RAI
MCID: RGH009
MIFTS: 60

Right Atrial Isomerism (RAI)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Right Atrial Isomerism

MalaCards integrated aliases for Right Atrial Isomerism:

Name: Right Atrial Isomerism 57 11 73 28 5 14 71 75
Ivemark Syndrome 57 11 19 58 75 73
Asplenia with Cardiovascular Anomalies 57 11 19 73 75
Asplenia Syndrome 19 71 33
Asplenia 75 28 5
Rai 57 58 73
Splenic Agenesis Syndrome 19 33
Right Isomerism 57 33
Heterotaxy, Visceroatrial, Autosomal Recessive 73
Isomerism of Right Atrial Appendage 58
Bilateral Right-Sidedness Sequence 19
Right Sided Atrial Isomerism 58
Congenital Absence of Spleen 71
Bilateral Right-Sidedness 33
Vah, Autosomal Recessive 73
Atrial Isomerism, Right 38
Polyasplenia 73

Characteristics:


Inheritance:

Right Atrial Isomerism: Autosomal recessive 57
Right Sided Atrial Isomerism: Autosomal recessive 58

Prevelance:

Right Sided Atrial Isomerism: 1-5/10000 (France) 58

Age Of Onset:

Right Sided Atrial Isomerism: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
cardiac failure at birth
poor outcome
one family with confirmed genetic basis has been reported (last curated september 2013)


Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Right Atrial Isomerism

OMIM®: 57 Right atrial isomerism (RAI) 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 08-Dec-2022)

MalaCards based summary: Right Atrial Isomerism, also known as ivemark syndrome, is related to heart septal defect and congenital heart defects, multiple types, 6. An important gene associated with Right Atrial Isomerism is GDF1 (Growth Differentiation Factor 1), and among its related pathways/superpathways are Nervous system development and Beta-2 adrenergic-dependent CFTR expression. The drugs Lactitol and Complement System Proteins have been mentioned in the context of this disorder. Affiliated tissues include spleen, heart and liver, and related phenotypes are inguinal hernia and tetralogy of fallot

Orphanet: 58 A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor.

GARD: 19 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. The exact cause of Ivemark syndrome is not known. Most cases are sporadic (isolated and seemingly random). Unlike some other heterotaxy disorders, causative gene genetic changes have not been identified.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Wikipedia 75 Asplenia: Asplenia refers to the absence of normal spleen function and is associated with some serious infection... more...

Ivemark syndrome: 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 413)
# Related Disease Score Top Affiliating Genes
1 heart septal defect 30.9 ZIC3 PITX2 NODAL NKX2-5 LEFTY2 CITED2
2 congenital heart defects, multiple types, 6 30.9 GDF1 CERS1
3 conotruncal heart malformations 30.8 NKX2-5 GDF1
4 dextrocardia 30.7 ZIC3 NODAL DNAI1 DNAH5 DNAH11 ACVR2B
5 atrioventricular septal defect 30.7 ZIC3 PITX2 NR2F2 NODAL NKX2-5 LEFTY2
6 epilepsy, progressive myoclonic, 8 30.6 GDF1 CERS1
7 dextrocardia with situs inversus 30.5 NODAL DNAH11 CITED2
8 ventricular septal defect 30.5 ZIC3 PITX2 NR2F2 NODAL NKX2-5 LEFTY2
9 total anomalous pulmonary venous return 1 30.5 ZIC3 NODAL NKX2-5 CFC1
10 transposition of the great arteries, dextro-looped 30.3 ZIC3 PITX2 NODAL NKX2-5 GDF1 DNAI1
11 pulmonary valve stenosis 30.3 ZIC3 NKX2-5 CFC1
12 pulmonic stenosis 30.3 ZIC3 NR2F2
13 ciliary dyskinesia, primary, 1 30.3 DNAI1 DNAH5 DNAH11
14 patent ductus arteriosus 1 30.3 ZIC3 PITX2 NODAL NKX2-5 LEFTY2 CFC1
15 pancreas, annular 30.3 ZIC3 NODAL LEFTY1 CFC1
16 kartagener syndrome 30.2 LEFTY2 DNAI1 DNAH5 DNAH11
17 double outlet right ventricle 30.1 ZIC3 PITX2 NR2F2 NODAL NKX2-5 LEFTY2
18 duodenal atresia 30.1 ZIC3 NODAL GUCY2C CFC1 C12orf60
19 atrial heart septal defect 30.1 ZIC3 PITX2 NODAL NKX2-5 LEFTY2 CITED2
20 visceral heterotaxy 30.0 ZIC3 PITX2 NODAL NKX2-5 NEK8 LEFTY2
21 hypoplastic left heart syndrome 29.8 ZIC3 NR2F2 NODAL NKX2-5 CFC1
22 heart disease 29.6 ZIC3 PITX2 NR2F2 NODAL NKX2-5 GDF1
23 tetralogy of fallot 29.6 ZIC3 PITX2 NR2F2 NODAL NKX2-5 LEFTY2
24 situs inversus 29.5 ZIC3 PITX2 NODAL NEK8 LEFTY2 LEFTY1
25 primary ciliary dyskinesia 29.2 ZIC3 PITX2 NODAL NEK8 LEFTY2 LEFTY1
26 stormorken syndrome 11.6
27 heinz body anemias 11.5
28 asplenia, isolated congenital 11.2
29 heme oxygenase 1 deficiency 11.2
30 melanoma, uveal 2 11.1
31 diaphragmatic hernia-short bowel-asplenia syndrome 11.1
32 atrioventricular septal defect 4 11.0
33 atrioventricular septal defect 5 11.0
34 pregnancy loss, recurrent 1 10.9
35 pregnancy loss, recurrent 2 10.9
36 pregnancy loss, recurrent 3 10.9
37 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.9
38 microgastria-limb reduction defects association 10.9
39 cardiofacioneurodevelopmental syndrome 10.9
40 biliary atresia with splenic malformation syndrome 10.9
41 single ventricular heart 10.7
42 thyroid carcinoma 10.6
43 leukemia, chronic lymphocytic 10.5
44 chronic diarrhea due to guanylate cyclase 2c overactivity 10.4 GUCY2C C12orf60
45 diarrhea 6 10.4 GUCY2C C12orf60
46 isolated congenitally uncorrected transposition of the great arteries 10.4 ZIC3 GDF1 CFC1
47 haemophilus influenzae 10.3
48 differentiated thyroid carcinoma 10.3
49 meconium ileus 10.3 GUCY2C C12orf60
50 joubert syndrome 18 10.3 ZIC3 LEFTY2

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:

30 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 30 Very rare (1%) HP:0000023
2 tetralogy of fallot 30 Very rare (1%) HP:0001636
3 situs inversus totalis 30 Very rare (1%) HP:0001696
4 asplenia 30 Very rare (1%) HP:0001746
5 transposition of the great arteries 30 Very rare (1%) HP:0001669
6 common atrium 30 Very rare (1%) HP:0011565
7 total anomalous pulmonary venous return 30 Very rare (1%) HP:0005160
8 aortopulmonary collateral arteries 30 Very rare (1%) HP:0031834
9 agenesis of corpus callosum 30 HP:0001274
10 atrial septal defect 30 HP:0001631
11 ventricular septal defect 30 HP:0001629
12 pulmonic stenosis 30 HP:0001642
13 abnormal lung lobation 30 HP:0002101
14 polysplenia 30 HP:0001748
15 pulmonary artery atresia 30 HP:0004935
16 complete atrioventricular canal defect 30 HP:0001674
17 single ventricle 30 HP:0001750
18 right atrial isomerism 30 HP:0011536
19 abdominal situs ambiguus 30 HP:0031565

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
dextrocardia
anomalous pulmonary venous return
common atrium
right atrial isomerism
pulmonary stenosis
more
Abdomen Liver:
midline liver

Abdomen:
situs inversus
situs ambiguous

Abdomen Spleen:
asplenia

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

Clinical features from OMIM®:

208530 (Updated 08-Dec-2022)

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

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ACVR2B BMP10 C12orf60 CERS1 CFC1 CITED2
2 no effect GR00402-S-2 10.15 ACVR2B C12orf60 CERS1 CITED2 DAND5 DNAH11
3 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.98 ACVR2B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.98 ACVR2B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.98 LEFTY1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.98 ACVR2B LEFTY1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.98 ACVR2B DNAI1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.98 DNAI1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.98 DNAI1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.98 ACVR2B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.98 LEFTY1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.98 DNAI1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.98 LEFTY1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.98 LEFTY1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.98 ACVR2B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.98 DNAI1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.98 DNAI1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.98 DNAI1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.98 ACVR2B
20 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.98 LEFTY1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.98 ACVR2B

MGI Mouse Phenotypes related to Right Atrial Isomerism:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.47 ACVR2B BMP10 CERS1 CFC1 CITED2 DAND5
2 nervous system MP:0003631 10.36 ACVR2B CERS1 CITED2 DNAH5 DNAI1 GDF1
3 embryo MP:0005380 10.32 ACVR2B BMP10 CFC1 CITED2 DAND5 DNAH11
4 cardiovascular system MP:0005385 10.32 ACVR2B BMP10 CFC1 CITED2 DAND5 DNAH11
5 digestive/alimentary MP:0005381 10.27 CFC1 CITED2 DNAH11 DNAH5 GDF1 GUCY2C
6 liver/biliary system MP:0005370 10.25 ACVR2B CFC1 DNAH11 DNAH5 GDF1 GUCY2C
7 immune system MP:0005387 10.25 ACVR2B BMP10 CERS1 CFC1 CITED2 DNAH11
8 normal MP:0002873 10.21 BMP10 CITED2 DNAH11 DNAI1 GDF1 NKX2-5
9 cellular MP:0005384 10.18 ACVR2B BMP10 CERS1 DNAH11 DNAH5 DNAI1
10 renal/urinary system MP:0005367 10.14 ACVR2B BMP10 CITED2 DNAH11 DNAH5 GDF1
11 respiratory system MP:0005388 10.13 ACVR2B CFC1 CITED2 DAND5 DNAH11 DNAH5
12 craniofacial MP:0005382 10.09 CITED2 DNAH11 DNAH5 DNAI1 GDF1 NKX2-5
13 muscle MP:0005369 10.07 ACVR2B BMP10 DNAH11 NKX2-5 NODAL NR2F2
14 hematopoietic system MP:0005397 9.86 ACVR2B BMP10 C12orf60 CERS1 CFC1 CITED2
15 skeleton MP:0005390 9.85 ACVR2B CFC1 CITED2 DNAH11 DNAH5 DNAI1
16 mortality/aging MP:0010768 9.6 ACVR2B BMP10 CERS1 CFC1 CITED2 DAND5

Drugs & Therapeutics for Right Atrial Isomerism

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 2
4 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
5 Immunologic Factors Phase 2
6 Immunoglobulins Phase 2
7 Antibodies 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 Meningococcal B Vaccine Strategies Among Patients With Asplenia 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

Genetic Tests for Right Atrial Isomerism

Genetic tests related to Right Atrial Isomerism:

# Genetic test Affiliating Genes
1 Right Atrial Isomerism 28 GDF1
2 Asplenia 28

Anatomical Context for Right Atrial Isomerism

Organs/tissues related to Right Atrial Isomerism:

MalaCards : Spleen, Heart, Liver, Lung, Bone Marrow, Adrenal Gland, Bone

Publications for Right Atrial Isomerism

Articles related to Right Atrial Isomerism:

(show top 50) (show all 1468)
# Title Authors PMID Year
1
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 62 57 5
20413652 2010
2
Right atrial isomerism in four siblings. 62 57 5
14648004 2004
3
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 57 5
28991257 2017
4
Ivemark syndrome with asplenia in siblings. 62 57
9152295 1997
5
Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)]. 62 57
8834045 1996
6
Polyasplenia, caudal deficiency, and agenesis of the corpus callosum. 62 57
2012140 1991
7
Dextrocardia with and without situs viscerum inversus in two sibs. 62 57
3425603 1987
8
Sisters with polysplenia. 62 57
4003441 1985
9
Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes. 62 57
6638069 1983
10
Asplenia and polysplenia malformation complexes explained by abnormal embryonic body curvature. 62 57
6622295 1983
11
Ivemark syndrome in siblings. 62 57
7172476 1982
12
Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship. 62 57
7277426 1981
13
Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malformations in 60 cases withspecial reference to diagnosis and prognosis. 62 57
1191445 1975
14
Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs. 62 57
4774542 1973
15
SYNDROME OF CONGENITAL CARDIAC DISEASE WITH ASPLENIA. DISTINCTION FROM OTHER FORMS OF CONGENITAL CYANOTIC CARDIAC DISEASE. 62 57
14128648 1964
16
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 5
17924340 2007
17
connexin43 gene mutations and heterotaxy. 57
9443444 1998
18
Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects. 57
9201627 1997
19
Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. 57
9155619 1997
20
Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. 57
8873667 1996
21
Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. 57
7715640 1995
22
Familial situs inversus and congenital heart defects. 57
3674113 1987
23
Consanguinity and complex cardiac anomalies with situs ambiguus. 57
6712272 1984
24
Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. 57
6638068 1983
25
Familial splenic anomaly syndrome. 57
874654 1977
26
Congenital cardiac disease associated with polysplenia. A developmental complex of bilateral "left-sidedness". 57
6050934 1967
27
Infants of diabetic mothers. II. Studies on the electrolyte metabolism and the effects of starvation during the first days of life. 57
13292208 1955
28
Congenital absence of the spleen; syndrome with atrioventricularis and situs inversus; case reports and review of the literature. 57
14929628 1952
29
Invasive Pneumococcal Disease in High-risk Children: A 10-Year Retrospective Study. 62
36450100 2023
30
Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry. 62
35995687 2022
31
Successful biventricular repair in a 14-year-old patient of asplenia with congenital heart disease syndrome. 62
36378927 2022
32
Asplenia and spleen hypofunction. 62
36329079 2022
33
Patients' with asplenia and doctors' experiences in implementing preventative measures following a novel educational intervention: a qualitative analysis. 62
36351729 2022
34
Asplenia and spleen hypofunction. 62
36329072 2022
35
[Hyposplenism, an underrecognised immune diffeciency: Is sonography helpful?] 62
36413992 2022
36
Clinical implications of congenital interruption of inferior vena cava. 62
35135704 2022
37
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient. 62
35691949 2022
38
Vaccination status in patients at risk for invasive disease with encapsulated bacteria at a children's hospital in the City of Buenos Aires. 62
36287171 2022
39
Prenatal diagnosis of total anomalous pulmonary venous connection using 2D and HDlive flow combined with spatiotemporal image correlation. 62
36100867 2022
40
Intestinal microbiome changes in an infant with right atrial isomerism and recurrent necrotizing enterocolitis: A case report and review of literature. 62
36312470 2022
41
A multi-disciplinary, comprehensive approach to management of children with heterotaxy. 62
36085154 2022
42
Risk factors for mortality after cardiovascular surgery in patients with functional single ventricle and right isomerism. 62
35147681 2022
43
Two Cases of Interrupted Inferior Vena Cava with Azygos / Hemiazygos Continuation. 62
36210661 2022
44
Fatal Babesiosis in an Immunocompetent Patient. 62
35881994 2022
45
Isolated congenital asplenia: An overlooked cause of thrombocytosis. 62
35266186 2022
46
Pneumococcal vaccination coverage among adults newly diagnosed with underlying medical conditions and regional variation in the U.S. 62
35803847 2022
47
Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach. 62
35690244 2022
48
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes. 62
35474353 2022
49
Impact of gastrointestinal comorbidities in patients with right and left atrial isomerism. 62
34470692 2022
50
Trust the Process: Prolonged Babesia Parasitemia in an Elderly Man with Asplenia from the American Midwest. 62
35844076 2022

Variations for Right Atrial Isomerism

ClinVar genetic disease variations for Right Atrial Isomerism:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C12orf60, GUCY2C NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser) SNV Pathogenic
375380 rs1057519441 GRCh37: 12:14836177-14836177
GRCh38: 12:14683243-14683243
2 CERS1, GDF1 NM_001492.6(GDF1):c.1090_1092del (p.Met364del) DEL Pathogenic
522570 rs753643819 GRCh37: 19:18979433-18979435
GRCh38: 19:18868624-18868626
3 CERS1, GDF1 NM_001492.6(GDF1):c.909dup (p.Val304fs) DUP Pathogenic
65389 rs606231383 GRCh37: 19:18979615-18979616
GRCh38: 19:18868806-18868807
4 CERS1, GDF1 NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) SNV Pathogenic
6747 rs121434422 GRCh37: 19:18979844-18979844
GRCh38: 19:18869035-18869035
5 NR2F2 NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr) SNV Likely Pathogenic
128232 rs587777371 GRCh37: 15:96880628-96880628
GRCh38: 15:96337399-96337399

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
13.33 ZIC3 NR2F2 NODAL LEFTY2 LEFTY1 GDF1
2
Show member pathways
12.26 NODAL LEFTY2 LEFTY1 ACVR2B
3
Show member pathways
12.08 NKX2-5 LEFTY2 LEFTY1 CFC1 BMP10 ACVR2B
4 11.6 ZIC3 PITX2 NODAL LEFTY2 LEFTY1 ACVR2B
5 11.1 PITX2 NKX2-5 BMP10
6 10.78 NKX2-5 BMP10
7
Show member pathways
10.69 NODAL LEFTY2 LEFTY1 GDF1 DAND5 CFC1
8 10.6 NR2F2 LEFTY1

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 outer dynein arm GO:0036157 9.56 DNAI1 DNAH5
2 9+0 motile cilium GO:0097728 9.46 DNAH5 DNAH11
3 dynein complex GO:0030286 9.35 DNAI1 DNAH5 DNAH11
4 9+2 motile cilium GO:0097729 9.1 DNAI1 DNAH5 DNAH11

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 heart looping GO:0001947 10.06 ZIC3 NODAL NKX2-5 CITED2
2 cilium movement GO:0003341 10.03 DNAI1 DNAH5 DNAH11
3 spleen development GO:0048536 10.02 CITED2 NKX2-5 PITX2
4 SMAD protein signal transduction GO:0060395 10.02 NODAL LEFTY2 LEFTY1 GDF1 BMP10
5 anterior/posterior pattern specification GO:0009952 10.01 ACVR2B CFC1 NODAL NR2F2 ZIC3
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.96 NODAL LEFTY2 LEFTY1 GDF1 BMP10
7 BMP signaling pathway GO:0030509 9.93 ACVR2B BMP10 GDF1 LEFTY1 LEFTY2 NODAL
8 adult heart development GO:0007512 9.92 NKX2-5 BMP10
9 maternal placenta development GO:0001893 9.91 NR2F2 NODAL
10 left/right axis specification GO:0070986 9.91 ZIC3 PITX2 CITED2
11 ventricular cardiac muscle cell development GO:0055015 9.89 BMP10 NKX2-5
12 epithelial cilium movement involved in extracellular fluid movement GO:0003351 9.89 DNAI1 DNAH5 DNAH11
13 heart development GO:0007507 9.89 ACVR2B BMP10 CFC1 CITED2 DNAH11 DNAH5
14 embryonic process involved in female pregnancy GO:0060136 9.88 NODAL CITED2
15 positive regulation of activin receptor signaling pathway GO:0032927 9.87 NODAL ACVR2B
16 embryonic heart tube left/right pattern formation GO:0060971 9.85 PITX2 NKX2-5 CITED2
17 atrial cardiac muscle tissue development GO:0003228 9.84 ZIC3 NKX2-5
18 gastrulation GO:0007369 9.83 ZIC3 NODAL CFC1
19 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.81 NODAL CITED2
20 primitive streak formation GO:0090009 9.79 ZIC3 NODAL
21 nodal signaling pathway GO:0038092 9.78 NODAL CFC1
22 determination of left/right asymmetry in nervous system GO:0035545 9.78 DNAH11 ZIC3
23 left/right pattern formation GO:0060972 9.77 ZIC3 CITED2
24 determination of heart left/right asymmetry GO:0061371 9.76 DAND5 CITED2
25 determination of left/right symmetry GO:0007368 9.66 ZIC3 PITX2 NODAL NEK8 LEFTY1 DNAI1

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 9.65 NODAL LEFTY2 LEFTY1 GDF1 BMP10
2 transforming growth factor beta receptor binding GO:0005160 9.56 LEFTY2 LEFTY1
3 morphogen activity GO:0016015 9.46 NODAL DAND5
4 growth factor activity GO:0008083 9.32 NODAL LEFTY2 LEFTY1 GDF1 BMP10

Sources for Right Atrial Isomerism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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