Genopathy
Gene-Disorder Association · Article
Gene
ABCC8
ATP Binding Cassette Subfamily C Member 8
Disorder
Hyperinsulinemic Hypoglycemia, Familial, 1
First reported 1995
Supporting publications 186
Key publication · gene–disorder Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.Science (New York, N.Y.) · 1995
Key publication · disorder Beta cell nesidioblastosis in idiopathic hypoglycemia of infancy.The Journal of pediatrics · 1971
Manually curated
Association Review

In brief

The association between ABCC8 (ATP Binding Cassette Subfamily C Member 8) and Hyperinsulinemic Hypoglycemia, Familial, 1 is well established and manually curated, with its 5 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 5
Clinical variants 757
Symptoms 15
Compounds 0
Trials 0
Publications 186
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

5 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
ABCC8

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Hyperinsulinemic Hypoglycemia, Familial, 1

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

6 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

757 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Genomic context

Regulatory context

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

Request access
08
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
09
Literature

Reading

186 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
10
Provenance

References & sources

17 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access