eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital hyperinsulinism | ||||
| Disease ID | 365 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C3888018 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0020598 | hypoglycaemia | 4 C0020598 | hypoglycemia | 3 C0015624 | fanconi syndrome | 1 C0007194 | hypertrophic cardiomyopathy | 1 C0268155 | galactokinase deficiency | 1 C0027819 | neuroblastoma | 1 C0878544 | cardiomyopathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 365 |
|---|---|
| Disease | congenital hyperinsulinism |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0001943 | Hypoglycemia | 7 HP:0001714 | Ventricular hypertrophy | 2 HP:0100842 | Septo-optic dysplasia | 1 HP:0003006 | Neuroblastoma | 1 HP:0001520 | Birthweight > 90th percentile | 1 HP:0001638 | Cardiomyopathy | 1 HP:0000825 | Hyperinsulinaemic hypoglycaemia | 1 HP:0001639 | Hypertrophic cardiomyopathy | 1 HP:0001712 | Left ventricular hypertrophy | 1 HP:0006742 | Congenital neuroblastoma | 1 |
| Disease ID | 365 |
|---|---|
| Disease | congenital hyperinsulinism |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 365 |
|---|---|
| Disease | congenital hyperinsulinism |
| Case | (Waiting for update.) |