{"Name":"Short stature due to growth hormone qualitative anomaly","DiseaseID__c":"GARD:0000408","id":408,"encodedName":"short-stature-due-to-growth-hormone-qualitative-anomaly","IsDeleted":false,"Disease_Name_Full__c":"Short stature due to growth hormone qualitative anomaly","Xref_IDs__c":"C1849779; C537505; MEDGEN:340412; MONDO:0009879; OMIM:262650; ORPHA:629","USA_Estimate__c":"1,000","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":"1 to 8,000","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":2,"Description_Source__c":"MONDO:0009879","Disease_Description__c":"Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the <i>GH1</i> gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.","GARD_Name__c":"Short stature due to growth hormone qualitative anomaly","GARD_Synonym__c":"biodefective growth hormone; kowarski syndrome; pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin","Curated_Disease_Description_Source__c":"MONDO:0009879","Curated_Disease_Description__c":"Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:629","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009879","ORPHANET_ID__c":"ORPHA:629","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Talla baja por anomalía cualitativa de hormona de crecimiento","Spanish_Description_Source__c":"ORPHA:629","Spanish_Description__c":"Este síndrome se caracteriza por retraso en el crecimiento y estatura baja (a pesar de la presencia de niveles normales o elevados de hormona de crecimiento inmunorreactiva, GH), concentraciones bajas de factor de crecimiento insulínico tipo 1 (IGF-1) y un aumento significativo del nivel de crecimiento en respuesta al tratamiento con GH recombinante. La prevalencia es desconocida y en la literatura se han descrito sólo algunos casos. El síndrome está causado por varias mutaciones en el gen <i>GH1</i> (17q22-q24), que provocan anomalías estructurales del GH y en una molécula biológicamente inactiva. La transmisión es autosómica recesiva.","Spanish_Disease_Name__c":"talla baja por anomalía cualitativa de hormona de crecimiento","Spanish_GARD_Synonym__c":"síndrome de kowarski","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":"Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0009879","GARD_Synonym__c":"biodefective growth hormone; kowarski syndrome; pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin","Name":"Short stature due to growth hormone qualitative anomaly","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.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":"Infancy","Provided_By__c":"ORPHA:629"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:629"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1849779"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000408","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537505","Source__c":"MONDO:0009879","Xref__c":"C537505"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849779","Source__c":"C1849779","Xref__c":"C1849779"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340412","Source__c":"C1849779","Xref__c":"MEDGEN:340412"},{"URL__c":"https://www.orpha.net/en/disease/detail/629","Source__c":"C1849779; MONDO:0009879; ORPHA:629","Xref__c":"ORPHA:629"},{"URL__c":"https://www.omim.org/entry/262650","Source__c":"C1849779; MONDO:0009879; ORPHA:629","Xref__c":"OMIM:262650"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009879","Source__c":"GARD:0000408","Xref__c":"MONDO:0009879"}],"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 recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:262650","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262650","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262650","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262650","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":["biodefective growth hormone"," kowarski syndrome"," pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin"]}