{"Name":"Short stature due to growth hormone secretagogue receptor deficiency","DiseaseID__c":"GARD:0017436","id":17436,"encodedName":"short-stature-due-to-growth-hormone-secretagogue-receptor-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Short stature due to growth hormone secretagogue receptor deficiency","Xref_IDs__c":"766817004; C5887324; MEDGEN:1857733; MONDO:0014403; OMIM:615925; ORPHA:314811","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014403","Disease_Description__c":"Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.","GARD_Name__c":"Short stature due to growth hormone secretagogue receptor deficiency","GARD_Synonym__c":"ghdp; ghrelin receptor deficiency; short stature due to ghsr deficiency","Curated_Disease_Description_Source__c":"ORPHA:314811","Curated_Disease_Description__c":"Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature. The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.","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:314811","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014403","ORPHANET_ID__c":"ORPHA:314811","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Talla baja por deficiencia de ghsr","Spanish_Description_Source__c":"ORPHA:314811","Spanish_Description__c":"La talla baja debida a una deficiencia de GHSR, es un trastorno endocrino genético y poco frecuente del crecimiento, que resulta de la deficiencia del receptor de secretagogos de la hormona del crecimiento (GHSR). Está caracterizado por un retraso en el crecimiento postnatal que resulta en talla baja (menos de -2 SD). Por lo general, la glándula pituitaria no presenta cambios morfológicos, aunque se ha descrito algún caso de hipoplasia de la glándula pituitaria anterior.","Spanish_Disease_Name__c":"talla baja por deficiencia de ghsr","Spanish_GARD_Synonym__c":"deficiencia del receptor de ghrelina; talla baja por deficiencia del receptor de secretagogos 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":"Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature. The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.","Curated_Disease_Description_Source__c":"ORPHA:314811","GARD_Synonym__c":"ghdp; ghrelin receptor deficiency; short stature due to ghsr deficiency","Name":"Short stature due to growth hormone secretagogue receptor deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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"},{"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:314811"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:314811"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/615925","Source__c":"C5887324; MONDO:0014403; ORPHA:314811","Xref__c":"OMIM:615925"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766817004","Source__c":"MONDO:0014403","Xref__c":"766817004"},{"URL__c":"https://www.orpha.net/en/disease/detail/314811","Source__c":"C5887324; MONDO:0014403","Xref__c":"ORPHA:314811"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1857733","Source__c":"C5887324","Xref__c":"MEDGEN:1857733"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014403","Source__c":"GARD:0017436","Xref__c":"MONDO:0014403"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5887324","Source__c":"C5887324","Xref__c":"C5887324"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GHSR","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:314811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally low body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004325","HPO_Synonym__c":"Decreased body weight; Decreased weight; Low body weight; Low weight; Weight less than 3rd percentile","HPO_Name__c":"Decreased body weight","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:314811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314811","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004323","HPO_Synonym__c":"Abnormality of body weight","HPO_Name__c":"Abnormality of body weight","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of elevated levels of ketone bodies in the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001946","HPO_Synonym__c":"High levels of ketone bodies; Hyperketosis","HPO_Name__c":"Ketosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:314811","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":"ORPHA:314811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314811","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:314811","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:314811","HPO_Frequency__c":"Very frequent (80-99%)","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:314811","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"],"Account":["Pituitary deficiency"]},"synonyms":["ghdp"," ghrelin receptor deficiency"," short stature due to ghsr deficiency"]}