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Term:
Congenital Hyperinsulinism (DOID:9006828)
Annotations: Rat: (11) Mouse: (11) Human: (11) Chinchilla: (11) Bonobo: (11) Dog: (11) Squirrel: (11) Pig: (11)
Parent Terms Term With Siblings Child Terms
hyperinsulinism +     
hypoglycemia +     
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
adrenocorticotropic hormone deficiency  
Amniotic Band Syndrome +  
asphyxia neonatorum +   
benign neonatal seizures +   
Birth Injuries +   
Caffey disease +   
carnitine palmitoyltransferase I deficiency  
Carnitine Palmitoyltransferase II Deficiency, Infantile  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Colic 
Congenital Hyperinsulinism +   
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).
congenital nystagmus +   
congenital syphilis +  
congenital toxoplasmosis 
Cutis Laxa-Marfanoid Syndrome 
cystic fibrosis +   
fetal erythroblastosis +   
Hirata disease 
Homozygous 11p15-p14 Deletion Syndrome 
hydrophthalmos +   
Hyperglycinemia, Transient Neonatal 
Hyperparathyroidism, Neonatal Severe Primary  
Hypoglycemia, Leucine-Induced  
Hypoinsulinemic Hypoglycemia with Hemihypertrophy  
ichthyosis +   
Infantile Hypercalcemia +   
Insulin Coma 
Insulin Resistance +   
meconium aspiration syndrome  
Meconium Ileus  
Mobius syndrome +   
neonatal abstinence syndrome 
Neonatal Alloimmune Thrombocytopenia  
neonatal anemia +   
neonatal diabetes mellitus +   
Neonatal Hyperbilirubinemia +   
Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 
Neonatal Inflammatory Skin and Bowel Disease +   
Neonatal Pulmonary Hypertension  
Neonatal Sepsis  
ophthalmia neonatorum 
persistent fetal circulation syndrome  
Posttransfusion Purpura  
Premature Infant Diseases +   
Rothmund-Thomson syndrome +   
Sclerema Neonatorum 
severe combined immunodeficiency +   
thanatophoric dysplasia +   
transient neonatal thrombocytopenia 
umbilical hernia +   
vitamin K deficiency bleeding  
Wolman disease +   

Synonyms
Exact Synonyms: Familial Hyperinsulinism ;   Neonatal Hyperinsulinism ;   Neonatal Hyperinsulinisms ;   familial hyperinsulinisms
Narrow Synonyms: KCNT2-RELATED CONDITION
Primary IDs: MESH:D044903
Alternate IDs: RDO:0007511
Xrefs: NCI:C131425
Definition Sources: MESH:D044903

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.