Details of Disease

General Information of Disease (ID: DISFA7AJ)

Disease Name Situs inversus
Synonyms
situs ambiguus; situs inversus; complete transposition (morphologic abnormality); laterality sequence; situs inversus totalis; situs inversus totalis (disease); complete situs inversus; complete situs inversus viscerum
Definition
A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).
Disease Hierarchy
DIS1DV90: Visceral heterotaxy
DISFA7AJ: Situs inversus
Disease Identifiers
MONDO ID
MONDO_0010029
UMLS CUI
C4551493
MedGen ID
1642262
HPO ID
HP:0001696
Orphanet ID
101063

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
MMP21 TTYRF5E Supportive Autosomal dominant [1]
NODAL TTK2O1Q Definitive Autosomal dominant [2]
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This Disease Is Related to 10 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANKS3 OTFXNRZD Supportive Autosomal dominant [3]
CFAP52 OTSSXF56 Supportive Autosomal dominant [4]
CFAP53 OTI76XGK Supportive Autosomal dominant [5]
DNAH9 OTI2QIZQ Supportive Autosomal dominant [6]
MMP21 OTVDCE2H Supportive Autosomal dominant [1]
NME7 OTYMBK3Q Supportive Autosomal dominant [7]
PKD1L1 OTLAARJ1 Supportive Autosomal dominant [8]
DNAH11 OT6IYFVV moderate Genetic Variation [9]
DNAH5 OTC21RUS Strong Genetic Variation [10]
NODAL OTZ34981 Definitive Autosomal dominant [2]
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⏷ Show the Full List of 10 DOT(s)

References

1 A human laterality disorder caused by a homozygous deleterious mutation in MMP21. J Med Genet. 2015 Dec;52(12):840-7. doi: 10.1136/jmedgenet-2015-103336. Epub 2015 Oct 1.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3 ANKS3 is mutated in a family with autosomal recessive laterality defect. Hum Genet. 2016 Nov;135(11):1233-1239. doi: 10.1007/s00439-016-1712-4. Epub 2016 Jul 14.
4 A human laterality disorder associated with a homozygous WDR16 deletion. Eur J Hum Genet. 2015 Sep;23(9):1262-5. doi: 10.1038/ejhg.2014.265. Epub 2014 Dec 3.
5 A human laterality disorder associated with recessive CCDC11 mutation. J Med Genet. 2012 Jun;49(6):386-90. doi: 10.1136/jmedgenet-2011-100457. Epub 2012 May 10.
6 Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. Am J Hum Genet. 2018 Dec 6;103(6):995-1008. doi: 10.1016/j.ajhg.2018.10.020. Epub 2018 Nov 21.
7 A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis. Hum Mutat. 2016 Aug;37(8):727-31. doi: 10.1002/humu.22998. Epub 2016 May 9.
8 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 6;99(4):886-893. doi: 10.1016/j.ajhg.2016.07.011. Epub 2016 Sep 8.
9 Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-6. doi: 10.1073/pnas.152337699. Epub 2002 Jul 25.
10 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3.