{"Name":"Congenital nonbullous ichthyosiform erythroderma","DiseaseID__c":"GARD:0009736","id":9736,"encodedName":"congenital-nonbullous-ichthyosiform-erythroderma","IsDeleted":false,"Disease_Name_Full__c":"Congenital nonbullous ichthyosiform erythroderma","Xref_IDs__c":"205550003; C0079154; HP:0007479; MEDGEN:38180; MONDO:0019306; ORPHA:79394","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019306","Disease_Description__c":"A rare autosomal recessive congenital ichthyosis (ARCI) characterized by generalised scaling accompanied by a more or less severe erythroderma, without blister formation.","GARD_Name__c":"Congenital nonbullous ichthyosiform erythroderma","GARD_Synonym__c":"alligator skin; cie; collodion baby; congenital ichthyosiform erythroderma; congenital ichthyosiform erythroderma (disease); congenital lamellar ichthyosis; congenital non bullous ichthyosiform erythroderma; congenital non-bullous ichthyosiform erythroderma; congenital non-bullous ichthyosis; erythrodermic ichthyosis; ichthyosiform erythroderma; ichthyosis lammellaris; ichthyosis, congenital, nonblistering; non-bullous congenital ichthyosiform erythroderma; nonbullous congenital ichthyosiform erythroderma; nonbullous congenital ichthyosis","Curated_Disease_Description_Source__c":"GARD:0009736","Curated_Disease_Description__c":"Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Many infants with this condition are born with a tight, clear sheath covering their skin called a collodion membrane. Constriction by the membrane may cause the lips and eyelids to be turned out so the inner surface is exposed. The collodion membrane is usually shed during the first few weeks of life. Following shedding of the collodion membrane, the skin is red (erythroderma) and covered with fine, white scales (ichthyosis). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life. Some people with NBCIE have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), decreased or absent sweating (anhidrosis), and abnormal nails (nail dystrophy). In severe cases, there is an absence of hair growth (alopecia) in certain areas, often affecting the scalp and eyebrows. In individuals with NBCIE, some of the skin problems may improve by adulthood. Life expectancy is normal in people with NBCIE.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79394","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019306","ORPHANET_ID__c":"ORPHA:79394","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Eritrodermia ictiosiforme congénita","Spanish_Description_Source__c":"ORPHA:79394","Spanish_Description__c":"Es una ictiosis congénita autosómica recesiva (ICAR) poco frecuente caracterizada por descamación generalizada acompañada de eritrodermia más o menos grave, sin formación de ampollas.","Spanish_Disease_Name__c":"eritrodermia ictiosiforme congénita","Spanish_GARD_Synonym__c":"eic; eritrodermia ictiosiforme congénita no ampollosa; ictiosis eritrodérmica","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":"Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Many infants with this condition are born with a tight, clear sheath covering their skin called a collodion membrane. Constriction by the membrane may cause the lips and eyelids to be turned out so the inner surface is exposed. The collodion membrane is usually shed during the first few weeks of life. Following shedding of the collodion membrane, the skin is red (erythroderma) and covered with fine, white scales (ichthyosis). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life. Some people with NBCIE have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), decreased or absent sweating (anhidrosis), and abnormal nails (nail dystrophy). In severe cases, there is an absence of hair growth (alopecia) in certain areas, often affecting the scalp and eyebrows. In individuals with NBCIE, some of the skin problems may improve by adulthood. Life expectancy is normal in people with NBCIE.","Curated_Disease_Description_Source__c":"GARD:0009736","GARD_Synonym__c":"alligator skin; cie; collodion baby; congenital ichthyosiform erythroderma; congenital ichthyosiform erythroderma (disease); congenital lamellar ichthyosis; congenital non bullous ichthyosiform erythroderma; congenital non-bullous ichthyosiform erythroderma; congenital non-bullous ichthyosis; erythrodermic ichthyosis; ichthyosiform erythroderma; ichthyosis lammellaris; ichthyosis, congenital, nonblistering; non-bullous congenital ichthyosiform erythroderma; nonbullous congenital ichthyosiform erythroderma; nonbullous congenital ichthyosis","Name":"Congenital nonbullous ichthyosiform erythroderma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Neonatal","Provided_By__c":"ORPHA:79394"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79394"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009736","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1420","Source__c":"Gene Review","Xref__c":"NBK1420"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205550003","Source__c":"MONDO:0019306","Xref__c":"205550003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0079154","Source__c":"C0079154","Xref__c":"C0079154"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=38180","Source__c":"C0079154","Xref__c":"MEDGEN:38180"},{"URL__c":"https://www.orpha.net/en/disease/detail/79394","Source__c":"C0079154; MONDO:0019306; ORPHA:79394","Xref__c":"ORPHA:79394"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019306","Source__c":"GARD:0009736","Xref__c":"MONDO:0019306"},{"URL__c":"https://medlineplus.gov/genetics/condition/nonbullous-congenital-ichthyosiform-erythroderma","Source__c":"GARD:0009736","Xref__c":"https://medlineplus.gov/genetics/condition/nonbullous-congenital-ichthyosiform-erythroderma"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=267372009","Source__c":"C0079154","Xref__c":"267372009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C017490","Source__c":"C0079154","Xref__c":"D017490"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007479","Source__c":"C0079154","Xref__c":"HP:0007479"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SULT2B1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ALOXE3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aloxe3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PNPLA1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NIPAL4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TGM1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgm1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SDR9C7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ALOX12B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/alox12b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ABCA12","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abca12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CERS3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79394","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:79394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000491","HPO_Synonym__c":"Corneal inflammation","HPO_Name__c":"Keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79394","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An erosion or abrasion of the cornea's outermost layer of epithelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200020","HPO_Synonym__c":"Damage to outer layer of the cornea of the eye","HPO_Name__c":"Corneal erosion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79394","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:79394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79394","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:79394","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:79394","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":"ORPHA:79394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["alligator skin"," cie"," collodion baby"," congenital ichthyosiform erythroderma"," congenital ichthyosiform erythroderma (disease)"," congenital lamellar ichthyosis"," congenital non bullous ichthyosiform erythroderma"," congenital non-bullous ichthyosiform erythroderma"," congenital non-bullous ichthyosis"," erythrodermic ichthyosis"," ichthyosiform erythroderma"," ichthyosis lammellaris"," ichthyosis, congenital, nonblistering"," non-bullous congenital ichthyosiform erythroderma"," nonbullous congenital ichthyosiform erythroderma"," nonbullous congenital ichthyosis"]}