{"Name":"Ichthyosis bullosa of Siemens","DiseaseID__c":"GARD:0002966","id":2966,"encodedName":"ichthyosis-bullosa-of-siemens","IsDeleted":false,"Disease_Name_Full__c":"Ichthyosis bullosa of Siemens","Xref_IDs__c":"254169002; C0432306; C84777; D053560; DOID:0060877; MEDGEN:98153; MONDO:0007813; OMIM:146800; ORPHA:455","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007813","Disease_Description__c":"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.","GARD_Name__c":"Ichthyosis bullosa of Siemens","GARD_Synonym__c":"bullous type ichthyosis; ibs; sei; superficial epidermolytic ichthyosis","Curated_Disease_Description_Source__c":"MONDO:0007813","Curated_Disease_Description__c":"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:455","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007813","ORPHANET_ID__c":"ORPHA:455","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ictiosis epidermolítica superficial","Spanish_Description_Source__c":"ORPHA:455","Spanish_Description__c":"La ictiosis epidermolítica superficial (SEI) es una ictiosis queratinopática rara (KI; consulte este término) caracterizada por la presencia al nacimiento de ampollas y erosiones superficiales.","Spanish_Disease_Name__c":"ictiosis epidermolítica superficial","Spanish_GARD_Synonym__c":"ictiosis ampollosa de siemens; ictiosis bullosa de siemens; sei","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":"Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.","Curated_Disease_Description_Source__c":"MONDO:0007813","GARD_Synonym__c":"bullous type ichthyosis; ibs; sei; superficial epidermolytic ichthyosis","Name":"Ichthyosis bullosa of Siemens","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.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":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:455"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:455"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0432306"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002966","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432306","Source__c":"C0432306","Xref__c":"C0432306"},{"URL__c":"https://www.orpha.net/en/disease/detail/455","Source__c":"C0432306; MONDO:0007813; ORPHA:455","Xref__c":"ORPHA:455"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C053560","Source__c":"C0432306; MONDO:0007813","Xref__c":"D053560"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98153","Source__c":"C0432306","Xref__c":"MEDGEN:98153"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060877","Source__c":"MONDO:0007813","Xref__c":"DOID:0060877"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254169002","Source__c":"C0432306; MONDO:0007813","Xref__c":"254169002"},{"URL__c":"https://www.omim.org/entry/146800","Source__c":"C0432306; MONDO:0007813; ORPHA:455","Xref__c":"OMIM:146800"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84777","Source__c":"C0432306; MONDO:0007813","Xref__c":"C84777"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007813","Source__c":"GARD:0002966","Xref__c":"MONDO:0007813"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:455","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100792","HPO_Name__c":"Acantholysis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000963","HPO_Synonym__c":"Thin skin","HPO_Name__c":"Thin skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["bullous type ichthyosis"," ibs"," sei"," superficial epidermolytic ichthyosis"]}