{"Name":"Congenital lethal erythroderma","DiseaseID__c":"GARD:0002192","id":2192,"encodedName":"congenital-lethal-erythroderma","IsDeleted":false,"Disease_Name_Full__c":"Congenital lethal erythroderma","Xref_IDs__c":"722391005; C1856898; C535513; MEDGEN:384008; MONDO:0009198; OMIM:227090; ORPHA:1954","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009198","Disease_Description__c":"A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.","GARD_Name__c":"Congenital lethal erythroderma","GARD_Synonym__c":"congenital exfoliative erythroderma resistant to treatment","Curated_Disease_Description_Source__c":"ORPHA:1954","Curated_Disease_Description__c":"A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1954","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009198","ORPHANET_ID__c":"ORPHA:1954","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Eritrodermia congénita letal","Spanish_Description_Source__c":"ORPHA:1954","Spanish_Description__c":"Es un trastorno de la piel poco frecuente caracterizado por una descamación cutánea eritrodérmica desde el nacimiento sin anomalías patentes en las uñas o el tallo capilar, y asociado a otras anomalías tales como diarrea, fallo de medro y grave hipoalbuminemia resistente a la corrección por suplementación enteral o intravenosa. Probablemente el trastorno sigue un patrón de herencia autosómico recesivo. El pronóstico es desfavorable y los lactantes fallecen en los primeros meses de vida. No ha habido más casos descritos en la literatura desde 1992.","Spanish_Disease_Name__c":"eritrodermia congénita letal","Spanish_GARD_Synonym__c":null,"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 skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life.","Curated_Disease_Description_Source__c":"ORPHA:1954","GARD_Synonym__c":"congenital exfoliative erythroderma resistant to treatment","Name":"Congenital lethal erythroderma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1954"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722391005","Source__c":"C1856898; MONDO:0009198","Xref__c":"722391005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856898","Source__c":"C1856898","Xref__c":"C1856898"},{"URL__c":"https://www.omim.org/entry/227090","Source__c":"C1856898; MONDO:0009198; ORPHA:1954","Xref__c":"OMIM:227090"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=384008","Source__c":"C1856898","Xref__c":"MEDGEN:384008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535513","Source__c":"MONDO:0009198","Xref__c":"C535513"},{"URL__c":"https://www.orpha.net/en/disease/detail/1954","Source__c":"C1856898; MONDO:0009198; ORPHA:1954","Xref__c":"ORPHA:1954"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009198","Source__c":"GARD:0002192","Xref__c":"MONDO:0009198"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1954","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1954","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1954","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007381","HPO_Name__c":"Congenital exfoliative erythroderma","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1954","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1954","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1954","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001025","HPO_Synonym__c":"Hives","HPO_Name__c":"Urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1954","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:1954","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["congenital exfoliative erythroderma resistant to treatment"]}