RAI
MCID: RGH009
MIFTS: 54

Right Atrial Isomerism (RAI)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Right Atrial Isomerism

MalaCards integrated aliases for Right Atrial Isomerism:

Name: Right Atrial Isomerism 57 12 75 15 73
Ivemark Syndrome 57 12 76 53 59 75
Asplenia with Cardiovascular Anomalies 57 12 53 75
Bilateral Right-Sidedness Sequence 53 29 6
Asplenia Syndrome 53 73
Asplenia 29 6
Rai 57 75
Heterotaxy, Visceroatrial, Autosomal Recessive 75
Congenital Absence of Spleen 73
Splenic Agenesis Syndrome 53
Vah, Autosomal Recessive 75
Atrial Isomerism, Right 40
Right Isomerism 57
Polyasplenia 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
cardiac failure at birth
poor outcome
one family with confirmed genetic basis has been reported (last curated september 2013)


HPO:

32
right atrial isomerism:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Right Atrial Isomerism

OMIM : 57 Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually 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. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010). (208530)

MalaCards based summary : Right Atrial Isomerism, also known as ivemark syndrome, is related to visceral heterotaxy and duane-radial ray syndrome. An important gene associated with Right Atrial Isomerism is GDF1 (Growth Differentiation Factor 1), and among its related pathways/superpathways is Signaling by NODAL. Affiliated tissues include lung, heart and liver, and related phenotypes are agenesis of corpus callosum and atrial septal defect

Disease Ontology : 12 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.

NIH Rare Diseases : 53 Ivemark syndromeis a rare congenital condition that affects multiple organ systems of the body. Ivemark syndrome is classified as a heterotaxy disorder or a laterality disorder. These terms refer to the failure of the internal organs of the chest and abdomen to be arranged in the proper location within the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, heart malformations, and the abnormal arrangement of the internal organs of the chest and abdomen. Symptoms vary greatly depending on the specific abnormalities present; however if heart malformations are complex, the prognosis is often poor. The exact cause of Ivemark syndrome is not known. Most cases are sporadic (isolated and seemingly random). Unlike some other heterotaxy disorders, causative genemutations have not been identified. There is no cure for Ivemark syndrome. Treatment might include surgical repair of heart malformations when appropriate and prophylacticantibiotic therapy to reduce the incidence of infection due to the absence or poor function of the spleen.

UniProtKB/Swiss-Prot : 75 Right atrial isomerism: A severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually 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. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs.

Wikipedia : 76 Asplenia with cardiovascular anomalies, also known as Ivemark syndrome and right atrial isomerism, is an... more...

Related Diseases for Right Atrial Isomerism

Diseases related to Right Atrial Isomerism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1046)
# Related Disease Score Top Affiliating Genes
1 visceral heterotaxy 28.6 DNAH5 DNAH7 GDF1 LEFTY2 NPHP3
2 duane-radial ray syndrome 12.6
3 radial ray hypoplasia with choanal atresia 12.3
4 humerofemoral hypoplasia with radiotibial ray deficiency 12.3
5 radial ray deficiency, x-linked 12.2
6 omphalocele, diaphragmatic hernia, and radial ray defects 12.2
7 weyers ulnar ray/oligodactyly syndrome 12.2
8 ulnar/fibular ray defect and brachydactyly 12.2
9 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male 12.1
10 stormorken syndrome 12.0
11 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia 12.0
12 overgrowth radial ray defect arthrogryposis 12.0
13 polydactyly syndrome middle ray duplication 12.0
14 radial ray agenesis 12.0
15 ivic syndrome 11.9
16 asplenia, isolated congenital 11.5
17 heinz body anemias 11.4
18 heterotaxy, visceral, 1, x-linked 11.4
19 heme oxygenase 1 deficiency 11.3
20 heterotaxy 11.3
21 ataxia-telangiectasia 11.2
22 xeroderma pigmentosum, variant type 11.2
23 nephrocalcinosis 11.2
24 juvenile rheumatoid arthritis 11.2
25 granulomatosis with polyangiitis 11.1
26 radiation sensitivity of natural killer activity 11.1
27 pelvic hypoplasia with lower-limb arthrogryposis 11.1
28 lymphoma 11.1
29 astigmatism 11.1
30 osteoarthritis 11.1
31 bursitis 11.1
32 atrioventricular septal defect 11.1
33 atrioventricular septal defect 4 11.1
34 atrioventricular septal defect 5 11.1
35 bladder disease 11.1
36 osteopetrosis 11.1
37 split hand-foot malformation 11.1
38 legionnaires' disease 11.1
39 pertussis 11.1
40 acute chest syndrome 11.1
41 pulmonary coin lesion 11.1
42 osteogenesis imperfecta, type ii 11.0
43 ulnar-mammary syndrome 11.0
44 baller-gerold syndrome 11.0
45 mycobacterium tuberculosis 1 11.0
46 aspergillosis 11.0
47 amelogenesis imperfecta 11.0
48 dyspepsia 11.0
49 melorheostosis 11.0
50 perinatal necrotizing enterocolitis 11.0

Graphical network of the top 20 diseases related to Right Atrial Isomerism:



Diseases related to Right Atrial Isomerism

Symptoms & Phenotypes for Right Atrial Isomerism

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
asplenia

Respiratory Lung:
trilobulated lungs bilaterally (2 morphologic right lungs)

Abdomen Liver:
midline liver

Cardiovascular Heart:
dextrocardia
anomalous pulmonary venous return
common atrium
pulmonary stenosis
pulmonary atresia
more
Abdomen:
situs inversus
situs ambiguous


Clinical features from OMIM:

208530

Human phenotypes related to Right Atrial Isomerism:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 atrial septal defect 32 HP:0001631
3 ventricular septal defect 32 HP:0001629
4 pulmonic stenosis 32 HP:0001642
5 situs inversus totalis 32 HP:0001696
6 asplenia 32 HP:0001746
7 abnormal lung lobation 32 HP:0002101
8 polysplenia 32 HP:0001748
9 anomalous pulmonary venous return 32 HP:0010772
10 pulmonary artery atresia 32 HP:0004935
11 common atrium 32 HP:0011565
12 right atrial isomerism 32 HP:0011536
13 single ventricle 32 HP:0001750
14 complete atrioventricular canal defect 32 HP:0001674

MGI Mouse Phenotypes related to Right Atrial Isomerism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 BMP10 DNAH5 GDF1 GUCY2C LEFTY2 NPHP3
2 growth/size/body region MP:0005378 9.73 BMP10 DNAH5 GDF1 GUCY2C LEFTY2 NPHP3
3 immune system MP:0005387 9.63 BMP10 DNAH5 GDF1 GUCY2C LEFTY2 NPHP3
4 liver/biliary system MP:0005370 9.26 DNAH5 GDF1 GUCY2C LEFTY2
5 renal/urinary system MP:0005367 8.92 BMP10 DNAH5 GDF1 NPHP3

Drugs & Therapeutics for Right Atrial Isomerism

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079

Search NIH Clinical Center for Right Atrial Isomerism

Genetic Tests for Right Atrial Isomerism

Genetic tests related to Right Atrial Isomerism:

# Genetic test Affiliating Genes
1 Bilateral Right-Sidedness Sequence 29 GDF1
2 Asplenia 29

Anatomical Context for Right Atrial Isomerism

MalaCards organs/tissues related to Right Atrial Isomerism:

41
Lung, Heart, Liver, Spleen, Kidney, Skin, Bone

Publications for Right Atrial Isomerism

Articles related to Right Atrial Isomerism:

(show top 50) (show all 71)
# Title Authors Year
1
Primary Draining Vein Stenting for Obstructive Total Anomalous Pulmonary Venous Connection in Neonates with Right Atrial Isomerism and Functional Single Ventricle Improves Outcome. ( 29777280 )
2018
2
Long-term outcome of patients with right atrial isomerism after common atrioventricular valve plasty. ( 28329375 )
2017
3
Ivemark syndrome: bronchial compression from anomalous pulmonary venous anatomy. ( 28458851 )
2017
4
A successful staged Fontan operation for a right atrial isomerism neonate having major aortopulmonary collateral arteries and extracardiac total anomalous pulmonary venous connection. ( 27628651 )
2016
5
Right atrial isomerism in children older than 3A years. ( 27606160 )
2016
6
Functionally Univentricular Heart With Right Atrial Isomerism and Mixed Total Anomalous Pulmonary Venous Drainage. ( 26701620 )
2016
7
Ivemark Syndrome. ( 27735157 )
2016
8
Ivemark syndrome-a rare entity with specific anatomical features. ( 26005826 )
2015
9
Case images: Combination of the aortic interruption in a patient with right atrial isomerism: a previously unreported association. ( 25362954 )
2014
10
Hepatitis C-related mixed type vitiligo in a patient with Ivemark syndrome. ( 24433294 )
2014
11
The outcome of patients with right atrial isomerism is poor. ( 22886362 )
2013
12
Acute pulmonary embolism revealing Ivemark syndrome in an adult. ( 23375428 )
2013
13
Improving outcomes of the surgical management of right atrial isomerism. ( 22112795 )
2012
14
Delayed repair of right atrial isomerism with obstructed total anomalous pulmonary venous drainage by hybrid stent insertion between the left-sided atrium and pulmonary venous confluence. ( 22381351 )
2012
15
Cardiovascular MR imaging findings of total anomalous pulmonary venous connection to the portal vein in a patient with right atrial isomerism. ( 23238601 )
2012
16
Rargb regulates organ laterality in a zebrafish model of right atrial isomerism. ( 22982668 )
2012
17
Intestinal microvascular malformations and congenital asplenia in an adolescent possibly expanding the phenotype of Ivemark syndrome. ( 21946075 )
2011
18
Interventricular dyssynchrony due to unilateral atrioventricular conduction block in a patient with right atrial isomerism and twin atrioventricular nodes. ( 21315845 )
2011
19
Biventricular repair of right atrial isomerism with complex congenital anomalies. ( 20844638 )
2010
20
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). ( 20413652 )
2010
21
Biventricular repair of right atrial isomerism with complex congenital anomalies. ( 20401294 )
2010
22
Sutureless pericardial repair of total anomalous pulmonary venous connection in patients with right atrial isomerism. ( 20179133 )
2010
23
Early-onset basal cell carcinoma in a case of Ivemark syndrome. ( 20959271 )
2010
24
Primary palliative stenting against obstructive mixed-type total anomalous pulmonary venous connection associated with right atrial isomerism. ( 19689662 )
2009
25
Horseshoe adrenal gland in right atrial isomerism and asplenia. ( 18301886 )
2008
26
Pancreatic aplasia in a fetus with asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome). ( 18496831 )
2008
27
Hybrid palliation for right atrial isomerism associated with obstructive total anomalous pulmonary venous drainage. ( 18202026 )
2008
28
Right atrial isomerism: preponderance in Asian fetuses. Using the stomach-distance ratio as a possible diagnostic tool for prediction of right atrial isomerism. ( 19082194 )
2008
29
Right atrial isomerism with infracardiac total anomalous pulmonary venous connection complicated by hiatal hernia. ( 18502141 )
2008
30
Pregnancy and delivery of a patient with Ivemark syndrome (with polysplenia). ( 17555862 )
2008
31
Contemporary management of right atrial isomerism: effect of evolving therapeutic strategies. ( 16678597 )
2006
32
Ivemark syndrome in association with congenital septum transversum defect and pancreatic divisum. ( 16763342 )
2006
33
Biventricular repair for right atrial isomerism. ( 16631677 )
2006
34
Right atrial isomerism in four siblings. ( 14648004 )
2004
35
Prenatal diagnosis of total anomalous pulmonary venous connection to the portal vein associated with right atrial isomerism. ( 12704751 )
2003
36
Cardiac rhythm and symptomatic arrhythmia in right atrial isomerism. ( 12094203 )
2002
37
Streptococcus bovis meningitis in a neonate with Ivemark syndrome. ( 11874168 )
2002
38
Ivemark syndrome with agenesis of the corpus callosum: a case report with a review of the literature. ( 12424766 )
2002
39
Outcome of infants with right atrial isomerism: is prognosis better with normal pulmonary venous drainage? ( 11796553 )
2002
40
Right atrial isomerism. ( 11919113 )
2002
41
In utero diagnosis of obstructed supracardiac total anomalous pulmonary venous connection in a patient with right atrial isomerism and asplenia. ( 11309182 )
2001
42
Mutation analysis of human LEFTY A and LEFTY B genes in children with Ivemark syndrome. ( 11100524 )
2000
43
Does Ser364Pro mutation of connexin 43 exist in Taiwanese patients with Ivemark syndrome? ( 11037645 )
2000
44
Ivemark syndrome: asplenia with kidney collecting duct cysts and polysplenia with cerebellar cyst. ( 11105625 )
2000
45
Spontaneous biliary perforation in a child with features of Ivemark syndrome. ( 10663854 )
2000
46
Infradiaphragmatic totally anomalous pulmonary venous return with two separate descending veins in association with right atrial isomerism. ( 11081910 )
2000
47
Ontogeny of renal dysplasia in Ivemark syndrome: light and immunohistochemical characterization. ( 10074963 )
1999
48
Supraventricular tachycardia in patients with right atrial isomerism. ( 9741526 )
1998
49
Successful heart transplantation in a patient with Ivemark syndrome combined with situs inversus, single atrium and ventricle after total cavo-pulmonary connection. ( 9879878 )
1998
50
Management and outcomes of right atrial isomerism: a 26-year experience. ( 9562017 )
1998

Variations for Right Atrial Isomerism

ClinVar genetic disease variations for Right Atrial Isomerism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF1 NM_001492.5(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 GRCh37 Chromosome 19, 18979844: 18979844
2 GDF1 NM_001492.5(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 GRCh38 Chromosome 19, 18869035: 18869035
3 GDF1 NM_001492.5(GDF1): c.909dupC (p.Val304Argfs) duplication Pathogenic rs606231383 GRCh38 Chromosome 19, 18868807: 18868807
4 GDF1 NM_001492.5(GDF1): c.909dupC (p.Val304Argfs) duplication Pathogenic rs606231383 GRCh37 Chromosome 19, 18979616: 18979616
5 GUCY2C NM_004963.3(GUCY2C): c.410T> C (p.Leu137Ser) single nucleotide variant Pathogenic rs1057519441 GRCh37 Chromosome 12, 14836177: 14836177
6 GUCY2C NM_004963.3(GUCY2C): c.410T> C (p.Leu137Ser) single nucleotide variant Pathogenic rs1057519441 GRCh38 Chromosome 12, 14683243: 14683243
7 GDF1 NM_001492.5(GDF1): c.1090_1092delATG (p.Met364del) deletion Pathogenic rs753643819 GRCh37 Chromosome 19, 18979433: 18979435
8 GDF1 NM_001492.5(GDF1): c.1090_1092delATG (p.Met364del) deletion Pathogenic rs753643819 GRCh38 Chromosome 19, 18868624: 18868626

Expression for Right Atrial Isomerism

Search GEO for disease gene expression data for Right Atrial Isomerism.

Pathways for Right Atrial Isomerism

Pathways related to Right Atrial Isomerism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.32 GDF1 LEFTY2

GO Terms for Right Atrial Isomerism

Cellular components related to Right Atrial Isomerism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.33 DNAH5 DNAH7 NPHP3
2 dynein complex GO:0030286 8.96 DNAH5 DNAH7
3 axonemal dynein complex GO:0005858 8.62 DNAH5 DNAH7

Biological processes related to Right Atrial Isomerism according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.65 BMP10 GDF1 LEFTY2
2 regulation of apoptotic process GO:0042981 9.54 BMP10 GDF1 LEFTY2
3 BMP signaling pathway GO:0030509 9.49 BMP10 GDF1
4 microtubule-based movement GO:0007018 9.46 DNAH5 DNAH7
5 determination of left/right symmetry GO:0007368 9.43 DNAH5 NPHP3
6 cell development GO:0048468 9.43 BMP10 GDF1 LEFTY2
7 photoreceptor cell maintenance GO:0045494 9.4 NPHP3 USH1G
8 regulation of MAPK cascade GO:0043408 9.33 BMP10 GDF1 LEFTY2
9 cilium movement GO:0003341 9.32 DNAH5 DNAH7
10 SMAD protein signal transduction GO:0060395 9.13 BMP10 GDF1 LEFTY2
11 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 8.8 BMP10 GDF1 LEFTY2

Molecular functions related to Right Atrial Isomerism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.5 BMP10 GDF1 LEFTY2
2 motor activity GO:0003774 9.46 DNAH5 DNAH7
3 microtubule motor activity GO:0003777 9.43 DNAH5 DNAH7
4 dynein intermediate chain binding GO:0045505 9.4 DNAH5 DNAH7
5 dynein light intermediate chain binding GO:0051959 9.37 DNAH5 DNAH7
6 growth factor activity GO:0008083 9.33 BMP10 GDF1 LEFTY2
7 dynein light chain binding GO:0045503 9.26 DNAH5 DNAH7
8 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 8.96 DNAH5 DNAH7
9 transforming growth factor beta receptor binding GO:0005160 8.8 BMP10 GDF1 LEFTY2

Sources for Right Atrial Isomerism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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