{"Name":"Hypoparathyroidism, deafness, renal disease syndrome","DiseaseID__c":"GARD:0002911","id":2911,"encodedName":"hypoparathyroidism-deafness-renal-disease-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypoparathyroidism, deafness, renal disease syndrome","Xref_IDs__c":"724282009; C130983; C1840333; C537907; DOID:0060878; MEDGEN:374443; MONDO:0007797; OMIM:146255; ORPHA:2237","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"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:0007797","Disease_Description__c":"Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).","GARD_Name__c":"Hypoparathyroidism, deafness, renal disease syndrome","GARD_Synonym__c":"barakat syndrome; hdr (hypoparathyroidism, sensorineural deafness, renal disease) syndrome; hdr syndrome; hdrs; hypoparathyroidism-deafness-renal disease syndrome; hypoparathyroidism-sensorineural deafness-renal disease syndrome; hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; hypoparathyroidism, deafness, and renal anomalies syndrome; hypoparathyroidism, sensorineural deafness, and renal disease; hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome","Curated_Disease_Description_Source__c":"GARD:0002911","Curated_Disease_Description__c":"Hypoparathyroidism-sensorineural deafness-renal disease syndrome (HDR syndrome), also known as Barakat syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism, sensorineural deafness, and renal (kidney) disease. However, specific symptoms and severity can vary. About 65% of people with Barakat syndrome have all three of these features, while the others have various combinations of these features. Some people with Barakat syndrome have one or more of these as well as additional features. Hypoparathyroidism leads to low levels of calcium in the blood (hypocalcemia), which can cause symptoms such as muscle pain, muscle spasms, seizures, and rarely, cardiomyopathy. Hearing loss is the most consistent feature of Barakat syndrome. It is usually bilateral and can range from moderate to profound. The type of kidney disease present can vary from person to person. For example, some people with Barakat syndrome are born with structural kidney or urinary tract abnormalities (underdeveloped or abnormally-formed), while others may have functional abnormalities (such as nephrotic syndrome, hematuria, renal tubular acidosis, or chronic kidney disease). Various additional features have been reported in some people with Barakat syndrome such as polycystic ovaries, distinctive facial features, ischemic stroke, retinitis pigmentosa, intellectual disability, growth failure, congenital heart disease, and other birth defects. Most cases of Barakat syndrome are caused by genetic changes in the GATA3 gene, or by a missing piece (deletion) of genetic material on chromosome 10 that includes the GATA3 gene. Inheritance is autosomal dominant. In some cases, the genetic cause is unknown. Barakat syndrome can be clinically diagnosed (without genetic testing) in a person with the complete triad of hypoparathyroidism, sensorineural deafness, and renal disease; or, in a person with two of these features who also has a positive family history. For those who have only deafness or renal disease, and for others who do not fit this criteria, genetic testing that identifies a GATA3 genetic change is needed to confirm the diagnosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2237","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007797","ORPHANET_ID__c":"ORPHA:2237","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoparatiroidismo-sordera neurosensorial-enfermedad renal","Spanish_Description_Source__c":"ORPHA:2237","Spanish_Description__c":"El síndrome de hipoparatiroidismo - sordera neurosensorial - enfermedad renal, es un trastorno genético poco frecuente, clínicamente heterogéneo, caracterizado por la tríada de hipoparatiroidismo (H), sordera neurosensorial (D) y enfermedad renal (R).","Spanish_Disease_Name__c":"síndrome de hipoparatiroidismo-sordera neurosensorial-enfermedad renal","Spanish_GARD_Synonym__c":"síndrome de barakat; síndrome de hipoparatiroidismo-hipoacusia neurosensorial-enfermedad renal; síndrome hdr","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":"Hypoparathyroidism-sensorineural deafness-renal disease syndrome (HDR syndrome), also known as Barakat syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism, sensorineural deafness, and renal (kidney) disease. However, specific symptoms and severity can vary. About 65% of people with Barakat syndrome have all three of these features, while the others have various combinations of these features. Some people with Barakat syndrome have one or more of these as well as additional features. Hypoparathyroidism leads to low levels of calcium in the blood (hypocalcemia), which can cause symptoms such as muscle pain, muscle spasms, seizures, and rarely, cardiomyopathy. Hearing loss is the most consistent feature of Barakat syndrome. It is usually bilateral and can range from moderate to profound. The type of kidney disease present can vary from person to person. For example, some people with Barakat syndrome are born with structural kidney or urinary tract abnormalities (underdeveloped or abnormally-formed), while others may have functional abnormalities (such as nephrotic syndrome, hematuria, renal tubular acidosis, or chronic kidney disease). Various additional features have been reported in some people with Barakat syndrome such as polycystic ovaries, distinctive facial features, ischemic stroke, retinitis pigmentosa, intellectual disability, growth failure, congenital heart disease, and other birth defects. Most cases of Barakat syndrome are caused by genetic changes in the GATA3 gene, or by a missing piece (deletion) of genetic material on chromosome 10 that includes the GATA3 gene. Inheritance is autosomal dominant. In some cases, the genetic cause is unknown. Barakat syndrome can be clinically diagnosed (without genetic testing) in a person with the complete triad of hypoparathyroidism, sensorineural deafness, and renal disease; or, in a person with two of these features who also has a positive family history. For those who have only deafness or renal disease, and for others who do not fit this criteria, genetic testing that identifies a GATA3 genetic change is needed to confirm the diagnosis.","Curated_Disease_Description_Source__c":"GARD:0002911","GARD_Synonym__c":"barakat syndrome; hdr (hypoparathyroidism, sensorineural deafness, renal disease) syndrome; hdr syndrome; hdrs; hypoparathyroidism-deafness-renal disease syndrome; hypoparathyroidism-sensorineural deafness-renal disease syndrome; hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; hypoparathyroidism, deafness, and renal anomalies syndrome; hypoparathyroidism, sensorineural deafness, and renal disease; hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome","Name":"Hypoparathyroidism, deafness, renal disease syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.org/"},{"Account_Name__c":"HypoPARAthyroidism Association, Inc.","Website__c":"https://hypopara.org/"},{"Account_Name__c":"Parathyroid UK","Website__c":"https://parathyroiduk.org/"},{"Account_Name__c":"National Kidney Federation","Website__c":"http://www.kidney.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"All ages","Provided_By__c":"ORPHA:2237"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1840333"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002911","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C130983","Source__c":"C1840333; MONDO:0007797","Xref__c":"C130983"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=374443","Source__c":"C1840333","Xref__c":"MEDGEN:374443"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537907","Source__c":"MONDO:0007797","Xref__c":"C537907"},{"URL__c":"https://www.omim.org/entry/146255","Source__c":"C1840333; MONDO:0007797; ORPHA:2237","Xref__c":"OMIM:146255"},{"URL__c":"https://www.orpha.net/en/disease/detail/2237","Source__c":"C1840333; MONDO:0007797; ORPHA:2237","Xref__c":"ORPHA:2237"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724282009","Source__c":"C1840333; MONDO:0007797","Xref__c":"724282009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840333","Source__c":"C1840333","Xref__c":"C1840333"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060878","Source__c":"MONDO:0007797","Xref__c":"DOID:0060878"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007797","Source__c":"GARD:0002911","Xref__c":"MONDO:0007797"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GATA3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000151","HPO_Synonym__c":"Absent uterus; uterus absent","HPO_Name__c":"Aplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008850","HPO_Synonym__c":"Marked growth retardation; Severe growth delay in children; Severe postnatal growth deficiency; Severe postnatal growth failure","HPO_Name__c":"Severe postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000829","HPO_Synonym__c":"Decreased parathyroid hormone secretion; Low parathyroid hormone","HPO_Name__c":"Hypoparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003762","HPO_Synonym__c":"Didelphic uteri; Didelphic uterus; Didelphyc uterus; Doubling of uterus; Duplex uterus; Duplicated uterus; Duplication of uterus; Uterine didelphis; Uterine didelphys; Uterus didelphis; Uterus didelphus; Uterus duplex","HPO_Name__c":"Uterus didelphys","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003765","HPO_Synonym__c":"Psoriasis","HPO_Name__c":"Psoriasiform dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002199","HPO_Synonym__c":"Low calcium seizures; Seizures due to hypocalcemia","HPO_Name__c":"Hypocalcemic seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the parathyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000860","HPO_Synonym__c":"Small parathyroid glands; Underdeveloped parathyroid glands","HPO_Name__c":"Parathyroid hypoplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A functional anomaly of T cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011840","HPO_Synonym__c":"Abnormality of T cell physiology; Impaired T cell function","HPO_Name__c":"Abnormal T cell physiology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002901","HPO_Synonym__c":"Hypocalcaemia; Low blood calcium levels","HPO_Name__c":"Hypocalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A progressive form of sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000408","HPO_Synonym__c":"Bilateral progressive sensorineural hearing loss; Hearing loss, progressive sensorineural; Hearing loss, sensorineural, bilateral, progressive; Hearing loss, sensorineural, progressive; Progressive bilateral sensorineural hearing loss; Sensorineural hearing loss, progressive","HPO_Name__c":"Progressive sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000110","HPO_Synonym__c":"Dysplastic kidneys; Renal adysplasia","HPO_Name__c":"Renal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000148","HPO_Synonym__c":"Abnormally closed or absent vagina","HPO_Name__c":"Vaginal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple cysts in both kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000113","HPO_Synonym__c":"Polycystic kidneys","HPO_Name__c":"Polycystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A unilateral form of agenesis of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000122","HPO_Synonym__c":"Absent kidney on one side; Missing one kidney; Single kidney; Unilateral kidney agenesis","HPO_Name__c":"Unilateral renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2237","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:2237","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001153","HPO_Synonym__c":"Double vagina","HPO_Name__c":"Septate vagina","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly","Nephrology"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Endocrine","Otolaryngology","Pediatrics"]},"synonyms":["barakat syndrome"," hdr (hypoparathyroidism, sensorineural deafness, renal disease) syndrome"," hdr syndrome"," hdrs"," hypoparathyroidism-deafness-renal disease syndrome"," hypoparathyroidism-sensorineural deafness-renal disease syndrome"," hypoparathyroidism-sensorineural hearing loss-renal disease syndrome"," hypoparathyroidism, deafness, and renal anomalies syndrome"," hypoparathyroidism, sensorineural deafness, and renal disease"," hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome"]}