{"Name":"Autosomal recessive congenital ichthyosis 5","DiseaseID__c":"GARD:0009734","id":9734,"encodedName":"autosomal-recessive-congenital-ichthyosis-5","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive congenital ichthyosis 5","Xref_IDs__c":"C1858133; C537265; DOID:0060714; MEDGEN:347628; MONDO:0011485; OMIM:604777","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:0011485","Disease_Description__c":"An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.","GARD_Name__c":"Autosomal recessive congenital ichthyosis 5","GARD_Synonym__c":"arci5; autosomal recessive congenital ichthyosis type 5; autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis; ichthyosis congenita iii; ichthyosis, congenital, autosomal recessive type 5; ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive","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 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 cause scaling of the skin, but LI causes dark colored scales with no skin redness, while NCIE causes fine white scales with red skin. Both types can cause problems with the skin's ability to act as a barrier and can lead to other skin problems like painful cracks on the hands and feet. ARCI can also cause hair loss and difficulty sweating. It is caused by changes in genes that affect the skin's ability to develop normally.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:604777","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011485","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 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 cause scaling of the skin, but LI causes dark colored scales with no skin redness, while NCIE causes fine white scales with red skin. Both types can cause problems with the skin's ability to act as a barrier and can lead to other skin problems like painful cracks on the hands and feet. ARCI can also cause hair loss and difficulty sweating. It is caused by changes in genes that affect the skin's ability to develop normally.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"arci5; autosomal recessive congenital ichthyosis type 5; autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis; ichthyosis congenita iii; ichthyosis, congenital, autosomal recessive type 5; ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive","Name":"Autosomal recessive congenital ichthyosis 5","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/0009734","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060714","Source__c":"MONDO:0011485","Xref__c":"DOID:0060714"},{"URL__c":"https://www.omim.org/entry/604777","Source__c":"C1858133; MONDO:0011485","Xref__c":"OMIM:604777"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858133","Source__c":"C1858133","Xref__c":"C1858133"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537265","Source__c":"MONDO:0011485","Xref__c":"C537265"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347628","Source__c":"C1858133","Xref__c":"MEDGEN:347628"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011485","Source__c":"GARD:0009734","Xref__c":"MONDO:0011485"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYP4F22","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604777","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040190","HPO_Synonym__c":"White scaling skin; White scaly skin","HPO_Name__c":"White scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604777","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Formation of an anuclear keratin layer","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040162","HPO_Name__c":"Orthokeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604777","Feature__r":{"HPO_Description__c":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001036","HPO_Name__c":"Parakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604777","HPO_Frequency__c":"Frequent (30-79%)","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:604777","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Exaggerated skin markings (dermatoglyphics) on the palms of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033252","HPO_Name__c":"Palmar hyperlinearity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604777","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604777","Feature__r":{"HPO_Description__c":"Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001927","HPO_Synonym__c":"Acanthocytes; Red cell acanthocytosis","HPO_Name__c":"Acanthocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604777","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001019","HPO_Synonym__c":"Exfoliative dermititis; Generalized erythroderma; Generalized erythrodermia","HPO_Name__c":"Erythroderma","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604777","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{},"synonyms":["arci5"," autosomal recessive congenital ichthyosis type 5"," autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis"," ichthyosis congenita iii"," ichthyosis, congenital, autosomal recessive type 5"," ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive"]}