Genopathy
Gene-Disorder Association · Article
Gene
MAP2K2
Mitogen-Activated Protein Kinase Kinase 2
Disorder
Tafro Syndrome
First reported 2013
Key publication · disorder Castleman-Kojima disease (TAFRO syndrome) : a novel systemic inflammatory disease characterized by a constellation of symptoms, namely, thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly : a status report and summary of Fukushima (6 June, 2012) and Nagoya meetings (22 September, 2012).Journal of clinical and experimental hematopathology : JCEH · 2013
Association Review

In brief

The association between MAP2K2 (Mitogen-Activated Protein Kinase Kinase 2) and Tafro Syndrome is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 26
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
MAP2K2

The gene

1 source summary

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

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04
Tafro Syndrome

The disorder

5 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

25 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

1 clinical variant

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

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07
Provenance

References & sources

5 references

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

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