{"Name":"GJC2-related late-onset primary lymphedema","DiseaseID__c":"GARD:0022299","id":22299,"encodedName":"gjc2-related-late-onset-primary-lymphedema","IsDeleted":false,"Disease_Name_Full__c":"GJC2-related late-onset primary lymphedema","Xref_IDs__c":"1222670005; C5681305; MEDGEN:1809328; MONDO:0035472; ORPHA:568051","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0035472","Disease_Description__c":"A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.","GARD_Name__c":"GJC2-related late-onset primary lymphedema","GARD_Synonym__c":"gap junction protein gamma 2-related late-onset primary lymphedema","Curated_Disease_Description_Source__c":"MONDO:0035472","Curated_Disease_Description__c":"A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:568051","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035472","ORPHANET_ID__c":"ORPHA:568051","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Linfedema primario de inicio tardío asociado al gen gjc2","Spanish_Description_Source__c":"ORPHA:568051","Spanish_Description__c":"Es un linfedema primario de origen genético poco frecuente caracterizado por linfedema en todas las extremidades con una edad de inicio variable desde el nacimiento hasta la edad adulta. Las manifestaciones presentan una gravedad variable y la afectación de las extremidades superiores puede presentarse únicamente en etapasa avanzadas de la enfermedad. En casos graves, se observa episodios recurrentes de celulitis y de infecciones cutáneas. Se ha descrito la asociación con venas varicosas e incompetencia venosa.","Spanish_Disease_Name__c":"linfedema primario de inicio tardío asociado al gen gjc2","Spanish_GARD_Synonym__c":null,"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 genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.","Curated_Disease_Description_Source__c":"MONDO:0035472","GARD_Synonym__c":"gap junction protein gamma 2-related late-onset primary lymphedema","Name":"GJC2-related late-onset primary lymphedema","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Lymphedema Network","Website__c":"https://lymphnet.org/"}],"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":"Adult","Provided_By__c":"ORPHA:568051"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:568051"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:568051"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/568051","Source__c":"C5681305; MONDO:0035472; ORPHA:568051","Xref__c":"ORPHA:568051"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681305","Source__c":"C5681305","Xref__c":"C5681305"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1809328","Source__c":"C5681305","Xref__c":"MEDGEN:1809328"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1222670005","Source__c":"C5681305","Xref__c":"1222670005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035472","Source__c":"GARD:0022299","Xref__c":"MONDO:0035472"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJC2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjc2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005293","HPO_Synonym__c":"Poorly functioning veins","HPO_Name__c":"Venous insufficiency","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000282","HPO_Synonym__c":"Facial puffiness; Facial swelling; Swelling of the face","HPO_Name__c":"Facial edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A buildup of fluid that causes swelling in the soft tissues of the genital area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031188","HPO_Name__c":"Genital edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bacterial infection and inflammation of the skin und subcutaneous tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100658","HPO_Synonym__c":"Bacterial infection of skin; Skin infection","HPO_Name__c":"Cellulitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010741","HPO_Synonym__c":"Edema of the lower limbs; Fluid accumulation in lower limbs; Leg edema; Lower leg swelling; Peripheral edema of lower extremity","HPO_Name__c":"Pedal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlarged and tortuous veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002619","HPO_Name__c":"Varicose veins","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the vessel that contains or conveys lymph fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100766","HPO_Synonym__c":"Abnormality of the lymphatic vessels","HPO_Name__c":"Abnormal lymphatic vessel morphology","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003550","HPO_Name__c":"Predominantly lower limb lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001785","HPO_Synonym__c":"Ankle swelling","HPO_Name__c":"Ankle swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin on the back of the hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007514","HPO_Synonym__c":"Edema of dorsum of hands","HPO_Name__c":"Edema of the dorsum of hands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:568051","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital underdevelopment of lymph vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003759","HPO_Synonym__c":"Underdeveloped lymphatic vessels","HPO_Name__c":"Hypoplasia of lymphatic vessels","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["gap junction protein gamma 2-related late-onset primary lymphedema"]}