Details of Disease

General Information of Disease (ID: DIS2SZ2Q)

Disease Name Right atrial isomerism
Synonyms
bilateral right-sidedness sequence; heterotaxy, Visceroatrial, autosomal recessive; polysplenia syndrome; Vah, autosomal recessive; Polyasplenia; asplenia syndrome; splenic agenesis syndrome; right isomerism; RAI; right atrial isomerism (disease); Ivemark syndrome; Ivemark Syndrome; right atrial isomerism (ivemark); asplenia with cardiovascular anomalies; right atrial isomerism
Definition
A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.
Disease Hierarchy
DIS1DV90: Visceral heterotaxy
DIS2SZ2Q: Right atrial isomerism
Disease Identifiers
MONDO ID
MONDO_0008832
MESH ID
D059446
UMLS CUI
C3178806
OMIM ID
208530
MedGen ID
465274
HPO ID
HP:0011536
Orphanet ID
97548

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MMP21 TTYRF5E moderate Biomarker [1]
ACVR2B TTLFRKS Strong Biomarker [2]
TDGF1 TTN7HMG Strong Biomarker [3]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SHC3 OT305NPA Disputed Altered Expression [4]
LEFTY2 OT3RX4QF moderate Biomarker [5]
CFC1 OT5DHGI8 Strong Biomarker [6]
CFC1B OTB9ERQV Strong Biomarker [6]
GDF1 OTZ1VRBH Strong Autosomal recessive [7]
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References

1 MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5.
2 Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.Am J Med Genet. 1999 Jan 1;82(1):70-6. doi: 10.1002/(sici)1096-8628(19990101)82:1<70::aid-ajmg14>3.0.co;2-y.
3 Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet. 2000 Nov;26(3):365-9. doi: 10.1038/81695.
4 The Shc protein RAI promotes an adaptive cell survival program in hypoxic neuroblastoma cells.J Cell Physiol. 2018 May;233(5):4282-4293. doi: 10.1002/jcp.26247. Epub 2017 Nov 24.
5 Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.Am J Hum Genet. 1999 Mar;64(3):712-21. doi: 10.1086/302289.
6 A role of the cryptic gene in the correct establishment of the left-right axis.Curr Biol. 1999 Nov 18;9(22):1339-42. doi: 10.1016/s0960-9822(00)80059-7.
7 Regulation of left-right patterning in mice by growth/differentiation factor-1. Nat Genet. 2000 Mar;24(3):262-5. doi: 10.1038/73472.