{"Name":"Autosomal dominant lamellar ichthyosis","DiseaseID__c":"GARD:0009735","id":9735,"encodedName":"autosomal-dominant-lamellar-ichthyosis","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant lamellar ichthyosis","Xref_IDs__c":"254164007; C0432304; C537263; MEDGEN:98486; MONDO:0007812; OMIM:146750","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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Autosomal dominant lamellar ichthyosis","GARD_Synonym__c":"ichthyosis, lamellar, autosomal dominant","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"This rare inherited skin disease usually begins at birth or in the early newborn period. People with this disease have large, dark scales over most of the body, and the scaling is often more noticeable on the arms and legs. The palms of the hands and soles of the feet are thickened, a feature called palmoplantar keratoderma. Some people have mild skin redness and moderate itching. In areas that are severely affected, people may not sweat, which can affect how the body handles heat.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007812","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":"This rare inherited skin disease usually begins at birth or in the early newborn period. People with this disease have large, dark scales over most of the body, and the scaling is often more noticeable on the arms and legs. The palms of the hands and soles of the feet are thickened, a feature called palmoplantar keratoderma. Some people have mild skin redness and moderate itching. In areas that are severely affected, people may not sweat, which can affect how the body handles heat.","GARD_Synonym__c":"ichthyosis, lamellar, autosomal dominant","Name":"Autosomal dominant lamellar ichthyosis","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://www.ncbi.nlm.nih.gov/mesh/C537263","Source__c":"MONDO:0007812","Xref__c":"C537263"},{"URL__c":"https://www.omim.org/entry/146750","Source__c":"C0432304; MONDO:0007812","Xref__c":"OMIM:146750"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98486","Source__c":"C0432304","Xref__c":"MEDGEN:98486"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432304","Source__c":"C0432304","Xref__c":"C0432304"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254164007","Source__c":"C0432304; MONDO:0007812","Xref__c":"254164007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007812","Source__c":"GARD:0009735","Xref__c":"MONDO:0007812"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ASPRV1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:146750","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"}},{"Provided_By__c":"OMIM:146750","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:146750","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["ichthyosis, lamellar, autosomal dominant"]}