{"Name":"Harlequin syndrome","DiseaseID__c":"GARD:0008610","id":8610,"encodedName":"harlequin-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Harlequin syndrome","Xref_IDs__c":"14070001000004105; C2029348; C535634; MEDGEN:384475; MONDO:0016040; ORPHA:199282","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016040","Disease_Description__c":"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.","GARD_Name__c":"Harlequin syndrome","GARD_Synonym__c":"progressive isolated segmental anhidrosis","Curated_Disease_Description_Source__c":"GARD:0008610","Curated_Disease_Description__c":"Harlequin syndrome is a syndrome affecting the autonomic nervous system. The autonomic nervous system is responsible for controlling the body's natural processes such as sweating, skin flushing, and the response of the pupils to stimuli. People with Harlequin syndrome have absence of sweating and flushing of skin on one side of the body (unilateral), especially of the face, arms, and chest. The symptoms associated with Harlequin syndrome may be more likely to occur when a person has been exercising, is very warm, or is in an intense emotional situation. In these situations, one side of the body sweats and flushes appropriately as a response to the situation, whereas the other side of the body does not. The asymmetrical facial sweating and flushing associated with this condition has been named the 'Harlequin sign.' Harlequin syndrome is thought to be one of a spectrum of diseases that can cause Harlequin sign. The exact cause of Harlequin syndrome is not completely understood. Diagnosis of Harlequin syndrome is based on observing symptoms consistent with the syndrome, followed by a series of tests to rule out other diseases associated with Harlequin sign.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:199282","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016040","ORPHANET_ID__c":"ORPHA:199282","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del arlequín","Spanish_Description_Source__c":"ORPHA:199282","Spanish_Description__c":"El síndrome del arlequín (HSD) es un trastorno autonómico que se produce a cualquier edad y se caracteriza por enrojecimiento y sudoración unilaterales, afectando a la cara y, a veces, brazos y pecho, en condiciones de estrés térmico, por ejercicio o emocional, con inervaciones simpáticas oculares normales. Sin embargo, pueden darse, con baja frecuencia: pupilas tónicas, lesiones oculomotoras parasimpáticas y déficit simpático sudomotor pre o postganglionar.","Spanish_Disease_Name__c":"síndrome del arlequín","Spanish_GARD_Synonym__c":"anhidrosis segmentaria progresiva aislada","Category_Linearization__c":"ORPHA:98006","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":"Harlequin syndrome is a syndrome affecting the autonomic nervous system. The autonomic nervous system is responsible for controlling the body's natural processes such as sweating, skin flushing, and the response of the pupils to stimuli. People with Harlequin syndrome have absence of sweating and flushing of skin on one side of the body (unilateral), especially of the face, arms, and chest. The symptoms associated with Harlequin syndrome may be more likely to occur when a person has been exercising, is very warm, or is in an intense emotional situation. In these situations, one side of the body sweats and flushes appropriately as a response to the situation, whereas the other side of the body does not. The asymmetrical facial sweating and flushing associated with this condition has been named the 'Harlequin sign.' Harlequin syndrome is thought to be one of a spectrum of diseases that can cause Harlequin sign. The exact cause of Harlequin syndrome is not completely understood. Diagnosis of Harlequin syndrome is based on observing symptoms consistent with the syndrome, followed by a series of tests to rule out other diseases associated with Harlequin sign.","Curated_Disease_Description_Source__c":"GARD:0008610","GARD_Synonym__c":"progressive isolated segmental anhidrosis","Name":"Harlequin 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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:199282"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2029348"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=384475","Source__c":"C2029348","Xref__c":"MEDGEN:384475"},{"URL__c":"https://www.orpha.net/en/disease/detail/199282","Source__c":"C2029348; MONDO:0016040; ORPHA:199282","Xref__c":"ORPHA:199282"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2029348","Source__c":"C2029348","Xref__c":"C2029348"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535634","Source__c":"MONDO:0016040","Xref__c":"C535634"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=14070001000004105","Source__c":"C2029348; MONDO:0016040","Xref__c":"14070001000004105"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016040","Source__c":"GARD:0008610","Xref__c":"MONDO:0016040"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A unilateral form of ptosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007687","HPO_Synonym__c":"Dropping of one upper eyelid","HPO_Name__c":"Unilateral ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002277","HPO_Synonym__c":"Horner's syndrome; Oculosympathetic palsy","HPO_Name__c":"Horner syndrome","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal (non-physiological) constriction of the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000616","HPO_Synonym__c":"Constricted pupils; Pupillary constriction","HPO_Name__c":"Miosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012199","HPO_Name__c":"Cluster headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy affecting the sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000763","HPO_Synonym__c":"Damage to nerves that sense feeling; Peripheral sensory neuropathy","HPO_Name__c":"Sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033850","HPO_Synonym__c":"Cold skin temperature; Cool skin; Cool skin temperature; Coolness to palpation","HPO_Name__c":"Coldness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased lacrimation, that is, excessive tearing (watering eye).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009926","HPO_Synonym__c":"Increased lacrimation; Increased tears; Tearing; Watery eyes","HPO_Name__c":"Epiphora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000970","HPO_Synonym__c":"Anhydrosis; Lack of sweating; Sudomotor dysfunction; Sweating dysfunction","HPO_Name__c":"Anhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004302","HPO_Synonym__c":"Functional motor problems","HPO_Name__c":"Functional motor deficit","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased discharge of mucus from the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031417","HPO_Synonym__c":"Nasal Discharge; Runny Nose","HPO_Name__c":"Rhinorrhea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199282","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031284","HPO_Name__c":"Flushing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["progressive isolated segmental anhidrosis"]}