HTX4
MCID: HTR010
MIFTS: 30

Heterotaxy, Visceral, 4, Autosomal (HTX4)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Heterotaxy, Visceral, 4, Autosomal

MalaCards integrated aliases for Heterotaxy, Visceral, 4, Autosomal:

Name: Heterotaxy, Visceral, 4, Autosomal 57 72 29 13 6 70
Left-Right Axis Malformations 72 29 6 70
Htx4 57 72
Heterotaxy, Visceral, Autosomal, Type 4 39

Characteristics:

HPO:

31
heterotaxy, visceral, 4, autosomal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613751
OMIM Phenotypic Series 57 PS306955
MeSH 44 D059446
MedGen 41 C3151057
UMLS 70 C1866091 C3151057

Summaries for Heterotaxy, Visceral, 4, Autosomal

UniProtKB/Swiss-Prot : 72 Heterotaxy, visceral, 4, autosomal: 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. HTX4 clinical features include dextrocardia, right aortic arch and a right-sided spleen, anomalies of the inferior and the superior vena cava, atrial ventricular canal defect with dextro- transposed great arteries, pulmonary stenosis, polysplenia and midline liver.
Left-right axis malformations: The defect includes left pulmonary isomerism, with cardiac anomalies characterized by complete atrioventricular canal defect and hypoplastic left ventricle, and interrupted inferior vena cava.

MalaCards based summary : Heterotaxy, Visceral, 4, Autosomal, also known as left-right axis malformations, is related to visceral heterotaxy and ventricular septal defect. An important gene associated with Heterotaxy, Visceral, 4, Autosomal is ACVR2B (Activin A Receptor Type 2B). Affiliated tissues include spleen, and related phenotypes are ventricular septal defect and dextrocardia

OMIM® : 57 Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by 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 (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). (613751) (Updated 05-Apr-2021)

Related Diseases for Heterotaxy, Visceral, 4, Autosomal

Diseases in the Visceral Heterotaxy family:

Heterotaxy, Visceral, 5, Autosomal Heterotaxy, Visceral, 2, Autosomal
Heterotaxy, Visceral, 3, Autosomal Heterotaxy, Visceral, 4, Autosomal
Heterotaxy, Visceral, 6, Autosomal Heterotaxy, Visceral, 7, Autosomal
Heterotaxy, Visceral, 8, Autosomal

Diseases related to Heterotaxy, Visceral, 4, Autosomal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 visceral heterotaxy 10.0
2 ventricular septal defect 10.0
3 situs inversus 10.0
4 heterotaxy 10.0

Symptoms & Phenotypes for Heterotaxy, Visceral, 4, Autosomal

Human phenotypes related to Heterotaxy, Visceral, 4, Autosomal:

31
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 31 HP:0001629
2 dextrocardia 31 HP:0001651
3 atrioventricular canal defect 31 HP:0006695
4 right aortic arch 31 HP:0012020
5 ectopia of the spleen 31 HP:0010452

Clinical features from OMIM®:

613751 (Updated 05-Apr-2021)

Drugs & Therapeutics for Heterotaxy, Visceral, 4, Autosomal

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Left-Right Axis Malformations Completed NCT00341133

Search NIH Clinical Center for Heterotaxy, Visceral, 4, Autosomal

Genetic Tests for Heterotaxy, Visceral, 4, Autosomal

Genetic tests related to Heterotaxy, Visceral, 4, Autosomal:

# Genetic test Affiliating Genes
1 Heterotaxy, Visceral, 4, Autosomal 29 ACVR2B
2 Left-Right Axis Malformations 29

Anatomical Context for Heterotaxy, Visceral, 4, Autosomal

MalaCards organs/tissues related to Heterotaxy, Visceral, 4, Autosomal:

40
Spleen

Publications for Heterotaxy, Visceral, 4, Autosomal

Articles related to Heterotaxy, Visceral, 4, Autosomal:

# Title Authors PMID Year
1
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. 61 6 57
9916847 1999
2
Left, right ... which way to turn? 57
9354777 1997
3
The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse. 57
9242489 1997
4
[Contemporary opinions on pathogenesis, genetics and clinical picture of laterality disorders - left-right axis development defects]. 61
20081278 2009
5
Formation and malformation of the vertebrate left-right axis. 61
11898848 2002
6
Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes. 61
11283968 2001
7
The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus. 61
10942421 2000
8
Left-right axis malformations in man and mouse. 61
10826993 2000
9
Genetics of human left-right axis malformations. 61
9572118 1998

Variations for Heterotaxy, Visceral, 4, Autosomal

ClinVar genetic disease variations for Heterotaxy, Visceral, 4, Autosomal:

6 (show top 50) (show all 309)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACVR2B NM_001106.4(ACVR2B):c.1480G>A (p.Val494Ile) SNV Pathogenic 6859 rs121434438 GRCh37: 3:38524764-38524764
GRCh38: 3:38483273-38483273
2 LEFTY2 NM_003240.5(LEFTY2):c.371C>G (p.Pro124Arg) SNV Conflicting interpretations of pathogenicity 295973 rs777195213 GRCh37: 1:226127582-226127582
GRCh38: 1:225939882-225939882
3 ACVR2B NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=) SNV Conflicting interpretations of pathogenicity 414876 rs146067304 GRCh37: 3:38523976-38523976
GRCh38: 3:38482485-38482485
4 ACVR2B NM_001106.4(ACVR2B):c.1477C>T (p.Leu493Phe) SNV Conflicting interpretations of pathogenicity 344920 rs150752796 GRCh37: 3:38524761-38524761
GRCh38: 3:38483270-38483270
5 ACVR2B NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) SNV Uncertain significance 545541 rs1559655653 GRCh37: 3:38523761-38523761
GRCh38: 3:38482270-38482270
6 ACVR2B NM_001106.4(ACVR2B):c.481C>T (p.Arg161Trp) SNV Uncertain significance 640427 rs375094633 GRCh37: 3:38519742-38519742
GRCh38: 3:38478251-38478251
7 ACVR2B NM_001106.4(ACVR2B):c.143G>T (p.Arg48Leu) SNV Uncertain significance 646724 rs752059653 GRCh37: 3:38518868-38518868
GRCh38: 3:38477377-38477377
8 ACVR2B NM_001106.4(ACVR2B):c.1195C>G (p.Arg399Gly) SNV Uncertain significance 658791 rs1575589844 GRCh37: 3:38523809-38523809
GRCh38: 3:38482318-38482318
9 ACVR2B NM_001106.4(ACVR2B):c.1532G>A (p.Ser511Asn) SNV Uncertain significance 576208 rs1559656538 GRCh37: 3:38524816-38524816
GRCh38: 3:38483325-38483325
10 ACVR2B NM_001106.4(ACVR2B):c.926G>A (p.Arg309His) SNV Uncertain significance 579193 rs138692827 GRCh37: 3:38521284-38521284
GRCh38: 3:38479793-38479793
11 ACVR2B-AS1 , ACVR2B NM_001106.4(ACVR2B):c.1A>G (p.Met1Val) SNV Uncertain significance 579672 rs1559642966 GRCh37: 3:38495814-38495814
GRCh38: 3:38454323-38454323
12 ACVR2B NM_001106.4(ACVR2B):c.*2619C>T SNV Uncertain significance 344969 rs886058401 GRCh37: 3:38527442-38527442
GRCh38: 3:38485951-38485951
13 ACVR2B NM_001106.4(ACVR2B):c.*7620G>A SNV Uncertain significance 345023 rs886058422 GRCh37: 3:38532443-38532443
GRCh38: 3:38490952-38490952
14 ACVR2B NM_001106.4(ACVR2B):c.*665G>A SNV Uncertain significance 344935 rs886058390 GRCh37: 3:38525488-38525488
GRCh38: 3:38483997-38483997
15 ACVR2B NM_001106.4(ACVR2B):c.*5086C>G SNV Uncertain significance 344997 rs544426895 GRCh37: 3:38529909-38529909
GRCh38: 3:38488418-38488418
16 ACVR2B NM_001106.4(ACVR2B):c.*3895T>G SNV Uncertain significance 344983 rs886058406 GRCh37: 3:38528718-38528718
GRCh38: 3:38487227-38487227
17 ACVR2B NM_001106.4(ACVR2B):c.*1544C>T SNV Uncertain significance 344947 rs886058393 GRCh37: 3:38526367-38526367
GRCh38: 3:38484876-38484876
18 ACVR2B NM_001106.4(ACVR2B):c.*6534C>G SNV Uncertain significance 345012 rs886058418 GRCh37: 3:38531357-38531357
GRCh38: 3:38489866-38489866
19 ACVR2B NM_001106.4(ACVR2B):c.*4486C>G SNV Uncertain significance 344989 rs886058409 GRCh37: 3:38529309-38529309
GRCh38: 3:38487818-38487818
20 ACVR2B NM_001106.4(ACVR2B):c.*788G>A SNV Uncertain significance 900283 GRCh37: 3:38525611-38525611
GRCh38: 3:38484120-38484120
21 ACVR2B NM_001106.4(ACVR2B):c.*4333T>G SNV Uncertain significance 900466 GRCh37: 3:38529156-38529156
GRCh38: 3:38487665-38487665
22 ACVR2B NM_001106.4(ACVR2B):c.*4418A>G SNV Uncertain significance 900467 GRCh37: 3:38529241-38529241
GRCh38: 3:38487750-38487750
23 ACVR2B NM_001106.4(ACVR2B):c.*4565A>G SNV Uncertain significance 900468 GRCh37: 3:38529388-38529388
GRCh38: 3:38487897-38487897
24 ACVR2B NM_001106.4(ACVR2B):c.*4608A>C SNV Uncertain significance 900469 GRCh37: 3:38529431-38529431
GRCh38: 3:38487940-38487940
25 ACVR2B NM_001106.4(ACVR2B):c.*9484T>G SNV Uncertain significance 900635 GRCh37: 3:38534307-38534307
GRCh38: 3:38492816-38492816
26 ACVR2B NM_001106.4(ACVR2B):c.*9711T>C SNV Uncertain significance 900636 GRCh37: 3:38534534-38534534
GRCh38: 3:38493043-38493043
27 ACVR2B NM_001106.4(ACVR2B):c.*9763T>G SNV Uncertain significance 900637 GRCh37: 3:38534586-38534586
GRCh38: 3:38493095-38493095
28 ACVR2B NM_001106.4(ACVR2B):c.*9783A>T SNV Uncertain significance 900638 GRCh37: 3:38534606-38534606
GRCh38: 3:38493115-38493115
29 ACVR2B NM_001106.4(ACVR2B):c.*1020G>C SNV Uncertain significance 901442 GRCh37: 3:38525843-38525843
GRCh38: 3:38484352-38484352
30 ACVR2B NM_001106.4(ACVR2B):c.*1210T>C SNV Uncertain significance 901443 GRCh37: 3:38526033-38526033
GRCh38: 3:38484542-38484542
31 ACVR2B-AS1 , ACVR2B NM_001106.4(ACVR2B):c.-21C>T SNV Uncertain significance 901876 GRCh37: 3:38495793-38495793
GRCh38: 3:38454302-38454302
32 ACVR2B-AS1 , ACVR2B NM_001106.4(ACVR2B):c.24C>A (p.Leu8=) SNV Uncertain significance 901877 GRCh37: 3:38495837-38495837
GRCh38: 3:38454346-38454346
33 ACVR2B-AS1 , ACVR2B NM_001106.4(ACVR2B):c.45G>A (p.Leu15=) SNV Uncertain significance 901878 GRCh37: 3:38495858-38495858
GRCh38: 3:38454367-38454367
34 ACVR2B NM_001106.4(ACVR2B):c.*3140C>T SNV Uncertain significance 902070 GRCh37: 3:38527963-38527963
GRCh38: 3:38486472-38486472
35 ACVR2B NM_001106.4(ACVR2B):c.*5161A>G SNV Uncertain significance 899400 GRCh37: 3:38529984-38529984
GRCh38: 3:38488493-38488493
36 ACVR2B NM_001106.4(ACVR2B):c.*5264C>G SNV Uncertain significance 899401 GRCh37: 3:38530087-38530087
GRCh38: 3:38488596-38488596
37 ACVR2B NM_001106.4(ACVR2B):c.*5285A>G SNV Uncertain significance 899402 GRCh37: 3:38530108-38530108
GRCh38: 3:38488617-38488617
38 ACVR2B NM_001106.4(ACVR2B):c.*9286A>G SNV Uncertain significance 899506 GRCh37: 3:38534109-38534109
GRCh38: 3:38492618-38492618
39 ACVR2B NM_001106.4(ACVR2B):c.*9473T>C SNV Uncertain significance 899507 GRCh37: 3:38534296-38534296
GRCh38: 3:38492805-38492805
40 ACVR2B NM_001106.4(ACVR2B):c.*9476A>C SNV Uncertain significance 899508 GRCh37: 3:38534299-38534299
GRCh38: 3:38492808-38492808
41 ACVR2B NM_001106.4(ACVR2B):c.849A>G (p.Thr283=) SNV Uncertain significance 900229 GRCh37: 3:38521207-38521207
GRCh38: 3:38479716-38479716
42 ACVR2B NM_001106.4(ACVR2B):c.1213+14C>T SNV Uncertain significance 900230 GRCh37: 3:38523841-38523841
GRCh38: 3:38482350-38482350
43 ACVR2B NM_001106.4(ACVR2B):c.*3180T>C SNV Uncertain significance 902072 GRCh37: 3:38528003-38528003
GRCh38: 3:38486512-38486512
44 ACVR2B NM_001106.4(ACVR2B):c.*6206T>C SNV Uncertain significance 902182 GRCh37: 3:38531029-38531029
GRCh38: 3:38489538-38489538
45 ACVR2B NM_001106.4(ACVR2B):c.*6372A>G SNV Uncertain significance 902183 GRCh37: 3:38531195-38531195
GRCh38: 3:38489704-38489704
46 ACVR2B NM_001106.4(ACVR2B):c.*6389A>G SNV Uncertain significance 902184 GRCh37: 3:38531212-38531212
GRCh38: 3:38489721-38489721
47 ACVR2B NM_001106.4(ACVR2B):c.*6522T>G SNV Uncertain significance 902185 GRCh37: 3:38531345-38531345
GRCh38: 3:38489854-38489854
48 ACVR2B NM_001106.4(ACVR2B):c.*8427T>G SNV Uncertain significance 902252 GRCh37: 3:38533250-38533250
GRCh38: 3:38491759-38491759
49 ACVR2B NM_001106.4(ACVR2B):c.*8492G>C SNV Uncertain significance 902253 GRCh37: 3:38533315-38533315
GRCh38: 3:38491824-38491824
50 ACVR2B NM_001106.4(ACVR2B):c.*8714G>A SNV Uncertain significance 902254 GRCh37: 3:38533537-38533537
GRCh38: 3:38492046-38492046

UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 4, Autosomal:

72
# Symbol AA change Variation ID SNP ID
1 ACVR2B p.Arg40His VAR_013281 rs121434437
2 ACVR2B p.Val494Ile VAR_013282 rs121434438

Expression for Heterotaxy, Visceral, 4, Autosomal

Search GEO for disease gene expression data for Heterotaxy, Visceral, 4, Autosomal.

Pathways for Heterotaxy, Visceral, 4, Autosomal

GO Terms for Heterotaxy, Visceral, 4, Autosomal

Sources for Heterotaxy, Visceral, 4, Autosomal

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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