Genopathy
Gene-Disorder Association · Article
Gene
MAP2K1
Mitogen-Activated Protein Kinase Kinase 1
Disorder
Cardiofaciocutaneous Syndrome 1
First reported 2006
Supporting publications 34
Key publication · gene–disorder Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.Science (New York, N.Y.) · 2006
Key publication · disorder Ulerythema ophryogenes with mental retardation.Proceedings of the Royal Society of Medicine · 1973
Manually curated
Association Review

In brief

The association between MAP2K1 (Mitogen-Activated Protein Kinase Kinase 1) and Cardiofaciocutaneous Syndrome 1 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 17
Symptoms 133
Compounds 0
Trials 0
Publications 34
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

2 sources

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

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03
MAP2K1

The gene

2 source summaries

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

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04
Cardiofaciocutaneous Syndrome 1

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

117 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

17 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

34 publications

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

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09
Provenance

References & sources

14 references

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

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