HTX
MCID: HTR003
MIFTS: 44

Heterotaxy (HTX)

Categories: Rare diseases

Aliases & Classifications for Heterotaxy

MalaCards integrated aliases for Heterotaxy:

Name: Heterotaxy 73 20 43 36
Heterotaxy Syndrome 20 43 6 70
Visceral Heterotaxy 20 43
Situs Ambiguus 20 43
Situs Ambiguus Viscerum 43
Lateralization Defect 20
Asplenia Syndrome 70
Ivemark Syndrome 43
Right Isomerism 43
Situs Ambiguous 20
Left Isomerism 43
Heterotaxia 20
Htx 43

Classifications:



External Ids:

KEGG 36 H00632
UMLS 70 C0175707 C3178805

Summaries for Heterotaxy

MedlinePlus Genetics : 43 Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs.In the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right. This normal arrangement of the organs is known as "situs solitus." Rarely, the orientation of the internal organs is completely flipped from right to left, a situation known as "situs inversus." This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as "situs ambiguus." Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems.Heterotaxy syndrome can alter the structure of the heart, including the attachment of the large blood vessels that carry blood to and from the rest of the body. It can also affect the structure of the lungs, such as the number of lobes in each lung and the length of the tubes (called bronchi) that lead from the windpipe to the lungs. In the abdomen, the condition can cause a person to have no spleen (asplenia) or multiple small, poorly functioning spleens (polysplenia). The liver may lie across the middle of the body instead of being in its normal position to the right of the stomach. Some affected individuals also have intestinal malrotation, which is an abnormal twisting of the intestines that occurs in the early stages of development before birth.Depending on the organs involved, signs and symptoms of heterotaxy syndrome can include a bluish appearance of the skin or lips (cyanosis, which is due to a shortage of oxygen), breathing difficulties, an increased risk of infections, and problems with digesting food. The most serious complications are generally caused by critical congenital heart disease, a group of complex heart defects that are present from birth. Biliary atresia, a problem with the bile ducts in the liver, can also cause severe health problems in infancy.The severity of heterotaxy syndrome varies depending on the specific abnormalities involved. Some affected individuals have only mild health problems related to the condition. At the other end of the spectrum, heterotaxy syndrome can be life-threatening in infancy or childhood, even with treatment.

MalaCards based summary : Heterotaxy, also known as heterotaxy syndrome, is related to right atrial isomerism and heart septal defect. An important gene associated with Heterotaxy is CERS1 (Ceramide Synthase 1), and among its related pathways/superpathways are TGF-beta signaling pathway and Cytokine-cytokine receptor interaction. The drug Kava has been mentioned in the context of this disorder. Affiliated tissues include heart, spleen and liver, and related phenotypes are cardiovascular system and growth/size/body region

GARD : 20 Heterotaxy is a condition characterized by internal organs that are not arranged as would be expected in the chest and abdomen. Organs are expected to be in a particular orientation inside of the body, known as situs solitus. Heterotaxy occurs when the organs are not in this typical orientation, but are instead in different positions in the body. This most commonly causes complications with the heart, lungs, liver, spleen, and intestines. Specific symptoms include not getting enough oxygen throughout the body, breathing difficulties, increased risk for infection, and problems digesting food. Heterotaxy may be caused by genetic changes ( mutations ), exposures to toxins while a woman is pregnant causing the baby to have heterotaxy, or the condition may occur sporadically. The condition is typically diagnosed through imaging such as an echocardiogram or an MRI. Treatment depends on the specific symptoms of each person, but typically includes heart surgery and monitoring by a team of specialists.

KEGG : 36 Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations in the left-right organization is referred to as heterotaxy. Heterotaxy is associated with perturbation of nodal signaling during embryogenesis.

Wikipedia : 73 Situs ambiguus is a rare congenital defect in which the major visceral organs are distributed abnormally... more...

Related Diseases for Heterotaxy

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

(show top 50) (show all 265)
# Related Disease Score Top Affiliating Genes
1 right atrial isomerism 30.9 ZIC3 NODAL GDF1 CFC1 CERS1 ACVR2B
2 heart septal defect 30.6 ZIC3 NODAL CFC1
3 right aortic arch 30.4 CFAP53 ACVR2B
4 dextrocardia 30.3 ZIC3 NODAL CFAP53 ACVR2B
5 ventricular septal defect 30.1 ZIC3 NODAL GDF1
6 pulmonary valve stenosis 30.1 ZIC3 CFC1
7 visceral heterotaxy 30.1 ZIC3 PKD1L1 NODAL MMP21 GDF1 CFC1
8 atrioventricular septal defect 30.0 ZIC3 NODAL GDF1 CFC1
9 atrial heart septal defect 30.0 ZIC3 NODAL CFC1
10 dextrocardia with situs inversus 30.0 PKD1L1 NODAL MMP21 CFAP53
11 hypoplastic left heart syndrome 29.7 ZIC3 NODAL CFC1 CFAP53
12 patent ductus arteriosus 1 29.6 ZIC3 NODAL CFC1
13 holoprosencephaly 29.4 ZIC3 NODAL GDF1
14 primary ciliary dyskinesia 29.4 ZIC3 PKD1L1 NODAL MMP21 GDF1 GALNT11
15 double outlet right ventricle 29.3 ZIC3 NODAL GDF1 CFC1 CERS1 ACVR2B
16 dextro-looped transposition of the great arteries 29.1 ZIC3 PKD1L1 NODAL GDF1 CFC1 CERS1
17 heart disease 28.9 ZIC3 NODAL GDF1 GALNT11 CFC1 CERS1
18 tetralogy of fallot 28.8 ZIC3 NODAL GDF1 CFC1 CERS1
19 kartagener syndrome 28.5 ZIC3 PKD1L1 GDF1 DNAH6 CFC1 CFAP53
20 heterotaxy, visceral, 1, x-linked 11.7
21 heterotaxy, visceral, 5, autosomal 11.6
22 heterotaxy, visceral, 2, autosomal 11.6
23 heterotaxy, visceral, 4, autosomal 11.6
24 heterotaxy, visceral, 6, autosomal 11.5
25 heterotaxy, visceral, 7, autosomal 11.5
26 heterotaxy, visceral, 8, autosomal 11.5
27 heterotaxy, visceral, 9, autosomal, with male infertility 11.5
28 heterotaxy, visceral, 3, autosomal 11.5
29 atrioventricular septal defect 2 11.2
30 heinz body anemias 11.2
31 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 11.0
32 asplenia, isolated congenital 11.0
33 atrioventricular septal defect 4 11.0
34 atrioventricular septal defect 5 11.0
35 campomelia, cumming type 11.0
36 cardiac anomalies-heterotaxy syndrome 10.9
37 pancreas, dorsal, agenesis of 10.9
38 cardiofacioneurodevelopmental syndrome 10.9
39 single ventricular heart 10.6
40 situs inversus 10.5
41 volvulus of midgut 10.3
42 congenital hydrocephalus 10.3
43 arteriovenous malformation 10.2
44 isolated congenitally uncorrected transposition of the great arteries 10.2 ZIC3 CFC1
45 cyanosis, transient neonatal 10.2
46 atrioventricular block 10.2
47 pulmonary venous return anomaly 10.2
48 univentricular heart 10.2
49 pulmonary valve disease 10.1 ZIC3 CFC1
50 biliary atresia 10.1

Graphical network of the top 20 diseases related to Heterotaxy:



Diseases related to Heterotaxy

Symptoms & Phenotypes for Heterotaxy

MGI Mouse Phenotypes related to Heterotaxy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 ACVR2B CFAP53 DNAH6 GDF1 MMP21 NODAL
2 growth/size/body region MP:0005378 9.85 ACVR2B CERS1 CFAP53 DNAH6 GALNT11 GDF1
3 embryo MP:0005380 9.73 ACVR2B CFAP53 GDF1 NODAL PKD1L1 ZIC3
4 digestive/alimentary MP:0005381 9.72 GDF1 MMP21 NODAL PKD1L1 ZIC3
5 liver/biliary system MP:0005370 9.43 ACVR2B CFAP53 GDF1 MMP21 NODAL ZIC3
6 respiratory system MP:0005388 9.17 ACVR2B CFAP53 GDF1 MMP21 NODAL PKD1L1

Drugs & Therapeutics for Heterotaxy

Drugs for Heterotaxy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Kava Approved, Investigational, Nutraceutical 9000-38-8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data Completed NCT01929967
2 Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study Completed NCT01591928
3 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
4 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
5 Racial Distribution of Heterotaxy Syndrome and Effects on Clinical Outcomes Protocol Terminated NCT00485654

Search NIH Clinical Center for Heterotaxy

Genetic Tests for Heterotaxy

Anatomical Context for Heterotaxy

MalaCards organs/tissues related to Heterotaxy:

40
Heart, Spleen, Liver, Pancreas, Adrenal Gland, Uterus, Pituitary

Publications for Heterotaxy

Articles related to Heterotaxy:

(show top 50) (show all 869)
# Title Authors PMID Year
1
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. 61 6
26437028 2015
2
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 6 61
20413652 2010
3
Heterotaxy syndrome and intestinal rotational anomalies: Impact of the Ladd procedure. 61 20
25783348 2015
4
Heterotaxy polysplenia syndrome in an adult female with complete endocardial cushion defect. 61
33717387 2021
5
Twin atrioventricular nodes, arrhythmias, and survival in pediatric and adult patients with heterotaxy syndrome. 61
33321198 2021
6
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease. 61
33547761 2021
7
Transjugular liver biopsy for Fontan associated liver disease surveillance: Technique, outcomes and hemodynamic correlation. 61
33278420 2021
8
Arrhythmias in a hall of mirrors: Pediatric heterotaxy syndromes. 61
33383227 2021
9
Off-pump direct hepatic veins-to-hemiazygos vein anastomosis after primary Kawashima operation: long-term result. 61
33682660 2021
10
The multisystem nature of isomerism: left isomerism complicated by Abernethy malformation and portopulmonary hypertension. 61
33731242 2021
11
Increases in oxygen saturation following discharge from Fontan palliation - an indicator of resolution of pulmonary arteriovenous malformations? 61
33691814 2021
12
Extracorporeal Membrane Oxygenation Complicated by an Interrupted Inferior Vena Cava. 61
33741788 2021
13
Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum. 61
33655537 2021
14
Outcomes of single ventricle palliation in infants with heterotaxy syndrome. 61
33783481 2021
15
Practical approach to imaging diagnosis of biliary atresia, Part 1: prenatal ultrasound and magnetic resonance imaging, and postnatal ultrasound. 61
33201318 2021
16
Prenatal diagnosis of intestinal nonrotation using magnetic resonance imaging: Is it possible? 61
33608743 2021
17
Thoracoscopic oesophago-oesophagostomy in the prone position for oesophageal stenosis caused by dilated azygos vein in polysplenia-associated heterotaxy. 61
33605935 2021
18
Identification of high-risk Fontan candidates by intraoperative pulmonary flow study. 61
32987053 2021
19
Prenatal diagnosis of congenital dislocated spine and complex heterotaxy syndrome with 3D ultrasound and helical computed tomography. 61
32086974 2021
20
Perioperative outcomes of Fontan operation: Impact of heterotaxy syndrome. 61
33549407 2021
21
Effect of Atrioventricular Valve Repair on Multistage Palliation Results of Single-Ventricle Defects. 61
32454017 2021
22
It Takes a Village: Sleeve Gastrectomy in a Patient with Heterotaxy Syndrome and Congenital Heart Disease. 61
32691400 2021
23
Role of cilia in the pathogenesis of congenital heart disease. 61
32418658 2021
24
Intestinal malrotation in adults: prevalence and findings based on CT colonography. 61
33558953 2021
25
Prevalence of associated extracardiac anomalies in prenatally diagnosed congenital heart diseases. 61
33735284 2021
26
The heterotaxy syndrome: associated congenital heart defects and management. 61
33603285 2021
27
[Cancer of terminal part of common bile duct in a patient with heterotaxy syndrome]. 61
33759470 2021
28
3D Modeling and Printing in Congenital Heart Surgery: Entering the Stage of Maturation. 61
33614554 2021
29
Early Outcomes for In Situ Pericardial Roll Repair for Distant Anomalous Pulmonary Venous Return. 61
32339505 2021
30
A Rare Case of an Unroofed Coronary Sinus With a Persistent Left Superior Vena Cava Diagnosed by Two-Dimensional Transthoracic Echocardiography. 61
33680587 2021
31
Cardiovascular disorders in patients with congenital portosystemic shunts: 23 years of experience in a tertiary referral centre. 61
33281106 2020
32
Use of hyperglycemic clamp to assess pancreatectomy and islet cell autotransplant in patient with heterotaxy syndrome and dorsal pancreas agenesis leading to chronic pancreatitis. 61
32476268 2020
33
[Progresses in molecular genetic study of heterotaxy with congenital heart disease]. 61
33256330 2020
34
1.5-Ventricle Repair Using Left Ventricle as the Subpulmonary Ventricle. 61
32504613 2020
35
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction. 61
33196317 2020
36
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy. 61
33131162 2020
37
Early outcomes of usage of cryoFORM® probe for cryomaze procedure in congenital heart surgery. 61
32988422 2020
38
Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing. 61
32738303 2020
39
Survival and predictors of mortality in patients after the Fontan operation. 61
32777943 2020
40
Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left-right patterning. 61
33230144 2020
41
A Membrane-Tethered Ubiquitination Pathway Regulates Hedgehog Signaling and Heart Development. 61
32966817 2020
42
A rare cause of abnormal pulmonary venous drainage: septum primum malposition. 61
32854792 2020
43
Neglected right diaphragmatic hernia with transthoracic herniation of gallbladder and malrotated left liver lobe in an adult. 61
32793319 2020
44
Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3. 61
32639022 2020
45
The Spectrum of Cardiac Anomalies Associated with Heterotaxy: A Single-Center Study of a Large Series Based on Computed Tomography. 61
32556488 2020
46
Phenotypic features of ciliary dyskinesia among patients with congenital cardiovascular malformations. 61
32662935 2020
47
A Case Report of Left Atrial Isomerism in a Syndromic Context. 61
33081203 2020
48
Lateral Heterotaxy Syndrome in a Newborn Caucasian Male. 61
33269136 2020
49
Persistent left superior vena cava: clinical importance and differential diagnoses. 61
33057803 2020
50
Unusual long survival in a case of heterotaxy and polysplenia. 61
32995936 2020

Variations for Heterotaxy

ClinVar genetic disease variations for Heterotaxy:

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXP1 NM_032682.6(FOXP1):c.1702C>T (p.Pro568Ser) SNV association 55847 rs147674680 GRCh37: 3:71019907-71019907
GRCh38: 3:70970756-70970756
2 CERS1 , GDF1 NM_001492.6(GDF1):c.523_586dup (p.Ala196fs) Duplication Pathogenic 665854 rs1601143502 GRCh37: 19:18979938-18979939
GRCh38: 19:18869129-18869130
3 CERS1 , GDF1 NM_001492.6(GDF1):c.289del (p.Val97fs) Deletion Pathogenic 850258 GRCh37: 19:18980828-18980828
GRCh38: 19:18870019-18870019
4 PKD1L1 NM_138295.5(PKD1L1):c.160+1G>A SNV Pathogenic 873155 rs753911740 GRCh37: 7:47982992-47982992
GRCh38: 7:47943395-47943395
5 MMP21 NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) SNV Likely pathogenic 289001 rs137955225 GRCh37: 10:127458937-127458937
GRCh38: 10:125770368-125770368
6 CERS1 , GDF1 NM_001492.6(GDF1):c.189G>A (p.Trp63Ter) SNV Likely pathogenic 664346 rs1487660277 GRCh37: 19:18980928-18980928
GRCh38: 19:18870119-18870119
7 CERS1 , GDF1 NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) Deletion Likely pathogenic 410641 rs768027510 GRCh37: 19:18979475-18979478
GRCh38: 19:18868666-18868669
8 MMP21 NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) SNV Likely pathogenic 265317 rs145119918 GRCh37: 10:127456139-127456139
GRCh38: 10:125767570-125767570
9 CERS1 , GDF1 NM_001492.6(GDF1):c.185T>C (p.Met62Thr) SNV Uncertain significance 665856 rs934696667 GRCh37: 19:18980932-18980932
GRCh38: 19:18870123-18870123
10 CERS1 , GDF1 NM_001492.6(GDF1):c.80C>T (p.Thr27Ile) SNV Uncertain significance 581534 rs1568291657 GRCh37: 19:18981037-18981037
GRCh38: 19:18870228-18870228
11 CERS1 , GDF1 NM_001492.6(GDF1):c.1030C>T (p.Pro344Ser) SNV Uncertain significance 659753 rs779492558 GRCh37: 19:18979495-18979495
GRCh38: 19:18868686-18868686
12 CERS1 , GDF1 NM_001492.6(GDF1):c.1075C>T (p.Arg359Trp) SNV Uncertain significance 660810 rs1324719289 GRCh37: 19:18979450-18979450
GRCh38: 19:18868641-18868641
13 CERS1 , GDF1 NM_001492.6(GDF1):c.883T>A (p.Tyr295Asn) SNV Uncertain significance 539304 rs1555702233 GRCh37: 19:18979642-18979642
GRCh38: 19:18868833-18868833
14 CERS1 , GDF1 NM_001492.6(GDF1):c.812G>C (p.Arg271Pro) SNV Uncertain significance 966764 GRCh37: 19:18979713-18979713
GRCh38: 19:18868904-18868904
15 ACVR2B NM_001106.4(ACVR2B):c.*9319_*9320TA[8] Microsatellite Uncertain significance 345045 rs1553679292 GRCh37: 3:38534140-38534141
GRCh38: 3:38492649-38492650
16 ACVR2B NM_001106.4(ACVR2B):c.*2360_*2361dup Duplication Uncertain significance 344963 rs59343196 GRCh37: 3:38527157-38527158
GRCh38: 3:38485666-38485667
17 ACVR2B NM_001106.4(ACVR2B):c.*9399_*9435delinsATT Indel Uncertain significance 345051 rs886058433 GRCh37: 3:38534222-38534258
GRCh38: 3:38492731-38492767
18 ACVR2B NM_001106.4(ACVR2B):c.*2362_*2364del Deletion Uncertain significance 344965 rs886058399 GRCh37: 3:38527184-38527186
GRCh38: 3:38485693-38485695
19 ACVR2B NM_001106.4(ACVR2B):c.*2841dup Duplication Uncertain significance 344971 rs886058403 GRCh37: 3:38527662-38527663
GRCh38: 3:38486171-38486172
20 ACVR2B NM_001106.4(ACVR2B):c.*9443_*9469delinsT Indel Uncertain significance 345054 rs886058436 GRCh37: 3:38534266-38534292
GRCh38: 3:38492775-38492801
21 ACVR2B NM_001106.4(ACVR2B):c.*8675dup Duplication Uncertain significance 345034 rs747166046 GRCh37: 3:38533497-38533498
GRCh38: 3:38492006-38492007
22 CERS1 , GDF1 NM_001492.6(GDF1):c.925T>C (p.Ser309Pro) SNV Uncertain significance 220404 rs864622513 GRCh37: 19:18979600-18979600
GRCh38: 19:18868791-18868791
23 NODAL NM_018055.5(NODAL):c.*747dup Duplication Uncertain significance 300287 rs886047099 GRCh37: 10:72191944-72191945
GRCh38: 10:70432188-70432189
24 ACVR2B NM_001106.4(ACVR2B):c.*9317_*9318dup Duplication Uncertain significance 345044 rs150324551 GRCh37: 3:38534133-38534134
GRCh38: 3:38492642-38492643
25 ACVR2B NM_001106.4(ACVR2B):c.*2361dup Duplication Uncertain significance 344962 rs59343196 GRCh37: 3:38527157-38527158
GRCh38: 3:38485666-38485667
26 LEFTY2 NM_001172425.2(LEFTY2):c.-225C>T SNV Uncertain significance 295978 rs886046060 GRCh37: 1:226129065-226129065
GRCh38: 1:225941365-225941365
27 ACVR2B NM_001106.4(ACVR2B):c.*9317_*9318insTAT Insertion Uncertain significance 345047 rs1553679291 GRCh37: 3:38534140-38534141
GRCh38: 3:38492649-38492650
28 ACVR2B NM_001106.4(ACVR2B):c.*8334del Deletion Uncertain significance 345030 rs886058424 GRCh37: 3:38533155-38533155
GRCh38: 3:38491664-38491664
29 ACVR2B NM_001106.4(ACVR2B):c.*342_*345TTGT[1] Microsatellite Uncertain significance 344928 rs559626026 GRCh37: 3:38525164-38525167
GRCh38: 3:38483673-38483676
30 ACVR2B NM_001106.4(ACVR2B):c.*1574_*1579del Deletion Uncertain significance 344948 rs886058394 GRCh37: 3:38526396-38526401
GRCh38: 3:38484905-38484910
31 ACVR2B NM_001106.4(ACVR2B):c.*9398_*9399insATTA Insertion Uncertain significance 345050 rs1553679325 GRCh37: 3:38534221-38534222
GRCh38: 3:38492730-38492731
32 ACVR2B NM_001106.4(ACVR2B):c.*5201T>C SNV Uncertain significance 344999 rs757237546 GRCh37: 3:38530024-38530024
GRCh38: 3:38488533-38488533
33 ACVR2B NM_001106.4(ACVR2B):c.*2332_*2334del Deletion Uncertain significance 344961 rs886058396 GRCh37: 3:38527155-38527157
GRCh38: 3:38485664-38485666
34 LEFTY2 NM_001172425.2(LEFTY2):c.-222C>A SNV Uncertain significance 295977 rs886046059 GRCh37: 1:226129062-226129062
GRCh38: 1:225941362-225941362
35 ACVR2B NM_001106.4(ACVR2B):c.*9317_*9318insT Insertion Uncertain significance 345046 rs1553679291 GRCh37: 3:38534140-38534141
GRCh38: 3:38492649-38492650
36 ACVR2B NM_001106.4(ACVR2B):c.*2364_*2365insC Insertion Uncertain significance 344966 rs886058400 GRCh37: 3:38527187-38527188
GRCh38: 3:38485696-38485697
37 ACVR2B NM_001106.4(ACVR2B):c.*5968_*5969CA[1] Microsatellite Uncertain significance 345006 rs779498082 GRCh37: 3:38530790-38530791
GRCh38: 3:38489299-38489300
38 ACVR2B NM_001106.4(ACVR2B):c.*2359_*2361del Deletion Uncertain significance 344964 rs59343196 GRCh37: 3:38527158-38527160
GRCh38: 3:38485667-38485669
39 ACVR2B NM_001106.4(ACVR2B):c.*9399_*9437delinsATT Indel Uncertain significance 345052 rs886058434 GRCh37: 3:38534222-38534260
GRCh38: 3:38492731-38492769
40 CERS1 , GDF1 NM_001492.6(GDF1):c.599G>A (p.Gly200Asp) SNV Uncertain significance 410639 rs573559104 GRCh37: 19:18979926-18979926
GRCh38: 19:18869117-18869117
41 CERS1 , GDF1 NM_001492.6(GDF1):c.404C>T (p.Ala135Val) SNV Uncertain significance 410640 rs944730356 GRCh37: 19:18980121-18980121
GRCh38: 19:18869312-18869312
42 CERS1 , GDF1 NM_001492.6(GDF1):c.190C>T (p.Arg64Cys) SNV Uncertain significance 410638 rs375610429 GRCh37: 19:18980927-18980927
GRCh38: 19:18870118-18870118
43 CERS1 , GDF1 NM_001492.6(GDF1):c.1044_1046CTT[1] (p.Phe350del) Microsatellite Uncertain significance 471935 rs1232905914 GRCh37: 19:18979476-18979478
GRCh38: 19:18868667-18868669
44 CERS1 , GDF1 NM_001492.6(GDF1):c.658C>A (p.Arg220Ser) SNV Uncertain significance 471937 rs1037827220 GRCh37: 19:18979867-18979867
GRCh38: 19:18869058-18869058
45 CERS1 , GDF1 NM_001492.6(GDF1):c.985C>T (p.Pro329Ser) SNV Uncertain significance 471940 rs760908706 GRCh37: 19:18979540-18979540
GRCh38: 19:18868731-18868731
46 CERS1 , GDF1 NM_001492.6(GDF1):c.788C>T (p.Pro263Leu) SNV Uncertain significance 471938 rs1555702266 GRCh37: 19:18979737-18979737
GRCh38: 19:18868928-18868928
47 CERS1 , GDF1 NM_001492.6(GDF1):c.549C>T (p.Leu183=) SNV Likely benign 539305 rs966648207 GRCh37: 19:18979976-18979976
GRCh38: 19:18869167-18869167
48 CERS1 , GDF1 NM_001492.6(GDF1):c.330G>T (p.Ala110=) SNV Likely benign 539306 rs773079354 GRCh37: 19:18980195-18980195
GRCh38: 19:18869386-18869386
49 CERS1 , GDF1 NM_001492.6(GDF1):c.120C>T (p.Leu40=) SNV Likely benign 471936 rs1555702693 GRCh37: 19:18980997-18980997
GRCh38: 19:18870188-18870188
50 CERS1 , GDF1 NM_001492.6(GDF1):c.537G>A (p.Gly179=) SNV Likely benign 416262 rs1060504781 GRCh37: 19:18979988-18979988
GRCh38: 19:18869179-18869179

Expression for Heterotaxy

Search GEO for disease gene expression data for Heterotaxy.

Pathways for Heterotaxy

Pathways related to Heterotaxy according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350
2 Cytokine-cytokine receptor interaction hsa04060

Pathways related to Heterotaxy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.81 ZIC3 NODAL ACVR2B
2 11.29 ZIC3 NODAL ACVR2B
3
Show member pathways
10.62 NODAL GDF1 CFC1 ACVR2B

GO Terms for Heterotaxy

Biological processes related to Heterotaxy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD protein signal transduction GO:0060395 9.46 NODAL GDF1
2 heart looping GO:0001947 9.43 ZIC3 NODAL
3 BMP signaling pathway GO:0030509 9.43 NODAL GDF1 ACVR2B
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.4 NODAL GDF1
5 gastrulation GO:0007369 9.37 NODAL CFC1
6 nodal signaling pathway GO:0038092 9.32 NODAL CFC1
7 anterior/posterior pattern specification GO:0009952 9.26 ZIC3 NODAL CFC1 ACVR2B
8 positive regulation of activin receptor signaling pathway GO:0032927 9.16 NODAL ACVR2B
9 determination of left/right symmetry GO:0007368 9.1 ZIC3 NODAL MMP21 GALNT11 CFC1 CFAP53

Sources for Heterotaxy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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