HTX7
MCID: HTR018
MIFTS: 25

Heterotaxy, Visceral, 7, Autosomal (HTX7)

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

Aliases & Classifications for Heterotaxy, Visceral, 7, Autosomal

MalaCards integrated aliases for Heterotaxy, Visceral, 7, Autosomal:

Name: Heterotaxy, Visceral, 7, Autosomal 57 72 29 6
Htx7 57 72
Heterotaxy, Visceral, Autosomal, Type 7 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
some patients may be asymptomatic
spectrum of laterality defects


HPO:

31
heterotaxy, visceral, 7, autosomal:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heterotaxy, Visceral, 7, Autosomal

UniProtKB/Swiss-Prot : 72 Heterotaxy, visceral, 7, 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. HTX7 inheritance is autosomal recessive.

MalaCards based summary : Heterotaxy, Visceral, 7, Autosomal, is also known as htx7. An important gene associated with Heterotaxy, Visceral, 7, Autosomal is MMP21 (Matrix Metallopeptidase 21). Affiliated tissues include spleen, heart and liver, and related phenotypes are abnormal aortic valve morphology and abnormal tricuspid valve morphology

OMIM® : 57 Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). (616749) (Updated 05-Apr-2021)

Related Diseases for Heterotaxy, Visceral, 7, Autosomal

Symptoms & Phenotypes for Heterotaxy, Visceral, 7, Autosomal

Human phenotypes related to Heterotaxy, Visceral, 7, Autosomal:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 abnormal aortic valve morphology 31 very rare (1%) HP:0001646
2 abnormal tricuspid valve morphology 31 very rare (1%) HP:0001702
3 transposition of the great arteries 31 very rare (1%) HP:0001669
4 mitral atresia 31 very rare (1%) HP:0011560
5 pulmonary artery hypoplasia 31 very rare (1%) HP:0004971
6 right aortic arch 31 very rare (1%) HP:0012020
7 atrial septal defect 31 HP:0001631
8 interrupted aortic arch 31 HP:0011611
9 intestinal malrotation 31 HP:0002566
10 situs inversus totalis 31 HP:0001696
11 atrioventricular canal defect 31 HP:0006695
12 cyanosis 31 HP:0000961
13 polysplenia 31 HP:0001748
14 pulmonary artery atresia 31 HP:0004935
15 common atrium 31 HP:0011565
16 hypoplasia of right ventricle 31 HP:0004762
17 heterotaxy 31 HP:0030853
18 interrupted inferior vena cava with azygous continuation 31 HP:0011671
19 total anomalous pulmonary venous return 31 HP:0005160

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
intestinal malrotation

Abdomen Spleen:
polysplenia

Abdomen Liver:
midline liver

Respiratory Lung:
pulmonary isomerism

Cardiovascular Heart:
dextrocardia
atrioventricular canal defect
transposition of the great arteries
total anomalous pulmonary venous return
septal defects
more
Abdomen:
situs inversus
situs ambiguus

Cardiovascular Vascular:
interrupted vena cava drainage

Skin Nails Hair Skin:
cyanosis due to congenital heart defect

Clinical features from OMIM®:

616749 (Updated 05-Apr-2021)

Drugs & Therapeutics for Heterotaxy, Visceral, 7, Autosomal

Search Clinical Trials , NIH Clinical Center for Heterotaxy, Visceral, 7, Autosomal

Genetic Tests for Heterotaxy, Visceral, 7, Autosomal

Genetic tests related to Heterotaxy, Visceral, 7, Autosomal:

# Genetic test Affiliating Genes
1 Heterotaxy, Visceral, 7, Autosomal 29 MMP21

Anatomical Context for Heterotaxy, Visceral, 7, Autosomal

MalaCards organs/tissues related to Heterotaxy, Visceral, 7, Autosomal:

40
Spleen, Heart, Liver

Publications for Heterotaxy, Visceral, 7, Autosomal

Articles related to Heterotaxy, Visceral, 7, Autosomal:

# Title Authors PMID Year
1
A human laterality disorder caused by a homozygous deleterious mutation in MMP21. 57
26429889 2015
2
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 57
26437029 2015
3
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. 57
26437028 2015
4
Global genetic analysis in mice unveils central role for cilia in congenital heart disease. 57
25807483 2015

Variations for Heterotaxy, Visceral, 7, Autosomal

ClinVar genetic disease variations for Heterotaxy, Visceral, 7, Autosomal:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMP21 NM_147191.1(MMP21):c.643G>A (p.Glu215Lys) SNV Pathogenic 545547 rs145789868 GRCh37: 10:127462454-127462454
GRCh38: 10:125773885-125773885
2 MMP21 NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) SNV Pathogenic 265317 rs145119918 GRCh37: 10:127456139-127456139
GRCh38: 10:125767570-125767570
3 MMP21 NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) SNV Pathogenic 289001 rs137955225 GRCh37: 10:127458937-127458937
GRCh38: 10:125770368-125770368
4 MMP21 NM_147191.1(MMP21):c.557G>T (p.Ser186Ile) SNV Likely pathogenic 545548 rs1312300020 GRCh37: 10:127462540-127462540
GRCh38: 10:125773971-125773971
5 MMP21 NM_147191.1(MMP21):c.281G>C (p.Arg94Pro) SNV Likely pathogenic 976665 GRCh37: 10:127462816-127462816
GRCh38: 10:125774247-125774247
6 MMP21 NM_147191.1(MMP21):c.1123C>T (p.Arg375Cys) SNV Uncertain significance 1027776 GRCh37: 10:127459017-127459017
GRCh38: 10:125770448-125770448
7 MMP21 NM_147191.1(MMP21):c.890C>T (p.Thr297Met) SNV Uncertain significance 1027777 GRCh37: 10:127460876-127460876
GRCh38: 10:125772307-125772307

UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 7, Autosomal:

72
# Symbol AA change Variation ID SNP ID
1 MMP21 p.Arg31Trp VAR_076319 rs746379956
2 MMP21 p.Glu215Lys VAR_076320 rs145789868
3 MMP21 p.Ile226Thr VAR_076321 rs781127723
4 MMP21 p.His283Tyr VAR_076322 rs143482986
5 MMP21 p.Ile285Thr VAR_076323 rs747668147
6 MMP21 p.Ala321Pro VAR_076324 rs773125891
7 MMP21 p.Arg360Cys VAR_076325 rs946722250
8 MMP21 p.Arg375His VAR_076326

Expression for Heterotaxy, Visceral, 7, Autosomal

Search GEO for disease gene expression data for Heterotaxy, Visceral, 7, Autosomal.

Pathways for Heterotaxy, Visceral, 7, Autosomal

GO Terms for Heterotaxy, Visceral, 7, Autosomal

Sources for Heterotaxy, Visceral, 7, 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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