{"Name":"Autosomal dominant isolated somatotropin deficiency","DiseaseID__c":"GARD:0001696","id":1696,"encodedName":"autosomal-dominant-isolated-somatotropin-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant isolated somatotropin deficiency","Xref_IDs__c":"237687003; C0271567; C562704; DOID:0060872; MEDGEN:124405; MONDO:0008250; OMIM:173100; ORPHA:231679","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:231679","Disease_Description__c":"Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012).","GARD_Name__c":"Autosomal dominant isolated somatotropin deficiency","GARD_Synonym__c":"autosomal dominant isolated growth hormone deficiency; autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency; congenital ighd type ii; congenital isolated gh deficiency type ii; congenital isolated growth hormone deficiency type ii; growth hormone deficiency, isolated, type ii; idiopathic growth hormone deficiency type ii; ighd ii; ighd2; isolated growth hormone deficiency - autosomal dominant; isolated growth hormone deficiency type ii; isolated growth hormone deficiency, type ii","Curated_Disease_Description_Source__c":"ORPHA:231679","Curated_Disease_Description__c":"Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:231679","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008250","ORPHANET_ID__c":"ORPHA:231679","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia aislada de hormona de crecimiento tipo ii","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia aislada de hormona de crecimiento tipo ii","Spanish_GARD_Synonym__c":"deficiencia congénita aislada de gh tipo ii; deficiencia congénita aislada de hormona de crecimiento tipo ii; ighd congénito tipo ii","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":"Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012).","Curated_Disease_Description_Source__c":"ORPHA:231679","GARD_Synonym__c":"autosomal dominant isolated growth hormone deficiency; autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency; congenital ighd type ii; congenital isolated gh deficiency type ii; congenital isolated growth hormone deficiency type ii; growth hormone deficiency, isolated, type ii; idiopathic growth hormone deficiency type ii; ighd ii; ighd2; isolated growth hormone deficiency - autosomal dominant; isolated growth hormone deficiency type ii; isolated growth hormone deficiency, type ii","Name":"Autosomal dominant isolated somatotropin deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Raymond A. Wood Foundation","Website__c":"https://www.rawoodfoundation.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":"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":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:231679"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231679"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0271567"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001696","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237687003","Source__c":"C0271567; MONDO:0008250","Xref__c":"237687003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060872","Source__c":"MONDO:0008250","Xref__c":"DOID:0060872"},{"URL__c":"https://www.orpha.net/en/disease/detail/231679","Source__c":"C0271567; MONDO:0008250; ORPHA:231679","Xref__c":"ORPHA:231679"},{"URL__c":"https://www.omim.org/entry/173100","Source__c":"C0271567; MONDO:0008250","Xref__c":"OMIM:173100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124405","Source__c":"C0271567","Xref__c":"MEDGEN:124405"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562704","Source__c":"MONDO:0008250","Xref__c":"C562704"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271567","Source__c":"C0271567","Xref__c":"C0271567"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008250","Source__c":"GARD:0001696","Xref__c":"MONDO:0008250"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gh1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:173100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030353","HPO_Name__c":"Decreased circulating serum insulin-like growth factor 1 concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:173100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:173100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000824","HPO_Name__c":"Decreased response to growth hormone stimulation test","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:173100","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":"OMIM:173100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010627","HPO_Synonym__c":"Small anterior pituitary lobe; Underdeveloped pituitary gland","HPO_Name__c":"Anterior pituitary hypoplasia","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:173100","Feature__r":{"HPO_Description__c":"A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000839","HPO_Name__c":"Pituitary dwarfism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"],"Account":["Pituitary deficiency"]},"synonyms":["autosomal dominant isolated growth hormone deficiency"," autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency"," congenital ighd type ii"," congenital isolated gh deficiency type ii"," congenital isolated growth hormone deficiency type ii"," growth hormone deficiency, isolated, type ii"," idiopathic growth hormone deficiency type ii"," ighd ii"," ighd2"," isolated growth hormone deficiency - autosomal dominant"," isolated growth hormone deficiency type ii"," isolated growth hormone deficiency, type ii"]}