Details of Disease

General Information of Disease (ID: DIS2MB3L)

• Disease Name: Frontometaphyseal dysplasia 1
• Synonyms: FRONTOMETAPHYSEAL dysplasia 1; Fmd; FMD1; FLNA frontometaphyseal dysplasia; frontometaphyseal dysplasia caused by mutation in FLNA; frontometaphyseal dysplasia 1, X-linked recessive
• Definition: Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.
• Disease Hierarchy:
  DISXFPAW: Frontometaphyseal dysplasia
  DIS2MB3L: Frontometaphyseal dysplasia 1
• Disease Identifiers:
  MONDO ID: MONDO_0024550
  UMLS CUI: C4281559
  OMIM ID: 305620
  MedGen ID: 923943

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAP3K7	TTJQT60	moderate	Biomarker	[1]
FLNA	TTSTRZY	Strong	Genetic Variation	[2]
ITGB6	TTKQSXZ	Strong	Biomarker	[3]
MAP3K7	TTJQT60	Strong	Autosomal dominant	[4]
RTN4	TT7GXMU	Strong	Biomarker	[5]
SLC38A2	TTUSC27	Strong	Genetic Variation	[6]
TACR2	TTYO0A3	Strong	Biomarker	[7]
FLNA	TTSTRZY	Definitive	X-linked	[8]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SAT2	OT28QL7H	moderate	Genetic Variation	[6]
ANXA13	OTM33P73	Strong	Biomarker	[9]
DCTN3	OTQOSUES	Strong	Biomarker	[10]
MAP3K7	OTUXEASC	Strong	Autosomal dominant	[4]
PCNT	OTW4Z65J	Strong	Genetic Variation	[11]
RTN1	OTCX1SMK	Strong	Biomarker	[5]
SPECC1	OTPEML48	Strong	Biomarker	[5]
FLNA	OTYZ9JXM	Definitive	X-linked	[8]

References

• [1] 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.
• [2] Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report.Medicine (Baltimore). 2018 Jul;97(28):e11283. doi: 10.1097/MD.0000000000011283.
• [3] Inhibition of viral replication by small interfering RNA targeting of the foot-and-mouth disease virus receptor integrin 6.Exp Ther Med. 2017 Jul;14(1):735-742. doi: 10.3892/etm.2017.4560. Epub 2017 Jun 7.
• [4] 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.
• [5] Development and validation of a foot-and-mouth disease virus SAT serotype-specific 3ABC assay to differentiate infected from vaccinated animals.J Virol Methods. 2018 May;255:44-51. doi: 10.1016/j.jviromet.2018.02.006. Epub 2018 Feb 8.
• [6] Generation of monoclonal antibodies against foot-and-mouth disease virus SAT 2 and the development of a lateral flow strip test for virus detection.Transbound Emerg Dis. 2019 May;66(3):1158-1166. doi: 10.1111/tbed.13076. Epub 2018 Dec 10.
• [7] Improved foot-and-mouth disease vaccine with O PanAsia-2 strain protect pigs against O/Jincheon/SKR/2014 originated from South Korea.Vaccine. 2020 Jan 29;38(5):1120-1128. doi: 10.1016/j.vaccine.2019.11.029. Epub 2019 Dec 3.
• [8] Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12.
• [9] Early IgG Response to Foot and Mouth Disease Vaccine Formulated with a Vegetable Oil Adjuvant.Vaccines (Basel). 2019 Oct 9;7(4):143. doi: 10.3390/vaccines7040143.
• [10] Interaction of foot-and-mouth disease virus nonstructural protein 3A with host protein DCTN3 is important for viral virulence in cattle.J Virol. 2014 Mar;88(5):2737-47. doi: 10.1128/JVI.03059-13. Epub 2013 Dec 18.
• [11] Genetic and antigenic characterization of serotype O FMD viruses from East Africa for the selection of suitable vaccine strain.Vaccine. 2017 Dec 14;35(49 Pt B):6842-6849. doi: 10.1016/j.vaccine.2017.10.040.