{"Name":"HELIX syndrome","DiseaseID__c":"GARD:0017967","id":17967,"encodedName":"helix-syndrome","IsDeleted":false,"Disease_Name_Full__c":"HELIX syndrome","Xref_IDs__c":"1217380005; C4522164; MEDGEN:1621482; MONDO:0060564; OMIM:617671; ORPHA:528105","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:528105","Disease_Description__c":"A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.","GARD_Name__c":"HELIX syndrome","GARD_Synonym__c":"helix; helix (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome; hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome","Curated_Disease_Description_Source__c":"ORPHA:528105","Curated_Disease_Description__c":"A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:528105","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0060564","ORPHANET_ID__c":"ORPHA:528105","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipohidrosis-desequilibrio electrolítico-disfunción de las glándulas lagrimales-ictiosis-xerostomía","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hipohidrosis-desequilibrio electrolítico-disfunción de las glándulas lagrimales-ictiosis-xerostomía","Spanish_GARD_Synonym__c":"síndrome helix","Category_Linearization__c":"ORPHA:93626","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":"A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.","Curated_Disease_Description_Source__c":"ORPHA:528105","GARD_Synonym__c":"helix; helix (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome; hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome","Name":"HELIX 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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:528105"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:528105"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:528105"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4522164","Source__c":"C4522164","Xref__c":"C4522164"},{"URL__c":"https://www.omim.org/entry/617671","Source__c":"C4522164; MONDO:0060564; ORPHA:528105","Xref__c":"OMIM:617671"},{"URL__c":"https://www.orpha.net/en/disease/detail/528105","Source__c":"C4522164; MONDO:0060564; ORPHA:528105","Xref__c":"ORPHA:528105"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1621482","Source__c":"C4522164","Xref__c":"MEDGEN:1621482"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1217380005","Source__c":"C4522164","Xref__c":"1217380005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0060564","Source__c":"GARD:0017967","Xref__c":"MONDO:0060564"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CLDN10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617671","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617671","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased magnesium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002918","HPO_Synonym__c":"High blood magnesium levels; High blood Mg levels","HPO_Name__c":"Hypermagnesemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:617671","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of tear secretion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000522","HPO_Synonym__c":"Absence of tears in the eyes; Absent lacrimal fluids; Absent tear secretion","HPO_Name__c":"Alacrima","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617671","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive production of parathyroid hormone (PTH) by the parathyroid glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000843","HPO_Synonym__c":"Elevated blood parathyroid hormone level","HPO_Name__c":"Hyperparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617671","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617671","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:617671","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dryness of the mouth due to salivary gland dysfunction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000217","HPO_Synonym__c":"Dry mouth; Dry mouth syndrome; Reduced salivation","HPO_Name__c":"Xerostomia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617671","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617671","Feature__r":{"HPO_Description__c":"Excessive thirst manifested by excessive fluid intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001959","HPO_Synonym__c":"Extreme thirst","HPO_Name__c":"Polydipsia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617671","Feature__r":{"HPO_Description__c":"The inability to maintain a comfortable body temperature in warm or hot weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002046","HPO_Synonym__c":"Heat intolerance; Intolerance to heat and fevers","HPO_Name__c":"Heat intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617671","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:617671","Feature__r":{"HPO_Description__c":"An increased rate of urine production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000103","HPO_Synonym__c":"Increased urine output","HPO_Name__c":"Polyuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617671","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617671","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003127","HPO_Synonym__c":"Low urine calcium levels","HPO_Name__c":"Hypocalciuria","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Ophthalmology","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["helix"," helix (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome"," hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome"," hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia"," hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome"]}