RAI
MCID: RGH009
MIFTS: 60

Right Atrial Isomerism (RAI)

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

Aliases & Classifications for Right Atrial Isomerism

MalaCards integrated aliases for Right Atrial Isomerism:

Name: Right Atrial Isomerism 56 12 73 15 71
Ivemark Syndrome 56 12 74 52 58 73
Asplenia with Cardiovascular Anomalies 56 12 52 73
Bilateral Right-Sidedness Sequence 52 29 6
Rai 56 58 73
Asplenia Syndrome 52 71
Asplenia 29 6
Heterotaxy, Visceroatrial, Autosomal Recessive 73
Isomerism of Right Atrial Appendage 58
Right Sided Atrial Isomerism 58
Congenital Absence of Spleen 71
Splenic Agenesis Syndrome 52
Vah, Autosomal Recessive 73
Atrial Isomerism, Right 39
Right Isomerism 56
Polyasplenia 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
right atrial isomerism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Right Atrial Isomerism

OMIM : 56 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 holt-oram syndrome and ulnar-mammary syndrome. An important gene associated with Right Atrial Isomerism is GDF1 (Growth Differentiation Factor 1), and among its related pathways/superpathways are Developmental Biology and Mesodermal Commitment Pathway. The drugs Lactitol and Complement System Proteins have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and spleen, and related phenotypes are inguinal hernia and tetralogy of fallot

Disease Ontology : 12 A visceral heterotaxy that is 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 that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.

NIH Rare Diseases : 52 Ivemark syndrome is 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 gene mutations have not been identified. There is no cure for Ivemark syndrome. Treatment might include surgical repair of heart malformations when appropriate and prophylactic antibiotic therapy to reduce the incidence of infection due to the absence or poor function of the spleen.

UniProtKB/Swiss-Prot : 73 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 : 74 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 2285)
# Related Disease Score Top Affiliating Genes
1 holt-oram syndrome 32.0 TBX5 TBX20 NKX2-5 LEFTY2 CFC1
2 ulnar-mammary syndrome 31.8 TBX5 TBX20 NKX2-5
3 heterotaxy 30.6 ZIC3 NODAL CFC1 ACVR2B
4 dextrocardia with situs inversus 30.4 NODAL CITED2
5 bronchiectasis 30.2 DNAI1 DNAH5 DNAH11
6 ventricular septal defect 30.2 ZIC3 TBX5 NODAL NKX2-5 GDF1 CITED2
7 situs inversus 30.2 DNAI1 DNAH5 DNAH11
8 dextrocardia 29.8 ZIC3 NODAL LEFTY2 DNAI1 DNAH5 DNAH11
9 patent ductus arteriosus 1 29.8 ZIC3 TBX5 TBX20 NKX2-5 CFC1
10 eisenmenger syndrome 29.6 NKX2-5 CITED2
11 atrioventricular septal defect 29.4 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
12 heart septal defect 29.4 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
13 kartagener syndrome 29.4 ZIC3 PITX2 LEFTY2 LEFTY1 DNAI1 DNAH5
14 pulmonary valve stenosis 29.3 TBX5 NKX2-5 CFC1
15 paranasal sinus disease 29.3 DNAI1 DNAH5 DNAH11
16 total anomalous pulmonary venous return 1 29.1 ZIC3 TBX5 NODAL NKX2-5 CFC1 CERS1
17 wolff-parkinson-white syndrome 29.0 TBX5 TBX20 NKX2-5
18 heart disease 29.0 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
19 hypoplastic left heart syndrome 28.9 ZIC3 TBX5 TBX20 NODAL NKX2-5 CFC1
20 digeorge syndrome 28.9 TBX5 TBX20 PITX2 NKX2-5
21 tricuspid atresia 28.8 ZIC3 TBX5 TBX20 NKX2-5 CERS1
22 double outlet right ventricle 28.8 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
23 atrial heart septal defect 28.6 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
24 visceral heterotaxy 28.4 ZIC3 PITX2 NODAL LEFTY2 LEFTY1 GDF1
25 dextro-looped transposition of the great arteries 28.4 ZIC3 TBX5 PITX2 NODAL NKX2-5 LEFTY2
26 tetralogy of fallot 28.3 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
27 primary ciliary dyskinesia 28.0 ZIC3 PITX2 NODAL LEFTY2 LEFTY1 DNAI1
28 duane-radial ray syndrome 12.8
29 radial ray hypoplasia with choanal atresia 12.6
30 humerofemoral hypoplasia with radiotibial ray deficiency 12.5
31 radial ray deficiency, x-linked 12.4
32 omphalocele, diaphragmatic hernia, and radial ray defects 12.4
33 stormorken syndrome 12.4
34 weyers ulnar ray/oligodactyly syndrome 12.4
35 ulnar/fibular ray defect and brachydactyly 12.4
36 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male 12.3
37 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia 12.3
38 diaphragmatic hernia-short bowel-asplenia syndrome 12.2
39 ivic syndrome 12.2
40 polydactyly syndrome middle ray duplication 12.2
41 radial ray agenesis 12.2
42 heinz body anemias 11.6
43 rapadilino syndrome 11.5
44 heme oxygenase 1 deficiency 11.5
45 radial hemimelia 11.5
46 ataxia-telangiectasia 11.5
47 xeroderma pigmentosum, variant type 11.4
48 paget's disease of bone 11.4
49 baller-gerold syndrome 11.4
50 split hand-foot malformation 11.3

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



Diseases related to Right Atrial Isomerism

Symptoms & Phenotypes for Right Atrial Isomerism

Human phenotypes related to Right Atrial Isomerism:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 very rare (1%) HP:0000023
2 tetralogy of fallot 31 very rare (1%) HP:0001636
3 situs inversus totalis 31 very rare (1%) HP:0001696
4 asplenia 31 very rare (1%) HP:0001746
5 transposition of the great arteries 31 very rare (1%) HP:0001669
6 common atrium 31 very rare (1%) HP:0011565
7 total anomalous pulmonary venous return 31 very rare (1%) HP:0005160
8 aortopulmonary collateral arteries 31 very rare (1%) HP:0031834
9 atrial septal defect 31 HP:0001631
10 ventricular septal defect 31 HP:0001629
11 pulmonic stenosis 31 HP:0001642
12 agenesis of corpus callosum 31 HP:0001274
13 abnormal lung lobation 31 HP:0002101
14 polysplenia 31 HP:0001748
15 pulmonary artery atresia 31 HP:0004935
16 complete atrioventricular canal defect 31 HP:0001674
17 single ventricle 31 HP:0001750
18 right atrial isomerism 31 HP:0011536
19 abdominal situs ambiguus 31 HP:0031565

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
dextrocardia
anomalous pulmonary venous return
common atrium
right atrial isomerism
pulmonary stenosis
more
Respiratory Lung:
trilobulated lungs bilaterally (2 morphologic right lungs)

Abdomen Liver:
midline liver

Abdomen Spleen:
asplenia

Abdomen:
situs inversus
situs ambiguous

Clinical features from OMIM:

208530

GenomeRNAi Phenotypes related to Right Atrial Isomerism according to GeneCards Suite gene sharing:

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10 ACVR2B
2 Decreased viability GR00221-A-1 10 ACVR2B
3 Decreased viability GR00221-A-2 10 ACVR2B
4 Decreased viability GR00221-A-4 10 ACVR2B
5 Decreased viability GR00240-S-1 10 NODAL
6 Decreased viability GR00249-S 10 BMP10 CITED2 NODAL PITX2 ZIC3
7 Decreased viability GR00381-A-1 10 NODAL
8 Decreased viability GR00381-A-2 10 NODAL
9 Decreased viability GR00381-A-3 10 NODAL
10 Decreased viability GR00386-A-1 10 BMP10 CFC1 DNAI1 ZIC3
11 Decreased viability GR00402-S-2 10 BMP10 CFC1 GDF1 NODAL PITX2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.64 ACVR2B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.64 ACVR2B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.64 LEFTY1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.64 ACVR2B LEFTY1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.64 ACVR2B DNAI1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.64 DNAI1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.64 DNAI1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.64 ACVR2B
20 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.64 LEFTY1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.64 DNAI1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.64 LEFTY1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.64 LEFTY1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.64 ACVR2B
25 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.64 DNAI1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.64 DNAI1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.64 DNAI1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.64 ACVR2B
29 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.64 LEFTY1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.64 ACVR2B

MGI Mouse Phenotypes related to Right Atrial Isomerism:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.5 ACVR2B BMP10 CITED2 DAND5 DNAH11 DNAH5
2 growth/size/body region MP:0005378 10.46 ACVR2B BMP10 CERS1 CITED2 DAND5 DNAH11
3 cellular MP:0005384 10.4 ACVR2B BMP10 CERS1 DNAH11 DNAH5 DNAI1
4 embryo MP:0005380 10.4 ACVR2B BMP10 CITED2 DAND5 DNAH11 GDF1
5 mortality/aging MP:0010768 10.36 ACVR2B BMP10 CERS1 CITED2 DAND5 DNAH11
6 hematopoietic system MP:0005397 10.34 ACVR2B BMP10 CERS1 CITED2 DNAH11 DNAH5
7 immune system MP:0005387 10.3 ACVR2B BMP10 CITED2 DNAH11 DNAH5 DNAI1
8 homeostasis/metabolism MP:0005376 10.26 ACVR2B BMP10 CERS1 CITED2 DNAH11 GUCY2C
9 digestive/alimentary MP:0005381 10.24 CITED2 DNAH11 DNAH5 GDF1 GUCY2C LEFTY2
10 craniofacial MP:0005382 10.2 CITED2 DNAH11 DNAH5 DNAI1 GDF1 NKX2-5
11 liver/biliary system MP:0005370 10.13 ACVR2B DNAH11 DNAH5 GDF1 GUCY2C LEFTY1
12 nervous system MP:0003631 10.1 CERS1 CITED2 DNAH5 DNAI1 GDF1 LEFTY1
13 normal MP:0002873 10 BMP10 CITED2 DNAH11 DNAI1 GDF1 NKX2-5
14 muscle MP:0005369 9.97 ACVR2B BMP10 DNAH11 NKX2-5 NODAL PITX2
15 respiratory system MP:0005388 9.77 ACVR2B CITED2 DAND5 DNAH11 DNAH5 DNAI1
16 renal/urinary system MP:0005367 9.7 ACVR2B BMP10 CITED2 DNAH11 DNAH5 GDF1
17 skeleton MP:0005390 9.32 ACVR2B CITED2 DNAH11 DNAH5 DNAI1 GDF1

Drugs & Therapeutics for Right Atrial Isomerism

Drugs for Right Atrial Isomerism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactitol Approved, Investigational Phase 3 585-88-6, 585-86-4 493591
2 Complement System Proteins Phase 3
3 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
4 Immunologic Factors Phase 3
5 Vaccines Phase 3
6 Immunoglobulins Phase 2
7 Antibodies Phase 2
8
Hydroxyurea Approved 127-07-1 3657
9
rituximab Approved 174722-31-7 10201696
10
Ocrelizumab Approved, Investigational 637334-45-3
11 Kava Approved, Investigational, Nutraceutical 9000-38-8
12 Antibodies, Anti-Idiotypic
13 Antibodies, Monoclonal
14 Hormones

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Study of the B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic Individuals With Beta-thalassemia Major Unknown status NCT01846923 Phase 4
2 A Phase IIIb, Open Label, Controlled, Multi-Center Study to Evaluate the Safety, Tolerability and Immunogenicity of Two Doses of Novartis Meningococcal Group B Vaccine When Administered to Immunocompromised Patients From 2 to 17 Years of Age Who Are at Increased Risk of Meningococcal Disease Because of Complement Deficiency or Asplenia Compared to Matched Healthy Controls. Completed NCT02141516 Phase 3
3 Immunogenicity, Safety and Reactogenicity Study of GSK Biologicals' Pneumococcal Vaccine (Synflorix™) When Administered to Children Who Are at an Increased Risk of Pneumococcal Infection Completed NCT01746108 Phase 3
4 Safety and Immunogenicity of 23-valent Pneumococcal Polysaccharide Vaccine in 2 to 70 Years Old Healthy People in China Completed NCT01451086 Phase 3
5 Multicenter, Randomized, Phase III, Trial Assessing the Immunogenicity and Safety of Three Meningococal B Vaccine Strategies Among Patients With Asplenia Not yet recruiting NCT04166656 Phase 3
6 Multicenter Pilot Study Evaluating the Immunogenicity of an Innovative Pneumococcal Vaccination Strategy in Splenectomized Adults Unknown status NCT02052154 Phase 2
7 Open Randomized Trial Evaluating Four Anti-pneumococcal Vaccine Strategies With Fractionated Doses of Non Conjugate Polysaccharide Vaccine to Prevent Hyporesponse in Healthy Volunteers Unknown status NCT02279589 Phase 2
8 Impact of the 7 Valent Pneumococcal Conjugate Vaccine on Nasopharyngeal Carriage of S. Pneumoniae in Healthy Jordanian Infants. Unknown status NCT00900978 Phase 1, Phase 2
9 Immunologic Response to Pneumococcal Polysaccharide Vaccine in Splenic Injury Patients Recruiting NCT02232191 Phase 2
10 Evaluation of Feeding Intolerance in Premature Infants Using Near Infrared Spectroscopy Unknown status NCT02534090
11 Mortality and Morbidity in a Large Cohort of Asplenic Patients: a Nationwide Survey From the Italian Network on Asplenia Completed NCT03571399
12 Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data Completed NCT01929967
13 Screening for Pulmonary Vascular Changes in Patients With Chronic Myeloproliferative Diseases Completed NCT01787162
14 Monocytic Expression of Heme Oxidase-1 (HO-1) in Sickle Cell Patients and Correlation With the Humoral Immune Response to Vaccine and With Allo-immunization Completed NCT03111589
15 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
16 Assessment of Complication Risk Factors in a French National Cohort of Asplenic Patients Recruiting NCT04199403
17 Altered Microbiota is Related Increased Infection Rates After Traumatic Splenectomy Recruiting NCT03420599
18 Evaluation of Safety, Tolerability and Immunogenicity of Two Doses of the 4CMenB Vaccine in Adults With an Immunodeficiency Recruiting NCT04295733
19 Prevalance and Risk Factors for Complications in Children With B- Thalassemia Major Not yet recruiting NCT03462784
20 Racial Distribution of Heterotaxy Syndrome and Effects on Clinical Outcomes Protocol Terminated NCT00485654

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:

40
Heart, Lung, Spleen, Liver, Kidney, Monocytes, Atrioventricular Node

Publications for Right Atrial Isomerism

Articles related to Right Atrial Isomerism:

(show top 50) (show all 240)
# Title Authors PMID Year
1
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 6 56 61
20413652 2010
2
Right atrial isomerism in four siblings. 61 6 56
14648004 2004
3
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 6 56
28991257 2017
4
Ivemark syndrome with asplenia in siblings. 61 56
9152295 1997
5
Ivemark syndrome in siblings. 56 61
7172476 1982
6
Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs. 61 56
4774542 1973
7
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 6
17924340 2007
8
connexin43 gene mutations and heterotaxy. 56
9443444 1998
9
Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects. 56
9201627 1997
10
Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. 56
8873667 1996
11
Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)]. 56
8834045 1996
12
Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. 56
7715640 1995
13
Polyasplenia, caudal deficiency, and agenesis of the corpus callosum. 56
2012140 1991
14
Familial situs inversus and congenital heart defects. 56
3674113 1987
15
Dextrocardia with and without situs viscerum inversus in two sibs. 56
3425603 1987
16
Sisters with polysplenia. 56
4003441 1985
17
Consanguinity and complex cardiac anomalies with situs ambiguus. 56
6712272 1984
18
Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. 56
6638068 1983
19
Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes. 56
6638069 1983
20
Asplenia and polysplenia malformation complexes explained by abnormal embryonic body curvature. 56
6622295 1983
21
Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship. 56
7277426 1981
22
Familial splenic anomaly syndrome. 56
874654 1977
23
Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malformations in 60 cases withspecial reference to diagnosis and prognosis. 56
1191445 1975
24
Congenital cardiac disease associated with polysplenia. A developmental complex of bilateral "left-sidedness". 56
6050934 1967
25
SYNDROME OF CONGENITAL CARDIAC DISEASE WITH ASPLENIA. DISTINCTION FROM OTHER FORMS OF CONGENITAL CYANOTIC CARDIAC DISEASE. 56
14128648 1964
26
Congenital absence of the spleen; syndrome with atrioventricularis and situs inversus; case reports and review of the literature. 56
14929628 1952
27
Surgical Management of Heterotaxy Syndrome: Current Challenges and Opportunities. 61
32093563 2020
28
Pulmonary venous obstruction after extracardiac total cavopulmonary connection in right atrial isomerism. 61
32036565 2020
29
Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects. 61
32039782 2020
30
Situs Ambiguous Anomaly during Laparoscopic Cholecystectomy in an Adult Female. 61
32165841 2020
31
Midterm results and risk factors of functional single ventricles with extracardiac total anomalous pulmonary venous connection. 61
31134530 2019
32
Fetal case of right atrial isomerism with infracardiac total anomalous pulmonary venous connection and agenesis of the ductus venosus. 61
31397516 2019
33
Retraction Note to: Primary Draining Vein Stenting for Obstructive Total Anomalous Pulmonary Venous Connection in Neonates with Right Atrial Isomerism and Functional Single Ventricle Improves Outcome. 61
31218372 2019
34
Characterisation of computed tomography angiography findings in paediatric patients with heterotaxy. 61
31165901 2019
35
Concurrent right atrial isomerism, complete atrioventricular septal defect, and single ventricle in an L-transposition of great arteries patient complicated by brain abscess. 61
31237225 2019
36
Cardiac Rhythm Disturbances in Heterotaxy Syndrome. 61
30877320 2019
37
Pre natal evaluation of heterotaxy syndrome by fetal echocardiography and correlating with autopsy. 61
31037095 2019
38
Primary Draining Vein Stenting for Obstructive Total Anomalous Pulmonary Venous Connection in Neonates with Right Atrial Isomerism and Functional Single Ventricle Improves Outcome. 61
29777280 2018
39
Effect of Prenatal Laterality Disturbance and Its Accompanying Anomalies on Survival. 61
29954599 2018
40
[Improving outcomes of patients with heterotaxy and functional single ventricle: a 10-year follow-up of 70 cases in a single institution]. 61
29779315 2018
41
Heterotaxy syndrome and associated arrhythmias in pediatric patients. 61
29154821 2018
42
Antenatal diagnosis of total anomalous pulmonary venous connection in functional single ventricle hearts: Outcomes over 13-year period. 61
29456581 2018
43
Successful Palliation via Kawashima Procedure of an Infant With Heterotaxy Syndrome and Left-Atrial Isomerism. 61
30559629 2018
44
Long-term outcome of patients with right atrial isomerism after common atrioventricular valve plasty. 61
28329375 2017
45
Partial anomalous hepatic venous drainage into left-sided atrium with right isomerism: A case report with review of literature. 61
28744078 2017
46
Ivemark syndrome: bronchial compression from anomalous pulmonary venous anatomy. 61
28458851 2017
47
A successful staged Fontan operation for a right atrial isomerism neonate having major aortopulmonary collateral arteries and extracardiac total anomalous pulmonary venous connection. 61
27628651 2017
48
The concept of double inlet-double outlet right ventricle: a distinct congenital heart disease. 61
27866077 2017
49
Electrophysiology Study for Complex Supraventricular Tachycardia in Congenital Heart Disease Patients With Single-Ventricle Physiology. 61
27799231 2016
50
Ivemark Syndrome. 61
27735157 2016

Variations for Right Atrial Isomerism

ClinVar genetic disease variations for Right Atrial Isomerism:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GDF1 NM_001492.6(GDF1):c.1090_1092del (p.Met364del)deletion Pathogenic 522570 rs753643819 19:18979433-18979435 19:18868624-18868626
2 GDF1 NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)SNV Pathogenic 6747 rs121434422 19:18979844-18979844 19:18869035-18869035
3 GDF1 NM_001492.6(GDF1):c.909dup (p.Val304fs)duplication Pathogenic 65389 rs606231383 19:18979615-18979616 19:18868806-18868807
4 GUCY2C NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser)SNV Pathogenic 375380 rs1057519441 12:14836177-14836177 12:14683243-14683243

Expression for Right Atrial Isomerism

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

Pathways for Right Atrial Isomerism

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 nuclear chromatin GO:0000790 9.8 TLX1 TBX5 TBX20 PITX2 NKX2-5 CITED2
2 extracellular region GO:0005576 9.36 NODAL LEFTY2 LEFTY1 GDF1 DNAI1 DNAH5
3 outer dynein arm GO:0036157 9.26 DNAI1 DNAH5
4 9+2 motile cilium GO:0097729 9.16 DNAH5 DNAH11
5 dynein complex GO:0030286 9.13 DNAI1 DNAH5 DNAH11

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

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.25 TLX1 TBX5 TBX20 PITX2 NKX2-5 CITED2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.13 ZIC3 TLX1 TBX5 TBX20 PITX2 NODAL
3 positive regulation of transcription, DNA-templated GO:0045893 10.09 ZIC3 TBX5 TBX20 NKX2-5 CITED2 BMP10
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.09 TBX5 TBX20 NODAL NKX2-5 LEFTY1 CITED2
5 multicellular organism development GO:0007275 9.93 ZIC3 TLX1 TBX5 TBX20 PITX2 NODAL
6 transforming growth factor beta receptor signaling pathway GO:0007179 9.87 LEFTY2 LEFTY1 CITED2
7 microtubule-based movement GO:0007018 9.84 DNAI1 DNAH5 DNAH11
8 anterior/posterior pattern specification GO:0009952 9.84 ZIC3 NODAL CFC1 ACVR2B
9 flagellated sperm motility GO:0030317 9.83 DNAI1 DNAH5 DNAH11
10 vasculogenesis GO:0001570 9.82 TBX20 NKX2-5 CITED2
11 pattern specification process GO:0007389 9.8 ZIC3 TBX5 ACVR2B
12 outflow tract morphogenesis GO:0003151 9.8 TBX20 NKX2-5 CITED2
13 lung development GO:0030324 9.8 ZIC3 TBX5 NODAL ACVR2B
14 heart looping GO:0001947 9.8 ZIC3 TBX20 NODAL NKX2-5 CITED2
15 cilium movement GO:0003341 9.77 DNAI1 DNAH5 DNAH11
16 positive regulation of cardiac muscle cell proliferation GO:0060045 9.77 TBX5 TBX20 BMP10
17 SMAD protein signal transduction GO:0060395 9.77 NODAL LEFTY2 LEFTY1 GDF1 BMP10
18 ventricular septum development GO:0003281 9.76 TBX5 DAND5 CITED2
19 spleen development GO:0048536 9.73 PITX2 NKX2-5 CITED2
20 BMP signaling pathway GO:0030509 9.73 NODAL LEFTY2 LEFTY1 GDF1 BMP10 ACVR2B
21 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.72 NODAL LEFTY2 LEFTY1 GDF1 BMP10
22 negative regulation of cardiac muscle cell proliferation GO:0060044 9.71 TBX5 CITED2
23 embryonic placenta development GO:0001892 9.71 NODAL CITED2
24 regulation of cardiac muscle contraction GO:0055117 9.71 NKX2-5 BMP10
25 activin receptor signaling pathway GO:0032924 9.7 BMP10 ACVR2B
26 gastrulation with mouth forming second GO:0001702 9.7 NODAL ACVR2B
27 outer dynein arm assembly GO:0036158 9.7 DNAI1 DNAH5
28 positive regulation of cell-cell adhesion GO:0022409 9.7 NODAL CITED2
29 heart trabecula formation GO:0060347 9.69 NKX2-5 BMP10
30 cardiac muscle tissue morphogenesis GO:0055008 9.69 TBX20 NKX2-5
31 trophectodermal cell differentiation GO:0001829 9.68 NODAL CITED2
32 left/right axis specification GO:0070986 9.68 PITX2 CITED2
33 cardiac septum morphogenesis GO:0060411 9.68 DNAH11 CITED2
34 cardiac muscle cell proliferation GO:0060038 9.68 NKX2-5 BMP10
35 adult heart development GO:0007512 9.67 NKX2-5 BMP10
36 endocardial cushion development GO:0003197 9.67 TBX5 CITED2
37 ventricular cardiac muscle cell development GO:0055015 9.66 NKX2-5 BMP10
38 nodal signaling pathway GO:0038092 9.66 NODAL CFC1
39 atrial septum development GO:0003283 9.65 TBX5 DAND5
40 determination of heart left/right asymmetry GO:0061371 9.65 DAND5 CITED2
41 epithelial cilium movement GO:0003351 9.65 DNAI1 DNAH5 DNAH11
42 heart development GO:0007507 9.65 TBX5 NODAL NKX2-5 DNAI1 DNAH5 DNAH11
43 embryonic process involved in female pregnancy GO:0060136 9.64 NODAL CITED2
44 positive regulation of activin receptor signaling pathway GO:0032927 9.63 NODAL ACVR2B
45 embryonic heart tube development GO:0035050 9.63 TBX20 NODAL NKX2-5
46 positive regulation of cardioblast differentiation GO:0051891 9.62 TBX5 NKX2-5
47 embryonic heart tube left/right pattern formation GO:0060971 9.61 NKX2-5 CITED2
48 atrial septum morphogenesis GO:0060413 9.61 TBX5 TBX20 NKX2-5
49 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.58 NODAL CITED2
50 bundle of His development GO:0003166 9.57 TBX5 NKX2-5

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.93 ZIC3 TLX1 TBX5 TBX20 PITX2 NKX2-5
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.88 ZIC3 TLX1 TBX5 TBX20 PITX2 NKX2-5
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.77 ZIC3 TLX1 TBX5 TBX20 NKX2-5
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 ZIC3 TLX1 TBX5 TBX20 PITX2 NKX2-5
5 motor activity GO:0003774 9.65 DNAI1 DNAH5 DNAH11
6 cytokine activity GO:0005125 9.55 NODAL LEFTY2 LEFTY1 GDF1 BMP10
7 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.49 DNAH5 DNAH11
8 transforming growth factor beta receptor binding GO:0005160 9.43 LEFTY2 LEFTY1
9 morphogen activity GO:0016015 9.32 NODAL DAND5
10 RNA polymerase II activating transcription factor binding GO:0001102 9.26 TBX5 TBX20 PITX2 CITED2
11 growth factor activity GO:0008083 9.1 NODAL LEFTY2 LEFTY1 GDF1 CERS1 BMP10

Sources for Right Atrial Isomerism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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