ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Hyperinsulinism
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Accession:DOID:9006828 term browser browse the term
Definition:A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).
Synonyms:exact_synonym: Familial Hyperinsulinism;   Hyperinsulinemia Hypoglycemia of Infancy;   Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia;   Hypoglycemia, Hyperinsulinemic, of Infancy;   Infancy Hyperinsulinemia Hypoglycemia;   Infancy Hyperinsulinemia Hypoglycemias;   Neonatal Hyperinsulinism;   Neonatal Hyperinsulinisms;   PHHI;   PHHI hypoglycemia;   PHHI hypoglycemias;   Persistent Hyperinsulinemia Hypoglycemia of Infancy;   Persistent Hyperinsulinemic Hypoglycemia;   familial hyperinsulinisms;   persistent hyperinsulinemic hypoglycemia of infancy;   persistent hyperinsulinemic hypoglycemias
 narrow_synonym: KCNT2-RELATED CONDITION
 primary_id: MESH:D044903
 alt_id: RDO:0007511
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Congenital Hyperinsulinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:704365
RGD:8554872
RGD:12790723
RGD:11069847
RGD:12790596
RGD:11067821
RGD:12790587
RGD:11070657
RGD:12743628
RGD:11554173
G Gck glucokinase JBrowse link 14 86,149,146 86,191,589 RGD:11554173
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:1302513
G Hadh hydroxyacyl-CoA dehydrogenase JBrowse link 2 236,353,445 236,395,067 RGD:2306664
G Hnf4a hepatocyte nuclear factor 4, alpha JBrowse link 3 159,902,441 159,965,003 RGD:12904701
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:11554173
RGD:8554872
RGD:12790723
RGD:11069847
RGD:12790587
RGD:12743643
RGD:12743624
G Kcnt2 potassium sodium-activated channel subfamily T member 2 JBrowse link 13 57,130,855 57,520,263 RGD:8554872
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 15 85,927,978 86,105,829 RGD:7248544
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:7240710
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:8554872
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:8554872
RGD:7240710
familial hyperinsulinemic hypoglycemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gck glucokinase JBrowse link 14 86,149,146 86,191,589 RGD:7240710
RGD:8554872
familial hyperinsulinemic hypoglycemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hadh hydroxyacyl-CoA dehydrogenase JBrowse link 2 236,353,445 236,395,067 RGD:8554872
RGD:7240710
familial hyperinsulinemic hypoglycemia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:7240710
RGD:8554872
familial hyperinsulinemic hypoglycemia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:7240710
RGD:8554872
G Shld2 shieldin complex subunit 2 JBrowse link 16 10,570,307 10,661,528 RGD:8554872
familial hyperinsulinemic hypoglycemia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a1 solute carrier family 16 member 1 JBrowse link 2 207,108,552 207,129,352 RGD:7240710
RGD:8554872
hyperinsulinemic hypoglycemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:13592920
RGD:8554872
G Gck glucokinase JBrowse link 14 86,149,146 86,191,589 RGD:13592920
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:8554872

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      hyperinsulinism 549
        Congenital Hyperinsulinism 11
          hyperinsulinemic hypoglycemia + 8
Path 2
Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        acquired metabolic disease 2671
          carbohydrate metabolism disease 1739
            glucose metabolism disease 1739
              hyperinsulinism 549
                Congenital Hyperinsulinism 11
                  hyperinsulinemic hypoglycemia + 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.