HTX4
MCID: HTR010
MIFTS: 23

Heterotaxy, Visceral, 4, Autosomal (HTX4)

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

Aliases & Classifications for Heterotaxy, Visceral, 4, Autosomal

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

Name: Heterotaxy, Visceral, 4, Autosomal 57 75 29 13 6 73
Left-Right Axis Malformations 75 29 13 6 73
Htx4 57 75
Heterotaxy, Visceral, Autosomal, Type 4 40

Characteristics:

HPO:

32
heterotaxy, visceral, 4, autosomal:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Heterotaxy, Visceral, 4, Autosomal

UniProtKB/Swiss-Prot : 75 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 been associated with 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.

MalaCards based summary : Heterotaxy, Visceral, 4, Autosomal, is also known as left-right axis malformations. An important gene associated with Heterotaxy, Visceral, 4, Autosomal is ACVR2B (Activin A Receptor Type 2B). Affiliated tissues include spleen, lung and liver, 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)

Related Diseases for Heterotaxy, Visceral, 4, Autosomal

Symptoms & Phenotypes for Heterotaxy, Visceral, 4, Autosomal

Clinical features from OMIM:

613751

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

32
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 32 HP:0001629
2 dextrocardia 32 HP:0001651
3 atrioventricular canal defect 32 HP:0006695
4 right aortic arch 32 HP:0012020
5 ectopia of the spleen 32 HP:0010452

Drugs & Therapeutics for Heterotaxy, Visceral, 4, Autosomal

Search Clinical Trials , 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:

41
Spleen, Lung, Liver, Heart

Publications for Heterotaxy, Visceral, 4, Autosomal

Articles related to Heterotaxy, Visceral, 4, Autosomal:

# Title Authors Year
1
Left-right axis malformations in man and mouse. ( 10826993 )
2000
2
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. ( 9916847 )
1999
3
Genetics of human left-right axis malformations. ( 9572118 )
1998

Variations for Heterotaxy, Visceral, 4, Autosomal

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

75
# Symbol AA change Variation ID SNP ID
1 ACVR2B p.Arg40His VAR_013281 rs121434437
2 ACVR2B p.Val494Ile VAR_013282 rs121434438

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

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACVR2B NM_001106.3(ACVR2B): c.119G> A (p.Arg40His) single nucleotide variant Conflicting interpretations of pathogenicity rs121434437 GRCh37 Chromosome 3, 38518844: 38518844
2 ACVR2B NM_001106.3(ACVR2B): c.119G> A (p.Arg40His) single nucleotide variant Conflicting interpretations of pathogenicity rs121434437 GRCh38 Chromosome 3, 38477353: 38477353
3 ACVR2B NM_001106.3(ACVR2B): c.1480G> A (p.Val494Ile) single nucleotide variant Pathogenic rs121434438 GRCh37 Chromosome 3, 38524764: 38524764
4 ACVR2B NM_001106.3(ACVR2B): c.1480G> A (p.Val494Ile) single nucleotide variant Pathogenic rs121434438 GRCh38 Chromosome 3, 38483273: 38483273
5 LEFTY2 NM_003240.4(LEFTY2): c.940C> T (p.Arg314Ter) single nucleotide variant Uncertain significance rs121909125 GRCh37 Chromosome 1, 226125302: 226125302
6 LEFTY2 NM_003240.4(LEFTY2): c.940C> T (p.Arg314Ter) single nucleotide variant Uncertain significance rs121909125 GRCh38 Chromosome 1, 225937602: 225937602
7 LEFTY2 NM_003240.4(LEFTY2): c.1025G> A (p.Ser342Asn) single nucleotide variant Uncertain significance rs121909126 GRCh37 Chromosome 1, 226125217: 226125217
8 LEFTY2 NM_003240.4(LEFTY2): c.1025G> A (p.Ser342Asn) single nucleotide variant Uncertain significance rs121909126 GRCh38 Chromosome 1, 225937517: 225937517
9 ACVR2B NM_001106.3(ACVR2B): c.1075-5C> T single nucleotide variant Benign/Likely benign rs115155428 GRCh37 Chromosome 3, 38523684: 38523684
10 ACVR2B NM_001106.3(ACVR2B): c.1075-5C> T single nucleotide variant Benign/Likely benign rs115155428 GRCh38 Chromosome 3, 38482193: 38482193
11 ACVR2B NM_001106.3(ACVR2B): c.1344+7G> T single nucleotide variant Benign/Likely benign rs9876823 GRCh37 Chromosome 3, 38524058: 38524058
12 ACVR2B NM_001106.3(ACVR2B): c.1344+7G> T single nucleotide variant Benign/Likely benign rs9876823 GRCh38 Chromosome 3, 38482567: 38482567
13 LEFTY2 NM_003240.4(LEFTY2): c.324G> A (p.Pro108=) single nucleotide variant Benign/Likely benign rs199979438 GRCh37 Chromosome 1, 226127629: 226127629
14 LEFTY2 NM_003240.4(LEFTY2): c.324G> A (p.Pro108=) single nucleotide variant Benign/Likely benign rs199979438 GRCh38 Chromosome 1, 225939929: 225939929
15 LEFTY2 NM_003240.4(LEFTY2): c.774C> T (p.Thr258=) single nucleotide variant Benign/Likely benign rs149969900 GRCh37 Chromosome 1, 226125468: 226125468
16 LEFTY2 NM_003240.4(LEFTY2): c.774C> T (p.Thr258=) single nucleotide variant Benign/Likely benign rs149969900 GRCh38 Chromosome 1, 225937768: 225937768
17 LEFTY2 NM_003240.4(LEFTY2): c.857C> T (p.Pro286Leu) single nucleotide variant Benign/Likely benign rs2295418 GRCh37 Chromosome 1, 226125385: 226125385
18 LEFTY2 NM_003240.4(LEFTY2): c.857C> T (p.Pro286Leu) single nucleotide variant Benign/Likely benign rs2295418 GRCh38 Chromosome 1, 225937685: 225937685
19 LEFTY2 NM_003240.4(LEFTY2): c.982G> A (p.Val328Ile) single nucleotide variant Benign/Likely benign rs61731738 GRCh37 Chromosome 1, 226125260: 226125260
20 LEFTY2 NM_003240.4(LEFTY2): c.982G> A (p.Val328Ile) single nucleotide variant Benign/Likely benign rs61731738 GRCh38 Chromosome 1, 225937560: 225937560
21 LEFTY2 NM_003240.4(LEFTY2): c.330C> T (p.Asn110=) single nucleotide variant Benign/Likely benign rs181651384 GRCh37 Chromosome 1, 226127623: 226127623
22 LEFTY2 NM_003240.4(LEFTY2): c.330C> T (p.Asn110=) single nucleotide variant Benign/Likely benign rs181651384 GRCh38 Chromosome 1, 225939923: 225939923
23 ACVR2B NM_001106.3(ACVR2B): c.666+5G> A single nucleotide variant Benign rs187763364 GRCh37 Chromosome 3, 38520014: 38520014
24 ACVR2B NM_001106.3(ACVR2B): c.666+5G> A single nucleotide variant Benign rs187763364 GRCh38 Chromosome 3, 38478523: 38478523
25 ACVR2B NM_001106.3(ACVR2B): c.993C> T (p.Ser331=) single nucleotide variant Benign rs2228012 GRCh38 Chromosome 3, 38481384: 38481384
26 ACVR2B NM_001106.3(ACVR2B): c.993C> T (p.Ser331=) single nucleotide variant Benign rs2228012 GRCh37 Chromosome 3, 38522875: 38522875
27 LEFTY2 NM_003240.4(LEFTY2): c.474C> T (p.Asn158=) single nucleotide variant Benign/Likely benign rs188858500 GRCh38 Chromosome 1, 225939779: 225939779
28 LEFTY2 NM_003240.4(LEFTY2): c.474C> T (p.Asn158=) single nucleotide variant Benign/Likely benign rs188858500 GRCh37 Chromosome 1, 226127479: 226127479
29 LEFTY2 NM_003240.4(LEFTY2): c.375C> T (p.Val125=) single nucleotide variant Likely benign rs757892012 GRCh37 Chromosome 1, 226127578: 226127578
30 LEFTY2 NM_003240.4(LEFTY2): c.375C> T (p.Val125=) single nucleotide variant Likely benign rs757892012 GRCh38 Chromosome 1, 225939878: 225939878
31 LEFTY2 NM_003240.4(LEFTY2): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs115510690 GRCh38 Chromosome 1, 225940972: 225940972
32 LEFTY2 NM_003240.4(LEFTY2): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs115510690 GRCh37 Chromosome 1, 226128672: 226128672
33 ACVR2B NM_001106.3(ACVR2B): c.333A> G (p.Glu111=) single nucleotide variant Benign rs2070489 GRCh37 Chromosome 3, 38519424: 38519424
34 ACVR2B NM_001106.3(ACVR2B): c.333A> G (p.Glu111=) single nucleotide variant Benign rs2070489 GRCh38 Chromosome 3, 38477933: 38477933
35 ACVR2B NM_001106.3(ACVR2B): c.811-13T> C single nucleotide variant Benign rs13097628 GRCh37 Chromosome 3, 38521156: 38521156
36 ACVR2B NM_001106.3(ACVR2B): c.811-13T> C single nucleotide variant Benign rs13097628 GRCh38 Chromosome 3, 38479665: 38479665
37 ACVR2B NM_001106.3(ACVR2B): c.811-12G> A single nucleotide variant Benign/Likely benign rs144849143 GRCh38 Chromosome 3, 38479666: 38479666
38 ACVR2B NM_001106.3(ACVR2B): c.811-12G> A single nucleotide variant Benign/Likely benign rs144849143 GRCh37 Chromosome 3, 38521157: 38521157
39 ACVR2B NM_001106.3(ACVR2B): c.1458C> T (p.Asn486=) single nucleotide variant Benign rs1046048 GRCh37 Chromosome 3, 38524742: 38524742
40 ACVR2B NM_001106.3(ACVR2B): c.1458C> T (p.Asn486=) single nucleotide variant Benign rs1046048 GRCh38 Chromosome 3, 38483251: 38483251
41 LEFTY2 NM_003240.4(LEFTY2): c.1035C> T (p.Asn345=) single nucleotide variant Benign/Likely benign rs112610798 GRCh38 Chromosome 1, 225937507: 225937507
42 LEFTY2 NM_003240.4(LEFTY2): c.1035C> T (p.Asn345=) single nucleotide variant Benign/Likely benign rs112610798 GRCh37 Chromosome 1, 226125207: 226125207
43 LEFTY2 NM_003240.4(LEFTY2): c.425A> G (p.Gln142Arg) single nucleotide variant Benign/Likely benign rs429477 GRCh38 Chromosome 1, 225939828: 225939828
44 LEFTY2 NM_003240.4(LEFTY2): c.425A> G (p.Gln142Arg) single nucleotide variant Benign/Likely benign rs429477 GRCh37 Chromosome 1, 226127528: 226127528
45 ACVR2B NM_001106.3(ACVR2B): c.1452G> A (p.Ser484=) single nucleotide variant Conflicting interpretations of pathogenicity rs56280856 GRCh37 Chromosome 3, 38524736: 38524736
46 ACVR2B NM_001106.3(ACVR2B): c.1452G> A (p.Ser484=) single nucleotide variant Conflicting interpretations of pathogenicity rs56280856 GRCh38 Chromosome 3, 38483245: 38483245
47 ACVR2B NM_001106.3(ACVR2B): c.1477C> T (p.Leu493Phe) single nucleotide variant Uncertain significance rs150752796 GRCh37 Chromosome 3, 38524761: 38524761
48 ACVR2B NM_001106.3(ACVR2B): c.1477C> T (p.Leu493Phe) single nucleotide variant Uncertain significance rs150752796 GRCh38 Chromosome 3, 38483270: 38483270
49 LEFTY2 NM_003240.4(LEFTY2): c.1007C> G (p.Thr336Ser) single nucleotide variant Uncertain significance rs749823804 GRCh37 Chromosome 1, 226125235: 226125235
50 LEFTY2 NM_003240.4(LEFTY2): c.1007C> G (p.Thr336Ser) single nucleotide variant Uncertain significance rs749823804 GRCh38 Chromosome 1, 225937535: 225937535

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

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