{"Name":"Short fifth metacarpals-insulin resistance syndrome","DiseaseID__c":"GARD:0018868","id":18868,"encodedName":"short-fifth-metacarpals-insulin-resistance-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Short fifth metacarpals-insulin resistance syndrome","Xref_IDs__c":"C4303621; MEDGEN:929290; MONDO:0019017; ORPHA:66518","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019017","Disease_Description__c":"A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome.","GARD_Name__c":"Short fifth metacarpals-insulin resistance syndrome","GARD_Synonym__c":"short fifth metacarpal insulin resistance syndrome","Curated_Disease_Description_Source__c":"ORPHA:66518","Curated_Disease_Description__c":"A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:66518","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019017","ORPHANET_ID__c":"ORPHA:66518","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de quintos metacarpianos cortos-resistencia a la insulina","Spanish_Description_Source__c":"ORPHA:66518","Spanish_Description__c":"Es una enfermedad de base genética poco frecuente caracterizada por la asociación de acortamiento uni- o bilateral del quinto metacarpiano (definida como un espacio de 2 mm o más entre el extremo distal del quinto hueso metacarpiano y una línea tangencial que conecta los extremos distales del tercer y cuarto metacarpianos), resistencia a la insulina y esferocitosis. La talla baja familiar no se ha descrito como parte del síndrome.","Spanish_Disease_Name__c":"síndrome de quintos metacarpianos cortos-resistencia a la insulina","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 disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis.","Curated_Disease_Description_Source__c":"ORPHA:66518","GARD_Synonym__c":"short fifth metacarpal insulin resistance syndrome","Name":"Short fifth metacarpals-insulin resistance syndrome","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":"Adolescent","Provided_By__c":"ORPHA:66518"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929290","Source__c":"C4303621","Xref__c":"MEDGEN:929290"},{"URL__c":"https://www.orpha.net/en/disease/detail/66518","Source__c":"C4303621; MONDO:0019017; ORPHA:66518","Xref__c":"ORPHA:66518"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303621","Source__c":"C4303621","Xref__c":"C4303621"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721069005","Source__c":"C4303621","Xref__c":"721069005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019017","Source__c":"GARD:0018868","Xref__c":"MONDO:0019017"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:66518","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of erythrocytes that are sphere-shaped.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004444","HPO_Name__c":"Spherocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66518","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66518","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced ability to pass air through the nasal cavity often leading to mouth breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001742","HPO_Synonym__c":"Blockage of nose; Nasal blockage; Nasal obstruction; Obstruction of nose; Stuffy nose","HPO_Name__c":"Nasal congestion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66518","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000842","HPO_Synonym__c":"Elevated insulin level","HPO_Name__c":"Hyperinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:66518","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short fifth metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010047","HPO_Synonym__c":"Fifth metacarpal hypoplasia; Hypoplastic 5th metacarpal; Short fifth metacarpal; Short fifth metacarpals; Shortened 5th long bone of hand","HPO_Name__c":"Short 5th metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66518","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["short fifth metacarpal insulin resistance syndrome"]}