Dextrocardia with Situs Inversus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

Sources

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:

Sources

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

Sources

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

Sources

Genetic Tests for Dextrocardia with Situs Inversus

Sources

Anatomical Context for Dextrocardia with Situs Inversus

Organs/tissues related to Dextrocardia with Situs Inversus:

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

Sources

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	Vetrini F...Yang Y	27616478	2016
2	A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient. ⁶²	Gu H...Tan ZP	35691949	2022
3	Progress in diagnosis of primary ciliary dyskinesia. ⁶²	Wei S...Cheng Y	36069395	2022
4	Surgical challenges during open pancreaticoduodenectomy in a patient with situs inversus totalis: A rare case report and literature review. ⁶²	Jomaa S...Alahmar FO	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	Kus G...Arslan S	35583744	2022
6	Laparoscopic cholecystectomy in a patient with situs inversus totalis. ⁶²	Montalvo-Jave EE...Rodriguez-Baez A	36243675	2022
7	Laparoscopic distal gastrectomy for gastric cancer in a patient with situs inversus: a case report. ⁶²	Sato K...Sugita M	36205851	2022
8	Challenges of emergency enbloc laparoscopic proximal hemicolectomy and cholecystectomy in situs inversus totalis. ⁶²	Teoh MMK...Coveney A	35441785	2022
9	ERCP and EUS technique in situs inversus totalis: preparing for a left-sided plot twist. ⁶²	Naser J...Chahal P	36238805	2022
10	Robotic distal gastrectomy for gastric cancer in a patient with situs inversus totalis and a vascular anomaly. ⁶²	Sagawa H...Takiguchi S	36186219	2022
11	Robotic-assisted pulmonary lobectomy with lung cancer in a patient with situs inversus totalis. ⁶²	Yang C...Wang Q	36050769	2022
12	"Reverse life": A rare case report of situs inversus totalis combined with cardiac abnormalities in a young stroke. ⁶²	Chen XQ...Guo ZK	35702947	2022
13	Left Bundle Area Pacing for Tachycardia-Bradycardia Syndrome in a Patient With Dextrocardia. ⁶²	Bodagh N...Wong T	36213881	2022
14	Rare presentation of central retinal vein occlusion sparing the superotemporal quadrant in a patient with congenital cardiovascular disease. ⁶²	Anzidei R...Konidaris VE	36127035	2022
15	Transapical transcatheter J-valve for aortic regurgitation in dextrocardia situs inversus. ⁶²	Chan DT...Au TW	35234054	2022
16	AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells. ⁶²	Revathidevi S...Inoue I	36232425	2022
17	Laparoscopic distal gastrectomy for advanced gastric cancer with situs inversus totalis: a case report. ⁶²	Fujita S...Inomata M	36163524	2022
18	Redo aortic valve surgery in a case of dextrocardia with situs inversus totalis. ⁶²	Dinato FJ...Jatene FB	36027831	2022
19	Sinistroposition: A case report on incidental finding of left sided gall bladder on laparoscopic cholecystectomy. ⁶²	Malla S...Rawal SB	36147104	2022
20	Type II congenital pulmonary airway malformation with primary ciliary dyskinesia in a 4-year-old child: A case report. ⁶²	Li L...Wang W	36165169	2022
21	Primary Ciliary Dyskinesia: Phenotype Resulting From a Novel Variant of LRRC56 Gene. ⁶²	Alasmari BG...Tahir AM	36176820	2022
22	Pancreatoduodenectomy with portal vein resection for pancreatic body cancer in a patient with situs inversus totalis. ⁶²	Nagai K...Hatano E	35839563	2022
23	Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease. ⁶²	Chen W...Zhou X	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	Samady Khanghah A...Tabatabaey A	35957763	2022
25	Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes. ⁶²	Breuer K...Hoefele J	35474353	2022
26	A Case of Unusual Presentation of Kartagener's Syndrome in a 22-Year-Old Female Patient. ⁶²	Sahu S...Manjunath H	36134054	2022
27	Thoracoscopic AF ablation in situs inversus dextrocardia with interrupted inferior vena cava continuation in azygos vein. ⁶²	Fabrizio R...Stefano B	35637597	2022
28	Laparoscopic Colectomy for a Patient with Situs Inversus Totalis: The Usefulness of Preoperative Assessment. ⁶²	Sakamoto J...Fujita S	35869611	2022
29	Rare spontaneous monochorionic dizygotic twins: a case report and a systematic review. ⁶²	Trombetta G...Xodo S	35836143	2022
30	Laparoscopic Roux-en-Y gastric bypass in a patient with situs inversus totalis: case report. ⁶²	Zorrilla-Blanco PG...de la O-Escamilla M	35892124	2022
31	Da Vinci robot-assisted pancreato-duodenectomy in a patient with situs inversus totalis: A case report and review of literature. ⁶²	Li BB...Yu SP	36051094	2022
32	Left sided Amyand hernia - A case report. ⁶²	Joshi J...Varghese GM	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	Doden K...Inaki N	35799403	2022
34	Analysis of outcomes in patients with abnormal laterality undergoing congenital heart surgery. ⁶²	Basgoze S...Erek E	34593080	2022
35	Coronary Compression Following Percutaneous Pulmonary Valve Implantation Despite a Negative Balloon Sizing Test: Lessons Learnt From This Unusual Complication. ⁶²	Velazquez Martin M...Mendoza Soto A	34426086	2022
36	Situs inversus totalis with local metastasis of gallbladder carcinoma and variation of the common hepatic artery. ⁶²	Zhang C...Zhang Y	35883027	2022
37	Bridge to second double lung transplant with an extracorporeal carbon dioxide removal system in situs inversus patient. ⁶²	Furukawa M...Sanchez PG	35411562	2022
38	Sleeve gastrectomy in a patient with situs inversus: a case report. ⁶²	Alonazi I...Alghamdi G	35919692	2022
39	Laparoscopic sleeve gastrectomy in a patient with Situs Inversus Totalis: A case report and literature review. ⁶²	Amirbeigi A...Elyasinia F	35860141	2022
40	Looking in a mirror, laparoscopic gastric sleeve in situs inversus patient: a case report. ⁶²	Paipilla OA...Diaz MA	35865255	2022
41	Morphometric characteristics of the aorta and heart in situs inversus totalis. ⁶²	Pidvalna U...Mateshuk-Vatseba L	35773223	2022
42	Laparoscopic radical resection for situs inversus totalis with colonic splenic flexure carcinoma: A case report. ⁶²	Zheng ZL...Shang JK	35812688	2022
43	Hepatocellular carcinoma with situs inversus totalis treated by caudate lobectomy: A case report. ⁶²	Kitasato A...Kuroki T	35609476	2022
44	Torsion of wandering spleen after Fontan operation in a patient with situs inversus: a rare complication. ⁶²	Miyamura F...Nakamura K	35656572	2022
45	Post-operative Morbidity and Mortality After Fontan Procedure in Patients with Heterotaxy and Other Situs Anomalies. ⁶²	Duong SQ...Collins RT	35064275	2022
46	Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects. ⁶²	Cao Y...Choy KW	35441720	2022
47	Patients with gastric volvulus recurrence have high incidence of wandering spleen requiring laparoscopic gastropexy and splenopexy. ⁶²	Nakagawa Y...Kato D	35391540	2022
48	Persistent left superior vena cava-An alternative feasible technique during Senning procedure. ⁶²	Das A...Mathur A	35279876	2022
49	Congenital tuberculosis with tuberculous meningitis and situs inversus totalis: A case report. ⁶²	Lin H...Liu QY	35812650	2022
50	Laparoscopic anterior resection for patients with rectosigmoid cancer in situs inversus totalis - a video vignette. ⁶²	Arita T...Otsuji E	35068038	2022

Sources

Genes for Dextrocardia with Situs Inversus

Genes related to Dextrocardia with Situs Inversus (10 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PKD1L1	Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting	Protein Coding	775	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵	27616478
2	CCDC103	Coiled-Coil Domain Containing 103	Protein Coding	400	Pathogenic ⁵
3	ANKS3	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 3	Protein Coding	350	Causative germline mutation ⁵⁸	27417436
4	CFAP52	Cilia And Flagella Associated Protein 52	Protein Coding	350	Causative germline mutation ⁵⁸	25469542
5	CFAP53	Cilia And Flagella Associated Protein 53	Protein Coding	350	Causative germline mutation ⁵⁸	22577226
6	DNAH9	Dynein Axonemal Heavy Chain 9	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	30471718
7	MMP21	Matrix Metallopeptidase 21	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	26429889 26437028
8	NME7	NME/NM23 Family Member 7	Protein Coding	350	Causative germline mutation ⁵⁸	27060491
9	NODAL	Nodal Growth Differentiation Factor	Protein Coding	350	Causative germline mutation ⁵⁸	19064609
10	CITED2	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2	Protein Coding	25	Susceptibility factor ⁵⁸
11	BRWD1	Bromodomain And WD Repeat Domain Containing 1	Protein Coding	25	Likely pathogenic ⁵
12	CDCA7L	Cell Division Cycle Associated 7 Like	Protein Coding	25	Likely pathogenic ⁵
13	DNAH11	Dynein Axonemal Heavy Chain 11	Protein Coding	25	Likely pathogenic ⁵
14	MNS1	Meiosis Specific Nuclear Structural 1	Protein Coding	25	Likely pathogenic ⁵
15	TEX9	Testis Expressed 9	Protein Coding	25	Likely pathogenic ⁵

Sources

Variations for Dextrocardia with Situs Inversus

ClinVar genetic disease variations for Dextrocardia with Situs Inversus:

IMPROVED

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

Sources

Expression for Dextrocardia with Situs Inversus

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

Sources

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	Ciliopathies ⁷⁴	11.15	PKD1L1 NME7 CFAP53 CFAP52 CCDC103 ANKS3

Sources

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

Sources for Dextrocardia with Situs Inversus

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: DXT002 MIFTS: 47	Dextrocardia with Situs Inversus Categories: Cardiovascular diseases, Fetal diseases, Liver diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Drugs Expand all tables