{"Name":"Steatocystoma multiplex","DiseaseID__c":"GARD:0005003","id":5003,"encodedName":"steatocystoma-multiplex","IsDeleted":false,"Disease_Name_Full__c":"Steatocystoma multiplex","Xref_IDs__c":"109433009; C0259771; D062685; DOID:0111556; HP:0012035; L72.2; MEDGEN:75476; MONDO:0008485; OMIM:184500; ORPHA:841","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008485","Disease_Description__c":"Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.","GARD_Name__c":"Steatocystoma multiplex","GARD_Synonym__c":"disseminated sebocystomatosis; hereditary epidermal polycystic disease; sebocystomatosis","Curated_Disease_Description_Source__c":"GARD:0005003","Curated_Disease_Description__c":"Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum. In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:841","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008485","ORPHANET_ID__c":"ORPHA:841","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sebocistomatosis","Spanish_Description_Source__c":"ORPHA:841","Spanish_Description__c":"La sebocistomatosis se caracteriza por la presencia de quistes cutáneos asintomáticos múltiples (100 a 200) en, generalmente, la región esternal, la parte superior de la espalda, las axilas y la parte proximal de las extremidades.","Spanish_Disease_Name__c":"sebocistomatosis","Spanish_GARD_Synonym__c":"esteatocistoma múltiple","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":"Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum. In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.","Curated_Disease_Description_Source__c":"GARD:0005003","GARD_Synonym__c":"disseminated sebocystomatosis; hereditary epidermal polycystic disease; sebocystomatosis","Name":"Steatocystoma multiplex","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:841"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:841"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:841"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0259771"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005003","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0259771","Source__c":"C0259771","Xref__c":"C0259771"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109433009","Source__c":"C0259771; MONDO:0008485","Xref__c":"109433009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111556","Source__c":"MONDO:0008485","Xref__c":"DOID:0111556"},{"URL__c":"https://www.omim.org/entry/184500","Source__c":"C0259771; MONDO:0008485; ORPHA:841","Xref__c":"OMIM:184500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75476","Source__c":"C0259771","Xref__c":"MEDGEN:75476"},{"URL__c":"https://www.orpha.net/en/disease/detail/841","Source__c":"C0259771; MONDO:0008485; ORPHA:841","Xref__c":"ORPHA:841"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C062685","Source__c":"C0259771","Xref__c":"D062685"},{"URL__c":"https://medlineplus.gov/genetics/condition/steatocystoma-multiplex","Source__c":"GARD:0005003","Xref__c":"https://medlineplus.gov/genetics/condition/steatocystoma-multiplex"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012035","Source__c":"C0259771","Xref__c":"HP:0012035"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008485","Source__c":"GARD:0005003","Xref__c":"MONDO:0008485"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L72.2","Source__c":"MONDO:0008485","Xref__c":"L72.2"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT17","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt17","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:841","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012035","HPO_Name__c":"Steatocystoma multiplex","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:841","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009720","HPO_Synonym__c":"Facial angiofibromas; Sebaceous adenoma","HPO_Name__c":"Adenoma sebaceum","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:841","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["disseminated sebocystomatosis"," hereditary epidermal polycystic disease"," sebocystomatosis"]}