{"Name":"Scleromyxedema","DiseaseID__c":"GARD:0007615","id":7615,"encodedName":"scleromyxedema","IsDeleted":false,"Disease_Name_Full__c":"Scleromyxedema","Xref_IDs__c":"402468007; C0263390; C85061; D053718; MEDGEN:120476; MONDO:0015665; ORPHA:167635","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015665","Disease_Description__c":"Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.","GARD_Name__c":"Scleromyxedema","GARD_Synonym__c":"arndt-gottron disease; arndt-gottron syndrome; generalised lichenoid papular eruption; generalised papular and sclerodermoid lichen myxedematosus; generalized lichenoid papular eruption; generalized papular and sclerodermoid lichen myxedematosus; scleromyxoedema","Curated_Disease_Description_Source__c":"GARD:0007615","Curated_Disease_Description__c":"Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of Scleromyxedema is not known.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:167635","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015665","ORPHANET_ID__c":"ORPHA:167635","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Escleromixedema","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"escleromixedema","Spanish_GARD_Synonym__c":"enfermedad de arndt-gottron; erupción papular liquenoide generalizada; líquen mixedematoso generalizado papular y esclerodermoide; mixedematosis papular y esclerodermoide generalizada","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":"Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of Scleromyxedema is not known.","Curated_Disease_Description_Source__c":"GARD:0007615","GARD_Synonym__c":"arndt-gottron disease; arndt-gottron syndrome; generalised lichenoid papular eruption; generalised papular and sclerodermoid lichen myxedematosus; generalized lichenoid papular eruption; generalized papular and sclerodermoid lichen myxedematosus; scleromyxoedema","Name":"Scleromyxedema","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:167635"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0263390","Source__c":"C0263390","Xref__c":"C0263390"},{"URL__c":"https://www.orpha.net/en/disease/detail/167635","Source__c":"C0263390; MONDO:0015665; ORPHA:167635","Xref__c":"ORPHA:167635"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=402468007","Source__c":"C0263390; MONDO:0015665","Xref__c":"402468007"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85061","Source__c":"C0263390; MONDO:0015665","Xref__c":"C85061"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120476","Source__c":"C0263390","Xref__c":"MEDGEN:120476"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C053718","Source__c":"C0263390; MONDO:0015665","Xref__c":"D053718"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015665","Source__c":"GARD:0007615","Xref__c":"MONDO:0015665"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:167635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; 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This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:167635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:167635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An induration (hardening) of the skin","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030053","HPO_Synonym__c":"Indurated skin; Skin induration; Stiff skin","HPO_Name__c":"Stiff skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:167635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:167635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. 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