Genopathy
Gene-Disorder Association · Article
Gene
MAP2K2
Mitogen-Activated Protein Kinase Kinase 2
Disorder
Cardiofaciocutaneous Syndrome
First reported 2007
Supporting publications 6
Key publication · gene–disorder Neurological complications of cardio-facio-cutaneous syndrome.Developmental medicine and child neurology · 2007
Key publication · disorder New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.American journal of medical genetics · 1986
Manually curated
Association Review

In brief

The association between MAP2K2 (Mitogen-Activated Protein Kinase Kinase 2) and Cardiofaciocutaneous Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 10
Symptoms 80
Compounds 0
Trials 0
Publications 6
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

3 sources

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

Request access
03
MAP2K2

The gene

1 source summary

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

Request access
04
Cardiofaciocutaneous Syndrome

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

79 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

10 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

1 shared pathway

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

Request access
08
Literature

Reading

6 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access