{"Name":"Growth hormone insensitivity syndrome","DiseaseID__c":"GARD:0003924","id":3924,"encodedName":"growth-hormone-insensitivity-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Growth hormone insensitivity syndrome","Xref_IDs__c":"C129867; C4318479; MEDGEN:1384226; MONDO:0015892; ORPHA:181393","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015892","Disease_Description__c":"Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).","GARD_Name__c":"Growth hormone insensitivity syndrome","GARD_Synonym__c":"ghis; growth hormone insensitivity syndromes; short stature due to a defect in growth hormone receptor or post-receptor pathway","Curated_Disease_Description_Source__c":"MONDO:0015892","Curated_Disease_Description__c":"Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:181393","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015892","ORPHANET_ID__c":"ORPHA:181393","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de insensibilidad a la hormona de crecimiento","Spanish_Description_Source__c":"ORPHA:181393","Spanish_Description__c":"El síndrome de insensibilidad a la hormona de crecimiento (GHIS) representa un grupo de enfermedades caracterizadas por una marcada baja estatura, asociada a tasas normales o elevadas de hormona del crecimiento (GH), y que no responden a la administración de GH exógena. Este grupo incluye el retraso en el crecimiento por deficiencia de factor de crecimiento análogo a la insulina tipo 1 (IGF-1), el retraso en el crecimiento por resistencia al IGF-1, el síndrome de Laron, la baja estatura por deficiencia de STAT5b y por deficiencia primaria de subunidad ácido-lábil (ALS) (ver estos términos).","Spanish_Disease_Name__c":"síndrome de insensibilidad a la hormona de crecimiento","Spanish_GARD_Synonym__c":"ghis; talla baja por un defecto en la vía del receptor o post-receptor de la hormona de crecimiento","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":"Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).","Curated_Disease_Description_Source__c":"MONDO:0015892","GARD_Synonym__c":"ghis; growth hormone insensitivity syndromes; short stature due to a defect in growth hormone receptor or post-receptor pathway","Name":"Growth hormone insensitivity syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"},{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Human Growth Foundation","Website__c":"https://www.hgfound.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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0271568"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4318479","Source__c":"C4318479","Xref__c":"C4318479"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129867","Source__c":"C4318479; MONDO:0015892","Xref__c":"C129867"},{"URL__c":"https://www.orpha.net/en/disease/detail/181393","Source__c":"C4318479; MONDO:0015892; ORPHA:181393","Xref__c":"ORPHA:181393"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1384226","Source__c":"C4318479","Xref__c":"MEDGEN:1384226"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015892","Source__c":"GARD:0003924","Xref__c":"MONDO:0015892"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine"]},"synonyms":["ghis"," growth hormone insensitivity syndromes"," short stature due to a defect in growth hormone receptor or post-receptor pathway"]}