Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
RAI
MCID: RGH009
MIFTS: 57

Right Atrial Isomerism (RAI)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Right Atrial Isomerism

About this section

MalaCards integrated aliases for Right Atrial Isomerism:

Name: Right Atrial Isomerism 57 12 72 15 70
Ivemark Syndrome 57 12 73 20 58 72
Asplenia with Cardiovascular Anomalies 57 12 20 72
Bilateral Right-Sidedness Sequence 20 29 6
Rai 57 58 72
Asplenia Syndrome 20 70
Asplenia 29 6
Heterotaxy, Visceroatrial, Autosomal Recessive 72
Isomerism of Right Atrial Appendage 58
Right Sided Atrial Isomerism 58
Congenital Absence of Spleen 70
Splenic Agenesis Syndrome 20
Vah, Autosomal Recessive 72
Atrial Isomerism, Right 39
Right Isomerism 57
Polyasplenia 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Sources

Summaries for Right Atrial Isomerism

About this section
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) (Updated 05-Apr-2021)

MalaCards based summary : Right Atrial Isomerism, also known as ivemark syndrome, is related to congenital heart defects, multiple types, 6 and ventricular septal defect. 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, spleen and liver, 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.

GARD : 20 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 : 72 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 : 73 Asplenia with cardiovascular anomalies, also known as Ivemark syndrome and right atrial isomerism, is an... more...

Sources

Related Diseases for Right Atrial Isomerism

About this section

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

(show top 50) (show all 343)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, multiple types, 6 30.8 GDF1 CERS1
2 ventricular septal defect 30.7 ZIC3 TBX5 NODAL NKX2-5 GDF1 CITED2
3 heterotaxy 30.6 ZIC3 NODAL GDF1 CFC1 CERS1 ACVR2B
4 primary ciliary dyskinesia 30.6 ZIC3 PITX2 NODAL LEFTY2 LEFTY1 GDF1
5 heart septal defect 30.5 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
6 dextrocardia 30.5 ZIC3 NODAL LEFTY2 DNAI1 DNAH5 DNAH11
7 atrioventricular septal defect 30.4 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
8 situs inversus 30.3 DNAI1 DNAH5 DNAH11
9 duodenal atresia 30.2 ZIC3 GUCY2C C12orf60
10 dextrocardia with situs inversus 30.2 NODAL CITED2
11 conotruncal heart malformations 30.0 NKX2-5 GDF1 CERS1
12 patent ductus arteriosus 1 29.9 ZIC3 TBX5 TBX20 NODAL NKX2-5 LEFTY2
13 pulmonary valve stenosis 29.9 ZIC3 TBX5 TBX20 NKX2-5 LEFTY2 CFC1
14 dextro-looped transposition of the great arteries 29.7 ZIC3 TBX5 PITX2 NODAL NKX2-5 GDF1
15 atrial heart septal defect 29.7 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
16 visceral heterotaxy 29.6 ZIC3 PITX2 NODAL LEFTY2 LEFTY1 GDF1
17 double outlet right ventricle 29.5 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
18 hypoplastic left heart syndrome 29.5 ZIC3 TBX5 TBX20 NODAL NKX2-5 CFC1
19 kartagener syndrome 29.4 ZIC3 PITX2 LEFTY2 LEFTY1 GDF1 DNAI1
20 tetralogy of fallot 29.2 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
21 heart disease 28.7 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
22 stormorken syndrome 11.6
23 heinz body anemias 11.4
24 asplenia, isolated congenital 11.2
25 diaphragmatic hernia-short bowel-asplenia syndrome 11.0
26 atrioventricular septal defect 4 11.0
27 atrioventricular septal defect 5 11.0
28 pregnancy loss, recurrent 1 10.9
29 pregnancy loss, recurrent 2 10.9
30 pregnancy loss, recurrent 3 10.9
31 heme oxygenase 1 deficiency 10.9
32 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.9
33 heterotaxy, visceral, 1, x-linked 10.9
34 single ventricular heart 10.6
35 leukemia, chronic lymphocytic 10.4
36 thyroid carcinoma 10.4
37 isolated congenitally uncorrected transposition of the great arteries 10.4 ZIC3 CFC1
38 haemophilus influenzae 10.4
39 epilepsy, progressive myoclonic, 8 10.4 GDF1 CERS1
40 lumbosacral lipoma 10.3 TBX5 LEFTY2
41 cardiac arrhythmia 10.3
42 diarrhea 6 10.3 GUCY2C C12orf60
43 ciliary dyskinesia, primary, 8 10.3 DNAI1 DNAH5 DNAH11
44 ciliary dyskinesia, primary, 4 10.3 DNAI1 DNAH5 DNAH11
45 ciliary dyskinesia, primary, 2 10.3 DNAI1 DNAH5 DNAH11
46 bacterial infectious disease 10.3
47 differentiated thyroid carcinoma 10.3
48 middle ear disease 10.2 DNAI1 DNAH5 DNAH11
49 paranasal sinus disease 10.2 DNAI1 DNAH5 DNAH11
50 char syndrome 10.2 TBX5 TBX20 CITED2

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



Diseases related to Right Atrial Isomerism
Sources

Symptoms & Phenotypes for Right Atrial Isomerism

About this section

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 agenesis of corpus callosum 31 HP:0001274
10 atrial septal defect 31 HP:0001631
11 ventricular septal defect 31 HP:0001629
12 pulmonic stenosis 31 HP:0001642
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.49 ACVR2B BMP10 CITED2 DAND5 DNAH11 DNAH5
2 growth/size/body region MP:0005378 10.45 ACVR2B BMP10 CERS1 CITED2 DAND5 DNAH11
3 cellular MP:0005384 10.36 ACVR2B BMP10 CERS1 DNAH11 DNAH5 DNAI1
4 embryo MP:0005380 10.36 ACVR2B BMP10 CITED2 DAND5 DNAH11 GDF1
5 mortality/aging MP:0010768 10.36 ACVR2B BMP10 CERS1 CITED2 DAND5 DNAH11
6 hematopoietic system MP:0005397 10.32 ACVR2B BMP10 CERS1 CITED2 DNAH11 DNAH5
7 immune system MP:0005387 10.27 ACVR2B BMP10 CITED2 DNAH11 DNAH5 DNAI1
8 craniofacial MP:0005382 10.24 CITED2 DNAH11 DNAH5 DNAI1 GDF1 NKX2-5
9 digestive/alimentary MP:0005381 10.22 CITED2 DNAH11 DNAH5 GDF1 GUCY2C LEFTY2
10 nervous system MP:0003631 10.17 ACVR2B BMP10 CERS1 CITED2 DNAH5 DNAI1
11 liver/biliary system MP:0005370 10.13 ACVR2B DNAH11 DNAH5 GDF1 GUCY2C LEFTY1
12 normal MP:0002873 10 BMP10 CITED2 DNAH11 DNAI1 GDF1 NKX2-5
13 muscle MP:0005369 9.97 ACVR2B BMP10 DNAH11 NKX2-5 NODAL PITX2
14 respiratory system MP:0005388 9.77 ACVR2B CITED2 DAND5 DNAH11 DNAH5 DNAI1
15 renal/urinary system MP:0005367 9.7 ACVR2B BMP10 CITED2 DNAH11 DNAH5 GDF1
16 skeleton MP:0005390 9.32 ACVR2B CITED2 DNAH11 DNAH5 DNAI1 GDF1
Sources

Drugs & Therapeutics for Right Atrial Isomerism

About this section

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactitol Approved, Investigational Phase 3 585-86-4 157355
2 Complement System Proteins Phase 3
3 Vaccines Phase 3
4 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
5 Immunologic Factors Phase 2
6 Antibodies Phase 2
7 Immunoglobulins Phase 2

Interventional clinical trials:


# 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 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
4 Immunologic Response to Pneumococcal Polysaccharide Vaccine in Splenic Injury Patients Recruiting NCT02232191 Phase 2
5 Mortality and Morbidity in a Large Cohort of Asplenic Patients: a Nationwide Survey From the Italian Network on Asplenia Completed NCT03571399
6 Assessment of Complication Risk Factors in a French National Cohort of Asplenic Patients Recruiting NCT04199403

Search NIH Clinical Center for Right Atrial Isomerism

Sources

Genetic Tests for Right Atrial Isomerism

About this section

Genetic tests related to Right Atrial Isomerism:

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

Anatomical Context for Right Atrial Isomerism

About this section

MalaCards organs/tissues related to Right Atrial Isomerism:

40
Heart, Spleen, Liver, Lung, Kidney, Brain, Pancreas
Sources

Publications for Right Atrial Isomerism

About this section

Articles related to Right Atrial Isomerism:

(show top 50) (show all 247)
# Title Authors PMID Year
1
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 6 57 61
20413652 2010
2
Right atrial isomerism in four siblings. 6 57 61
14648004 2004
3
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 57 6
28991257 2017
4
Ivemark syndrome with asplenia in siblings. 61 57
9152295 1997
5
Ivemark syndrome in siblings. 57 61
7172476 1982
6
Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs. 61 57
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. 57
9443444 1998
9
Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects. 57
9201627 1997
10
Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. 57
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)]. 57
8834045 1996
12
Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. 57
7715640 1995
13
Polyasplenia, caudal deficiency, and agenesis of the corpus callosum. 57
2012140 1991
14
Familial situs inversus and congenital heart defects. 57
3674113 1987
15
Dextrocardia with and without situs viscerum inversus in two sibs. 57
3425603 1987
16
Sisters with polysplenia. 57
4003441 1985
17
Consanguinity and complex cardiac anomalies with situs ambiguus. 57
6712272 1984
18
Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. 57
6638068 1983
19
Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes. 57
6638069 1983
20
Asplenia and polysplenia malformation complexes explained by abnormal embryonic body curvature. 57
6622295 1983
21
Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship. 57
7277426 1981
22
Familial splenic anomaly syndrome. 57
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. 57
1191445 1975
24
Congenital cardiac disease associated with polysplenia. A developmental complex of bilateral "left-sidedness". 57
6050934 1967
25
SYNDROME OF CONGENITAL CARDIAC DISEASE WITH ASPLENIA. DISTINCTION FROM OTHER FORMS OF CONGENITAL CYANOTIC CARDIAC DISEASE. 57
14128648 1964
26
Congenital absence of the spleen; syndrome with atrioventricularis and situs inversus; case reports and review of the literature. 57
14929628 1952
27
Twin atrioventricular nodes, arrhythmias, and survival in pediatric and adult patients with heterotaxy syndrome. 61
33321198 2021
28
Prenatal diagnosis of double-outlet right ventricle with tricuspid valve atresia, anomalous pulmonary vein connection, persistent left superior vena cava, and right atrial isomerism. 61
32880971 2021
29
Risk analysis for patients with a functionally univentricular heart after systemic-to-pulmonary shunt placement. 61
33712829 2021
30
Right atrial isomerism diagnosed by STIC-HD live flow and autopsy: A case report. 61
33663125 2021
31
Unique foetal diagnosis of aorto-pulmonary collaterals in right atrial isomerism. 61
33239120 2021
32
Renal replacement therapy with a cytokine-adsorbing hemofilter after neonatal open-heart surgery. 61
33416978 2021
33
A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling. 61
32633470 2020
34
Pulmonary venous obstruction after extracardiac total cavopulmonary connection in right atrial isomerism. 61
32036565 2020
35
Surgical Management of Heterotaxy Syndrome: Current Challenges and Opportunities. 61
32093563 2020
36
Situs Ambiguous Anomaly during Laparoscopic Cholecystectomy in an Adult Female. 61
32165841 2020
37
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
38
Fetal case of right atrial isomerism with infracardiac total anomalous pulmonary venous connection and agenesis of the ductus venosus. 61
31397516 2019
39
Midterm results and risk factors of functional single ventricles with extracardiac total anomalous pulmonary venous connection. 61
31134530 2019
40
Characterisation of computed tomography angiography findings in paediatric patients with heterotaxy. 61
31165901 2019
41
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
42
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
43
Cardiac Rhythm Disturbances in Heterotaxy Syndrome. 61
30877320 2019
44
Pre natal evaluation of heterotaxy syndrome by fetal echocardiography and correlating with autopsy. 61
31037095 2019
45
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
46
Effect of Prenatal Laterality Disturbance and Its Accompanying Anomalies on Survival. 61
29954599 2018
47
[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
48
Heterotaxy syndrome and associated arrhythmias in pediatric patients. 61
29154821 2018
49
Antenatal diagnosis of total anomalous pulmonary venous connection in functional single ventricle hearts: Outcomes over 13-year period. 61
29456581 2018
50
Successful Palliation via Kawashima Procedure of an Infant With Heterotaxy Syndrome and Left-Atrial Isomerism. 61
30559629 2018
Sources

Variations for Right Atrial Isomerism

About this section

ClinVar genetic disease variations for Right Atrial Isomerism:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CERS1 , GDF1 NM_001492.6(GDF1):c.1090_1092del (p.Met364del) Deletion Pathogenic 522570 rs753643819 GRCh37: 19:18979433-18979435
GRCh38: 19:18868624-18868626
2 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser) SNV Pathogenic 375380 rs1057519441 GRCh37: 12:14836177-14836177
GRCh38: 12:14683243-14683243
3 CERS1 , GDF1 NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) SNV Pathogenic 6747 rs121434422 GRCh37: 19:18979844-18979844
GRCh38: 19:18869035-18869035
4 CERS1 , GDF1 NM_001492.6(GDF1):c.909dup (p.Val304fs) Duplication Pathogenic 65389 rs606231383 GRCh37: 19:18979615-18979616
GRCh38: 19:18868806-18868807
Sources

Expression for Right Atrial Isomerism

About this section
Search GEO for disease gene expression data for Right Atrial Isomerism.
Sources

Pathways for Right Atrial Isomerism

About this section

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

# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 13.25 ZIC3 NODAL LEFTY2 LEFTY1 GDF1 DAND5
2
Mesodermal Commitment Pathway 1
Show member pathways
 12.33 ZIC3 PITX2 NODAL LEFTY2 LEFTY1 ACVR2B
3
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.14 TBX5 NKX2-5 LEFTY2 LEFTY1 CFC1 BMP10
4
Signaling pathways regulating pluripotency of stem cells 36
11.87 ZIC3 NODAL LEFTY2 LEFTY1 ACVR2B
5
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.78 TBX5 NODAL NKX2-5
6
TGF-beta signaling pathway (KEGG) 36
11.63 PITX2 NODAL LEFTY2 LEFTY1 ACVR2B
7
Cardiac Progenitor Differentiation 1
11.43 TBX5 TBX20 NODAL NKX2-5
8
Heart Development 1
11.02 TBX5 TBX20 PITX2 NKX2-5 BMP10
9
Signaling by NODAL 65
Show member pathways
 10.87 NODAL LEFTY2 LEFTY1 GDF1 DAND5 CFC1
10
Cardiomyocyte Differentiation through BMP Receptors 63
10.8 NKX2-5 BMP10
Sources

GO Terms for Right Atrial Isomerism

About this section

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 NODAL LEFTY2 LEFTY1 GDF1 DNAI1 DNAH5
2 outer dynein arm GO:0036157 9.26 DNAI1 DNAH5
3 dynein complex GO:0030286 9.13 DNAI1 DNAH5 DNAH11
4 9+2 motile cilium GO:0097729 8.8 DNAI1 DNAH5 DNAH11

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
2 positive regulation of transcription, DNA-templated GO:0045893 10.09 ZIC3 TBX5 TBX20 NKX2-5 CITED2 BMP10
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.09 TBX20 PITX2 NODAL NKX2-5 LEFTY1 CITED2
4 multicellular organism development GO:0007275 10 ZIC3 TBX5 TBX20 PITX2 NODAL NKX2-5
5 transforming growth factor beta receptor signaling pathway GO:0007179 9.86 LEFTY2 LEFTY1 CITED2
6 lung development GO:0030324 9.85 ZIC3 TBX5 NODAL
7 microtubule-based movement GO:0007018 9.83 DNAI1 DNAH5 DNAH11
8 flagellated sperm motility GO:0030317 9.82 DNAI1 DNAH5 DNAH11
9 anterior/posterior pattern specification GO:0009952 9.81 ZIC3 NODAL CFC1 ACVR2B
10 vasculogenesis GO:0001570 9.8 TBX20 NKX2-5 CITED2
11 SMAD protein signal transduction GO:0060395 9.8 NODAL LEFTY2 LEFTY1 GDF1 BMP10
12 heart looping GO:0001947 9.77 ZIC3 TBX20 NODAL NKX2-5 CITED2
13 cilium movement GO:0003341 9.76 DNAI1 DNAH5 DNAH11
14 positive regulation of cardiac muscle cell proliferation GO:0060045 9.74 TBX5 TBX20 BMP10
15 ventricular septum development GO:0003281 9.73 TBX5 DAND5 CITED2
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.72 NODAL LEFTY2 LEFTY1 GDF1 BMP10
17 regulation of cardiac muscle contraction GO:0055117 9.7 NKX2-5 BMP10
18 negative regulation of cardiac muscle cell proliferation GO:0060044 9.7 TBX5 CITED2
19 spleen development GO:0048536 9.7 PITX2 NKX2-5 CITED2
20 embryonic placenta development GO:0001892 9.69 NODAL CITED2
21 outer dynein arm assembly GO:0036158 9.69 DNAI1 DNAH5
22 cardiac muscle cell differentiation GO:0055007 9.69 TBX5 NKX2-5
23 activin receptor signaling pathway GO:0032924 9.68 BMP10 ACVR2B
24 positive regulation of cell-cell adhesion GO:0022409 9.68 NODAL CITED2
25 trophectodermal cell differentiation GO:0001829 9.68 NODAL CITED2
26 cardiac septum morphogenesis GO:0060411 9.67 DNAH11 CITED2
27 left/right axis specification GO:0070986 9.67 PITX2 CITED2
28 adult heart development GO:0007512 9.66 NKX2-5 BMP10
29 cardiac muscle tissue morphogenesis GO:0055008 9.66 TBX20 NKX2-5
30 endocardial cushion development GO:0003197 9.65 TBX5 CITED2
31 nodal signaling pathway GO:0038092 9.65 NODAL CFC1
32 epithelial cilium movement GO:0003351 9.65 DNAI1 DNAH5 DNAH11
33 ventricular cardiac muscle cell development GO:0055015 9.64 NKX2-5 BMP10
34 atrial septum development GO:0003283 9.63 TBX5 DAND5
35 determination of heart left/right asymmetry GO:0061371 9.63 DAND5 CITED2
36 embryonic heart tube development GO:0035050 9.63 TBX20 NODAL NKX2-5
37 BMP signaling pathway GO:0030509 9.63 NODAL LEFTY2 LEFTY1 GDF1 BMP10 ACVR2B
38 embryonic process involved in female pregnancy GO:0060136 9.61 NODAL CITED2
39 atrial septum morphogenesis GO:0060413 9.61 TBX5 TBX20 NKX2-5
40 heart development GO:0007507 9.61 TBX5 NODAL NKX2-5 DNAI1 DNAH5 DNAH11
41 positive regulation of cardioblast differentiation GO:0051891 9.6 TBX5 NKX2-5
42 positive regulation of activin receptor signaling pathway GO:0032927 9.59 NODAL ACVR2B
43 embryonic heart tube left/right pattern formation GO:0060971 9.58 PITX2 CITED2
44 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.54 NODAL CITED2
45 determination of left/right asymmetry in nervous system GO:0035545 9.49 ZIC3 DNAH11
46 determination of left/right symmetry GO:0007368 9.32 ZIC3 PITX2 NODAL LEFTY1 DNAI1 DNAH5

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.83 ZIC3 TBX5 TBX20 PITX2 NKX2-5
2 motor activity GO:0003774 9.54 DNAI1 DNAH5 DNAH11
3 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.4 DNAH5 DNAH11
4 cytokine activity GO:0005125 9.35 NODAL LEFTY2 LEFTY1 GDF1 BMP10
5 RNA polymerase II activating transcription factor binding GO:0001102 9.33 TBX20 PITX2 CITED2
6 transforming growth factor beta receptor binding GO:0005160 9.32 LEFTY2 LEFTY1
7 morphogen activity GO:0016015 9.26 NODAL DAND5
8 growth factor activity GO:0008083 9.02 NODAL LEFTY2 LEFTY1 GDF1 BMP10
Sources

Sources for Right Atrial Isomerism

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....