{"Name":"Congenital primary lymphedema of Gordon","DiseaseID__c":"GARD:0022307","id":22307,"encodedName":"congenital-primary-lymphedema-of-gordon","IsDeleted":false,"Disease_Name_Full__c":"Congenital primary lymphedema of Gordon","Xref_IDs__c":"1222669009; C5680138; MEDGEN:1804948; MONDO:0035500; ORPHA:569821","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":6,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0035500","Disease_Description__c":"A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.","GARD_Name__c":"Congenital primary lymphedema of Gordon","GARD_Synonym__c":"vegfc-related congenital primary lymphedema","Curated_Disease_Description_Source__c":"MONDO:0035500","Curated_Disease_Description__c":"A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:569821","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035500","ORPHANET_ID__c":"ORPHA:569821","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Linfedema primario congénito de gordon","Spanish_Description_Source__c":"ORPHA:569821","Spanish_Description__c":"Es un linfedema primario poco frecuente caracterizado por una inflamación bilateral e indolora de las extremidades inferiores presente al nacimiento. También se ha descrito venas prominentes alrededor de los tobillos y en la planta de los pies, uñas de los pies displásicas y ascendentes debido al edema del lecho ungueal y leves rasgos faciales dismórficos (como frente ancha, hipertelorismo, puente nasal deprimido, leve displasia bilateral del oído y cuello corto). El grado de afectación linfática es menor que en la enfermedad de Milroy, clínicamente similar, mostrando un linfedema ligeramente menos grave y una captación significativamente mayor de trazador en la linfogammagrafía.","Spanish_Disease_Name__c":"linfedema primario congénito de gordon","Spanish_GARD_Synonym__c":"linfedema primario congénito asociado a vegfc; linfedema primario congénito asociado al gen vegfc","Category_Linearization__c":"ORPHA:93890","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 primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.","Curated_Disease_Description_Source__c":"MONDO:0035500","GARD_Synonym__c":"vegfc-related congenital primary lymphedema","Name":"Congenital primary lymphedema of Gordon","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:569821"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:569821"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:569821"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:569821"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:569821"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1804948","Source__c":"C5680138","Xref__c":"MEDGEN:1804948"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680138","Source__c":"C5680138","Xref__c":"C5680138"},{"URL__c":"https://www.orpha.net/en/disease/detail/569821","Source__c":"C5680138; MONDO:0035500; ORPHA:569821","Xref__c":"ORPHA:569821"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035500","Source__c":"GARD:0022307","Xref__c":"MONDO:0035500"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1222669009","Source__c":"C5680138","Xref__c":"1222669009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"VEGFC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["vegfc-related congenital primary lymphedema"]}