MCID: HTR018
MIFTS: 21

Heterotaxy, Visceral, 7, Autosomal

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

Aliases & Classifications for Heterotaxy, Visceral, 7, Autosomal

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

Name: Heterotaxy, Visceral, 7, Autosomal 57 75 29
Htx7 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
some patients may be asymptomatic
spectrum of laterality defects


HPO:

32
heterotaxy, visceral, 7, autosomal:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heterotaxy, Visceral, 7, Autosomal

UniProtKB/Swiss-Prot : 75 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 been 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 heart, liver and lung, and related phenotypes are atrial septal defect and intestinal malrotation

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)

Related Diseases for Heterotaxy, Visceral, 7, Autosomal

Symptoms & Phenotypes for Heterotaxy, Visceral, 7, Autosomal

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
intestinal malrotation

AbdomenSpleen:
polysplenia

Abdomen Liver:
midline liver

Respiratory Lung:
pulmonary isomerism

Cardiovascular Heart:
dextrocardia
atrioventricular canal defect
transposition of the great arteries
septal defects
total anomalous pulmonary venous return
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

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 HP:0001631
2 intestinal malrotation 32 HP:0002566
3 situs inversus totalis 32 HP:0001696
4 atrioventricular canal defect 32 HP:0006695
5 transposition of the great arteries 32 very rare (1%) HP:0001669
6 interrupted aortic arch 32 HP:0011611
7 mitral atresia 32 very rare (1%) HP:0011560
8 polysplenia 32 HP:0001748
9 pulmonary artery hypoplasia 32 very rare (1%) HP:0004971
10 pulmonary artery atresia 32 HP:0004935
11 hypoplasia of right ventricle 32 HP:0004762
12 heterotaxy 32 HP:0030853
13 right aortic arch 32 very rare (1%) HP:0012020
14 common atrium 32 HP:0011565
15 total anomalous pulmonary venous return 32 HP:0005160
16 abnormal aortic valve morphology 32 very rare (1%) HP:0001646
17 abnormal tricuspid valve morphology 32 very rare (1%) HP:0001702
18 interrupted inferior vena cava with azygous continuation 32 HP:0011671

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:

41
Heart, Liver, Lung, Spleen

Publications for Heterotaxy, Visceral, 7, Autosomal

Variations for Heterotaxy, Visceral, 7, Autosomal

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

75
# 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
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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