{"Name":"Uncombable hair syndrome","DiseaseID__c":"GARD:0005404","id":5404,"encodedName":"uncombable-hair-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Uncombable hair syndrome","Xref_IDs__c":"254230001; C0432347; C536939; MEDGEN:96596; MONDO:0008621; ORPHA:1410","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008621","Disease_Description__c":"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.","GARD_Name__c":"Uncombable hair syndrome","GARD_Synonym__c":"pili trianguli et canaliculi; spun glass hair","Curated_Disease_Description_Source__c":"GARD:0005404","Curated_Disease_Description__c":"Uncombable hair syndrome is a condition that is characterized by dry, frizzy hair that cannot be combed flat. This condition develops in childhood, often between infancy and age 3, but can appear as late as age 12. Affected children have light-colored hair, described as blond or silvery with a glistening sheen. The hair does not grow downward but out from the scalp in multiple directions. Despite its appearance, the hair is not fragile or brittle, and it grows at a normal or slightly slower rate. Only scalp hair is affected in uncombable hair syndrome. For unknown reasons, this condition usually improves over time. By adolescence individuals with uncombable hair syndrome have hair that lies flat and has normal or nearly normal texture.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1410","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008621","ORPHANET_ID__c":"ORPHA:1410","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del cabello impeinable","Spanish_Description_Source__c":"ORPHA:1410","Spanish_Description__c":"El síndrome del cabello impeinable (SCI) o <i>pili trianguli et canaliculi</i>, es una displasia poco frecuente del tallo piloso del cuero cabelludo.","Spanish_Disease_Name__c":"síndrome del cabello impeinable","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":"Uncombable hair syndrome is a condition that is characterized by dry, frizzy hair that cannot be combed flat. This condition develops in childhood, often between infancy and age 3, but can appear as late as age 12. Affected children have light-colored hair, described as blond or silvery with a glistening sheen. The hair does not grow downward but out from the scalp in multiple directions. Despite its appearance, the hair is not fragile or brittle, and it grows at a normal or slightly slower rate. Only scalp hair is affected in uncombable hair syndrome. For unknown reasons, this condition usually improves over time. By adolescence individuals with uncombable hair syndrome have hair that lies flat and has normal or nearly normal texture.","Curated_Disease_Description_Source__c":"GARD:0005404","GARD_Synonym__c":"pili trianguli et canaliculi; spun glass hair","Name":"Uncombable hair syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"European Academy of Dermatology and Venereology","Website__c":"http://www.eadv.org/"},{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"},{"Account_Name__c":"The Ectodermal Dysplasia Society","Website__c":"https://edsociety.co.uk/"}],"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:1410"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005404","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432347","Source__c":"C0432347","Xref__c":"C0432347"},{"URL__c":"https://www.orpha.net/en/disease/detail/1410","Source__c":"C0432347; MONDO:0008621; ORPHA:1410","Xref__c":"ORPHA:1410"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254230001","Source__c":"C0432347; MONDO:0008621","Xref__c":"254230001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536939","Source__c":"MONDO:0008621","Xref__c":"C536939"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96596","Source__c":"C0432347","Xref__c":"MEDGEN:96596"},{"URL__c":"https://medlineplus.gov/genetics/condition/uncombable-hair-syndrome","Source__c":"GARD:0005404","Xref__c":"https://medlineplus.gov/genetics/condition/uncombable-hair-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008621","Source__c":"GARD:0005404","Xref__c":"MONDO:0008621"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PADI3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/padi3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TGM3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgm3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair shafts are rough in texture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002208","HPO_Synonym__c":"Coarse hair; Coarse hair texture","HPO_Name__c":"Coarse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental dysplasia of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002552","HPO_Name__c":"Trichodysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1410","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002232","HPO_Synonym__c":"Alopecia areata; Patchy baldness","HPO_Name__c":"Patchy alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypopigmented hair that appears white.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011364","HPO_Synonym__c":"White hair","HPO_Name__c":"White hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002224","HPO_Synonym__c":"Kinked hair; Wooly hair","HPO_Name__c":"Woolly hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["pili trianguli et canaliculi"," spun glass hair"],"spanishId":12120,"spanishName":"sindrome-del-cabello-impeinable"}