MCID: HTR010
MIFTS: 22

Heterotaxy, Visceral, 4, Autosomal

Categories: Genetic diseases, Cardiovascular diseases, Fetal 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 heart, 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 ectopia of the spleen 32 HP:0010452
5 right aortic arch 32 HP:0012020

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, Heart, Liver

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
Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation. ( 10798355 )
2000
3
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. ( 9916847 )
1999
4
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 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACVR2B NM_001106.3(ACVR2B): c.1480G> A (p.Val494Ile) single nucleotide variant Pathogenic rs121434438 GRCh37 Chromosome 3, 38524764: 38524764
2 ACVR2B NM_001106.3(ACVR2B): c.1480G> A (p.Val494Ile) single nucleotide variant Pathogenic rs121434438 GRCh38 Chromosome 3, 38483273: 38483273
3 LEFTY2 NM_003240.4(LEFTY2): c.330C> T (p.Asn110=) single nucleotide variant Benign/Likely benign rs181651384 GRCh37 Chromosome 1, 226127623: 226127623
4 LEFTY2 NM_003240.4(LEFTY2): c.330C> T (p.Asn110=) single nucleotide variant Benign/Likely benign rs181651384 GRCh38 Chromosome 1, 225939923: 225939923
5 ACVR2B NM_001106.3(ACVR2B): c.666+5G> A single nucleotide variant Benign rs187763364 GRCh37 Chromosome 3, 38520014: 38520014
6 ACVR2B NM_001106.3(ACVR2B): c.666+5G> A single nucleotide variant Benign rs187763364 GRCh38 Chromosome 3, 38478523: 38478523
7 ACVR2B NM_001106.3(ACVR2B): c.993C> T (p.Ser331=) single nucleotide variant Benign rs2228012 GRCh38 Chromosome 3, 38481384: 38481384
8 ACVR2B NM_001106.3(ACVR2B): c.993C> T (p.Ser331=) single nucleotide variant Benign rs2228012 GRCh37 Chromosome 3, 38522875: 38522875
9 LEFTY2 NM_003240.4(LEFTY2): c.474C> T (p.Asn158=) single nucleotide variant Benign/Likely benign rs188858500 GRCh38 Chromosome 1, 225939779: 225939779
10 LEFTY2 NM_003240.4(LEFTY2): c.474C> T (p.Asn158=) single nucleotide variant Benign/Likely benign rs188858500 GRCh37 Chromosome 1, 226127479: 226127479
11 LEFTY2 NM_003240.4(LEFTY2): c.375C> T (p.Val125=) single nucleotide variant Likely benign rs757892012 GRCh37 Chromosome 1, 226127578: 226127578
12 LEFTY2 NM_003240.4(LEFTY2): c.375C> T (p.Val125=) single nucleotide variant Likely benign rs757892012 GRCh38 Chromosome 1, 225939878: 225939878
13 LEFTY2 NM_003240.4(LEFTY2): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs115510690 GRCh38 Chromosome 1, 225940972: 225940972
14 LEFTY2 NM_003240.4(LEFTY2): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs115510690 GRCh37 Chromosome 1, 226128672: 226128672
15 ACVR2B NM_001106.3(ACVR2B): c.333A> G (p.Glu111=) single nucleotide variant Benign rs2070489 GRCh37 Chromosome 3, 38519424: 38519424
16 ACVR2B NM_001106.3(ACVR2B): c.333A> G (p.Glu111=) single nucleotide variant Benign rs2070489 GRCh38 Chromosome 3, 38477933: 38477933
17 ACVR2B NM_001106.3(ACVR2B): c.811-13T> C single nucleotide variant Benign rs13097628 GRCh37 Chromosome 3, 38521156: 38521156
18 ACVR2B NM_001106.3(ACVR2B): c.811-13T> C single nucleotide variant Benign rs13097628 GRCh38 Chromosome 3, 38479665: 38479665
19 ACVR2B NM_001106.3(ACVR2B): c.811-12G> A single nucleotide variant Benign/Likely benign rs144849143 GRCh38 Chromosome 3, 38479666: 38479666
20 ACVR2B NM_001106.3(ACVR2B): c.811-12G> A single nucleotide variant Benign/Likely benign rs144849143 GRCh37 Chromosome 3, 38521157: 38521157
21 ACVR2B NM_001106.3(ACVR2B): c.1458C> T (p.Asn486=) single nucleotide variant Benign rs1046048 GRCh37 Chromosome 3, 38524742: 38524742
22 ACVR2B NM_001106.3(ACVR2B): c.1458C> T (p.Asn486=) single nucleotide variant Benign rs1046048 GRCh38 Chromosome 3, 38483251: 38483251
23 LEFTY2 NM_003240.4(LEFTY2): c.1035C> T (p.Asn345=) single nucleotide variant Benign/Likely benign rs112610798 GRCh38 Chromosome 1, 225937507: 225937507
24 LEFTY2 NM_003240.4(LEFTY2): c.1035C> T (p.Asn345=) single nucleotide variant Benign/Likely benign rs112610798 GRCh37 Chromosome 1, 226125207: 226125207
25 LEFTY2 NM_003240.4(LEFTY2): c.425A> G (p.Gln142Arg) single nucleotide variant Benign/Likely benign rs429477 GRCh37 Chromosome 1, 226127528: 226127528
26 LEFTY2 NM_003240.4(LEFTY2): c.425A> G (p.Gln142Arg) single nucleotide variant Benign/Likely benign rs429477 GRCh38 Chromosome 1, 225939828: 225939828
27 ACVR2B NM_001106.3(ACVR2B): c.1452G> A (p.Ser484=) single nucleotide variant Conflicting interpretations of pathogenicity rs56280856 GRCh37 Chromosome 3, 38524736: 38524736
28 ACVR2B NM_001106.3(ACVR2B): c.1452G> A (p.Ser484=) single nucleotide variant Conflicting interpretations of pathogenicity rs56280856 GRCh38 Chromosome 3, 38483245: 38483245
29 LEFTY2 NM_003240.4(LEFTY2): c.1036A> C (p.Met346Leu) single nucleotide variant Uncertain significance rs747778361 GRCh37 Chromosome 1, 226125206: 226125206
30 LEFTY2 NM_003240.4(LEFTY2): c.1036A> C (p.Met346Leu) single nucleotide variant Uncertain significance rs747778361 GRCh38 Chromosome 1, 225937506: 225937506
31 LEFTY2 NM_003240.4(LEFTY2): c.1007C> G (p.Thr336Ser) single nucleotide variant Uncertain significance rs749823804 GRCh37 Chromosome 1, 226125235: 226125235
32 LEFTY2 NM_003240.4(LEFTY2): c.1007C> G (p.Thr336Ser) single nucleotide variant Uncertain significance rs749823804 GRCh38 Chromosome 1, 225937535: 225937535
33 LEFTY2 NM_003240.4(LEFTY2): c.114C> T (p.Ser38=) single nucleotide variant Likely benign rs375073116 GRCh37 Chromosome 1, 226128727: 226128727
34 LEFTY2 NM_003240.4(LEFTY2): c.114C> T (p.Ser38=) single nucleotide variant Likely benign rs375073116 GRCh38 Chromosome 1, 225941027: 225941027
35 LEFTY2 NM_003240.4(LEFTY2): c.903G> A (p.Pro301=) single nucleotide variant Benign rs61731739 GRCh37 Chromosome 1, 226125339: 226125339
36 LEFTY2 NM_003240.4(LEFTY2): c.903G> A (p.Pro301=) single nucleotide variant Benign rs61731739 GRCh38 Chromosome 1, 225937639: 225937639
37 ACVR2B NM_001106.3(ACVR2B): c.371-9G> C single nucleotide variant Likely benign rs374269276 GRCh38 Chromosome 3, 38478132: 38478132
38 ACVR2B NM_001106.3(ACVR2B): c.371-9G> C single nucleotide variant Likely benign rs374269276 GRCh37 Chromosome 3, 38519623: 38519623
39 ACVR2B NM_001106.3(ACVR2B): c.1269G> A (p.Ser423=) single nucleotide variant Likely benign rs146067304 GRCh37 Chromosome 3, 38523976: 38523976
40 ACVR2B NM_001106.3(ACVR2B): c.1269G> A (p.Ser423=) single nucleotide variant Likely benign rs146067304 GRCh38 Chromosome 3, 38482485: 38482485
41 LEFTY2 NM_003240.4(LEFTY2): c.304G> C (p.Gly102Arg) single nucleotide variant Uncertain significance rs573132257 GRCh38 Chromosome 1, 225939949: 225939949
42 LEFTY2 NM_003240.4(LEFTY2): c.304G> C (p.Gly102Arg) single nucleotide variant Uncertain significance rs573132257 GRCh37 Chromosome 1, 226127649: 226127649
43 LEFTY2 NM_003240.4(LEFTY2): c.1074G> T (p.Ala358=) single nucleotide variant Likely benign rs561486852 GRCh37 Chromosome 1, 226125168: 226125168
44 LEFTY2 NM_003240.4(LEFTY2): c.1074G> T (p.Ala358=) single nucleotide variant Likely benign rs561486852 GRCh38 Chromosome 1, 225937468: 225937468
45 LEFTY2 NM_003240.4(LEFTY2): c.69C> T (p.Thr23=) single nucleotide variant Likely benign rs750632817 GRCh38 Chromosome 1, 225941072: 225941072
46 LEFTY2 NM_003240.4(LEFTY2): c.69C> T (p.Thr23=) single nucleotide variant Likely benign rs750632817 GRCh37 Chromosome 1, 226128772: 226128772
47 ACVR2B NM_001106.3(ACVR2B): c.99C> T (p.Asn33=) single nucleotide variant Likely benign rs759328980 GRCh37 Chromosome 3, 38518824: 38518824
48 ACVR2B NM_001106.3(ACVR2B): c.99C> T (p.Asn33=) single nucleotide variant Likely benign rs759328980 GRCh38 Chromosome 3, 38477333: 38477333
49 LEFTY2 NM_003240.4(LEFTY2): c.793C> T (p.Arg265Cys) single nucleotide variant Uncertain significance rs755576793 GRCh37 Chromosome 1, 226125449: 226125449
50 LEFTY2 NM_003240.4(LEFTY2): c.793C> T (p.Arg265Cys) single nucleotide variant Uncertain significance rs755576793 GRCh38 Chromosome 1, 225937749: 225937749

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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