Details of Disease | DrugMAP

General Information of Disease (ID: DISNBM5T)

Disease Name	Acrofacial dysostosis
Disease Hierarchy	DISYKSRF: Genetic disease DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DISNBM5T: Acrofacial dysostosis
Disease Identifiers	MONDO ID MONDO_0018237 UMLS CUI C1332140 MedGen ID 272278 Orphanet ID 364574

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DHODH	TTLVP78	Strong	Genetic Variation	[1]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EIF4A3	OTYYFE7K	moderate	Biomarker	[2]
SNRPB	OT3UJ4ZU	moderate	Biomarker	[2]
POLR1A	OTDWI0TG	Strong	Biomarker	[3]
SF3B4	OTGB9OR9	Strong	Genetic Variation	[4]
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References

1	Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.Mol Genet Metab. 2016 Sep;119(1-2):83-90. doi: 10.1016/j.ymgme.2016.06.008. Epub 2016 Jun 14.
2	A review of craniofacial disorders caused by spliceosomal defects.Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1.
3	Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26.
4	Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.PLoS Genet. 2016 Sep 13;12(9):e1006307. doi: 10.1371/journal.pgen.1006307. eCollection 2016 Sep.