HTX1
MCID: HTR014
MIFTS: 39

Heterotaxy, Visceral, 1, X-Linked (HTX1)

Categories: Genetic diseases, Immune diseases, Rare diseases, Respiratory 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 20 72 29 6 70
Congenital Heart Defects, Multiple Types, 1, X-Linked 72 6 70
Congenital Heart Defects, Nonsyndromic, 1, X-Linked 57 29 13
Htx1 57 20 72
Situs Inversus, Complex Cardiac Defects, and Splenic Defects, X-Linked 57 20
Dextrocardia with Other Cardiac Malformations 57 72
Heterotaxy, Visceral, X-Linked 20 17
Laterality, X-Linked 57 20
Heterotaxy Syndrome 44 70
Situs Inversus with Complex Cardiac Defects and Splenic Defects X-Linked 72
X-Linked Congenital Heart Defects Nonsyndromic 1 72
X-Linked Congenital Heart Disease Nonsyndromic 1 72
Heterotaxy, Visceral, X-Linked, Type 1 39
X-Linked Visceral Heterotaxy 1 20
Laterality X-Linked 72
Chtd1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
highly variable phenotype
heterozygous females may have situs inversus or other midline defects

Inheritance:
x-linked recessive


HPO:

31
heterotaxy, visceral, 1, x-linked:
Inheritance x-linked recessive inheritance
Onset and clinical course phenotypic variability


Classifications:



Summaries for Heterotaxy, Visceral, 1, X-Linked

UniProtKB/Swiss-Prot : 72 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 be associated with a 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 atrioventricular septal defect 2. An important gene associated with Heterotaxy, Visceral, 1, X-Linked is ZIC3 (Zic Family Member 3). The drug Kava has been mentioned in the context of this disorder. Affiliated tissues include heart, spleen and lung, and related phenotypes are low-set ears and horseshoe kidney

GARD : 20 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.

More information from OMIM: 306955 PS306955

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 top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 heterotaxy 11.7
2 atrioventricular septal defect 2 11.3
3 primary ciliary dyskinesia 11.1
4 right atrial isomerism 11.1
5 visceral heterotaxy 11.1
6 cardiac anomalies-heterotaxy syndrome 11.0
7 pancreas, dorsal, agenesis of 11.0
8 heterotaxy, visceral, 5, autosomal 10.9
9 heterotaxy, visceral, 2, autosomal 10.9
10 heterotaxy, visceral, 3, autosomal 10.9
11 heterotaxy, visceral, 4, autosomal 10.9
12 heterotaxy, visceral, 7, autosomal 10.9
13 heterotaxy, visceral, 8, autosomal 10.9
14 heterotaxy, visceral, 9, autosomal, with male infertility 10.9
15 single ventricular heart 10.6
16 heart septal defect 10.3
17 volvulus of midgut 10.3
18 atrioventricular septal defect 10.3
19 dextrocardia 10.3
20 double outlet right ventricle 10.3
21 situs inversus 10.3
22 heart disease 10.2
23 atrioventricular block 10.2
24 pulmonary vein stenosis 10.2
25 cyanosis, transient neonatal 10.1
26 dextro-looped transposition of the great arteries 10.1
27 complete atrioventricular canal 10.1
28 pulmonary venous return anomaly 10.1
29 univentricular heart 10.1
30 arteriovenous malformation 10.1
31 coarctation of aorta 10.0
32 tetralogy of fallot 10.0
33 pulmonary hypertension 10.0
34 sinoatrial node disease 10.0
35 esophageal atresia 10.0
36 biliary atresia 10.0
37 sick sinus syndrome 10.0
38 ventricular septal defect 10.0
39 pulmonary valve stenosis 10.0
40 intestinal obstruction 10.0
41 dextrocardia with situs inversus 10.0
42 encephalocele 10.0
43 levocardia 10.0
44 pulmonary artery hypoplasia 10.0
45 atrial standstill 1 9.8
46 cleft palate, isolated 9.8
47 hernia, hiatus 9.8
48 pancreas, annular 9.8
49 chromosome 2q35 duplication syndrome 9.8
50 thrombophilia due to thrombin defect 9.8

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

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

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 very rare (1%) HP:0000369
2 horseshoe kidney 31 very rare (1%) HP:0000085
3 anal atresia 31 very rare (1%) HP:0002023
4 patent ductus arteriosus 31 very rare (1%) HP:0001643
5 abdominal situs inversus 31 very rare (1%) HP:0003363
6 omphalocele 31 very rare (1%) HP:0001539
7 asplenia 31 very rare (1%) HP:0001746
8 transposition of the great arteries 31 very rare (1%) HP:0001669
9 double outlet right ventricle 31 very rare (1%) HP:0001719
10 single ventricle 31 very rare (1%) HP:0001750
11 failure to thrive 31 HP:0001508
12 hypertelorism 31 HP:0000316
13 cardiomegaly 31 HP:0001640
14 atrial septal defect 31 HP:0001631
15 ventricular septal defect 31 HP:0001629
16 pulmonic stenosis 31 HP:0001642
17 dextrocardia 31 HP:0001651
18 respiratory distress 31 HP:0002098
19 mitral atresia 31 HP:0011560
20 cyanosis 31 HP:0000961
21 absence of the sacrum 31 HP:0010305
22 renal agenesis 31 HP:0000104
23 polysplenia 31 HP:0001748
24 common atrium 31 HP:0011565
25 biliary atresia 31 HP:0005912
26 posteriorly placed anus 31 HP:0012890

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Cardiovascular Heart:
cardiomegaly
atrial septal defect
ventricular septal defect
dextrocardia
single ventricle
more
Abdomen Spleen:
asplenia
polysplenia

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

Abdomen:
situs inversus viscerum

Respiratory Lung:
lung lobation defects
bilobed right lung

Genitourinary Internal Genitalia Female:
uterine septum

Head And Neck Eyes:
hypertelorism

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

Genitourinary Kidneys:
renal agenesis

Skeletal Spine:
sacral agenesis

Respiratory:
severe respiratory distress at birth

Abdomen Biliary Tract:
extrahepatic biliary atresia

Skin Nails Hair Skin:
cyanosis due to respiratory insufficiency

Clinical features from OMIM®:

306955 (Updated 05-Apr-2021)

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

Drugs for Heterotaxy, Visceral, 1, X-Linked (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, 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, 1, X-Linked 29 ZIC3
2 Congenital Heart Defects, Nonsyndromic, 1, X-Linked 29

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

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

40
Heart, Spleen, Lung, Kidney

Publications for Heterotaxy, Visceral, 1, X-Linked

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

(show all 20)
# Title Authors PMID Year
1
X-linked situs abnormalities result from mutations in ZIC3. 57 6 61
9354794 1997
2
Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. 6 57
17295247 2007
3
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. 57 6
14681828 2004
4
X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. 6 57
10980576 2000
5
X-linked laterality sequence: situs inversus, complex cardiac defects, splenic defects. 57 6
3674105 1987
6
A submicroscopic deletion in Xq26 associated with familial situs ambiguus. 57 61
9311745 1997
7
Sumoylation regulates nuclear localization and function of zinc finger transcription factor ZIC3. 6
23872418 2013
8
A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q. 57
21386876 2011
9
From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. 57
21465648 2011
10
Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain. 6
18716025 2008
11
Double outlet right ventricle: aetiologies and associations. 57
18456715 2008
12
Characterization of the interactions of human ZIC3 mutants with GLI3. 6
17764085 2008
13
Left, right ... which way to turn? 57
9354777 1997
14
X-linked laterality sequence in a family with carrier manifestations. 57
8160739 1994
15
Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. 57
8298651 1993
16
Hereditary dextrocardia associated with other congenital heart defects: report of a pedigree. 57
4839027 1974
17
Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway. 61
16496285 2006
18
Zic3 is critical for early embryonic patterning during gastrulation. 61
16397896 2006
19
Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene? 61
15470371 2005
20
A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. 61
11959836 2002

Variations for Heterotaxy, Visceral, 1, X-Linked

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

6 (show top 50) (show all 68)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZIC3 NM_003413.4(ZIC3):c.968C>T (p.Thr323Met) SNV Pathogenic 11433 rs122462165 GRCh37: X:136649818-136649818
GRCh38: X:137567659-137567659
2 ZIC3 NM_003413.4(ZIC3):c.804C>A (p.Cys268Ter) SNV Pathogenic 11434 rs122462166 GRCh37: X:136649654-136649654
GRCh38: X:137567495-137567495
3 ZIC3 NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter) SNV Pathogenic 11436 rs104894960 GRCh37: X:136649595-136649595
GRCh38: X:137567436-137567436
4 ZIC3 NM_003413.4(ZIC3):c.758G>C (p.Cys253Ser) SNV Pathogenic 11437 rs104894961 GRCh37: X:136649608-136649608
GRCh38: X:137567449-137567449
5 ZIC3 NM_003413.4(ZIC3):c.1213A>G (p.Lys405Glu) SNV Pathogenic 11438 rs104894962 GRCh37: X:136651213-136651213
GRCh38: X:137569054-137569054
6 ZIC3 ZIC3, 2-BP INS, 1507TT Insertion Pathogenic 11440 GRCh37:
GRCh38:
7 ZIC3 NM_003413.4(ZIC3):c.763T>G (p.Trp255Gly) SNV Pathogenic 11441 rs122463168 GRCh37: X:136649613-136649613
GRCh38: X:137567454-137567454
8 ZIC3 NM_003413.3(ZIC3):c.(?_-1)_(*1_?)del Deletion Pathogenic 216089 GRCh37:
GRCh38:
9 ZIC3 NM_003413.4(ZIC3):c.476_479del (p.Tyr159fs) Deletion Pathogenic 464967 rs1556029841 GRCh37: X:136649325-136649328
GRCh38: X:137567166-137567169
10 ZIC3 NM_003413.4(ZIC3):c.535dup (p.Val179fs) Duplication Pathogenic 570392 rs1569345723 GRCh37: X:136649384-136649385
GRCh38: X:137567225-137567226
11 ZIC3 NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter) SNV Pathogenic 545552 rs1203069392 GRCh37: X:136649605-136649605
GRCh38: X:137567446-137567446
12 ZIC3 NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser) SNV Pathogenic 545553 rs122463167 GRCh37: X:136649607-136649607
GRCh38: X:137567448-137567448
13 ZIC3 NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter) SNV Pathogenic 545554 rs1569345504 GRCh37: X:136648978-136648978
GRCh38: X:137566819-137566819
14 ZIC3 NM_003413.4(ZIC3):c.593_609del (p.Pro198fs) Deletion Pathogenic 545555 rs1569345742 GRCh37: X:136649441-136649457
GRCh38: X:137567282-137567298
15 ZIC3 NM_003413.4(ZIC3):c.571del (p.Glu191fs) Deletion Pathogenic 645837 rs1602742808 GRCh37: X:136649418-136649418
GRCh38: X:137567259-137567259
16 ZIC3 NM_003413.4(ZIC3):c.128C>G (p.Ser43Ter) SNV Pathogenic 853140 GRCh37: X:136648978-136648978
GRCh38: X:137566819-137566819
17 ZIC3 NM_003413.4(ZIC3):c.508_514del (p.Ala170fs) Deletion Pathogenic 951637 GRCh37: X:136649354-136649360
GRCh38: X:137567195-137567201
18 overlap with 543 genes NC_000023.10:g.36649710_136649711del100000002insG Indel Pathogenic 545551 GRCh37: X:36649710-136649711
GRCh38:
19 ZIC3 NM_003413.4(ZIC3):c.1222A>T (p.Lys408Ter) SNV Pathogenic 11435 rs387906498 GRCh37: X:136651222-136651222
GRCh38: X:137569063-137569063
20 ZIC3 NM_003413.4(ZIC3):c.958C>T (p.Arg320Ter) SNV Likely pathogenic 816872 rs1602743059 GRCh37: X:136649808-136649808
GRCh38: X:137567649-137567649
21 ZIC3 NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser) SNV Likely pathogenic 279591 rs886041111 GRCh37: X:136649614-136649614
GRCh38: X:137567455-137567455
22 ZIC3 NM_003413.4(ZIC3):c.135_137CGC[8] (p.Ala55del) Microsatellite Conflicting interpretations of pathogenicity 573248 rs748325646 GRCh37: X:136649009-136649011
GRCh38: X:137566826-137566828
23 ZIC3 NM_003413.4(ZIC3):c.1050G>C (p.Arg350Ser) SNV Uncertain significance 567684 rs1569345912 GRCh37: X:136649900-136649900
GRCh38: X:137567741-137567741
24 ZIC3 NM_003413.4(ZIC3):c.882C>G (p.Asn294Lys) SNV Uncertain significance 570089 rs1298851009 GRCh37: X:136649732-136649732
GRCh38: X:137567573-137567573
25 ZIC3 NM_003413.4(ZIC3):c.135_137CGC[7] (p.Ala54_Ala55del) Microsatellite Uncertain significance 664421 rs748325646 GRCh37: X:136648985-136648990
GRCh38: X:137566826-137566831
26 ZIC3 NM_003413.3(ZIC3):c.-505-?_*2030+?dup Duplication Uncertain significance 239538 GRCh37:
GRCh38:
27 ZIC3 NM_003413.4(ZIC3):c.*798_*802del Deletion Uncertain significance 367957 rs899320157 GRCh37: X:136653023-136653027
GRCh38: X:137570864-137570868
28 ZIC3 NM_003413.4(ZIC3):c.*1237A>T SNV Uncertain significance 367960 rs772508899 GRCh37: X:136653466-136653466
GRCh38: X:137571307-137571307
29 ZIC3 NM_003413.4(ZIC3):c.*1171_*1173del Deletion Uncertain significance 367958 rs1057515786 GRCh37: X:136653400-136653402
GRCh38: X:137571241-137571243
30 ZIC3 NM_003413.4(ZIC3):c.135_137CGC[11] (p.Ala54_Ala55dup) Microsatellite Uncertain significance 411872 rs748325646 GRCh37: X:136648984-136648985
GRCh38: X:137566825-137566826
31 ZIC3 NM_003413.4(ZIC3):c.1069C>A (p.Pro357Thr) SNV Uncertain significance 464969 rs1556030199 GRCh37: X:136651069-136651069
GRCh38: X:137568910-137568910
32 ZIC3 NM_003413.4(ZIC3):c.*1715A>G SNV Uncertain significance 367962 rs1057515787 GRCh37: X:136653944-136653944
GRCh38: X:137571785-137571785
33 ZIC3 NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser) SNV Uncertain significance 367953 rs78870836 GRCh37: X:136648981-136648981
GRCh38: X:137566822-137566822
34 ZIC3 NM_003413.4(ZIC3):c.-479C>T SNV Uncertain significance 367952 rs1022475218 GRCh37: X:136648372-136648372
GRCh38: X:137566213-137566213
35 ZIC3 NM_003413.4(ZIC3):c.*1540G>A SNV Uncertain significance 367961 rs184855783 GRCh37: X:136653769-136653769
GRCh38: X:137571610-137571610
36 ZIC3 NM_003413.4(ZIC3):c.105G>A (p.Met35Ile) SNV Uncertain significance 1033580 GRCh37: X:136648955-136648955
GRCh38: X:137566796-137566796
37 ZIC3 NM_003413.4(ZIC3):c.326C>G (p.Ser109Cys) SNV Uncertain significance 1044413 GRCh37: X:136649176-136649176
GRCh38: X:137567017-137567017
38 ZIC3 NM_003413.4(ZIC3):c.1211G>T (p.Arg404Leu) SNV Uncertain significance 1020263 GRCh37: X:136651211-136651211
GRCh38: X:137569052-137569052
39 ZIC3 NM_003413.4(ZIC3):c.1161del (p.Tyr388fs) Deletion Uncertain significance 853122 GRCh37: X:136651159-136651159
GRCh38: X:137569000-137569000
40 ZIC3 NM_003413.4(ZIC3):c.984C>G (p.Phe328Leu) SNV Uncertain significance 936067 GRCh37: X:136649834-136649834
GRCh38: X:137567675-137567675
41 ZIC3 NM_003413.4(ZIC3):c.1184_1192del (p.Lys395_Tyr397del) Deletion Uncertain significance 959314 GRCh37: X:136651181-136651189
GRCh38: X:137569022-137569030
42 ZIC3 NM_003413.4(ZIC3):c.92A>T (p.Glu31Val) SNV Uncertain significance 961872 GRCh37: X:136648942-136648942
GRCh38: X:137566783-137566783
43 ZIC3 NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) SNV Uncertain significance 11439 rs104894963 GRCh37: X:136649499-136649499
GRCh38: X:137567340-137567340
44 ZIC3 NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser) SNV Uncertain significance 914456 GRCh37: X:136649518-136649518
GRCh38: X:137567359-137567359
45 ZIC3 NM_003413.4(ZIC3):c.*26T>C SNV Uncertain significance 914457 GRCh37: X:136652255-136652255
GRCh38: X:137570096-137570096
46 ZIC3 NM_003413.4(ZIC3):c.*153A>G SNV Uncertain significance 914968 GRCh37: X:136652382-136652382
GRCh38: X:137570223-137570223
47 ZIC3 NM_003413.4(ZIC3):c.*260T>C SNV Uncertain significance 914969 GRCh37: X:136652489-136652489
GRCh38: X:137570330-137570330
48 ZIC3 NM_003413.4(ZIC3):c.-424C>A SNV Uncertain significance 912970 GRCh37: X:136648427-136648427
GRCh38: X:137566268-137566268
49 ZIC3 NM_003413.4(ZIC3):c.-335C>T SNV Uncertain significance 912971 GRCh37: X:136648516-136648516
GRCh38: X:137566357-137566357
50 ZIC3 NM_003413.4(ZIC3):c.-169A>C SNV Uncertain significance 912972 GRCh37: X:136648682-136648682
GRCh38: X:137566523-137566523

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

72
# 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

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

Sources for Heterotaxy, Visceral, 1, X-Linked

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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