Genopathy
Gene-Disorder Association · Article
Gene
HEPACAM
Hepatic And Glial Cell Adhesion Molecule
Disorder
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a
First reported 2014
Supporting publications 14
Key publication · gene–disorder Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.Human mutation · 2014
Key publication · disorder The cardiac myosin light chain (MLC-2A) gene in chicken is methylated in both expressing and nonexpressing tissues.Cell biology and toxicology · 1984
Manually curated
Association Review

In brief

The association between HEPACAM (Hepatic And Glial Cell Adhesion Molecule) and Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 26
Symptoms 32
Compounds 0
Trials 0
Publications 14
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

4 sources

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

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03
HEPACAM

The gene

1 source summary

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

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04
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a

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

19 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

26 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

14 publications

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

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09
Provenance

References & sources

15 references

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

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