Details of Disease

General Information of Disease (ID: DISGIYXQ)

Disease Name Apert syndrome
Synonyms
ACS 2; syndactylic oxycephaly; acrocephalosyndactyly, type 2; Vogt Cephalodactyly; Apert-Crouzon disease; acrocephalo-syndactyly type 1; acrocephalosyndactyly, type 1; ACS 1; type I Acrocephalosyndactyly; Apert syndrome; ACS1; acrocephalosyndactyly type I; acrocephalosyndactyly type 1
Definition
Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.
Disease Hierarchy
DISFIB1L: Acrocephalosyndactyly
DISGIYXQ: Apert syndrome
Disease Identifiers
MONDO ID
MONDO_0007041
MESH ID
D000168
UMLS CUI
C0001193
OMIM ID
101200
MedGen ID
7858
Orphanet ID
87
SNOMED CT ID
205258009

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
FGF10 TTNPEFX Limited Biomarker [1]
ERF TTGXULC Strong Genetic Variation [2]
TWIST1 TTX1MY7 Strong Biomarker [3]
FGFR2 TTGJVQM Definitive Autosomal dominant [4]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RAB18 OTNMAQLS moderate Biomarker [5]
TBC1D20 OTDL1T6E Strong Biomarker [6]
FGFR2 OTLOPACK Definitive Autosomal dominant [4]
------------------------------------------------------------------------------------

References

1 Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome.Stem Cells Dev. 2016 Aug 15;25(16):1249-60. doi: 10.1089/scd.2016.0018. Epub 2016 Jun 23.
2 Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):250-9. doi: 10.1002/bdra.23228. Epub 2014 Feb 27.
3 Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27.
4 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5 ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18.Exp Neurol. 2015 May;267:143-51. doi: 10.1016/j.expneurol.2015.03.003. Epub 2015 Mar 13.
6 Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.