{"Name":"Severe dermatitis-multiple allergies-metabolic wasting syndrome","DiseaseID__c":"GARD:0017594","id":17594,"encodedName":"severe-dermatitis-multiple-allergies-metabolic-wasting-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Severe dermatitis-multiple allergies-metabolic wasting syndrome","Xref_IDs__c":"C3809719; MEDGEN:816049; MONDO:0014218; OMIM:615508; ORPHA:369992","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Description_Source__c":"ORPHA:369992","Disease_Description__c":"Severe dermatitis-multiple allergies-metabolic wasting syndrome is a rare, genetic, epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.","GARD_Name__c":"Severe dermatitis-multiple allergies-metabolic wasting syndrome","GARD_Synonym__c":"congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome; congenital erythroderma, hypotrichosis, recurrent infections, multiple food allergies syndrome; erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige; erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige; erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, recurrent infections, and multiple food allergies; sam syndrome; severe dermatitis, multiple allergies, and metabolic wasting syndrome; severe dermatitis, multiple allergies, metabolic wasting syndrome","Curated_Disease_Description_Source__c":"ORPHA:369992","Curated_Disease_Description__c":"A rare genetic epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.","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:369992","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014218","ORPHANET_ID__c":"ORPHA:369992","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de dermatitis grave-alergias múltiples-desgaste metabólico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de dermatitis grave-alergias múltiples-desgaste metabólico","Spanish_GARD_Synonym__c":"síndrome sam","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 genetic epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.","Curated_Disease_Description_Source__c":"ORPHA:369992","GARD_Synonym__c":"congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome; congenital erythroderma, hypotrichosis, recurrent infections, multiple food allergies syndrome; erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige; erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige; erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, recurrent infections, and multiple food allergies; sam syndrome; severe dermatitis, multiple allergies, and metabolic wasting syndrome; severe dermatitis, multiple allergies, metabolic wasting syndrome","Name":"Severe dermatitis-multiple allergies-metabolic wasting syndrome","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":"Immunology","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:369992"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:369992"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/369992","Source__c":"C3809719; MONDO:0014218; ORPHA:369992","Xref__c":"ORPHA:369992"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816049","Source__c":"C3809719","Xref__c":"MEDGEN:816049"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3809719","Source__c":"C3809719","Xref__c":"C3809719"},{"URL__c":"https://www.omim.org/entry/615508","Source__c":"C3809719; MONDO:0014218; ORPHA:369992","Xref__c":"OMIM:615508"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=774211005","Source__c":"C3809719","Xref__c":"774211005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014218","Source__c":"GARD:0017594","Xref__c":"MONDO:0014218"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DSG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410151","HPO_Synonym__c":"Eosinophilic esophagitis; Eosinophilic infiltration of the esophagus","HPO_Name__c":"Eosinophilic infiltration of the esophagus","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypergranulosis is an increased thickness of the stratum granulosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025114","HPO_Name__c":"Hypergranulosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","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":"OMIM:615508","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003765","HPO_Synonym__c":"Psoriasis","HPO_Name__c":"Psoriasiform dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","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":"OMIM:615508","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500093","HPO_Synonym__c":"Allergic reaction to foods; Food allergy; IgE-mediated food allergy; Immunoglobulin E-mediated food allergy; Reaction to food allergens","HPO_Name__c":"Food allergy","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100792","HPO_Name__c":"Acantholysis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased overall level of immunoglobulin E in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003212","HPO_Synonym__c":"Elevated immunoglobulin E; Elevated serum IgE; High immunoglobulin E; Increased circulating IgE level","HPO_Name__c":"Increased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of growth hormone in the blood circulation below normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034323","HPO_Synonym__c":"Growth hormone deficiency; Somatotropin deficiency","HPO_Name__c":"Reduced circulating growth hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","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":"OMIM:615508","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615508","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011625","HPO_Synonym__c":"Swiss cheese ventricular septal defect","HPO_Name__c":"Multiple muscular ventricular septal defects","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Very frequent (80-99%)","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:615508","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"}},{"Provided_By__c":"OMIM:615508","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003228","HPO_Synonym__c":"High blood sodium levels","HPO_Name__c":"Hypernatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615508","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Immunology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome"," congenital erythroderma, hypotrichosis, recurrent infections, multiple food allergies syndrome"," erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige"," erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige"," erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, recurrent infections, and multiple food allergies"," sam syndrome"," severe dermatitis, multiple allergies, and metabolic wasting syndrome"," severe dermatitis, multiple allergies, metabolic wasting syndrome"]}