HTX2
MCID: HTR009
MIFTS: 24

Heterotaxy, Visceral, 2, Autosomal (HTX2)

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

Aliases & Classifications for Heterotaxy, Visceral, 2, Autosomal

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

Name: Heterotaxy, Visceral, 2, Autosomal 58 76 30 13 6 74
Htx2 58 76
Heterotaxy, Visceral, Autosomal, Type 2 41
Htx 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
incomplete penetrance


HPO:

33
heterotaxy, visceral, 2, autosomal:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Heterotaxy, Visceral, 2, Autosomal

OMIM : 58 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)

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 lung, liver and heart, and related phenotypes are intestinal malrotation and situs inversus totalis

UniProtKB/Swiss-Prot : 76 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 been associated with variety of congenital defects including cardiac malformations.

Related Diseases for Heterotaxy, Visceral, 2, Autosomal

Diseases in the Visceral Heterotaxy family:

Heterotaxy, Visceral, 5, Autosomal Heterotaxy, Visceral, 2, Autosomal
Heterotaxy, Visceral, 3, Autosomal Heterotaxy, Visceral, 4, Autosomal
Heterotaxy, Visceral, 6, Autosomal Heterotaxy, Visceral, 7, Autosomal
Heterotaxy, Visceral, 8, Autosomal

Diseases related to Heterotaxy, Visceral, 2, Autosomal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 heterotaxy 11.1
2 hydrocephalus 10.3
3 congenital hydrocephalus 10.3
4 maple syrup urine disease 10.0
5 adult t-cell leukemia 10.0
6 leukemia 10.0
7 t-cell leukemia 10.0
8 learning disability 10.0
9 intermediate maple syrup urine disease 10.0

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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intestinal malrotation 33 HP:0002566
2 situs inversus totalis 33 HP:0001696
3 atrioventricular canal defect 33 HP:0006695
4 transposition of the great arteries 33 HP:0001669
5 abdominal situs inversus 33 HP:0003363
6 polysplenia 33 HP:0001748
7 double outlet right ventricle 33 HP:0001719
8 mesocardia 33 HP:0011599
9 left atrial isomerism 33 HP:0011537

Symptoms via clinical synopsis from OMIM:

58
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

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 30 CFC1

Anatomical Context for Heterotaxy, Visceral, 2, Autosomal

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

42
Lung, Liver, Heart, Spleen

Publications for Heterotaxy, Visceral, 2, Autosomal

Variations for Heterotaxy, Visceral, 2, Autosomal

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

76
# Symbol AA change Variation ID SNP ID
1 CFC1 p.Arg112Cys VAR_024323 rs104893611

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFC1 NM_032545.3(CFC1): c.360_362+17dup duplication Pathogenic rs863223280 GRCh38 Chromosome 2, 130597851: 130597870
2 CFC1 NM_032545.3(CFC1): c.360_362+17dup duplication Pathogenic rs863223280 GRCh37 Chromosome 2, 131355424: 131355443
3 CFC1 NM_032545.3(CFC1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs104893611 GRCh37 Chromosome 2, 131355469: 131355469
4 CFC1 NM_032545.3(CFC1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs104893611 GRCh38 Chromosome 2, 130597896: 130597896
5 CFC1 NM_032545.3(CFC1): c.522delC (p.Ala175Argfs) deletion Pathogenic rs746231039 GRCh37 Chromosome 2, 131350600: 131350600
6 CFC1 NM_032545.3(CFC1): c.522delC (p.Ala175Argfs) deletion Pathogenic rs746231039 GRCh38 Chromosome 2, 130593027: 130593027

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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