MCID: HTR014
MIFTS: 38

Heterotaxy, Visceral, 1, X-Linked

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Heterotaxy, Visceral, 1, X-Linked

MalaCards integrated aliases for Heterotaxy, Visceral, 1, X-Linked:

Name: Heterotaxy, Visceral, 1, X-Linked 57 53 75 73
Congenital Heart Defects, Multiple Types, 1, X-Linked 75 6 73
Heterotaxy, Visceral, X-Linked 53 29 6
Htx1 57 53 75
Situs Inversus, Complex Cardiac Defects, and Splenic Defects, X-Linked 57 53
Congenital Heart Defects, Nonsyndromic, 1, X-Linked 57 13
Dextrocardia with Other Cardiac Malformations 57 75
Laterality, X-Linked 57 53
Heterotaxy Syndrome 44 73
Situs Inversus with Complex Cardiac Defects and Splenic Defects X-Linked 75
X-Linked Congenital Heart Defects Nonsyndromic 1 75
X-Linked Congenital Heart Disease Nonsyndromic 1 75
Heterotaxy, Visceral, X-Linked, Type 1, 40
X-Linked Visceral Heterotaxy 1 53
Laterality X-Linked 75
Chtd1 75

Characteristics:

OMIM:

57
Miscellaneous:
highly variable phenotype
heterozygous females may have situs inversus or other midline defects

Inheritance:
x-linked recessive


HPO:

32
heterotaxy, visceral, 1, x-linked:
Onset and clinical course phenotypic variability
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



Summaries for Heterotaxy, Visceral, 1, X-Linked

UniProtKB/Swiss-Prot : 75 Congenital heart defects, multiple types, 1, X-linked: A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. Heterotaxy, visceral, 1, X-linked: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations.

MalaCards based summary : Heterotaxy, Visceral, 1, X-Linked, also known as congenital heart defects, multiple types, 1, x-linked, is related to heterotaxy and cardiac anomalies-heterotaxy syndrome. An important gene associated with Heterotaxy, Visceral, 1, X-Linked is ZIC3 (Zic Family Member 3). Affiliated tissues include heart, spleen and lung, and related phenotypes are renal agenesis and hypertelorism

NIH Rare Diseases : 53 X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia). Affected individuals can also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.

Description from OMIM: 306955

Related Diseases for Heterotaxy, Visceral, 1, X-Linked

Diseases related to Heterotaxy, Visceral, 1, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 heterotaxy 11.9
2 cardiac anomalies-heterotaxy syndrome 11.8
3 atrioventricular septal defect 2 11.1
4 asplenia, isolated congenital 11.0
5 pancreas, dorsal, agenesis of 10.9
6 right atrial isomerism 10.9
7 heterotaxy, visceral, 5, autosomal 10.9
8 heterotaxy, visceral, 2, autosomal 10.9
9 heterotaxy, visceral, 3, autosomal 10.9
10 heterotaxy, visceral, 4, autosomal 10.9
11 heterotaxy, visceral, 7, autosomal 10.9
12 heterotaxy, visceral, 8, autosomal 10.9
13 hepatitis 10.0
14 heart disease 10.0
15 atrioventricular septal defect 9.9
16 visceral heterotaxy 9.9
17 aortic coarctation 9.9
18 pulmonary hypertension 9.8
19 atrioventricular block 9.8
20 double outlet right ventricle 9.8
21 dextrocardia 9.8
22 levocardia 9.8
23 tracheoesophageal fistula with or without esophageal atresia 9.7
24 meckel syndrome, type 1 9.7
25 pulmonary arteriovenous fistulas 9.7
26 budd-chiari syndrome 9.7
27 patent ductus arteriosus 1 9.7
28 diabetes mellitus 9.7
29 esophageal atresia 9.7
30 arteriovenous malformation 9.7
31 esophagitis 9.7
32 subclavian steal syndrome 9.7
33 duodenal obstruction 9.7
34 pancreatitis 9.7
35 duodenitis 9.7
36 aortopulmonary window 9.7
37 complete atrioventricular canal 9.7
38 gastric duplication cysts 9.7
39 isolated levocardia 9.7
40 pulmonary arteriovenous malformation 9.7
41 pulmonary vein stenosis 9.7
42 pulmonary venous return anomaly 9.7

Graphical network of the top 20 diseases related to Heterotaxy, Visceral, 1, X-Linked:



Diseases related to Heterotaxy, Visceral, 1, X-Linked

Symptoms & Phenotypes for Heterotaxy, Visceral, 1, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Cardiovascular Heart:
cardiomegaly
atrial septal defect
ventricular septal defect
dextrocardia
pulmonary valve stenosis
more
AbdomenSpleen:
asplenia
polysplenia

Skeletal Spine:
sacral agenesis

Respiratory:
severe respiratory distress at birth

Abdomen Biliary Tract:
extrahepatic biliary atresia

Genitourinary Internal Genitalia Female:
uterine septum

Growth Other:
failure to thrive

Cardiovascular Vascular:
patent ductus arteriosus
transposition of the great arteries
hypoplastic pulmonary arteries

Genitourinary Kidneys:
renal agenesis

Abdomen:
situs inversus viscerum

Respiratory Lung:
lung lobation defects
bilobed right lung

Abdomen Gastrointestinal:
malrotation of the bowel
duodenal obstruction
posteriorly placed anus
rectal stenosis

Skin Nails Hair Skin:
cyanosis due to respiratory insufficiency


Clinical features from OMIM:

306955

Human phenotypes related to Heterotaxy, Visceral, 1, X-Linked:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 renal agenesis 32 HP:0000104
2 hypertelorism 32 HP:0000316
3 failure to thrive 32 HP:0001508
4 ventricular septal defect 32 HP:0001629
5 atrial septal defect 32 HP:0001631
6 cardiomegaly 32 HP:0001640
7 pulmonic stenosis 32 HP:0001642
8 patent ductus arteriosus 32 HP:0001643
9 dextrocardia 32 HP:0001651
10 transposition of the great arteries 32 HP:0001669
11 asplenia 32 HP:0001746
12 polysplenia 32 HP:0001748
13 single ventricle 32 HP:0001750
14 abdominal situs inversus 32 HP:0003363
15 mitral atresia 32 HP:0011560
16 common atrium 32 HP:0011565
17 posteriorly placed anus 32 HP:0012890

Drugs & Therapeutics for Heterotaxy, Visceral, 1, X-Linked

Search Clinical Trials , NIH Clinical Center for Heterotaxy, Visceral, 1, X-Linked

Cochrane evidence based reviews: heterotaxy syndrome

Genetic Tests for Heterotaxy, Visceral, 1, X-Linked

Genetic tests related to Heterotaxy, Visceral, 1, X-Linked:

# Genetic test Affiliating Genes
1 Heterotaxy, Visceral, X-Linked 29 ZIC3

Anatomical Context for Heterotaxy, Visceral, 1, X-Linked

MalaCards organs/tissues related to Heterotaxy, Visceral, 1, X-Linked:

41
Heart, Spleen, Lung, Liver, Eye, Pancreas, Pituitary

Publications for Heterotaxy, Visceral, 1, X-Linked

Articles related to Heterotaxy, Visceral, 1, X-Linked:

(show top 50) (show all 153)
# Title Authors Year
1
Heterotaxy Syndrome. ( 29544591 )
2018
2
Atypical perioperative management for duodenal obstruction in an infant with heterotaxy syndrome: a case report. ( 29479560 )
2018
3
Heterotaxy syndrome with intestinal malrotation, polysplenia and azygos continuity. ( 29383228 )
2018
4
Vascular and Splenic Abnormalities in Heterotaxy Syndrome. ( 29289273 )
2018
5
Classifying Heterotaxy Syndrome: Time for a New Approach. ( 29444812 )
2018
6
Malrotation is not associated with adverse outcomes after cardiac surgery in patients with heterotaxy syndrome. ( 29453132 )
2018
7
Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects. ( 29843777 )
2018
8
Comparing levocardia and dextrocardia in fetuses with heterotaxy syndrome: prenatal features, clinical significance and outcomes. ( 29169330 )
2017
9
Fetal echocardiographic evaluation in cases of heterotaxy syndrome. ( 28594083 )
2017
10
Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome. ( 28690992 )
2017
11
Pneumococcal vaccination and efficacy in patients with heterotaxy syndrome. ( 28419083 )
2017
12
Heterotaxy syndrome and associated arrhythmias in pediatric patients. ( 29154821 )
2017
13
The Missing Link: A Case of Absent Pituitary Infundibulum and Ectopic Neurohypophysis in a Pediatric Patient with Heterotaxy Syndrome. ( 29299107 )
2017
14
Noncompaction cardiomyopathy and heterotaxy syndrome. ( 29445263 )
2017
15
"Twin" Biliary Trees in a Patient with Heterotaxy Syndrome. ( 27504813 )
2016
16
Fetal Situs, Isomerism, Heterotaxy Syndrome: Diagnostic Evaluation and Implication for Postnatal Management. ( 27844411 )
2016
17
Heterotaxy syndrome with and without spleen: Different infection risk and management. ( 27864025 )
2016
18
Left-Right Asymmetry and Human Heterotaxy Syndrome ( 29787107 )
2016
19
Outcomes of multistage palliation of infants with functional single ventricle and heterotaxy syndrome. ( 27085618 )
2016
20
Twin Atrioventricular Nodal Reentrant Tachycardia Associated with Heterotaxy Syndrome with Malaligned Atrioventricular Canal Defect and Atrioventricular Discordance. ( 26920197 )
2016
21
The concept of "palliation" in children with heterotaxy syndrome. ( 27085619 )
2016
22
When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome. ( 26991659 )
2016
23
Fontan Operation in a Patient with Severe Hypoplastic Right Pulmonary Artery, Single Ventricle, and Heterotaxy Syndrome. ( 27713611 )
2016
24
Pulmonary Hypertension in a Patient With Congenital Heart Defects and Heterotaxy Syndrome. ( 27660582 )
2016
25
Predictors of poor outcome among children with heterotaxy syndrome: a retrospective review. ( 27843561 )
2016
26
Extracardiac anomalies in prenatally diagnosed heterotaxy syndromes. ( 25847110 )
2015
27
Anaesthetic management of a rare case of single ventricle heterotaxy syndrome for emergency caesarean section. ( 26257419 )
2015
28
Contemporary Outcomes of Surgical Repair of Total Anomalous Pulmonary Venous Connection in Patients With Heterotaxy Syndrome. ( 25912749 )
2015
29
An unusual occurrence: a case of venous thromboembolism in pregnancy associated with heterotaxy syndrome. ( 26052441 )
2015
30
Aortic pseudocoarctation associated with polysplenia/heterotaxy syndrome. ( 25583627 )
2015
31
Orthotopic Heart Transplantation in an Adult Patient with Heterotaxy Syndrome: Surgical Implications. ( 26450654 )
2015
32
Early- and Middle-Term Surgical Outcomes in Patients with Heterotaxy Syndrome. ( 26571485 )
2015
33
Heterotaxy syndrome and intestinal rotational anomalies: Impact of the Ladd procedure. ( 25783348 )
2015
34
Heterotaxy syndrome infants are at risk for early shunt failure after Ladd procedure. ( 25595831 )
2015
35
Heterotaxy Syndrome: Proceedings From the 10th International PCICS Meeting. ( 26467876 )
2015
36
Low Immunoglobulin M Memory B Cell percentage in patients with Heterotaxy Syndrome Correlates with the Risk of Severe Bacterial Infection. ( 26524717 )
2015
37
Decreased baseline variability on fetal heart rate pattern in a fetus with heterotaxy syndrome. ( 26421346 )
2015
38
Racial disparities in heterotaxy syndrome. ( 26333177 )
2015
39
Duplication and deletion of CFC1 associated with heterotaxy syndrome. ( 25423076 )
2015
40
Comparison of situs ambiguous patterns between heterotaxy syndromes with polysplenia and asplenia. ( 26304785 )
2015
41
Heterotaxy syndrome with esophageal atresia. ( 25648294 )
2015
42
Observation versus prophylactic Ladd for asymptomatic intestinal rotational abnormalities in heterotaxy syndrome: A systematic review. ( 26358665 )
2015
43
Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome. ( 26612104 )
2015
44
Heterotaxy syndrome and malrotation: does isomerism influence risk and decision to treat. ( 24888838 )
2014
45
Birth of a healthy boy after PGD for X-linked heterotaxy syndrome. ( 24870704 )
2014
46
Heterotaxy syndromes and abnormal bowel rotation. ( 24419494 )
2014
47
Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome. ( 24643152 )
2014
48
Non-cardiac issues in patients with heterotaxy syndrome. ( 25298693 )
2014
49
Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia). ( 24996551 )
2014
50
Management and outcomes of heterotaxy syndrome associated with pulmonary atresia or pulmonary stenosis. ( 24793683 )
2014

Variations for Heterotaxy, Visceral, 1, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 1, X-Linked:

75
# Symbol AA change Variation ID SNP ID
1 ZIC3 p.Thr323Met VAR_007753 rs122462165
2 ZIC3 p.Pro217Ala VAR_025632 rs104894963
3 ZIC3 p.Cys253Ser VAR_025633 rs104894961
4 ZIC3 p.His286Arg VAR_025634
5 ZIC3 p.Lys405Glu VAR_025635 rs104894962
6 ZIC3 p.Trp255Gly VAR_042416 rs122463168
7 ZIC3 p.Ser109Cys VAR_071332 rs373628598
8 ZIC3 p.Ala447Gly VAR_071334

ClinVar genetic disease variations for Heterotaxy, Visceral, 1, X-Linked:

6
(show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZIC3 NM_003413.3(ZIC3): c.968C> T (p.Thr323Met) single nucleotide variant Pathogenic rs122462165 GRCh37 Chromosome X, 136649818: 136649818
2 ZIC3 NM_003413.3(ZIC3): c.968C> T (p.Thr323Met) single nucleotide variant Pathogenic rs122462165 GRCh38 Chromosome X, 137567659: 137567659
3 ZIC3 NM_003413.3(ZIC3): c.804C> A (p.Cys268Ter) single nucleotide variant Pathogenic rs122462166 GRCh37 Chromosome X, 136649654: 136649654
4 ZIC3 NM_003413.3(ZIC3): c.804C> A (p.Cys268Ter) single nucleotide variant Pathogenic rs122462166 GRCh38 Chromosome X, 137567495: 137567495
5 ZIC3 NM_003413.3(ZIC3): c.1222A> T (p.Lys408Ter) single nucleotide variant Pathogenic rs387906498 GRCh37 Chromosome X, 136651222: 136651222
6 ZIC3 NM_003413.3(ZIC3): c.1222A> T (p.Lys408Ter) single nucleotide variant Pathogenic rs387906498 GRCh38 Chromosome X, 137569063: 137569063
7 ZIC3 NM_003413.3(ZIC3): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic rs104894960 GRCh37 Chromosome X, 136649595: 136649595
8 ZIC3 NM_003413.3(ZIC3): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic rs104894960 GRCh38 Chromosome X, 137567436: 137567436
9 ZIC3 NM_003413.3(ZIC3): c.758G> C (p.Cys253Ser) single nucleotide variant Pathogenic rs104894961 GRCh37 Chromosome X, 136649608: 136649608
10 ZIC3 NM_003413.3(ZIC3): c.758G> C (p.Cys253Ser) single nucleotide variant Pathogenic rs104894961 GRCh38 Chromosome X, 137567449: 137567449
11 ZIC3 NM_003413.3(ZIC3): c.1213A> G (p.Lys405Glu) single nucleotide variant Pathogenic rs104894962 GRCh37 Chromosome X, 136651213: 136651213
12 ZIC3 NM_003413.3(ZIC3): c.1213A> G (p.Lys405Glu) single nucleotide variant Pathogenic rs104894962 GRCh38 Chromosome X, 137569054: 137569054
13 ZIC3 ZIC3, 2-BP INS, 1507TT insertion Pathogenic
14 ZIC3 NM_003413.3(ZIC3): c.763T> G (p.Trp255Gly) single nucleotide variant Pathogenic rs122463168 GRCh37 Chromosome X, 136649613: 136649613
15 ZIC3 NM_003413.3(ZIC3): c.763T> G (p.Trp255Gly) single nucleotide variant Pathogenic rs122463168 GRCh38 Chromosome X, 137567454: 137567454
16 ZIC3 NM_003413.3(ZIC3): c.49G> T (p.Gly17Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147232392 GRCh37 Chromosome X, 136648899: 136648899
17 ZIC3 NM_003413.3(ZIC3): c.49G> T (p.Gly17Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147232392 GRCh38 Chromosome X, 137566740: 137566740
18 ZIC3 NM_003413.3(ZIC3): c.1194G> T (p.Thr398=) single nucleotide variant Conflicting interpretations of pathogenicity rs143990850 GRCh37 Chromosome X, 136651194: 136651194
19 ZIC3 NM_003413.3(ZIC3): c.1194G> T (p.Thr398=) single nucleotide variant Conflicting interpretations of pathogenicity rs143990850 GRCh38 Chromosome X, 137569035: 137569035
20 ZIC3 NM_003413.3(ZIC3): c.(?_-1)_(*1_?)del deletion Pathogenic
21 ZIC3 NM_003413.3(ZIC3): c.-505-?_*2030+?dup duplication Uncertain significance
22 ZIC3 NM_003413.3(ZIC3): c.912G> A (p.Arg304=) single nucleotide variant Benign rs10126585 GRCh37 Chromosome X, 136649762: 136649762
23 ZIC3 NM_003413.3(ZIC3): c.912G> A (p.Arg304=) single nucleotide variant Benign rs10126585 GRCh38 Chromosome X, 137567603: 137567603
24 ZIC3 NM_003413.3(ZIC3): c.159_161dupCGC (p.Ala55_Phe56insAla) duplication Conflicting interpretations of pathogenicity rs886038530 GRCh37 Chromosome X, 136649009: 136649011
25 ZIC3 NM_003413.3(ZIC3): c.159_161dupCGC (p.Ala55_Phe56insAla) duplication Conflicting interpretations of pathogenicity rs886038530 GRCh38 Chromosome X, 137566850: 137566852
26 ZIC3 NM_003413.3(ZIC3): c.764G> C (p.Trp255Ser) single nucleotide variant Likely pathogenic rs886041111 GRCh38 Chromosome X, 137567455: 137567455
27 ZIC3 NM_003413.3(ZIC3): c.764G> C (p.Trp255Ser) single nucleotide variant Likely pathogenic rs886041111 GRCh37 Chromosome X, 136649614: 136649614
28 ZIC3 NM_003413.3(ZIC3): c.1025delC (p.Ser342Leufs) deletion Pathogenic rs886042663 GRCh37 Chromosome X, 136649875: 136649875
29 ZIC3 NM_003413.3(ZIC3): c.1025delC (p.Ser342Leufs) deletion Pathogenic rs886042663 GRCh38 Chromosome X, 137567716: 137567716
30 ZIC3 NM_003413.3(ZIC3): c.131C> G (p.Thr44Ser) single nucleotide variant Likely benign rs78870836 GRCh37 Chromosome X, 136648981: 136648981
31 ZIC3 NM_003413.3(ZIC3): c.131C> G (p.Thr44Ser) single nucleotide variant Likely benign rs78870836 GRCh38 Chromosome X, 137566822: 137566822
32 ZIC3 NM_003413.3(ZIC3): c.*1540G> A single nucleotide variant Likely benign rs184855783 GRCh37 Chromosome X, 136653769: 136653769
33 ZIC3 NM_003413.3(ZIC3): c.*1540G> A single nucleotide variant Likely benign rs184855783 GRCh38 Chromosome X, 137571610: 137571610
34 ZIC3 NM_003413.3(ZIC3): c.-479C> T single nucleotide variant Uncertain significance rs1022475218 GRCh37 Chromosome X, 136648372: 136648372
35 ZIC3 NM_003413.3(ZIC3): c.-479C> T single nucleotide variant Uncertain significance rs1022475218 GRCh38 Chromosome X, 137566213: 137566213
36 ZIC3 NM_003413.3(ZIC3): c.906C> T (p.Cys302=) single nucleotide variant Likely benign rs779221820 GRCh37 Chromosome X, 136649756: 136649756
37 ZIC3 NM_003413.3(ZIC3): c.906C> T (p.Cys302=) single nucleotide variant Likely benign rs779221820 GRCh38 Chromosome X, 137567597: 137567597
38 ZIC3 NM_003413.3(ZIC3): c.*1189A> G single nucleotide variant Likely benign rs41300285 GRCh37 Chromosome X, 136653418: 136653418
39 ZIC3 NM_003413.3(ZIC3): c.*1189A> G single nucleotide variant Likely benign rs41300285 GRCh38 Chromosome X, 137571259: 137571259
40 ZIC3 NM_003413.3(ZIC3): c.*1237A> T single nucleotide variant Uncertain significance rs772508899 GRCh37 Chromosome X, 136653466: 136653466
41 ZIC3 NM_003413.3(ZIC3): c.*1237A> T single nucleotide variant Uncertain significance rs772508899 GRCh38 Chromosome X, 137571307: 137571307
42 ZIC3 NM_003413.3(ZIC3): c.*2024G> C single nucleotide variant Likely benign rs113057036 GRCh37 Chromosome X, 136654253: 136654253
43 ZIC3 NM_003413.3(ZIC3): c.*2024G> C single nucleotide variant Likely benign rs113057036 GRCh38 Chromosome X, 137572094: 137572094
44 ZIC3 NM_003413.3(ZIC3): c.*489A> G single nucleotide variant Likely benign rs183286584 GRCh37 Chromosome X, 136652718: 136652718
45 ZIC3 NM_003413.3(ZIC3): c.*489A> G single nucleotide variant Likely benign rs183286584 GRCh38 Chromosome X, 137570559: 137570559
46 ZIC3 NM_003413.3(ZIC3): c.*1171_*1173delTTT deletion Uncertain significance rs1057515786 GRCh37 Chromosome X, 136653400: 136653402
47 ZIC3 NM_003413.3(ZIC3): c.*1171_*1173delTTT deletion Uncertain significance rs1057515786 GRCh38 Chromosome X, 137571241: 137571243
48 ZIC3 NM_003413.3(ZIC3): c.*41A> G single nucleotide variant Likely benign rs12387258 GRCh37 Chromosome X, 136652270: 136652270
49 ZIC3 NM_003413.3(ZIC3): c.*41A> G single nucleotide variant Likely benign rs12387258 GRCh38 Chromosome X, 137570111: 137570111
50 ZIC3 NM_003413.3(ZIC3): c.*798_*802delTTTGT deletion Uncertain significance rs1057515785 GRCh37 Chromosome X, 136653027: 136653031

Expression for Heterotaxy, Visceral, 1, X-Linked

Search GEO for disease gene expression data for Heterotaxy, Visceral, 1, X-Linked.

Pathways for Heterotaxy, Visceral, 1, X-Linked

GO Terms for Heterotaxy, Visceral, 1, X-Linked

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