SIV
MCID: STS002
MIFTS: 52

Situs Inversus (SIV)

Categories: Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Situs Inversus

MalaCards integrated aliases for Situs Inversus:

Name: Situs Inversus 11 19 28 53 5 43 14 75 31
Situs Inversus Viscerum 11 19 5
Laterality Sequence 11 5
Complete Transposition 11
Siv 19

Classifications:



External Ids:

Disease Ontology 11 DOID:758
ICD9CM 34 759.3
MeSH 43 D012857
NCIt 49 C87121
SNOMED-CT 68 157033002
ICD10 31 Q89.3
UMLS 71 C0037221

Summaries for Situs Inversus

GARD: 19 Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of Situs inversus are complex. Familial cases have been reported.

MalaCards based summary: Situs Inversus, also known as situs inversus viscerum, is related to dextrocardia with situs inversus and ciliary dyskinesia, primary, 1. An important gene associated with Situs Inversus is CFAP53 (Cilia And Flagella Associated Protein 53), and among its related pathways/superpathways are Ciliopathies and Signaling by NODAL. The drugs Nitric Oxide and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are growth/size/body region and nervous system

Disease Ontology: 11 A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs.

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

Related Diseases for Situs Inversus

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

(show top 50) (show all 864)
# Related Disease Score Top Affiliating Genes
1 dextrocardia with situs inversus 33.8 PKD1L1 MNS1 DNAH11 CFAP53 CCDC103
2 ciliary dyskinesia, primary, 1 33.5 DNAI1 DNAH5 DNAH11 CCDC40 CCDC103
3 visceral heterotaxy 33.4 PKD1L1 ODAD4 MNS1 INVS GDF1 DNAI1
4 ciliary dyskinesia, primary, 3 33.4 DNAH5 DNAH11
5 dextrocardia 33.2 DNAI1 DNAH5 DNAH11 DNAAF11 CFAP53 CCDC40
6 primary ciliary dyskinesia 33.2 PKD1L1 ODAD4 MNS1 INVS GDF1 DNAI1
7 ciliary dyskinesia, primary, 30 33.2 DNAH5 CCDC40 CCDC39
8 ciliary dyskinesia, primary, 14 33.1 CCDC40 CCDC39
9 ciliary dyskinesia, primary, 4 33.1 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39 CCDC103
10 ciliary dyskinesia, primary, 2 33.0 DNAAF11 DNAAF1
11 ciliary dyskinesia, primary, 26 33.0 CFAP298-TCP10L CFAP298
12 ciliary dyskinesia, primary, 7 32.9 DNAH5 DNAH11
13 right atrial isomerism 32.9 INVS GDF1 DNAI1 DNAH5 DNAH11 DAND5
14 kartagener syndrome 32.8 ODAD4 DNAI1 DNAH7 DNAH5 DNAH11 DNAAF11
15 ciliary dyskinesia, primary, 8 32.7 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39 CCDC103
16 transposition of the great arteries, dextro-looped 32.0 PKD1L1 GDF1 DNAI1 DNAH5 CERS1
17 bronchiectasis 31.9 DNAI1 DNAH5 DNAH11 DNAAF11 DNAAF1 CCDC40
18 double outlet right ventricle 31.4 GDF1 DNAH5 CERS1
19 retinitis pigmentosa 31.0 INVS DNAI1 DNAH5 DNAH11 DNAAF1 CFAP298
20 chronic rhinitis 30.9 DNAH5 DNAH11 CCDC40
21 polycystic kidney disease 2 with or without polycystic liver disease 30.8 PKD1L1 MNS1 DAND5
22 retinitis pigmentosa 82 with or without situs inversus 11.7
23 agnathia-otocephaly complex 11.7
24 ciliary dyskinesia, primary, 28 11.7
25 ciliary dyskinesia, primary, 5 11.7
26 ciliary dyskinesia, primary, 9 11.7
27 ciliary dyskinesia, primary, 18 11.7
28 ciliary dyskinesia, primary, 23 11.7
29 ciliary dyskinesia, primary, 20 11.7
30 ciliary dyskinesia, primary, 40 11.7
31 ciliary dyskinesia, primary, 10 11.7
32 ciliary dyskinesia, primary, 16 11.7
33 ciliary dyskinesia, primary, 17 11.7
34 ciliary dyskinesia, primary, 19 11.7
35 ciliary dyskinesia, primary, 25 11.7
36 ciliary dyskinesia, primary, 27 11.7
37 isolated levocardia 11.7
38 ciliary dyskinesia, primary, 35 11.7
39 ciliary dyskinesia, primary, 29 11.6
40 ciliary dyskinesia, primary, 11 11.6
41 ciliary dyskinesia, primary, 12 11.6
42 ciliary dyskinesia, primary, 13 11.6
43 ciliary dyskinesia, primary, 15 11.6
44 ciliary dyskinesia, primary, 21 11.6
45 ciliary dyskinesia, primary, 22 11.6
46 ciliary dyskinesia, primary, 38 11.6
47 ciliary dyskinesia, primary, 39 11.6
48 ciliary dyskinesia, primary, 43 11.6
49 ciliary dyskinesia, primary, 44 11.6
50 heterotaxy, visceral, 5, autosomal 11.6

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



Diseases related to Situs Inversus

Symptoms & Phenotypes for Situs Inversus

MGI Mouse Phenotypes related to Situs Inversus:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 CCDC39 CCDC40 CERS1 CFAP53 DAND5 DNAAF11
2 nervous system MP:0003631 10.27 CCDC39 CCDC40 CERS1 CFAP53 DNAAF1 DNAAF11
3 embryo MP:0005380 10.06 CCDC40 CFAP53 DAND5 DNAAF11 DNAH11 GDF1
4 cellular MP:0005384 10.03 CCDC39 CCDC40 CERS1 CFAP53 DNAAF11 DNAH11
5 renal/urinary system MP:0005367 10.02 CCDC39 CCDC40 DNAH11 DNAH5 GDF1 INVS
6 liver/biliary system MP:0005370 10 CCDC39 CFAP53 DNAAF11 DNAH11 DNAH5 GDF1
7 cardiovascular system MP:0005385 9.93 CCDC39 CFAP53 DAND5 DNAAF1 DNAAF11 DNAH11
8 digestive/alimentary MP:0005381 9.91 CCDC39 DNAAF11 DNAH11 DNAH5 GDF1 INVS
9 craniofacial MP:0005382 9.87 CCDC39 DNAAF1 DNAAF11 DNAH11 DNAH5 DNAI1
10 respiratory system MP:0005388 9.77 CCDC39 CCDC40 CFAP53 DAND5 DNAAF11 DNAH11
11 mortality/aging MP:0010768 9.5 CCDC39 CCDC40 CERS1 CFAP53 DAND5 DNAAF1

Drugs & Therapeutics for Situs Inversus

Drugs for 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 Neurotransmitter Agents Phase 3
3 Bronchodilator Agents Phase 3
4 Endothelium-Dependent Relaxing Factors Phase 3
5 Anti-Asthmatic Agents Phase 3
6 Vasodilator Agents Phase 3
7 Respiratory System Agents Phase 3
8 Antioxidants Phase 3
9 Protective Agents Phase 3
10
Mechlorethamine Approved, Investigational 51-75-2 4033
11 Pharmaceutical Solutions
12 3-Iodobenzylguanidine

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 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
5 Late Function After Surgery for Transposition of the Great Arteries Completed NCT03078413
6 Influence of Timing of Switch Operation in Transposition of Great Arteries Completed NCT05160116
7 Outcomes of Transposition of the Great Arteries After Arterial Switch Operation: a Dual-center Study Completed NCT05089773
8 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
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 Situs Inversus

Cochrane evidence based reviews: situs inversus

Genetic Tests for Situs Inversus

Genetic tests related to Situs Inversus:

# Genetic test Affiliating Genes
1 Situs Inversus 28

Anatomical Context for Situs Inversus

Organs/tissues related to Situs Inversus:

MalaCards : Heart, Liver, Lung, Spleen, Colon, Atrioventricular Node, Kidney

Publications for Situs Inversus

Articles related to Situs Inversus:

(show top 50) (show all 3792)
# Title Authors PMID Year
1
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 62 5
27616478 2016
2
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. 53 62
18218308 2008
3
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 53 62
12872123 2003
4
Cardiopulmonary malformations in the inv/inv mouse. 53 62
11331972 2001
5
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 53 62
11231901 2001
6
Endoscopic ultrasound-guided bile duct reconstruction after complete section following a car crash in a 5-year-old child with complete situs inversus. 62
36460043 2022
7
LOF variants identifying candidate genes of laterality defects patients with congenital heart disease. 62
36459505 2022
8
A rare case report of situs inversus totalis underwent coronary artery bypass grafting. 62
36428136 2022
9
Correction to "Laparoscopy-assisted resection of colorectal cancer with situs inversus totalis: A case report and literature review". 62
36438883 2022
10
Efficacy and safety of ERCP in patients with situs inversus totalis: multicenter case series and literature review. 62
36451092 2022
11
Common trunk anomaly of the anterior and posterior inferior cerebellar artery in hemifacial spasm. 62
35524812 2022
12
Successful management of ectopic kidney stones in a patient with situs inversus totalis: a rare case report. 62
36357922 2022
13
[Sinusitis, otitis media and diffuse bronchiectasis in both lungs]. 62
36344229 2022
14
Transpositions of the great arteries versus aortic dextropositions. A review of some embryogenetic and morphological aspects. 62
36426596 2022
15
Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype. 62
36342963 2022
16
Rethinking the cilia hypothesis of hydrocephalus. 62
36341771 2022
17
Progress in diagnosis of primary ciliary dyskinesia. 62
36069395 2022
18
Surgical challenges during open pancreaticoduodenectomy in a patient with situs inversus totalis: A rare case report and literature review. 62
36268427 2022
19
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient. 62
35691949 2022
20
Ascending colon cancer and situs inversus totalis - altered surgeon position for successful laparoscopic hemicolectomy: A case report. 62
36337311 2022
21
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
22
Challenges of emergency enbloc laparoscopic proximal hemicolectomy and cholecystectomy in situs inversus totalis. 62
35441785 2022
23
Laparoscopic cholecystectomy in a patient with situs inversus totalis. 62
36243675 2022
24
ERCP and EUS technique in situs inversus totalis: preparing for a left-sided plot twist. 62
36238805 2022
25
Robotic distal gastrectomy for gastric cancer in a patient with situs inversus totalis and a vascular anomaly. 62
36186219 2022
26
Laparoscopic distal gastrectomy for gastric cancer in a patient with situs inversus: a case report. 62
36205851 2022
27
"Reverse life": A rare case report of situs inversus totalis combined with cardiac abnormalities in a young stroke. 62
35702947 2022
28
Robotic-assisted pulmonary lobectomy with lung cancer in a patient with situs inversus totalis. 62
36050769 2022
29
Laparoscopic distal gastrectomy for advanced gastric cancer with situs inversus totalis: a case report. 62
36163524 2022
30
Redo aortic valve surgery in a case of dextrocardia with situs inversus totalis. 62
36027831 2022
31
Sinistroposition: A case report on incidental finding of left sided gall bladder on laparoscopic cholecystectomy. 62
36147104 2022
32
Rare presentation of central retinal vein occlusion sparing the superotemporal quadrant in a patient with congenital cardiovascular disease. 62
36127035 2022
33
AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells. 62
36232425 2022
34
Transapical transcatheter J-valve for aortic regurgitation in dextrocardia situs inversus. 62
35234054 2022
35
Left Bundle Area Pacing for Tachycardia-Bradycardia Syndrome in a Patient With Dextrocardia. 62
36213881 2022
36
Type II congenital pulmonary airway malformation with primary ciliary dyskinesia in a 4-year-old child: A case report. 62
36165169 2022
37
Primary Ciliary Dyskinesia: Phenotype Resulting From a Novel Variant of LRRC56 Gene. 62
36176820 2022
38
Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease. 62
35050399 2022
39
Pancreatoduodenectomy with portal vein resection for pancreatic body cancer in a patient with situs inversus totalis. 62
35839563 2022
40
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes. 62
35474353 2022
41
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
42
A Case of Unusual Presentation of Kartagener's Syndrome in a 22-Year-Old Female Patient. 62
36134054 2022
43
Thoracoscopic AF ablation in situs inversus dextrocardia with interrupted inferior vena cava continuation in azygos vein. 62
35637597 2022
44
Looking in a mirror, laparoscopic gastric sleeve in situs inversus patient: a case report. 62
35865255 2022
45
Sleeve gastrectomy in a patient with situs inversus: a case report. 62
35919692 2022
46
Laparoscopic sleeve gastrectomy in a patient with Situs Inversus Totalis: A case report and literature review. 62
35860141 2022
47
Laparoscopic Roux-en-Y gastric bypass in a patient with situs inversus totalis: case report. 62
35892124 2022
48
Da Vinci robot-assisted pancreato-duodenectomy in a patient with situs inversus totalis: A case report and review of literature. 62
36051094 2022
49
Left sided Amyand hernia - A case report. 62
35797875 2022
50
Laparoscopic Colectomy for a Patient with Situs Inversus Totalis: The Usefulness of Preoperative Assessment. 62
35869611 2022

Variations for Situs Inversus

ClinVar genetic disease variations for Situs Inversus:

5 (show top 50) (show all 81)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAH5 NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) SNV Pathogenic
407242 rs1060501464 GRCh37: 5:13735276-13735276
GRCh38: 5:13735167-13735167
2 CERS1, GDF1 NM_001492.6(GDF1):c.608G>A (p.Trp203Ter) SNV Pathogenic
985628 rs1359321518 GRCh37: 19:18979917-18979917
GRCh38: 19:18869108-18869108
3 CFAP53 NM_145020.5(CFAP53):c.778-2A>T SNV Pathogenic
1065350 GRCh37: 18:47777348-47777348
GRCh38: 18:50250978-50250978
4 CFAP300 NM_032930.3(CFAP300):c.693_694insGA (p.Tyr232fs) INSERT Pathogenic
1065351 GRCh37: 11:101953819-101953820
GRCh38: 11:102083088-102083089
5 CCDC40 NM_017950.4(CCDC40):c.2832+489_2832+491dup DUP Pathogenic
1065352 GRCh37: 17:78064171-78064172
GRCh38: 17:80090372-80090373
6 ODAD4 NM_031421.5(ODAD4):c.1979del (p.Thr660fs) DEL Pathogenic
1065353 GRCh37: 17:40117461-40117461
GRCh38: 17:41965443-41965443
7 CFAP298-TCP10L, CFAP298 NM_021254.4(CFAP298):c.308C>A (p.Ala103Asp) SNV Pathogenic
1065354 GRCh37: 21:33980026-33980026
GRCh38: 21:32607716-32607716
8 DNAH7 NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser) SNV Pathogenic
599649 rs770861172 GRCh37: 2:196722306-196722306
GRCh38: 2:195857582-195857582
9 DNAH7 NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp) SNV Pathogenic
599650 rs114621989 GRCh37: 2:196602773-196602773
GRCh38: 2:195738049-195738049
10 CCDC103 NM_213607.3(CCDC103):c.568_569dup (p.Ser190fs) MICROSAT Pathogenic
455029 rs746242380 GRCh37: 17:42980013-42980014
GRCh38: 17:44902645-44902646
11 DNAAF11 NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) SNV Pathogenic
39798 rs200321595 GRCh37: 8:133645203-133645203
GRCh38: 8:132632957-132632957
12 DNAH5 NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter) SNV Pathogenic
238987 rs775946081 GRCh37: 5:13793819-13793819
GRCh38: 5:13793710-13793710
13 DNAAF1 NM_178452.6(DNAAF1):c.1698+1G>A SNV Pathogenic
242159 rs139519641 GRCh37: 16:84208329-84208329
GRCh38: 16:84174723-84174723
14 PKD1L1 NM_138295.5(PKD1L1):c.6473+2_6473+3del DEL Pathogenic
235796 rs528302390 GRCh37: 7:47870812-47870813
GRCh38: 7:47831214-47831215
15 PKD1L1 NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser) SNV Likely Pathogenic
235198 rs886037834 GRCh37: 7:47886558-47886558
GRCh38: 7:47846960-47846960
16 BRWD1 NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu) SNV Likely Pathogenic
982437 GRCh37: 21:40570769-40570769
GRCh38: 21:39198843-39198843
17 CCDC39 NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs) DEL Likely Pathogenic
565319 rs1560086701 GRCh37: 3:180359783-180359784
GRCh38: 3:180641995-180641996
18 MNS1, TEX9 NM_018365.4(MNS1):c.407_410del (p.Glu136fs) MICROSAT Likely Pathogenic
635005 rs1596264554 GRCh37: 15:56739085-56739088
GRCh38: 15:56446887-56446890
19 DNAH11 NM_001277115.2(DNAH11):c.3253C>T (p.Gln1085Ter) SNV Likely Pathogenic
1678873 GRCh37: 7:21640546-21640546
GRCh38: 7:21600928-21600928
20 CDCA7L, DNAH11 NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs) DEL Likely Pathogenic
1678874 GRCh37: 7:21940663-21940684
GRCh38: 7:21901045-21901066
21 DAND5 NM_152654.3(DAND5):c.396_397dup (p.Tyr133fs) MICROSAT Likely Pathogenic
1065356 GRCh37: 19:13084267-13084268
GRCh38: 19:12973453-12973454
22 CFAP53 NM_145020.5(CFAP53):c.777G>T (p.Val259=) SNV Likely Pathogenic
1065355 GRCh37: 18:47777851-47777851
GRCh38: 18:50251481-50251481
23 PKD1L1 NM_138295.5(PKD1L1):c.5404_5405dup (p.Asp1803fs) DUP Likely Pathogenic
1065357 GRCh37: 7:47882599-47882600
GRCh38: 7:47843001-47843002
24 CELSR1 NM_001378328.1(CELSR1):c.5497G>A (p.Val1833Met) SNV Uncertain Significance
1065358 GRCh37: 22:46794450-46794450
GRCh38: 22:46398553-46398553
25 DNAH6 NM_001370.2(DNAH6):c.6181C>T (p.Arg2061Ter) SNV Uncertain Significance
1065359 GRCh37: 2:84896509-84896509
GRCh38: 2:84669385-84669385
26 CFAP46 NM_001200049.3(CFAP46):c.1951C>T (p.Arg651Trp) SNV Uncertain Significance
1065360 GRCh37: 10:134731932-134731932
GRCh38: 10:132918428-132918428
27 CFAP52 NM_145054.5(CFAP52):c.1027G>A (p.Gly343Ser) SNV Uncertain Significance
1510687 GRCh37: 17:9531990-9531990
GRCh38: 17:9628673-9628673
28 CFAP52 NM_145054.5(CFAP52):c.1492A>G (p.Met498Val) SNV Uncertain Significance
573466 rs765338836 GRCh37: 17:9541945-9541945
GRCh38: 17:9638628-9638628
29 CFAP52 NM_145054.5(CFAP52):c.1625G>A (p.Gly542Asp) SNV Uncertain Significance
574037 rs552119987 GRCh37: 17:9545090-9545090
GRCh38: 17:9641773-9641773
30 CFAP52 NM_145054.5(CFAP52):c.1404G>T (p.Arg468Ser) SNV Uncertain Significance
581962 rs775063335 GRCh37: 17:9538805-9538805
GRCh38: 17:9635488-9635488
31 CFAP52 NM_145054.5(CFAP52):c.1430T>C (p.Val477Ala) SNV Uncertain Significance
582339 rs77840450 GRCh37: 17:9538831-9538831
GRCh38: 17:9635514-9635514
32 CFAP52 NM_145054.5(CFAP52):c.189delinsAGCA (p.His63delinsGlnAla) INDEL Uncertain Significance
641856 rs1597763121 GRCh37: 17:9489208-9489208
GRCh38: 17:9585891-9585891
33 CFAP52 NM_145054.5(CFAP52):c.1304del (p.Gly435fs) DEL Uncertain Significance
1285595 GRCh37: 17:9536333-9536333
GRCh38: 17:9633016-9633016
34 CFAP52 NM_145054.5(CFAP52):c.771G>T (p.Arg257Ser) SNV Uncertain Significance
645178 rs1389914976 GRCh37: 17:9511453-9511453
GRCh38: 17:9608136-9608136
35 CFAP52 NM_145054.5(CFAP52):c.1780C>T (p.Arg594Cys) SNV Uncertain Significance
841069 rs200319536 GRCh37: 17:9546432-9546432
GRCh38: 17:9643115-9643115
36 CFAP52 NM_145054.5(CFAP52):c.482C>A (p.Ala161Asp) SNV Uncertain Significance
841952 rs147354190 GRCh37: 17:9497584-9497584
GRCh38: 17:9594267-9594267
37 CFAP52 NM_145054.5(CFAP52):c.969A>T (p.Lys323Asn) SNV Uncertain Significance
861945 rs767468275 GRCh37: 17:9515740-9515740
GRCh38: 17:9612423-9612423
38 CFAP52 NM_145054.5(CFAP52):c.121T>C (p.Tyr41His) SNV Uncertain Significance
942263 rs371902741 GRCh37: 17:9489140-9489140
GRCh38: 17:9585823-9585823
39 CFAP52 NM_145054.5(CFAP52):c.439G>A (p.Ala147Thr) SNV Uncertain Significance
962973 rs748587285 GRCh37: 17:9497541-9497541
GRCh38: 17:9594224-9594224
40 CFAP52 NM_145054.5(CFAP52):c.1106G>A (p.Arg369Gln) SNV Uncertain Significance
1038824 rs141646758 GRCh37: 17:9532069-9532069
GRCh38: 17:9628752-9628752
41 CFAP52 NM_145054.5(CFAP52):c.1601G>C (p.Gly534Ala) SNV Uncertain Significance
1054061 GRCh37: 17:9545066-9545066
GRCh38: 17:9641749-9641749
42 CFAP52 NM_145054.5(CFAP52):c.531T>A (p.Ala177=) SNV Uncertain Significance
1394379 GRCh37: 17:9497633-9497633
GRCh38: 17:9594316-9594316
43 CFAP52 NM_145054.5(CFAP52):c.1652T>C (p.Met551Thr) SNV Uncertain Significance
1416427 GRCh37: 17:9545117-9545117
GRCh38: 17:9641800-9641800
44 CFAP52 NM_145054.5(CFAP52):c.244G>A (p.Gly82Arg) SNV Uncertain Significance
1419105 GRCh37: 17:9489263-9489263
GRCh38: 17:9585946-9585946
45 CFAP52 NM_145054.5(CFAP52):c.536+1G>T SNV Uncertain Significance
1443577 GRCh37: 17:9497639-9497639
GRCh38: 17:9594322-9594322
46 BRWD1 NM_033656.4(BRWD1):c.523C>T (p.His175Tyr) SNV Uncertain Significance
982436 GRCh37: 21:40667755-40667755
GRCh38: 21:39295829-39295829
47 BRWD1 NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser) SNV Uncertain Significance
982435 GRCh37: 21:40684799-40684799
GRCh38: 21:39312873-39312873
48 CFAP52 NM_145054.5(CFAP52):c.734C>T (p.Ala245Val) SNV Uncertain Significance
1001316 rs146845939 GRCh37: 17:9503481-9503481
GRCh38: 17:9600164-9600164
49 CFAP52 NM_145054.5(CFAP52):c.509G>A (p.Arg170Gln) SNV Uncertain Significance
969026 rs34653219 GRCh37: 17:9497611-9497611
GRCh38: 17:9594294-9594294
50 CFAP52 NM_145054.5(CFAP52):c.199G>A (p.Val67Ile) SNV Uncertain Significance
544338 rs201479202 GRCh37: 17:9489218-9489218
GRCh38: 17:9585901-9585901

Expression for Situs Inversus

Search GEO for disease gene expression data for Situs Inversus.

Pathways for Situs Inversus

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

# Super pathways Score Top Affiliating Genes
1 10.97 PKD1L1 INVS CFAP53 CCDC103
2
Show member pathways
10.47 GDF1 DAND5

GO Terms for Situs Inversus

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.54 CCDC103 CCDC39 CCDC40 CFAP53 DAND5 DNAAF1
2 microtubule GO:0005874 10.19 INVS DNAI1 DNAH7 DNAH5 DNAH11
3 motile cilium GO:0031514 10.15 MNS1 DNAH5 DNAH11 DNAAF11 CFAP300 CCDC103
4 cytoskeleton GO:0005856 10.13 ODAD4 MNS1 INVS DNAI1 DNAH7 DNAH5
5 axoneme GO:0005930 10.09 CCDC103 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5
6 dynein complex GO:0030286 9.98 DNAH11 DNAH5 DNAH7 DNAI1
7 outer dynein arm GO:0036157 9.93 DNAI1 DNAH5 CCDC103
8 9+2 motile cilium GO:0097729 9.92 DNAH11 DNAH5 DNAI1 ODAD4
9 9+0 motile cilium GO:0097728 9.88 ODAD4 DNAH5 DNAH11
10 cell projection GO:0042995 9.86 CCDC103 CCDC39 CCDC40 CFAP298 CFAP300 CFAP53
11 dynein axonemal particle GO:0120293 9.83 DNAI1 DNAAF11
12 axonemal dynein complex GO:0005858 9.69 DNAH7 DNAH5
13 cilium GO:0005929 9.66 CCDC103 CCDC39 CCDC40 CFAP298 CFAP53 DNAAF1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 flagellated sperm motility GO:0030317 10.26 DNAI1 DNAH5 DNAH11 DNAAF11 CCDC40 CCDC39
2 cilium assembly GO:0060271 10.21 DNAH5 DNAAF1 CFAP53 CFAP298
3 heart development GO:0007507 10.19 ODAD4 DNAI1 DNAH5 DNAH11 CCDC39
4 lung development GO:0030324 10.18 CCDC39 CCDC40 DNAAF1 ODAD4
5 microtubule-based movement GO:0007018 10.17 DNAI1 DNAH7 DNAH5 DNAH11
6 heart looping GO:0001947 10.16 DNAAF1 CCDC40 CCDC39 CCDC103
7 determination of left/right symmetry GO:0007368 10.15 DNAI1 DNAH5 DNAH11 DAND5 CFAP53 CCDC39
8 motile cilium assembly GO:0044458 10.13 DNAAF11 DNAAF1 CCDC40 CCDC39
9 axonemal dynein complex assembly GO:0070286 10.1 DNAAF11 DNAAF1 CCDC40 CCDC39 CCDC103
10 outer dynein arm assembly GO:0036158 10.1 CCDC103 DNAAF1 DNAAF11 DNAH5 DNAI1 ODAD4
11 regulation of cilium beat frequency GO:0003356 10.06 DNAH11 DNAAF1 CCDC40 CCDC39
12 determination of digestive tract left/right asymmetry GO:0071907 10.03 CCDC103 CCDC39 CCDC40 DNAAF1
13 inner dynein arm assembly GO:0036159 10.03 DNAH7 DNAAF11 DNAAF1 CCDC40 CCDC39 CCDC103
14 cerebrospinal fluid circulation GO:0090660 10.02 CCDC39 DNAAF11 ODAD4
15 determination of liver left/right asymmetry GO:0071910 10.01 DNAAF1 CCDC40 CCDC39
16 cilium movement GO:0003341 10 CCDC103 CCDC39 CCDC40 CFAP53 DNAAF1 DNAAF11
17 determination of pancreatic left/right asymmetry GO:0035469 9.99 DNAAF1 CCDC40 CCDC39
18 protein localization to motile cilium GO:0120229 9.97 DNAAF11 DNAH11 ODAD4
19 epithelial cilium movement involved in extracellular fluid movement GO:0003351 9.93 CCDC103 CCDC39 CCDC40 DNAAF11 DNAH11 DNAH5
20 cilium-dependent cell motility GO:0060285 9.91 DNAH7 CCDC39
21 left/right axis specification GO:0070986 9.9 PKD1L1 MNS1
22 regulation of cilium movement GO:0003352 9.77 CFAP298-TCP10L CFAP298
23 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.53 CCDC103 CCDC39 CCDC40 CFAP53 DNAAF1 DNAAF11

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

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.63 DNAH7 DNAH5 DNAH11
2 dynein light intermediate chain binding GO:0051959 9.43 DNAH7 DNAH5 DNAH11
3 minus-end-directed microtubule motor activity GO:0008569 9.1 DNAH7 DNAH5 DNAH11

Sources for 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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....