym__c":"Abnormality of the mediastinum","HPO_Name__c":"Abnormal mediastinum morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002033","HPO_Synonym__c":"Poor suck; Poor sucking; Sucking weakness","HPO_Name__c":"Poor suck","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Terminal broadening of the toes (distal phalanges of the toes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100760","HPO_Name__c":"Clubbing of toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2198","HPO_Frequency__c":"Frequent (30-79%)","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:2198","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002250","HPO_Synonym__c":"Abnormality of the large intestine","HPO_Name__c":"Abnormal large intestine morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology","Dermatology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Dermatology"],"Account":["Dermatology"]},"synonyms":["bennion patterson syndrome"," bennion-patterson syndrome"," howel evans syndrome"," howel-evans-clark syndrome"," howel-evans' syndrome"," howell-evans syndrome"," keratoderma with carcinoma of esophagus"," keratosis palmaris et plantaris with esophageal cancer"," keratosis palmoplantaris esophageal carcinoma syndrome"," keratosis palmoplantaris-esophageal carcinoma syndrome"," palmoplantar hyperkeratosis esophageal carcinoma syndrome"," palmoplantar hyperkeratosis-esophageal carcinoma syndrome"," palmoplantar keratoderma esophageal carcinoma syndrome"," palmoplantar keratoderma with esophageal cancer"," toc"," tylosis esophageal carcinoma syndrome"," tylosis with esophageal cancer"," tylosis-oesophageal carcinoma syndrome"]}