{"Name":"Basan syndrome","DiseaseID__c":"GARD:0002336","id":2336,"encodedName":"basan-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Basan syndrome","Xref_IDs__c":"239011004; C0406707; C537659; DOID:0080725; MEDGEN:140808; MONDO:0007507; OMIM:129200; ORPHA:1658","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:0007507","Disease_Description__c":"A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.","GARD_Name__c":"Basan syndrome","GARD_Synonym__c":"absence of dermatoglyphics congenital milia; absence of dermatoglyphics-congenital milia syndrome; absence of fingerprints congenital milia; absence of fingerprints-congenital milia syndrome; baird syndrome; basan-baird syndrome; ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease","Curated_Disease_Description_Source__c":"MONDO:0007507","Curated_Disease_Description__c":"A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1658","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007507","ORPHANET_ID__c":"ORPHA:1658","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ausencia de dermatoglifos-miliar congénita","Spanish_Description_Source__c":"ORPHA:1658","Spanish_Description__c":"Es un síndrome poco frecuente caracterizado por ampollas y erupción miliar neonatal (pápulas blancas pequeñas, especialmente en la cara) y ausencia congénita de dermatoglifos en manos y pies. Se ha descrito en dos familias (una de ellas con 13 individuos afectados de tres generaciones diferentes) y en un individuo no relacionado. Algunos pacientes presentaban también contracturas en flexión parciales bilaterales de los dedos de manos y pies, y sindactilia de los dedos de los pies. El síndrome se hereda con carácter autosómico dominante.","Spanish_Disease_Name__c":"síndrome de ausencia de dermatoglifos-miliar congénita","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 syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.","Curated_Disease_Description_Source__c":"MONDO:0007507","GARD_Synonym__c":"absence of dermatoglyphics congenital milia; absence of dermatoglyphics-congenital milia syndrome; absence of fingerprints congenital milia; absence of fingerprints-congenital milia syndrome; baird syndrome; basan-baird syndrome; ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease","Name":"Basan 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":"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":"Childhood","Provided_By__c":"ORPHA:1658"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002336","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080725","Source__c":"MONDO:0007507","Xref__c":"DOID:0080725"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239011004","Source__c":"C0406707; MONDO:0007507","Xref__c":"239011004"},{"URL__c":"https://www.orpha.net/en/disease/detail/1658","Source__c":"C0406707; MONDO:0007507","Xref__c":"ORPHA:1658"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140808","Source__c":"C0406707","Xref__c":"MEDGEN:140808"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406707","Source__c":"C0406707","Xref__c":"C0406707"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537659","Source__c":"MONDO:0007507","Xref__c":"C537659"},{"URL__c":"https://www.omim.org/entry/129200","Source__c":"C0406707; MONDO:0007507; ORPHA:1658","Xref__c":"OMIM:129200"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007507","Source__c":"GARD:0002336","Xref__c":"MONDO:0007507"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SMARCAD1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/smarcad1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1658","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000963","HPO_Synonym__c":"Thin skin","HPO_Name__c":"Thin skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1658","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001056","HPO_Synonym__c":"Milk spot; Millium cyst","HPO_Name__c":"Milia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1658","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1658","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:1658","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007477","HPO_Synonym__c":"Abnormal fingerprints; Dermatoglyphic abnormalities","HPO_Name__c":"Abnormal dermatoglyphics","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009775","HPO_Synonym__c":"Amniotic bands; Congenital constriction band sequence; Pseudoainhum","HPO_Name__c":"Amniotic constriction ring","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["absence of dermatoglyphics congenital milia"," absence of dermatoglyphics-congenital milia syndrome"," absence of fingerprints congenital milia"," absence of fingerprints-congenital milia syndrome"," baird syndrome"," basan-baird syndrome"," ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease"]}