Details of Disease

General Information of Disease (ID: DISXFPAW)

Disease Name Frontometaphyseal dysplasia
Synonyms FMD; frontometaphyseal dysplasia
Definition
Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.
Disease Hierarchy
DISAUHL1: Otopalatodigital syndrome spectrum disorder
DISXFPAW: Frontometaphyseal dysplasia
Disease Identifiers
MONDO ID
MONDO_0015942
MESH ID
C538064
UMLS CUI
C0265293
MedGen ID
82703
Orphanet ID
1826
SNOMED CT ID
62803002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FLNA TTSTRZY Supportive Autosomal dominant [1]
MAP3K7 TTJQT60 moderate Genetic Variation [2]
FLNA TTSTRZY Strong Genetic Variation [3]
MAP3K7 TTJQT60 Strong Autosomal dominant [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FLNA OTYZ9JXM Supportive Autosomal dominant [1]
TAB2 OTPZK76F moderate Genetic Variation [3]
MADD OTUFYVGG Strong Genetic Variation [4]
MAP3K7 OTUXEASC Strong Autosomal dominant [2]
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References

1 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. Am J Med Genet A. 2006 May 15;140(10):1069-73. doi: 10.1002/ajmg.a.31213.
2 Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. Am J Hum Genet. 2016 Aug 4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15.
3 A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.Eur J Hum Genet. 2018 Apr;26(4):582-586. doi: 10.1038/s41431-017-0079-x. Epub 2018 Feb 21.
4 Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A.J Biol Chem. 2017 May 19;292(20):8390-8400. doi: 10.1074/jbc.M117.776740. Epub 2017 Mar 27.