{"Name":"Autosomal recessive congenital ichthyosis 1","DiseaseID__c":"GARD:0003170","id":3170,"encodedName":"autosomal-recessive-congenital-ichthyosis-1","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive congenital ichthyosis 1","Xref_IDs__c":"C4551630; D017490; DOID:0060656; MEDGEN:1635401; MONDO:0009441","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":2,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009441","Disease_Description__c":"Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.","GARD_Name__c":"Autosomal recessive congenital ichthyosis 1","GARD_Synonym__c":"arci1; autosomal recessive congenital ichthyosis type 1; collodion fetus; desquamation of newborn; ichthyosis congenita; ichthyosis congenita ii; ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution; ichthyosis, congenital, autosomal recessive 1, with or without bathing suit distribution; ichthyosis, congenital, autosomal recessive type 1; lamellar exfoliation of newborn; li1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Autosomal recessive congenital ichthyosis (ARCI) is a type of skin disorder. This condition causes abnormal scaling of the skin all over the body. There are two main types of ARCI: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). Both types can cause severe symptoms, but NCIE is more likely to cause redness and fine white scales that stick to the skin. LI causes larger, dark, and pigmented scales with no redness. Both types can cause nail problems, and NCIE can also affect the eyelids, lips, and scalp. ARCI can also cause scales to cover the entire body surface, including the folds of the skin, and can cause scarring hair loss and difficulty sweating. Autosomal recessive congenital ichthyosis-1 is caused by changes in the TGM1 gene and follows an autosomal recessive pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:242300","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009441","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Autosomal recessive congenital ichthyosis (ARCI) is a type of skin disorder. This condition causes abnormal scaling of the skin all over the body. There are two main types of ARCI: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). Both types can cause severe symptoms, but NCIE is more likely to cause redness and fine white scales that stick to the skin. LI causes larger, dark, and pigmented scales with no redness. Both types can cause nail problems, and NCIE can also affect the eyelids, lips, and scalp. ARCI can also cause scales to cover the entire body surface, including the folds of the skin, and can cause scarring hair loss and difficulty sweating. Autosomal recessive congenital ichthyosis-1 is caused by changes in the TGM1 gene and follows an autosomal recessive pattern of inheritance.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"arci1; autosomal recessive congenital ichthyosis type 1; collodion fetus; desquamation of newborn; ichthyosis congenita; ichthyosis congenita ii; ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution; ichthyosis, congenital, autosomal recessive 1, with or without bathing suit distribution; ichthyosis, congenital, autosomal recessive type 1; lamellar exfoliation of newborn; li1","Name":"Autosomal recessive congenital ichthyosis 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"},{"Account_Name__c":"Ichthyosis Support Group","Website__c":"https://www.ichthyosis.org.uk/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3536797"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003170","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1420","Source__c":"Gene Review","Xref__c":"NBK1420"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551630","Source__c":"C4551630","Xref__c":"C4551630"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060656","Source__c":"MONDO:0009441","Xref__c":"DOID:0060656"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1635401","Source__c":"C4551630","Xref__c":"MEDGEN:1635401"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C017490","Source__c":"MONDO:0009441","Xref__c":"D017490"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009441","Source__c":"GARD:0003170","Xref__c":"MONDO:0009441"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TGM1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgm1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":["arci1"," autosomal recessive congenital ichthyosis type 1"," collodion fetus"," desquamation of newborn"," ichthyosis congenita"," ichthyosis congenita ii"," ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution"," ichthyosis, congenital, autosomal recessive 1, with or without bathing suit distribution"," ichthyosis, congenital, autosomal recessive type 1"," lamellar exfoliation of newborn"," li1"]}