{"Name":"Waardenburg syndrome type 2","DiseaseID__c":"GARD:0005520","id":5520,"encodedName":"waardenburg-syndrome-type-2","IsDeleted":false,"Disease_Name_Full__c":"Waardenburg syndrome type 2","Xref_IDs__c":"1010636000; C2700265; C536463; C75009; MEDGEN:398443; MONDO:0019517; ORPHA:895","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019517","Disease_Description__c":"An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.","GARD_Name__c":"Waardenburg syndrome type 2","GARD_Synonym__c":"waardenburg syndrome type ii; ws2","Curated_Disease_Description_Source__c":"GARD:0005520","Curated_Disease_Description__c":"Waardenburg syndrome type 2 (WS2) is a type of Waardenburg syndrome characterized by varying degrees of deafness and pigmentation (coloring) abnormalities of the eyes, hair and/or skin. WS2 differs from type 1 and some other types of WS by the absence of dystopia canthorum (lateral displacement of the inner canthi of the eyes). Sensorineural hearing loss occurs in the majority of people with WS2, and heterochromia iridis (differences in eye coloring) occurs in about half. Progressive hearing loss has also been reported in some people with WS2. WS2 may be caused by changes in any of several genes, but in many cases the genetic cause is unknown. While inheritance is usually autosomal dominant, sometimes WS2 is not inherited, occurring for the first time in someone with no family history of the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:895","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019517","ORPHANET_ID__c":"ORPHA:895","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de waardenburg tipo 2","Spanish_Description_Source__c":"ORPHA:895","Spanish_Description__c":"Es un subtipo del síndrome de Waardenburg (SW) de herencia autosómica dominante, que se caracteriza por grados variables de sordera y anomalías de pigmentación de los ojos, cabello y piel, pero sin distopia cantorum.","Spanish_Disease_Name__c":"síndrome de waardenburg tipo 2","Spanish_GARD_Synonym__c":"síndrome de waardenburg tipo ii; ws2","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":"Waardenburg syndrome type 2 (WS2) is a type of Waardenburg syndrome characterized by varying degrees of deafness and pigmentation (coloring) abnormalities of the eyes, hair and/or skin. WS2 differs from type 1 and some other types of WS by the absence of dystopia canthorum (lateral displacement of the inner canthi of the eyes). Sensorineural hearing loss occurs in the majority of people with WS2, and heterochromia iridis (differences in eye coloring) occurs in about half. Progressive hearing loss has also been reported in some people with WS2. WS2 may be caused by changes in any of several genes, but in many cases the genetic cause is unknown. While inheritance is usually autosomal dominant, sometimes WS2 is not inherited, occurring for the first time in someone with no family history of the condition.","Curated_Disease_Description_Source__c":"GARD:0005520","GARD_Synonym__c":"waardenburg syndrome type ii; ws2","Name":"Waardenburg syndrome type 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The National Organization of Albinism and Hypopigmentation (NOAH)","Website__c":"https://www.albinism.org/"},{"Account_Name__c":"The Vision of Children Foundation","Website__c":"https://www.visionofchildren.org/"}],"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:895"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2700265"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005520","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2700265","Source__c":"C2700265","Xref__c":"C2700265"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C75009","Source__c":"C2700265; MONDO:0019517","Xref__c":"C75009"},{"URL__c":"https://www.orpha.net/en/disease/detail/895","Source__c":"C2700265; MONDO:0019517; ORPHA:895","Xref__c":"ORPHA:895"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=398443","Source__c":"C2700265","Xref__c":"MEDGEN:398443"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536463","Source__c":"MONDO:0019517","Xref__c":"C536463"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1010636000","Source__c":"C2700265","Xref__c":"1010636000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019517","Source__c":"GARD:0005520","Xref__c":"MONDO:0019517"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EDNRB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ednrb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KITLG","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SOX10","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sox10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SNAI2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/snai2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MITF","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mitf","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Development of gray hair at a younger than normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002216","HPO_Synonym__c":"Early graying; Premature graying; Premature graying of hair; Premature hair graying","HPO_Name__c":"Premature graying of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004414","HPO_Synonym__c":"Abnormality of lung artery","HPO_Name__c":"Abnormality of the pulmonary artery","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005599","HPO_Synonym__c":"Hair hypopigmentation; Loss of hair color","HPO_Name__c":"Hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002251","HPO_Synonym__c":"Enlarged colon lacking nerve cells; Hirschsprung megacolon","HPO_Name__c":"Aganglionic megacolon","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A triangular depigmented region of white hairs located in the anterior midline of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002211","HPO_Synonym__c":"Poliosis of anterior hair; Poliosis of forelock hair; White part of hair above forehead","HPO_Name__c":"White forelock","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:895","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Otolaryngology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["waardenburg syndrome type ii"," ws2"]}