{"Name":"Erythroderma desquamativum","DiseaseID__c":"GARD:0006878","id":6878,"encodedName":"erythroderma-desquamativum","IsDeleted":false,"Disease_Name_Full__c":"Erythroderma desquamativum","Xref_IDs__c":"C535512; C5551904; MEDGEN:1790529; MONDO:0017787; ORPHA:314","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:314","Disease_Description__c":"A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly <i>Staphylococcus aureus</i>, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.","GARD_Name__c":"Erythroderma desquamativum","GARD_Synonym__c":"generalized seborrheic dermatitis of infants; infantile seborrheic dermatitis; leiner disease; leiner's disease","Curated_Disease_Description_Source__c":"ORPHA:314","Curated_Disease_Description__c":"A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly Staphylococcus aureus, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:314","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017787","ORPHANET_ID__c":"ORPHA:314","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Eritrodermia descamativa de leiner-moussous","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"eritrodermia descamativa de leiner-moussous","Spanish_GARD_Synonym__c":null,"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":"A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly Staphylococcus aureus, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.","Curated_Disease_Description_Source__c":"ORPHA:314","GARD_Synonym__c":"generalized seborrheic dermatitis of infants; infantile seborrheic dermatitis; leiner disease; leiner's disease","Name":"Erythroderma desquamativum","estimateUsa":""}],"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":"Infancy","Provided_By__c":"ORPHA:314"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0343047"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535512","Source__c":"MONDO:0017787","Xref__c":"C535512"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5551904","Source__c":"C5551904","Xref__c":"C5551904"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1790529","Source__c":"C5551904","Xref__c":"MEDGEN:1790529"},{"URL__c":"https://www.orpha.net/en/disease/detail/314","Source__c":"C5551904; MONDO:0017787; ORPHA:314","Xref__c":"ORPHA:314"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017787","Source__c":"GARD:0006878","Xref__c":"MONDO:0017787"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=7297005","Source__c":"C5551904","Xref__c":"7297005"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:314","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010978","HPO_Name__c":"Abnormality of immune system physiology","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001051","HPO_Synonym__c":"Seborrhea; Seborrheic eczema","HPO_Name__c":"Seborrheic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["generalized seborrheic dermatitis of infants"," infantile seborrheic dermatitis"," leiner disease"," leiner's disease"]}