{"Name":"Neonatal inflammatory skin and bowel disease","DiseaseID__c":"GARD:0017355","id":17355,"encodedName":"neonatal-inflammatory-skin-and-bowel-disease","IsDeleted":false,"Disease_Name_Full__c":"Neonatal inflammatory skin and bowel disease","Xref_IDs__c":"773662009; C4751120; MEDGEN:1648296; MONDO:0017411; OMIMPS:614328; ORPHA:294023","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017411","Disease_Description__c":"Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.","GARD_Name__c":"Neonatal inflammatory skin and bowel disease","GARD_Synonym__c":"inflammatory skin and bowel disease, neonatal","Curated_Disease_Description_Source__c":"MONDO:0017411","Curated_Disease_Description__c":"Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.","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:294023","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017411","ORPHANET_ID__c":"ORPHA:294023","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad inflamatoria neonatal intestinal y cutánea","Spanish_Description_Source__c":"ORPHA:294023","Spanish_Description__c":"La enfermedad inflamatoria neonatal intestinal y cutánea es un síndrome autoinflamatorio poco frecuente, potencialmente mortal, con un trastorno de inmunodeficiencia caracterizado por un inicio temprano de inflamación de por vida, que afecta a la piel y al intestino asociado a infecciones recurrentes. Los afectados presentan eritema psoriasiforme perioral y perianal y erupción papular con pústulas, fallo de medro asociado a diarrea malabsortiva crónica, infecciones gastrointestinales intercurrentes y problemas de alimentación, así como pelo muy corto, ausente o roto y tricomegalia. Las infecciones recurrentes cutáneas y pulmonares conducen a blefaritis recurrente, otitis externa y bronquiolitis.","Spanish_Disease_Name__c":"enfermedad inflamatoria neonatal intestinal y cutánea","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97935","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":"Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.","Curated_Disease_Description_Source__c":"MONDO:0017411","GARD_Synonym__c":"inflammatory skin and bowel disease, neonatal","Name":"Neonatal inflammatory skin and bowel disease","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:294023"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:294023"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/294023","Source__c":"C4751120; MONDO:0017411; ORPHA:294023","Xref__c":"ORPHA:294023"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751120","Source__c":"C4751120","Xref__c":"C4751120"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648296","Source__c":"C4751120","Xref__c":"MEDGEN:1648296"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS614328","Source__c":"MONDO:0017411","Xref__c":"OMIMPS:614328"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773662009","Source__c":"C4751120","Xref__c":"773662009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017411","Source__c":"GARD:0017355","Xref__c":"MONDO:0017411"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ADAM17","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An eyebrow that extends straight across the brow, without curve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011228","HPO_Synonym__c":"Flat eyebrow; Horizontal eyebrow; Straight eyebrow","HPO_Name__c":"Horizontal eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Passage of many stools containing blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025085","HPO_Synonym__c":"Bloody bowel movement; Bloody diarrhea","HPO_Name__c":"Bloody diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin that is not localized to any one particular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011354","HPO_Synonym__c":"Generalised abnormality of skin; Generalized abnormality of skin","HPO_Name__c":"Generalized abnormality of skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000498","HPO_Synonym__c":"Cellulitis of eyelids; Inflammation of eyelids","HPO_Name__c":"Blepharitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001805","HPO_Synonym__c":"Dystrophic thickened nails; Onychogryposis; Thick nail; Thickened nails","HPO_Name__c":"Onychogryphosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Scalp hair whose growth is slower than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100038","HPO_Synonym__c":"Slow-growing scalp hair","HPO_Name__c":"Slow-growing scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation or infection of the external auditory canal (EAC), the auricle, or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410017","HPO_Synonym__c":"Swimmer's ear","HPO_Name__c":"Otitis externa","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement or increased size of the heart left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001712","HPO_Synonym__c":"Heart left ventricle hypertrophy; Left ventricular wall hypertrophy","HPO_Name__c":"Left ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200039","HPO_Synonym__c":"Pimple; Pustula; Pustular lesion; Pustules; Skin pustule; Skin pustules","HPO_Name__c":"Pustule","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cracking, fissuring, and peeling of the skin of the lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040181","HPO_Synonym__c":"Chapped lip; Chapped lips; Cheilitis simplex; Common cheilitis; Dry lips","HPO_Name__c":"Chapped lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005406","HPO_Synonym__c":"Recurrent bacterial skin infections; Recurrent cutaneous pyogenic infections; Recurrent episodes of impetigo; Recurrent episodes of infectious dermatitis; Recurrent pyogenic skin infections","HPO_Name__c":"Recurrent bacterial skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031123","HPO_Name__c":"Recurrent gastroenteritis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chronic infection of the nails by Candida species.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008396","HPO_Synonym__c":"Fungal infection of the nail","HPO_Name__c":"Chronic monilial nail infection","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012390","HPO_Name__c":"Anal fissure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:294023","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a rash (change of color and texture) of the perianal skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011131","HPO_Synonym__c":"Perianal rash","HPO_Name__c":"Perianal dermatitis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Gastroenterology","Dermatology"],"Specialist":["Genetics","Neurology","Rheumatology","Immunology","Gastroenterology","Dermatology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology","Primary Immune Deficiencies"]},"synonyms":["inflammatory skin and bowel disease, neonatal"]}