MCID: DXT002
MIFTS: 47

Dextrocardia with Situs Inversus

Categories: Cardiovascular diseases, Fetal diseases, Liver diseases, Rare diseases
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Aliases & Classifications for Dextrocardia with Situs Inversus

MalaCards integrated aliases for Dextrocardia with Situs Inversus:

Name: Dextrocardia with Situs Inversus 19 75 75
Situs Inversus Totalis 19 58 5
Complete Situs Inversus Viscerum 58
Complete Situs Inversus 58
Situs Inversus 58

Characteristics:


Inheritance:

Situs Inversus Totalis: Autosomal dominant,Autosomal recessive 58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 32 Q89.3
UMLS via Orphanet 72 C0037221
Orphanet 58 ORPHA101063

Summaries for Dextrocardia with Situs Inversus

GARD: 19 Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome).

MalaCards based summary: Dextrocardia with Situs Inversus, also known as situs inversus totalis, is related to ciliary dyskinesia, primary, 7 and ciliary dyskinesia, primary, 4. An important gene associated with Dextrocardia with Situs Inversus is PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways is Ciliopathies. The drugs Nitric Oxide and Bronchodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and spleen, and related phenotypes are growth/size/body region and embryo

Orphanet: 58 A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.

Wikipedia: 75 Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major... more...

Related Diseases for Dextrocardia with Situs Inversus

Diseases related to Dextrocardia with Situs Inversus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 666)
# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 7 32.2 DNAH11 CDCA7L
2 ciliary dyskinesia, primary, 4 32.1 DNAH11 CCDC103
3 ciliary dyskinesia, primary, 8 31.9 DNAH11 CCDC103
4 right atrial isomerism 31.4 NODAL DNAH9 DNAH11 CITED2
5 dextrocardia 31.3 NODAL DNAH11 CFAP53
6 heterotaxy, visceral, 9, autosomal, with male infertility 31.3 TEX9 MNS1
7 ciliary dyskinesia, primary, 1 30.1 DNAH11 CCDC103
8 transposition of the great arteries, dextro-looped 30.0 PKD1L1 NODAL CITED2
9 kartagener syndrome 30.0 DNAH9 DNAH11 CCDC103
10 polycystic kidney disease 2 with or without polycystic liver disease 29.7 PKD1L1 MNS1
11 situs inversus 28.6 TEX9 PKD1L1 NODAL NME7 MNS1 DNAH9
12 visceral heterotaxy 28.3 PKD1L1 NODAL NME7 MNS1 MMP21 DNAH9
13 primary ciliary dyskinesia 27.7 PKD1L1 NODAL NME7 MNS1 MMP21 DNAH9
14 ciliary dyskinesia, primary, 3 11.7
15 retinitis pigmentosa 82 with or without situs inversus 11.7
16 agnathia-otocephaly complex 11.7
17 ciliary dyskinesia, primary, 28 11.7
18 ciliary dyskinesia, primary, 5 11.7
19 ciliary dyskinesia, primary, 9 11.7
20 ciliary dyskinesia, primary, 18 11.7
21 ciliary dyskinesia, primary, 23 11.7
22 ciliary dyskinesia, primary, 20 11.7
23 ciliary dyskinesia, primary, 40 11.7
24 ciliary dyskinesia, primary, 10 11.7
25 ciliary dyskinesia, primary, 16 11.7
26 ciliary dyskinesia, primary, 17 11.7
27 ciliary dyskinesia, primary, 19 11.7
28 ciliary dyskinesia, primary, 25 11.7
29 ciliary dyskinesia, primary, 26 11.7
30 ciliary dyskinesia, primary, 27 11.7
31 ciliary dyskinesia, primary, 35 11.7
32 ciliary dyskinesia, primary, 29 11.6
33 ciliary dyskinesia, primary, 2 11.6
34 ciliary dyskinesia, primary, 11 11.6
35 ciliary dyskinesia, primary, 12 11.6
36 ciliary dyskinesia, primary, 13 11.6
37 ciliary dyskinesia, primary, 14 11.6
38 ciliary dyskinesia, primary, 15 11.6
39 ciliary dyskinesia, primary, 21 11.6
40 ciliary dyskinesia, primary, 22 11.6
41 ciliary dyskinesia, primary, 30 11.6
42 ciliary dyskinesia, primary, 38 11.6
43 ciliary dyskinesia, primary, 39 11.6
44 ciliary dyskinesia, primary, 43 11.6
45 ciliary dyskinesia, primary, 44 11.6
46 ciliary dyskinesia, primary, 36, x-linked 11.6
47 ciliary dyskinesia, primary, 24 11.6
48 ciliary dyskinesia, primary, 37 11.6
49 hypoglossia with situs inversus 11.5
50 ciliary dyskinesia, primary, 48, without situs inversus 11.5

Graphical network of the top 20 diseases related to Dextrocardia with Situs Inversus:



Diseases related to Dextrocardia with Situs Inversus

Symptoms & Phenotypes for Dextrocardia with Situs Inversus

MGI Mouse Phenotypes related to Dextrocardia with Situs Inversus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10 ANKS3 CDCA7L CFAP53 CITED2 DNAH11 DNAH9
2 embryo MP:0005380 9.7 ANKS3 CFAP53 CITED2 DNAH11 NME7 NODAL
3 respiratory system MP:0005388 9.65 ANKS3 CFAP53 CITED2 DNAH11 DNAH9 MMP21
4 reproductive system MP:0005389 9.23 BRWD1 CFAP53 DNAH11 DNAH9 MNS1 NME7

Drugs & Therapeutics for Dextrocardia with Situs Inversus

Drugs for Dextrocardia with Situs Inversus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 3 10102-43-9 145068
2 Bronchodilator Agents Phase 3
3 Protective Agents Phase 3
4 Endothelium-Dependent Relaxing Factors Phase 3
5 Respiratory System Agents Phase 3
6 Antioxidants Phase 3
7 Anti-Asthmatic Agents Phase 3
8 Vasodilator Agents Phase 3
9 Neurotransmitter Agents Phase 3
10
Mechlorethamine Approved, Investigational 51-75-2 4033
11 3-Iodobenzylguanidine
12 Pharmaceutical Solutions

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Randomised Controlled Trial of Nitric Oxide Administration During Cardiopulmonary Bypass in Infants Undergoing Arterial Switch Operation for Repair of Transposition of the Great Arteries Unknown status NCT03661385 Phase 3 Nitric Oxide
2 A Retrospective Comparison of the Efficacy and Safety of Celsior® in Pediatric Cardiac Surgery for Transposition of the Great Vessels Unknown status NCT04616222 CELSIOR® group;Saint-Thomas group
3 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
4 Characterization of the Cardiac Reinnervation of Patients With Transposition of the Great Arteries Long After Repair With the Arterial Switch Operation. Correlation With Electrocardiographic and Exercise Test Parameters Completed NCT03469843
5 Influence of Timing of Switch Operation in Transposition of Great Arteries Completed NCT05160116
6 Late Function After Surgery for Transposition of the Great Arteries Completed NCT03078413
7 Outcomes of Transposition of the Great Arteries After Arterial Switch Operation: a Dual-center Study Completed NCT05089773
8 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
9 Transposition of the Great Arteries: Prenatal Anatomical and Hemodynamic Findings Associated With Perinatal Outcomes Recruiting NCT03771534 Oxygen gas
10 Measurement of the Prevalence of Sensory Integration Disorders in Babies Having Heart Disease Surgery for Transposition of the Great Vessels Before 6 Months of Age Recruiting NCT05137873
11 Cardiac Resynchronization Therapy in Adult Congenital Heart Disease With Systemic Right Ventricle: A Cross-Over Trial Not yet recruiting NCT05524324
12 Clinical Impact of Rapid Prototyping 3D Models of Congenital Heart Disease on Surgical Management Withdrawn NCT04788082

Search NIH Clinical Center for Dextrocardia with Situs Inversus

Genetic Tests for Dextrocardia with Situs Inversus

Anatomical Context for Dextrocardia with Situs Inversus

Organs/tissues related to Dextrocardia with Situs Inversus:

MalaCards : Heart, Liver, Spleen, Lung, Colon, Appendix, Kidney

Publications for Dextrocardia with Situs Inversus

Articles related to Dextrocardia with Situs Inversus:

(show top 50) (show all 2929)
# Title Authors PMID Year
1
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 62 5
27616478 2016
2
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient. 62
35691949 2022
3
Progress in diagnosis of primary ciliary dyskinesia. 62
36069395 2022
4
Surgical challenges during open pancreaticoduodenectomy in a patient with situs inversus totalis: A rare case report and literature review. 62
36268427 2022
5
A rare cause of syncope in patients with situs inversus totalis and corrected transposition of the great arteries: Very late lead perforation. 62
35583744 2022
6
Laparoscopic cholecystectomy in a patient with situs inversus totalis. 62
36243675 2022
7
Laparoscopic distal gastrectomy for gastric cancer in a patient with situs inversus: a case report. 62
36205851 2022
8
Challenges of emergency enbloc laparoscopic proximal hemicolectomy and cholecystectomy in situs inversus totalis. 62
35441785 2022
9
ERCP and EUS technique in situs inversus totalis: preparing for a left-sided plot twist. 62
36238805 2022
10
Robotic distal gastrectomy for gastric cancer in a patient with situs inversus totalis and a vascular anomaly. 62
36186219 2022
11
Robotic-assisted pulmonary lobectomy with lung cancer in a patient with situs inversus totalis. 62
36050769 2022
12
"Reverse life": A rare case report of situs inversus totalis combined with cardiac abnormalities in a young stroke. 62
35702947 2022
13
Left Bundle Area Pacing for Tachycardia-Bradycardia Syndrome in a Patient With Dextrocardia. 62
36213881 2022
14
Rare presentation of central retinal vein occlusion sparing the superotemporal quadrant in a patient with congenital cardiovascular disease. 62
36127035 2022
15
Transapical transcatheter J-valve for aortic regurgitation in dextrocardia situs inversus. 62
35234054 2022
16
AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells. 62
36232425 2022
17
Laparoscopic distal gastrectomy for advanced gastric cancer with situs inversus totalis: a case report. 62
36163524 2022
18
Redo aortic valve surgery in a case of dextrocardia with situs inversus totalis. 62
36027831 2022
19
Sinistroposition: A case report on incidental finding of left sided gall bladder on laparoscopic cholecystectomy. 62
36147104 2022
20
Type II congenital pulmonary airway malformation with primary ciliary dyskinesia in a 4-year-old child: A case report. 62
36165169 2022
21
Primary Ciliary Dyskinesia: Phenotype Resulting From a Novel Variant of LRRC56 Gene. 62
36176820 2022
22
Pancreatoduodenectomy with portal vein resection for pancreatic body cancer in a patient with situs inversus totalis. 62
35839563 2022
23
Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease. 62
35050399 2022
24
Infantile hypertrophic pyloric stenosis, the cause of non-bilious vomiting of a 3-day-old male infant with situs inversus totalis: A case report. 62
35957763 2022
25
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes. 62
35474353 2022
26
A Case of Unusual Presentation of Kartagener's Syndrome in a 22-Year-Old Female Patient. 62
36134054 2022
27
Thoracoscopic AF ablation in situs inversus dextrocardia with interrupted inferior vena cava continuation in azygos vein. 62
35637597 2022
28
Laparoscopic Colectomy for a Patient with Situs Inversus Totalis: The Usefulness of Preoperative Assessment. 62
35869611 2022
29
Rare spontaneous monochorionic dizygotic twins: a case report and a systematic review. 62
35836143 2022
30
Laparoscopic Roux-en-Y gastric bypass in a patient with situs inversus totalis: case report. 62
35892124 2022
31
Da Vinci robot-assisted pancreato-duodenectomy in a patient with situs inversus totalis: A case report and review of literature. 62
36051094 2022
32
Left sided Amyand hernia - A case report. 62
35797875 2022
33
Indocyanine green fluorescence imaging-guided laparoscopy-assisted distal gastrectomy for early gastric cancer in a patient with situs inversus totalis: A case report with video. 62
35799403 2022
34
Analysis of outcomes in patients with abnormal laterality undergoing congenital heart surgery. 62
34593080 2022
35
Coronary Compression Following Percutaneous Pulmonary Valve Implantation Despite a Negative Balloon Sizing Test: Lessons Learnt From This Unusual Complication. 62
34426086 2022
36
Situs inversus totalis with local metastasis of gallbladder carcinoma and variation of the common hepatic artery. 62
35883027 2022
37
Bridge to second double lung transplant with an extracorporeal carbon dioxide removal system in situs inversus patient. 62
35411562 2022
38
Sleeve gastrectomy in a patient with situs inversus: a case report. 62
35919692 2022
39
Laparoscopic sleeve gastrectomy in a patient with Situs Inversus Totalis: A case report and literature review. 62
35860141 2022
40
Looking in a mirror, laparoscopic gastric sleeve in situs inversus patient: a case report. 62
35865255 2022
41
Morphometric characteristics of the aorta and heart in situs inversus totalis. 62
35773223 2022
42
Laparoscopic radical resection for situs inversus totalis with colonic splenic flexure carcinoma: A case report. 62
35812688 2022
43
Hepatocellular carcinoma with situs inversus totalis treated by caudate lobectomy: A case report. 62
35609476 2022
44
Torsion of wandering spleen after Fontan operation in a patient with situs inversus: a rare complication. 62
35656572 2022
45
Post-operative Morbidity and Mortality After Fontan Procedure in Patients with Heterotaxy and Other Situs Anomalies. 62
35064275 2022
46
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects. 62
35441720 2022
47
Patients with gastric volvulus recurrence have high incidence of wandering spleen requiring laparoscopic gastropexy and splenopexy. 62
35391540 2022
48
Persistent left superior vena cava-An alternative feasible technique during Senning procedure. 62
35279876 2022
49
Congenital tuberculosis with tuberculous meningitis and situs inversus totalis: A case report. 62
35812650 2022
50
Laparoscopic anterior resection for patients with rectosigmoid cancer in situs inversus totalis - a video vignette. 62
35068038 2022

Variations for Dextrocardia with Situs Inversus

ClinVar genetic disease variations for Dextrocardia with Situs Inversus:

5 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC103 NM_213607.3(CCDC103):c.568_569dup (p.Ser190fs) MICROSAT Pathogenic
455029 rs746242380 GRCh37: 17:42980013-42980014
GRCh38: 17:44902645-44902646
2 PKD1L1 NM_138295.5(PKD1L1):c.6473+2_6473+3del DEL Pathogenic
235796 rs528302390 GRCh37: 7:47870812-47870813
GRCh38: 7:47831214-47831215
3 PKD1L1 NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser) SNV Likely Pathogenic
235198 rs886037834 GRCh37: 7:47886558-47886558
GRCh38: 7:47846960-47846960
4 MNS1, TEX9 NM_018365.4(MNS1):c.407_410del (p.Glu136fs) MICROSAT Likely Pathogenic
635005 rs1596264554 GRCh37: 15:56739085-56739088
GRCh38: 15:56446887-56446890
5 BRWD1 NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu) SNV Likely Pathogenic
982437 GRCh37: 21:40570769-40570769
GRCh38: 21:39198843-39198843
6 DNAH11 NM_001277115.2(DNAH11):c.3253C>T (p.Gln1085Ter) SNV Likely Pathogenic
1678873 GRCh37: 7:21640546-21640546
GRCh38: 7:21600928-21600928
7 CDCA7L, DNAH11 NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs) DEL Likely Pathogenic
1678874 GRCh37: 7:21940663-21940684
GRCh38: 7:21901045-21901066
8 CFAP52 NM_145054.5(CFAP52):c.1752G>A (p.Val584=) SNV Uncertain Significance
544337 rs1555545305 GRCh37: 17:9546404-9546404
GRCh38: 17:9643087-9643087
9 CFAP52 NM_145054.5(CFAP52):c.199G>A (p.Val67Ile) SNV Uncertain Significance
544338 rs201479202 GRCh37: 17:9489218-9489218
GRCh38: 17:9585901-9585901
10 CFAP52 NM_145054.5(CFAP52):c.1492A>G (p.Met498Val) SNV Uncertain Significance
573466 rs765338836 GRCh37: 17:9541945-9541945
GRCh38: 17:9638628-9638628
11 CFAP52 NM_145054.5(CFAP52):c.1625G>A (p.Gly542Asp) SNV Uncertain Significance
574037 rs552119987 GRCh37: 17:9545090-9545090
GRCh38: 17:9641773-9641773
12 CFAP52 NM_145054.5(CFAP52):c.1404G>T (p.Arg468Ser) SNV Uncertain Significance
581962 rs775063335 GRCh37: 17:9538805-9538805
GRCh38: 17:9635488-9635488
13 CFAP52 NM_145054.5(CFAP52):c.1430T>C (p.Val477Ala) SNV Uncertain Significance
582339 rs77840450 GRCh37: 17:9538831-9538831
GRCh38: 17:9635514-9635514
14 BRWD1 NM_033656.4(BRWD1):c.1016T>C (p.Leu339Ser) SNV Uncertain Significance
982514 GRCh37: 21:40649265-40649265
GRCh38: 21:39277339-39277339
15 CFAP52 NM_145054.5(CFAP52):c.1304del (p.Gly435fs) DEL Uncertain Significance
1285595 GRCh37: 17:9536333-9536333
GRCh38: 17:9633016-9633016
16 CFAP52 NM_145054.5(CFAP52):c.1592T>C (p.Val531Ala) SNV Uncertain Significance
1369782 GRCh37: 17:9545057-9545057
GRCh38: 17:9641740-9641740
17 CFAP52 NM_145054.5(CFAP52):c.1027G>A (p.Gly343Ser) SNV Uncertain Significance
1510687 GRCh37: 17:9531990-9531990
GRCh38: 17:9628673-9628673
18 CFAP52 NM_145054.5(CFAP52):c.189delinsAGCA (p.His63delinsGlnAla) INDEL Uncertain Significance
641856 rs1597763121 GRCh37: 17:9489208-9489208
GRCh38: 17:9585891-9585891
19 CFAP52 NM_145054.5(CFAP52):c.509G>A (p.Arg170Gln) SNV Uncertain Significance
969026 rs34653219 GRCh37: 17:9497611-9497611
GRCh38: 17:9594294-9594294
20 CFAP52 NM_145054.5(CFAP52):c.734C>T (p.Ala245Val) SNV Uncertain Significance
1001316 rs146845939 GRCh37: 17:9503481-9503481
GRCh38: 17:9600164-9600164
21 BRWD1 NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser) SNV Uncertain Significance
982435 GRCh37: 21:40684799-40684799
GRCh38: 21:39312873-39312873
22 BRWD1 NM_033656.4(BRWD1):c.523C>T (p.His175Tyr) SNV Uncertain Significance
982436 GRCh37: 21:40667755-40667755
GRCh38: 21:39295829-39295829
23 CFAP52 NM_145054.5(CFAP52):c.771G>T (p.Arg257Ser) SNV Uncertain Significance
645178 rs1389914976 GRCh37: 17:9511453-9511453
GRCh38: 17:9608136-9608136
24 CFAP52 NM_145054.5(CFAP52):c.1780C>T (p.Arg594Cys) SNV Uncertain Significance
841069 rs200319536 GRCh37: 17:9546432-9546432
GRCh38: 17:9643115-9643115
25 CFAP52 NM_145054.5(CFAP52):c.482C>A (p.Ala161Asp) SNV Uncertain Significance
841952 rs147354190 GRCh37: 17:9497584-9497584
GRCh38: 17:9594267-9594267
26 CFAP52 NM_145054.5(CFAP52):c.969A>T (p.Lys323Asn) SNV Uncertain Significance
861945 rs767468275 GRCh37: 17:9515740-9515740
GRCh38: 17:9612423-9612423
27 CFAP52 NM_145054.5(CFAP52):c.121T>C (p.Tyr41His) SNV Uncertain Significance
942263 rs371902741 GRCh37: 17:9489140-9489140
GRCh38: 17:9585823-9585823
28 CFAP52 NM_145054.5(CFAP52):c.439G>A (p.Ala147Thr) SNV Uncertain Significance
962973 rs748587285 GRCh37: 17:9497541-9497541
GRCh38: 17:9594224-9594224
29 CFAP52 NM_145054.5(CFAP52):c.1106G>A (p.Arg369Gln) SNV Uncertain Significance
1038824 rs141646758 GRCh37: 17:9532069-9532069
GRCh38: 17:9628752-9628752
30 CFAP52 NM_145054.5(CFAP52):c.1601G>C (p.Gly534Ala) SNV Uncertain Significance
1054061 GRCh37: 17:9545066-9545066
GRCh38: 17:9641749-9641749
31 CFAP52 NM_145054.5(CFAP52):c.1442C>G (p.Thr481Ser) SNV Uncertain Significance
565466 rs142289033 GRCh37: 17:9538843-9538843
GRCh38: 17:9635526-9635526
32 CFAP52 NM_145054.5(CFAP52):c.531T>A (p.Ala177=) SNV Uncertain Significance
1394379 GRCh37: 17:9497633-9497633
GRCh38: 17:9594316-9594316
33 CFAP52 NM_145054.5(CFAP52):c.1652T>C (p.Met551Thr) SNV Uncertain Significance
1416427 GRCh37: 17:9545117-9545117
GRCh38: 17:9641800-9641800
34 CFAP52 NM_145054.5(CFAP52):c.244G>A (p.Gly82Arg) SNV Uncertain Significance
1419105 GRCh37: 17:9489263-9489263
GRCh38: 17:9585946-9585946
35 CFAP52 NM_145054.5(CFAP52):c.536+1G>T SNV Uncertain Significance
1443577 GRCh37: 17:9497639-9497639
GRCh38: 17:9594322-9594322
36 CFAP52 NM_145054.5(CFAP52):c.751T>C (p.Leu251=) SNV Likely Benign
1453935 GRCh37: 17:9503498-9503498
GRCh38: 17:9600181-9600181
37 CFAP52 NM_145054.5(CFAP52):c.1772C>T (p.Thr591Ile) SNV Likely Benign
707582 rs112783393 GRCh37: 17:9546424-9546424
GRCh38: 17:9643107-9643107
38 CFAP52 NM_145054.5(CFAP52):c.214A>G (p.Ile72Val) SNV Likely Benign
707393 rs112544398 GRCh37: 17:9489233-9489233
GRCh38: 17:9585916-9585916
39 CFAP52 NM_145054.5(CFAP52):c.1613G>C (p.Arg538Thr) SNV Likely Benign
791562 rs140641061 GRCh37: 17:9545078-9545078
GRCh38: 17:9641761-9641761
40 CFAP52 NM_145054.5(CFAP52):c.873C>T (p.Gly291=) SNV Likely Benign
798153 rs762482958 GRCh37: 17:9515644-9515644
GRCh38: 17:9612327-9612327
41 CFAP52 NM_145054.5(CFAP52):c.537-18T>G SNV Likely Benign
1667783 GRCh37: 17:9501533-9501533
GRCh38: 17:9598216-9598216
42 CFAP52 NM_145054.5(CFAP52):c.936G>A (p.Ser312=) SNV Likely Benign
1092021 GRCh37: 17:9515707-9515707
GRCh38: 17:9612390-9612390
43 CFAP52 NM_145054.5(CFAP52):c.243C>T (p.Ser81=) SNV Likely Benign
1092347 GRCh37: 17:9489262-9489262
GRCh38: 17:9585945-9585945
44 CFAP52 NM_145054.5(CFAP52):c.138A>G (p.Thr46=) SNV Likely Benign
1098993 GRCh37: 17:9489157-9489157
GRCh38: 17:9585840-9585840
45 CFAP52 NM_145054.5(CFAP52):c.1701T>C (p.His567=) SNV Likely Benign
749939 rs776124001 GRCh37: 17:9546353-9546353
GRCh38: 17:9643036-9643036
46 CFAP52 NM_145054.5(CFAP52):c.1257C>T (p.Gly419=) SNV Likely Benign
1119510 GRCh37: 17:9536287-9536287
GRCh38: 17:9632970-9632970
47 CFAP52 NM_145054.5(CFAP52):c.458C>T (p.Ala153Val) SNV Likely Benign
707153 rs77839011 GRCh37: 17:9497560-9497560
GRCh38: 17:9594243-9594243
48 CFAP52 NM_145054.5(CFAP52):c.788G>A (p.Gly263Asp) SNV Likely Benign
707233 rs139646620 GRCh37: 17:9511470-9511470
GRCh38: 17:9608153-9608153
49 CFAP52 NM_145054.5(CFAP52):c.1369C>T (p.Leu457=) SNV Benign
707357 rs140517505 GRCh37: 17:9538770-9538770
GRCh38: 17:9635453-9635453
50 CFAP52 NM_145054.5(CFAP52):c.1065T>C (p.Asp355=) SNV Benign
707484 rs57960962 GRCh37: 17:9532028-9532028
GRCh38: 17:9628711-9628711

Expression for Dextrocardia with Situs Inversus

Search GEO for disease gene expression data for Dextrocardia with Situs Inversus.

Pathways for Dextrocardia with Situs Inversus

Pathways related to Dextrocardia with Situs Inversus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.15 PKD1L1 NME7 CFAP53 CFAP52 CCDC103 ANKS3

GO Terms for Dextrocardia with Situs Inversus

Cellular components related to Dextrocardia with Situs Inversus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motile cilium GO:0031514 9.97 MNS1 DNAH9 DNAH11 CFAP52 CCDC103
2 axoneme GO:0005930 9.96 CCDC103 CFAP52 DNAH11 DNAH9 MNS1
3 cytoskeleton GO:0005856 9.91 NME7 MNS1 DNAH9 DNAH11 CFAP53 CFAP52
4 9+2 motile cilium GO:0097729 9.85 DNAH9 DNAH11 CFAP52
5 axonemal microtubule GO:0005879 9.76 NME7 MNS1 CFAP53 CFAP52
6 outer dynein arm GO:0036157 9.71 DNAH9 CCDC103
7 cell projection GO:0042995 9.61 PKD1L1 NME7 MNS1 DNAH9 DNAH11 CFAP53
8 cilium GO:0005929 9.32 PKD1L1 MNS1 DNAH9 DNAH11 CFAP53 CFAP52

Biological processes related to Dextrocardia with Situs Inversus according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 heart looping GO:0001947 9.91 NODAL CITED2 CCDC103
2 embryonic placenta development GO:0001892 9.84 NODAL CITED2
3 positive regulation of cell-cell adhesion GO:0022409 9.8 NODAL CITED2
4 left/right axis specification GO:0070986 9.73 PKD1L1 MNS1 CITED2
5 epithelial cilium movement involved in extracellular fluid movement GO:0003351 9.7 DNAH11 CCDC103
6 vasculature development GO:0001944 9.69 NODAL CITED2
7 embryonic process involved in female pregnancy GO:0060136 9.67 NODAL CITED2
8 trophectodermal cell differentiation GO:0001829 9.65 NODAL CITED2
9 cardiac septum morphogenesis GO:0060411 9.63 DNAH11 CITED2
10 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.63 DNAH11 CFAP53 CCDC103
11 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.62 CITED2 NODAL
12 determination of heart left/right asymmetry GO:0061371 9.58 MMP21 CITED2
13 cilium movement GO:0003341 9.56 DNAH9 DNAH11 CFAP53 CCDC103
14 determination of left/right symmetry GO:0007368 9.36 NODAL MMP21 DNAH11 CITED2 CFAP53 CCDC103

Molecular functions related to Dextrocardia with Situs Inversus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light intermediate chain binding GO:0051959 9.26 DNAH9 DNAH11
2 minus-end-directed microtubule motor activity GO:0008569 8.92 DNAH9 DNAH11

Sources for Dextrocardia with Situs Inversus

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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