Details of Disease

General Information of Disease (ID: DISZN4TR)

Disease Name Frontometaphyseal dysplasia 2
Synonyms
MAP3K7 frontometaphyseal dysplasia; frontometaphyseal dysplasia caused by mutation in MAP3K7; Frontometaphyseal dysplasia type 2; FMD2; Frontometaphyseal dysplasia 2; frontometaphyseal dysplasia 2; FMD2
Definition Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.
Disease Hierarchy
DISXFPAW: Frontometaphyseal dysplasia
DISZN4TR: Frontometaphyseal dysplasia 2
Disease Identifiers
MONDO ID
MONDO_0014935
UMLS CUI
C4310697
OMIM ID
617137
MedGen ID
934664

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MAP3K7 TTJQT60 Strong Autosomal dominant [1]
MAP3K7 TTJQT60 Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MAP3K7 OTUXEASC Strong Autosomal dominant [1]
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References

1 Heterozygous Mutations in MAP3K7, Encoding TGF--Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome. Am J Hum Genet. 2016 Aug 4;99(2):407-13. doi: 10.1016/j.ajhg.2016.06.005. Epub 2016 Jul 14.
2 Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.Mol Cell Probes. 2019 Jun;45:84-88. doi: 10.1016/j.mcp.2019.03.006. Epub 2019 Mar 23.