{"Name":"Familial hypoparathyroidism","DiseaseID__c":"GARD:0002910","id":2910,"encodedName":"familial-hypoparathyroidism","IsDeleted":false,"Disease_Name_Full__c":"Familial hypoparathyroidism","Xref_IDs__c":"725036000; C1832648; C537156; DOID:0111387; MEDGEN:322005; MONDO:0016390; OMIMPS:146200; ORPHA:2238","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016390","Disease_Description__c":"A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.","GARD_Name__c":"Familial hypoparathyroidism","GARD_Synonym__c":"casr-related familial isolated hypoparathyroidism; familial isolated hypoparathyroidism; fih; gcm2-related familial isolated hypoparathyroidism; hypoparathyroidism familial isolated; hypoparathyroidism, familial; hypoparathyroidism, familial isolated; pth-related familial isolated hypoparathyroidism","Curated_Disease_Description_Source__c":"MONDO:0016390","Curated_Disease_Description__c":"A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.","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:2238","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016390","ORPHANET_ID__c":"ORPHA:2238","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoparatiroidismo aislado familiar","Spanish_Description_Source__c":"ORPHA:2238","Spanish_Description__c":"Es un grupo heterogéneo de trastornos metabólicos poco frecuente caracterizado por una alteración del metabolismo del calcio que causa hipocalcemia debido a una disminución de los niveles séricos de paratohormona bioactiva (PTH), sin asociar otros trastornos endocrinos o defectos del desarrollo.","Spanish_Disease_Name__c":"hipoparatiroidismo aislado familiar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97978","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 heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.","Curated_Disease_Description_Source__c":"MONDO:0016390","GARD_Synonym__c":"casr-related familial isolated hypoparathyroidism; familial isolated hypoparathyroidism; fih; gcm2-related familial isolated hypoparathyroidism; hypoparathyroidism familial isolated; hypoparathyroidism, familial; hypoparathyroidism, familial isolated; pth-related familial isolated hypoparathyroidism","Name":"Familial hypoparathyroidism","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Parathyroid UK","Website__c":"https://parathyroiduk.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2238"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725036000","Source__c":"C1832648; MONDO:0016390","Xref__c":"725036000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111387","Source__c":"MONDO:0016390","Xref__c":"DOID:0111387"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832648","Source__c":"C1832648","Xref__c":"C1832648"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS146200","Source__c":"MONDO:0016390","Xref__c":"OMIMPS:146200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322005","Source__c":"C1832648","Xref__c":"MEDGEN:322005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537156","Source__c":"MONDO:0016390","Xref__c":"C537156"},{"URL__c":"https://www.orpha.net/en/disease/detail/2238","Source__c":"C1832648; MONDO:0016390; ORPHA:2238","Xref__c":"ORPHA:2238"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016390","Source__c":"GARD:0002910","Xref__c":"MONDO:0016390"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Very frequent (80-99%)","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:2238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Very frequent (80-99%)","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:2238","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000684","HPO_Synonym__c":"Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption","HPO_Name__c":"Delayed eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100530","HPO_Synonym__c":"Abnormal Ca-PHOS regulating hormone level; Abnormal Ca2+ PO4 regulating hormone level","HPO_Name__c":"Abnormal circulating calcium-phosphate regulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002905","HPO_Synonym__c":"High blood phosphate levels","HPO_Name__c":"Hyperphosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007352","HPO_Name__c":"Cerebellar calcifications","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pathological deposition of calcium salts in the globus pallidus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031627","HPO_Name__c":"Globus pallidus calcification","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025425","HPO_Name__c":"Laryngospasm","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2238","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003472","HPO_Name__c":"Hypocalcemic tetany","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Ophthalmology","Endocrine","Anterior segment of Eye","Pediatrics"]},"synonyms":["casr-related familial isolated hypoparathyroidism"," familial isolated hypoparathyroidism"," fih"," gcm2-related familial isolated hypoparathyroidism"," hypoparathyroidism familial isolated"," hypoparathyroidism, familial"," hypoparathyroidism, familial isolated"," pth-related familial isolated hypoparathyroidism"]}