PedAM

Pediatric Disease Annotations & Medicines


	congenital hyperinsulinism

Disease ID	145
Disease	congenital hyperinsulinism
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).
Synonym	congenital hyperinsulinism [disease/finding] congenital hyperinsulinisms familial hyperinsulinism familial hyperinsulinisms hyperinsulinaemia due to nesidioblastosis (disorder) hyperinsulinemia hypoglycemia of infancy hyperinsulinemic hypoglycemia, persistent hyperinsulinemic hypoglycemias, persistent hyperinsulinism, congenital hyperinsulinism, familial hyperinsulinism, neonatal hyperinsulinisms, congenital hyperinsulinisms, familial hyperinsulinisms, neonatal hypoglycemia, hyperinsulinemic, of infancy hypoglycemia, persistent hyperinsulinemic hypoglycemia, phhi hypoglycemias, persistent hyperinsulinemic hypoglycemias, phhi infancy hyperinsulinemia hypoglycemia infancy hyperinsulinemia hypoglycemias neonatal hyperinsulinism neonatal hyperinsulinisms persistent hyperinsulinaemic hypoglycaemia of infancy persistent hyperinsulinaemic hypoglycemia of infancy persistent hyperinsulinemia hypoglycemia of infancy persistent hyperinsulinemic hypoglycemia persistent hyperinsulinemic hypoglycemia of infancy persistent hyperinsulinemic hypoglycemia of infancy (disorder) persistent hyperinsulinemic hypoglycemias phhi - persistent hyperinsulinaemic hypoglycaemia of infancy phhi - persistent hyperinsulinaemic hypoglycemia of infancy phhi - persistent hyperinsulinemic hypoglycemia of infancy phhi - persistent hyperinsulinemic hypoglycemia of infancy (disorder) phhi hypoglycemia phhi hypoglycemias
Orphanet	ORPHANET:276525
OMIM	OMIM:601820 OMIM:256450
DOID	DOID:13317
UMLS	C3888018
MeSH	D044903
SNOMED-CT	SNOMEDCT_US_2016_09_01:360339005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0020598 \| hypoglycemia \| 4 C0020598 \| hypoglycaemia \| 4 C0268155 \| galactokinase deficiency \| 1 C0007194 \| hypertrophic cardiomyopathy \| 1 C0878544 \| cardiomyopathy \| 1 C0015624 \| fanconi syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) GCK \| 2645 \| CTD_human ABCC8 \| 6833 \| CTD_human KCNJ11 \| 3767 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 6833 \| ABCC8 \| infer 2645 \| GCK \| infer 3767 \| KCNJ11 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	145
Disease	congenital hyperinsulinism
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0001943 \| Hypoglycemia \| 8 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0001639 \| Hypertrophic cardiomyopathy \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0100842 \| Septo-optic dysplasia \| 1 HP:0000825 \| Hyperinsulinaemic hypoglycaemia \| 1

Disease ID	145
Disease	congenital hyperinsulinism
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0340425 \| hypertrophic cardiomyopathy C0020615 \| hypoglycemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0020598 \| hypoglycemia \| 4 C0007194 \| hypertrophic cardiomyopathy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001639	Hypertrophic cardiomyopathy	MP:0005330	cardiomyopathy;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001639	Hypertrophic cardiomyopathy	MP:0000010	abnormal abdominal fat pad morphology;HP:0001943	Hypoglycemia

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C3888018	octreotide	D015282	83150-76-9	congenital hyperinsulinism	MESH:D044903	therapeutic	10923237

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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