{"Name":"Autosomal recessive congenital ichthyosis 4A","DiseaseID__c":"GARD:0009733","id":9733,"encodedName":"autosomal-recessive-congenital-ichthyosis-4a","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive congenital ichthyosis 4A","Xref_IDs__c":"C1832550; C537264; DOID:0060712; MEDGEN:371355; MONDO:0011026; OMIM:601277","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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011026","Disease_Description__c":"Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.","GARD_Name__c":"Autosomal recessive congenital ichthyosis 4A","GARD_Synonym__c":"arci4a; autosomal recessive congenital ichthyosis type 4a; ichthyosis congenita iib; ichthyosis, congenital, autosomal recessive type 4a; icr2b; lamellar ichthyosis 2; li2","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Autosomal recessive congenital ichthyosis (ARCI) is a group of skin disorders that cause unusual skin scaling all over the body. There are two main types of ARCI: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). These disorders affect only the skin, and about two-thirds of patients have severe symptoms. However, there can be some overlap in symptoms between patients or within the same patient's family. NCIE is characterized by red skin and white, superficial scales that stick to the skin. Most patients are born with a collodion membrane and have thick skin on the palms and soles of the feet, which can cause pain and loss of pulp volume. Nail problems are common and some patients may experience other issues such as ectropion (eyelids that turn outwards), eclabium (lips that turn outwards), scalp involvement, and loss of eyebrows and lashes. \nLI is characterized by large, dark, and colored scales with no redness. The scales can be found all over the body, and the skin may be less good at protecting the body. As patients age, the scales can cover the entire body surface, including the folds of their skin, and can vary in size and color. Some patients may also experience hair loss and reduced sweating. ARCI is caused by variation in several genes, and it is an inherited condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:601277","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011026","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 group of skin disorders that cause unusual skin scaling all over the body. There are two main types of ARCI: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). These disorders affect only the skin, and about two-thirds of patients have severe symptoms. However, there can be some overlap in symptoms between patients or within the same patient's family. NCIE is characterized by red skin and white, superficial scales that stick to the skin. Most patients are born with a collodion membrane and have thick skin on the palms and soles of the feet, which can cause pain and loss of pulp volume. Nail problems are common and some patients may experience other issues such as ectropion (eyelids that turn outwards), eclabium (lips that turn outwards), scalp involvement, and loss of eyebrows and lashes. \nLI is characterized by large, dark, and colored scales with no redness. The scales can be found all over the body, and the skin may be less good at protecting the body. As patients age, the scales can cover the entire body surface, including the folds of their skin, and can vary in size and color. Some patients may also experience hair loss and reduced sweating. ARCI is caused by variation in several genes, and it is an inherited condition.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"arci4a; autosomal recessive congenital ichthyosis type 4a; ichthyosis congenita iib; ichthyosis, congenital, autosomal recessive type 4a; icr2b; lamellar ichthyosis 2; li2","Name":"Autosomal recessive congenital ichthyosis 4A","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009733","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1420","Source__c":"Gene Review","Xref__c":"NBK1420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537264","Source__c":"MONDO:0011026","Xref__c":"C537264"},{"URL__c":"https://www.omim.org/entry/601277","Source__c":"C1832550; MONDO:0011026","Xref__c":"OMIM:601277"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371355","Source__c":"C1832550","Xref__c":"MEDGEN:371355"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832550","Source__c":"C1832550","Xref__c":"C1832550"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060712","Source__c":"MONDO:0011026","Xref__c":"DOID:0060712"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011026","Source__c":"GARD:0009733","Xref__c":"MONDO:0011026"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCA12","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abca12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601277","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":"OMIM:601277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"White discoloration of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001820","HPO_Synonym__c":"White discoloration of nails","HPO_Name__c":"Leukonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601277","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An outward turning (eversion) or rotation of the eyelid margin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000656","HPO_Synonym__c":"Eyelid turned out","HPO_Name__c":"Ectropion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001217","HPO_Synonym__c":"Clubbing of fingers and toes; Digital clubbing","HPO_Name__c":"Clubbing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601277","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007479","HPO_Synonym__c":"Collodion baby; Congenital lamellar ichthyosis; Congenital non-bullous ichthyosis; Ichthyosis lammellaris; Ichthyosis, congenital, nonblistering; Nonbullous congenital ichthyosiform erythroderma; Nonbullous congenital ichthyosis","HPO_Name__c":"Congenital nonbullous ichthyosiform erythroderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["arci4a"," autosomal recessive congenital ichthyosis type 4a"," ichthyosis congenita iib"," ichthyosis, congenital, autosomal recessive type 4a"," icr2b"," lamellar ichthyosis 2"," li2"]}