HTX2
MCID: HTR009
MIFTS: 27

Heterotaxy, Visceral, 2, Autosomal (HTX2)

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

Aliases & Classifications for Heterotaxy, Visceral, 2, Autosomal

MalaCards integrated aliases for Heterotaxy, Visceral, 2, Autosomal:

Name: Heterotaxy, Visceral, 2, Autosomal 57 72 29 13 6 70
Htx2 57 72
Heterotaxy, Visceral, Autosomal, Type 2 39
Htx 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
highly variable phenotype

Inheritance:
autosomal dominant


HPO:

31
heterotaxy, visceral, 2, autosomal:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 605376
OMIM Phenotypic Series 57 PS306955
MeSH 44 D059446
UMLS 70 C1415817

Summaries for Heterotaxy, Visceral, 2, Autosomal

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). (605376) (Updated 20-May-2021)

MalaCards based summary : Heterotaxy, Visceral, 2, Autosomal, also known as htx2, is related to heterotaxy and hydrocephalus. An important gene associated with Heterotaxy, Visceral, 2, Autosomal is CFC1 (Cripto, FRL-1, Cryptic Family 1). Affiliated tissues include spleen, brain and liver, and related phenotypes are intestinal malrotation and abdominal situs inversus

UniProtKB/Swiss-Prot : 72 Heterotaxy, visceral, 2, 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.

Related Diseases for Heterotaxy, Visceral, 2, Autosomal

Graphical network of the top 20 diseases related to Heterotaxy, Visceral, 2, Autosomal:



Diseases related to Heterotaxy, Visceral, 2, Autosomal

Symptoms & Phenotypes for Heterotaxy, Visceral, 2, Autosomal

Human phenotypes related to Heterotaxy, Visceral, 2, Autosomal:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intestinal malrotation 31 HP:0002566
2 abdominal situs inversus 31 HP:0003363
3 situs inversus totalis 31 HP:0001696
4 atrioventricular canal defect 31 HP:0006695
5 transposition of the great arteries 31 HP:0001669
6 polysplenia 31 HP:0001748
7 double outlet right ventricle 31 HP:0001719
8 mesocardia 31 HP:0011599
9 left atrial isomerism 31 HP:0011537

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
intestinal malrotation

Abdomen Spleen:
polysplenia

Respiratory Lung:
lung isomerism

Cardiovascular Heart:
dextrocardia
double-outlet right ventricle
complex cardiac anomalies
transposition of the great arteries (tga)
dextro-looped tga
more
Abdomen:
situs inversus

Abdomen Liver:
transverse liver

Clinical features from OMIM®:

605376 (Updated 20-May-2021)

Drugs & Therapeutics for Heterotaxy, Visceral, 2, Autosomal

Search Clinical Trials , NIH Clinical Center for Heterotaxy, Visceral, 2, Autosomal

Genetic Tests for Heterotaxy, Visceral, 2, Autosomal

Genetic tests related to Heterotaxy, Visceral, 2, Autosomal:

# Genetic test Affiliating Genes
1 Heterotaxy, Visceral, 2, Autosomal 29 CFC1

Anatomical Context for Heterotaxy, Visceral, 2, Autosomal

MalaCards organs/tissues related to Heterotaxy, Visceral, 2, Autosomal:

40
Spleen, Brain, Liver, Lung

Publications for Heterotaxy, Visceral, 2, Autosomal

Articles related to Heterotaxy, Visceral, 2, Autosomal:

# Title Authors PMID Year
1
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. 57 6
11799476 2002
2
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 6 57
11062482 2000
3
Left, right ... which way to turn? 57
9354777 1997
4
Trex2 enables spontaneous sister chromatid exchanges without facilitating DNA double-strand break repair. 61
21546543 2011

Variations for Heterotaxy, Visceral, 2, Autosomal

ClinVar genetic disease variations for Heterotaxy, Visceral, 2, Autosomal:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFC1 NM_001270420.1(CFC1):c.248-293C>T SNV Pathogenic 5187 rs104893611 GRCh37: 2:131355469-131355469
GRCh38: 2:130597896-130597896
2 CFC1 NM_032545.3(CFC1):c.522del (p.Ala175fs) Deletion Pathogenic 5188 rs746231039 GRCh37: 2:131350600-131350600
GRCh38: 2:130593027-130593027
3 CFC1 NM_032545.3(CFC1):c.361_362+18dup Duplication Pathogenic 5190 rs863223280 GRCh37: 2:131355422-131355423
GRCh38: 2:130597849-130597850
4 CFC1 NM_032545.4(CFC1):c.484T>C (p.Phe162Leu) SNV Benign 801752 rs776829911 GRCh37: 2:131350638-131350638
GRCh38: 2:130593065-130593065
5 CFC1 NM_032545.3(CFC1):c.433G>A (p.Ala145Thr) SNV Benign 136735 rs199715380 GRCh37: 2:131355106-131355106
GRCh38: 2:130597533-130597533

UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 2, Autosomal:

72
# Symbol AA change Variation ID SNP ID
1 CFC1 p.Arg112Cys VAR_024323 rs104893611

Expression for Heterotaxy, Visceral, 2, Autosomal

Search GEO for disease gene expression data for Heterotaxy, Visceral, 2, Autosomal.

Pathways for Heterotaxy, Visceral, 2, Autosomal

GO Terms for Heterotaxy, Visceral, 2, Autosomal

Sources for Heterotaxy, Visceral, 2, 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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