{"Name":"Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome","DiseaseID__c":"GARD:0021818","id":21818,"encodedName":"intrauterine-growth-restriction-short-stature-early-adult-onset-diabetes-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome","Xref_IDs__c":"C5681180; MEDGEN:1801791; MONDO:0018573; ORPHA:436144","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:436144","Disease_Description__c":"A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.","GARD_Name__c":"Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome","GARD_Synonym__c":"intrauterine growth restriction, short stature, early adult-onset diabetes syndrome","Curated_Disease_Description_Source__c":"ORPHA:436144","Curated_Disease_Description__c":"A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:436144","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018573","ORPHANET_ID__c":"ORPHA:436144","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de restricción del crecimiento intrauterino-talla baja-diabetes de inicio precoz en el adulto","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de restricción del crecimiento intrauterino-talla baja-diabetes de inicio precoz en el adulto","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 genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.","Curated_Disease_Description_Source__c":"ORPHA:436144","GARD_Synonym__c":"intrauterine growth restriction, short stature, early adult-onset diabetes syndrome","Name":"Intrauterine growth restriction-short stature-early adult-onset diabetes syndrom","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:436144"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:436144"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK190103","Source__c":"Gene Review","Xref__c":"NBK190103"},{"URL__c":"https://www.orpha.net/en/disease/detail/436144","Source__c":"C5681180; MONDO:0018573; ORPHA:436144","Xref__c":"ORPHA:436144"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1801791","Source__c":"C5681180","Xref__c":"MEDGEN:1801791"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681180","Source__c":"C5681180","Xref__c":"C5681180"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018573","Source__c":"GARD:0021818","Xref__c":"MONDO:0018573"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197592001","Source__c":"C5681180","Xref__c":"1197592001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CDKN1C","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdkn1c","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:436144","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436144","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:436144","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["intrauterine growth restriction, short stature, early adult-onset diabetes syndrome"]}