Genopathy
Gene-Disorder Association · Article
Gene
ABCC8
ATP Binding Cassette Subfamily C Member 8
Disorder
Permanent Neonatal Diabetes Mellitus
First reported 2007
Supporting publications 9
Key publication · gene–disorder A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).Diabetes · 2007
Key publication · disorder Permanent neonatal diabetes mellitus: a case report with plasma insulin studies.Zeitschrift fur Kinderheilkunde · 1975
Manually curated
Association Review

In brief

The association between ABCC8 (ATP Binding Cassette Subfamily C Member 8) and Permanent Neonatal Diabetes Mellitus is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 146
Symptoms 40
Compounds 0
Trials 0
Publications 9
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

3 sources

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

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03
ABCC8

The gene

1 source summary

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

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04
Permanent Neonatal Diabetes Mellitus

The disorder

7 database identifiers

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

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05
Phenotype

Clinical features

35 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

146 clinical variants

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

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07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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08
Mechanism overlap

Shared mechanisms

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

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09
Literature

Reading

9 publications

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

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10
Provenance

References & sources

16 references

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

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