{"Name":"Deafness-vitiligo-achalasia syndrome","DiseaseID__c":"GARD:0001705","id":1705,"encodedName":"deafness-vitiligo-achalasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Deafness-vitiligo-achalasia syndrome","Xref_IDs__c":"C1857339; C565642; MEDGEN:347427; MONDO:0009085; OMIM:221350; ORPHA:3239","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009085","Disease_Description__c":"Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.","GARD_Name__c":"Deafness-vitiligo-achalasia syndrome","GARD_Synonym__c":"deafness, congenital, with vitiligo and achalasia; hearing loss-vitiligo-achalasia syndrome","Curated_Disease_Description_Source__c":"GARD:0001705","Curated_Disease_Description__c":"Deafness-vitiligo-achalasia syndrome (also known as congenital deafness with vitiligo and achalasia) is characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be inherited in an autosomal recessive manner.","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:3239","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009085","ORPHANET_ID__c":"ORPHA:3239","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sordera-vitíligo-acalasia","Spanish_Description_Source__c":"ORPHA:3239","Spanish_Description__c":"Es un síndrome caracterizado por la asociación de sordera, talla baja, vitíligo, atrofia muscular y acalasia.","Spanish_Disease_Name__c":"síndrome de sordera-vitíligo-acalasia","Spanish_GARD_Synonym__c":"síndrome de hipoacusia-vitíligo-acalasia","Category_Linearization__c":"ORPHA:98036","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":"Deafness-vitiligo-achalasia syndrome (also known as congenital deafness with vitiligo and achalasia) is characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0001705","GARD_Synonym__c":"deafness, congenital, with vitiligo and achalasia; hearing loss-vitiligo-achalasia syndrome","Name":"Deafness-vitiligo-achalasia 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":"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:3239"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3239"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347427","Source__c":"C1857339","Xref__c":"MEDGEN:347427"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565642","Source__c":"MONDO:0009085","Xref__c":"C565642"},{"URL__c":"https://www.orpha.net/en/disease/detail/3239","Source__c":"C1857339; MONDO:0009085","Xref__c":"ORPHA:3239"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857339","Source__c":"C1857339","Xref__c":"C1857339"},{"URL__c":"https://www.omim.org/entry/221350","Source__c":"C1857339; MONDO:0009085; ORPHA:3239","Xref__c":"OMIM:221350"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009085","Source__c":"GARD:0001705","Xref__c":"MONDO:0009085"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3239","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:3239","HPO_Frequency__c":"Very frequent (80-99%)","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:3239","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002571","HPO_Synonym__c":"Achalasia of the esophagus","HPO_Name__c":"Achalasia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3239","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3239","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3239","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["deafness, congenital, with vitiligo and achalasia"," hearing loss-vitiligo-achalasia syndrome"]}