{"Name":"Erythema palmare hereditarium","DiseaseID__c":"GARD:0017157","id":17157,"encodedName":"erythema-palmare-hereditarium","IsDeleted":false,"Disease_Name_Full__c":"Erythema palmare hereditarium","Xref_IDs__c":"763767006; C1851502; C565041; MEDGEN:343587; MONDO:0007570; OMIM:133000; ORPHA:231031","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007570","Disease_Description__c":"Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.","GARD_Name__c":"Erythema palmare hereditarium","GARD_Synonym__c":"lane disease; red palms disease","Curated_Disease_Description_Source__c":"MONDO:0007570","Curated_Disease_Description__c":"Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:231031","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007570","ORPHANET_ID__c":"ORPHA:231031","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Eritema palmar hereditario","Spanish_Description_Source__c":"ORPHA:231031","Spanish_Description__c":"El eritema palmar hereditario es un trastorno cutáneo genético congénito benigno y poco frecuente caracterizado por un eritema permanente y asintomático de las superficies palmares y, menos frecuentemente, de las plantares. En la mayoría de los casos, se presenta como un enrojecimiento muy bien delimitado de las eminencias tenares e hipotenares, así como de la cara palmar de las falanges, con máculas telangiectásicas dispersas que no causan ninguna sintomatología (dolor, picor o quemadura).","Spanish_Disease_Name__c":"eritema palmar hereditario","Spanish_GARD_Synonym__c":"enfermedad de lane; síndrome de las palmas rojas","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":"Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.","Curated_Disease_Description_Source__c":"MONDO:0007570","GARD_Synonym__c":"lane disease; red palms disease","Name":"Erythema palmare hereditarium","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"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":"Neonatal","Provided_By__c":"ORPHA:231031"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231031"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/133000","Source__c":"C1851502; MONDO:0007570; ORPHA:231031","Xref__c":"OMIM:133000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763767006","Source__c":"C1851502; MONDO:0007570","Xref__c":"763767006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343587","Source__c":"C1851502","Xref__c":"MEDGEN:343587"},{"URL__c":"https://www.orpha.net/en/disease/detail/231031","Source__c":"C1851502; MONDO:0007570; ORPHA:231031","Xref__c":"ORPHA:231031"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565041","Source__c":"MONDO:0007570","Xref__c":"C565041"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851502","Source__c":"C1851502","Xref__c":"C1851502"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007570","Source__c":"GARD:0017157","Xref__c":"MONDO:0007570"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:133000","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["lane disease"," red palms disease"]}