{"Name":"Familial juvenile hypertrophy of the breast","DiseaseID__c":"GARD:0009450","id":9450,"encodedName":"familial-juvenile-hypertrophy-of-the-breast","IsDeleted":false,"Disease_Name_Full__c":"Familial juvenile hypertrophy of the breast","Xref_IDs__c":"C0405471; C536821; MEDGEN:140798; MONDO:0007237; OMIM:113670; ORPHA:180176","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":4,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007237","Disease_Description__c":"A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.","GARD_Name__c":"Familial juvenile hypertrophy of the breast","GARD_Synonym__c":"adolescent macromastia; diffuse hypertrophy of breast; familial juvenile gigantomastia; gigantomastia, juvenile; hypertrophy of the breast, juvenile; juvenile gigantomastia; juvenile macromastia; juvenile mammary hypertrophy; pubertal breast hypertrophy; virginal breast hypertrophy; virginal mammary hypertrophy","Curated_Disease_Description_Source__c":"GARD:0009450","Curated_Disease_Description__c":"Familial juvenile hypertrophy of the breast is a rare condition characterized by excessive breast growth. Symptoms of familial juvenile hypertrophy of the breast may include mastalgia (breast pain), ulceration/infection, posture problems, back pain and chronic traction injury to 4th/5th/6th intercostal nerves with resultant loss of nipple sensation. The exact cause of familial juvenile hypertrophy of the breast is not known; however, hormonal and hereditary factors may be involved.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:180176","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007237","ORPHANET_ID__c":"ORPHA:180176","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertrofia juvenil familiar de la mama","Spanish_Description_Source__c":"ORPHA:180176","Spanish_Description__c":"Es un trastorno malformativo de la mama poco frecuente caracterizado por agrandamiento masivo de la(s) mama(s) en mujeres peripúberes, rápido, incontrolado, simétrico o asimétrico, uni- o bilateral, que se presenta en varios miembros de una familia. Otras manifestaciones adicionales pueden incluir hiperemia cutánea, venas subcutáneas dilatadas, necrosis cutánea, cifosis, lordosis y anoniquia. El crecimiento y el desarrollo son normales.","Spanish_Disease_Name__c":"hipertrofia juvenil familiar de la mama","Spanish_GARD_Synonym__c":"gigantomastia","Category_Linearization__c":"ORPHA:96344","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":"Familial juvenile hypertrophy of the breast is a rare condition characterized by excessive breast growth. Symptoms of familial juvenile hypertrophy of the breast may include mastalgia (breast pain), ulceration/infection, posture problems, back pain and chronic traction injury to 4th/5th/6th intercostal nerves with resultant loss of nipple sensation. The exact cause of familial juvenile hypertrophy of the breast is not known; however, hormonal and hereditary factors may be involved.","Curated_Disease_Description_Source__c":"GARD:0009450","GARD_Synonym__c":"adolescent macromastia; diffuse hypertrophy of breast; familial juvenile gigantomastia; gigantomastia, juvenile; hypertrophy of the breast, juvenile; juvenile gigantomastia; juvenile macromastia; juvenile mammary hypertrophy; pubertal breast hypertrophy; virginal breast hypertrophy; virginal mammary hypertrophy","Name":"Familial juvenile hypertrophy of the breast","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/180176","Source__c":"C0405471; MONDO:0007237","Xref__c":"ORPHA:180176"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0405471","Source__c":"C0405471","Xref__c":"C0405471"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140798","Source__c":"C0405471","Xref__c":"MEDGEN:140798"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536821","Source__c":"MONDO:0007237","Xref__c":"C536821"},{"URL__c":"https://www.omim.org/entry/113670","Source__c":"C0405471; MONDO:0007237; ORPHA:180176","Xref__c":"OMIM:113670"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007237","Source__c":"GARD:0009450","Xref__c":"MONDO:0007237"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=198113009","Source__c":"C0405471","Xref__c":"198113009"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:113670","Feature__r":{"HPO_Description__c":"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000765","HPO_Synonym__c":"Abnormality of the chest; Abnormality of the thorax; Structural abnormality of the chest wall","HPO_Name__c":"Abnormal thorax morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Urogenital Disorders"],"Specialist":["Obstetrics / Gynecology"]},"synonyms":["adolescent macromastia"," diffuse hypertrophy of breast"," familial juvenile gigantomastia"," gigantomastia, juvenile"," hypertrophy of the breast, juvenile"," juvenile gigantomastia"," juvenile macromastia"," juvenile mammary hypertrophy"," pubertal breast hypertrophy"," virginal breast hypertrophy"," virginal mammary hypertrophy"]}