{"Name":"Adermatoglyphia","DiseaseID__c":"GARD:0012550","id":12550,"encodedName":"adermatoglyphia","IsDeleted":false,"Disease_Name_Full__c":"Adermatoglyphia","Xref_IDs__c":"763748007; C1852150; C565010; DOID:0111357; HP:0007455; MEDGEN:338875; MONDO:0007619; OMIM:136000; ORPHA:289465","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007619","Disease_Description__c":"Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.","GARD_Name__c":"Adermatoglyphia","GARD_Synonym__c":"aderm; congenital absence of fingerprints; fingerprints, absence of; immigration delay disease; isolated congenital adermatoglyphia","Curated_Disease_Description_Source__c":"GARD:0012550","Curated_Disease_Description__c":"Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. Because no two people have the same patterns, fingerprints have long been used as a way to identify individuals. However, people with adermatoglyphia do not have these ridges, and so they cannot be identified by their fingerprints. Adermatoglyphia has been called the 'immigration delay disease' because affected individuals have had difficulty entering countries that require fingerprinting for identification. In some families, adermatoglyphia occurs without any related signs and symptoms. In others, a lack of dermatoglyphs is associated with other features, typically affecting the skin. These can include small white bumps called milia on the face, blistering of the skin in areas exposed to heat or friction, and a reduced number of sweat glands on the hands and feet. Adermatoglyphia is also a feature of several rare syndromes classified as ectodermal dysplasias, including a condition called Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis that affects the skin, hair, sweat glands, and teeth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:289465","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007619","ORPHANET_ID__c":"ORPHA:289465","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Adermatoglifia congénita aislada","Spanish_Description_Source__c":"ORPHA:289465","Spanish_Description__c":"La adermatoglifia congénita aislada es un defecto del desarrollo durante la embriogénesis, genético y poco frecuente, caracterizado por la ausencia de crestas epidérmicas en las palmas y las plantas de los pies, lo que resulta en la ausencia de huellas dactilares, sin otras manifestaciones asociadas. Se asocia con un reducido número de glándulas sudoríparas y una disminución de la transpiración de palmas y plantas.","Spanish_Disease_Name__c":"adermatoglifia congénita aislada","Spanish_GARD_Synonym__c":"ausencia congénita de huellas dactilares; enfermedad de los retrasos en inmigración","Category_Linearization__c":"ORPHA:93890","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":"Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. Because no two people have the same patterns, fingerprints have long been used as a way to identify individuals. However, people with adermatoglyphia do not have these ridges, and so they cannot be identified by their fingerprints. Adermatoglyphia has been called the 'immigration delay disease' because affected individuals have had difficulty entering countries that require fingerprinting for identification. In some families, adermatoglyphia occurs without any related signs and symptoms. In others, a lack of dermatoglyphs is associated with other features, typically affecting the skin. These can include small white bumps called milia on the face, blistering of the skin in areas exposed to heat or friction, and a reduced number of sweat glands on the hands and feet. Adermatoglyphia is also a feature of several rare syndromes classified as ectodermal dysplasias, including a condition called Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis that affects the skin, hair, sweat glands, and teeth.","Curated_Disease_Description_Source__c":"GARD:0012550","GARD_Synonym__c":"aderm; congenital absence of fingerprints; fingerprints, absence of; immigration delay disease; isolated congenital adermatoglyphia","Name":"Adermatoglyphia","estimateUsa":""}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:289465"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:289465"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012550","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852150","Source__c":"C1852150","Xref__c":"C1852150"},{"URL__c":"https://www.omim.org/entry/136000","Source__c":"C1852150; MONDO:0007619; ORPHA:289465","Xref__c":"OMIM:136000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111357","Source__c":"MONDO:0007619","Xref__c":"DOID:0111357"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763748007","Source__c":"MONDO:0007619","Xref__c":"763748007"},{"URL__c":"https://www.orpha.net/en/disease/detail/289465","Source__c":"C1852150; MONDO:0007619","Xref__c":"ORPHA:289465"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565010","Source__c":"MONDO:0007619","Xref__c":"C565010"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338875","Source__c":"C1852150","Xref__c":"MEDGEN:338875"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007619","Source__c":"GARD:0012550","Xref__c":"MONDO:0007619"},{"URL__c":"https://medlineplus.gov/genetics/condition/adermatoglyphia","Source__c":"GARD:0012550","Xref__c":"https://medlineplus.gov/genetics/condition/adermatoglyphia"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007455","Source__c":"C1852150","Xref__c":"HP:0007455"}],"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":"OMIM:136000","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010765","HPO_Name__c":"Palmar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136000","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007455","HPO_Name__c":"Adermatoglyphia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136000","Feature__r":{"HPO_Description__c":"Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001217","HPO_Synonym__c":"Clubbing of fingers and toes; Digital clubbing","HPO_Name__c":"Clubbing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["aderm"," congenital absence of fingerprints"," fingerprints, absence of"," immigration delay disease"," isolated congenital adermatoglyphia"]}