{"Name":"Lymphedema praecox","DiseaseID__c":"GARD:0003324","id":3324,"encodedName":"lymphedema-praecox","IsDeleted":false,"Disease_Name_Full__c":"Lymphedema praecox","Xref_IDs__c":"400040008; C4746631; C562467; DOID:0070213; MEDGEN:1648463; MONDO:0007920; OMIM:153200; ORPHA:90186","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007920","Disease_Description__c":"Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.","GARD_Name__c":"Lymphedema praecox","GARD_Synonym__c":"hereditary lymphedema ii; hereditary lymphedema type ii; late-onset lymphedema; late-onset primary lymphedema; lmph2; lmphm5; lymphatic malformation 5; lymphedema preacox; lymphedema, late-onset; meige disease; meige lymphedema","Curated_Disease_Description_Source__c":"GARD:0003324","Curated_Disease_Description__c":"Meige disease is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). While the cause of Meige disease is unknown, it is thought to be genetic because it tends to run in families. It appears to have an autosomal dominant pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:90186","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007920","ORPHANET_ID__c":"ORPHA:90186","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de meige","Spanish_Description_Source__c":"ORPHA:90186","Spanish_Description__c":"Es una forma frecuente de linfedema primario de inicio tardío caracterizada por linfedema en las extremidades inferiores que se desarrolla típicamente en la pubertad.","Spanish_Disease_Name__c":"enfermedad de meige","Spanish_GARD_Synonym__c":"linfedema de meige; linfedema hereditario tipo ii","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":"Meige disease is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). While the cause of Meige disease is unknown, it is thought to be genetic because it tends to run in families. It appears to have an autosomal dominant pattern of inheritance.","Curated_Disease_Description_Source__c":"GARD:0003324","GARD_Synonym__c":"hereditary lymphedema ii; hereditary lymphedema type ii; late-onset lymphedema; late-onset primary lymphedema; lmph2; lmphm5; lymphatic malformation 5; lymphedema preacox; lymphedema, late-onset; meige disease; meige lymphedema","Name":"Lymphedema praecox","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lymphedema Family Study","Website__c":"http://lymphedema.pitt.edu/"},{"Account_Name__c":"Lymphatic Education and Research Network","Website__c":"https://lymphaticnetwork.org/"},{"Account_Name__c":"Lymphoedema Support Network","Website__c":"https://www.lymphoedema.org/"},{"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 Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"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":"Adolescent","Provided_By__c":"ORPHA:90186"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:90186"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003324","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4746631","Source__c":"C4746631","Xref__c":"C4746631"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400040008","Source__c":"MONDO:0007920","Xref__c":"400040008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070213","Source__c":"MONDO:0007920","Xref__c":"DOID:0070213"},{"URL__c":"https://www.orpha.net/en/disease/detail/90186","Source__c":"C4746631; MONDO:0007920","Xref__c":"ORPHA:90186"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648463","Source__c":"C4746631","Xref__c":"MEDGEN:1648463"},{"URL__c":"https://www.omim.org/entry/153200","Source__c":"C4746631; MONDO:0007920; ORPHA:90186","Xref__c":"OMIM:153200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562467","Source__c":"MONDO:0007920","Xref__c":"C562467"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007920","Source__c":"GARD:0003324","Xref__c":"MONDO:0007920"},{"URL__c":"https://medlineplus.gov/genetics/condition/meige-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EPHB4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90186","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012398","HPO_Name__c":"Peripheral edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","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:90186","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:90186","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031288","HPO_Name__c":"Cobblestone-like hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypically scarred skin .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000987","HPO_Synonym__c":"Atypical scarring; Atypical scarring of skin","HPO_Name__c":"Atypical scarring of skin","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the lymph nodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002732","HPO_Name__c":"Lymph node hypoplasia","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200058","HPO_Name__c":"Angiosarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","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:90186","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid and swelling in the tissues of the larynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012027","HPO_Name__c":"Laryngeal edema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","HPO_Frequency__c":"Frequent (30-79%)","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:90186","HPO_Frequency__c":"Frequent (30-79%)","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:90186","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010781","HPO_Synonym__c":"Skin dimples","HPO_Name__c":"Skin dimple","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","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:90186","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:90186","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002849","HPO_Synonym__c":"Lymph nodes lack germinal center; Lymphoid germinal center defect","HPO_Name__c":"Absence of lymph node germinal center","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Edema affecting the region situated around the orbit of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100539","HPO_Synonym__c":"Periorbital cellulitis","HPO_Name__c":"Periorbital edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90186","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005406","HPO_Synonym__c":"Recurrent bacterial skin infections; Recurrent cutaneous pyogenic infections; Recurrent episodes of impetigo; Recurrent episodes of infectious dermatitis; Recurrent pyogenic skin infections","HPO_Name__c":"Recurrent bacterial skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Vascular Neurology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["hereditary lymphedema ii"," hereditary lymphedema type ii"," late-onset lymphedema"," late-onset primary lymphedema"," lmph2"," lmphm5"," lymphatic malformation 5"," lymphedema preacox"," lymphedema, late-onset"," meige disease"," meige lymphedema"]}