{"Name":"Ichthyosis prematurity syndrome","DiseaseID__c":"GARD:0009886","id":9886,"encodedName":"ichthyosis-prematurity-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ichthyosis prematurity syndrome","Xref_IDs__c":"12381000132107; 763401009; C1837610; C536271; C62590; MEDGEN:324839; MONDO:0012089; OMIM:608649; ORPHA:88621","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012089","Disease_Description__c":"A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.","GARD_Name__c":"Ichthyosis prematurity syndrome","GARD_Synonym__c":"congenital ichthyosis type 4; ichthyosis congenita iv; ichthyosis-prematurity syndrome; idiopathic pneumonia syndrome; ips","Curated_Disease_Description_Source__c":"MONDO:0012089","Curated_Disease_Description__c":"A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.","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:88621","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012089","ORPHANET_ID__c":"ORPHA:88621","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ictiosis y prematuridad","Spanish_Description_Source__c":"ORPHA:88621","Spanish_Description__c":"Es una ictiosis congénita sindrómica poco frecuente caracterizada por el nacimiento prematuro (por lo general, a las 30-32 semanas de gestación) y cambios epidérmicos caracterizados por una descamación gruesa tipo caseoso, asfixia respiratoria neonatal y eosinofilia persistente. Tras el periodo neonatal se observa una mejoría espontánea tanto de la sintomatología general como del proceso cutáneo (escamas tipo vérnix caseosa) evolucionando a una discreta hiperqueratosis folicular con atopia.","Spanish_Disease_Name__c":"síndrome de ictiosis y prematuridad","Spanish_GARD_Synonym__c":"ictiosis congénita tipo 4; ips","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":"A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.","Curated_Disease_Description_Source__c":"MONDO:0012089","GARD_Synonym__c":"congenital ichthyosis type 4; ichthyosis congenita iv; ichthyosis-prematurity syndrome; idiopathic pneumonia syndrome; ips","Name":"Ichthyosis prematurity syndrome","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":"Infancy","Provided_By__c":"ORPHA:88621"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:88621"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1837610"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009886","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1420","Source__c":"Gene Review","Xref__c":"NBK1420"},{"URL__c":"https://www.omim.org/entry/608649","Source__c":"C1837610; MONDO:0012089; ORPHA:88621","Xref__c":"OMIM:608649"},{"URL__c":"https://www.orpha.net/en/disease/detail/88621","Source__c":"C1837610; MONDO:0012089; ORPHA:88621","Xref__c":"ORPHA:88621"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324839","Source__c":"C1837610","Xref__c":"MEDGEN:324839"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536271","Source__c":"MONDO:0012089","Xref__c":"C536271"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=12381000132107","Source__c":"MONDO:0012089","Xref__c":"12381000132107"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837610","Source__c":"C1837610","Xref__c":"C1837610"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C62590","Source__c":"MONDO:0012089","Xref__c":"C62590"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763401009","Source__c":"C1837610","Xref__c":"763401009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012089","Source__c":"GARD:0009886","Xref__c":"MONDO:0012089"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC27A4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:88621","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88621","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:88621","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased count of eosinophils in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001880","HPO_Synonym__c":"Eosinophilia; High blood eosinophil count; Increased eosinophil count","HPO_Name__c":"Increased total eosinophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88621","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007549","HPO_Name__c":"Desquamation of skin soon after birth","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88621","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["congenital ichthyosis type 4"," ichthyosis congenita iv"," ichthyosis-prematurity syndrome"," idiopathic pneumonia syndrome"," ips"]}