MCID: HTR009
MIFTS: 26

Heterotaxy, Visceral, 2, Autosomal

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

Aliases & Classifications for Heterotaxy, Visceral, 2, Autosomal

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

Name: Heterotaxy, Visceral, 2, Autosomal 57 75 29 13 6 73
Htx2 57 75
Heterotaxy, Visceral, Autosomal, Type 2 40
Htx 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
incomplete penetrance


HPO:

32
heterotaxy, visceral, 2, autosomal:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Heterotaxy, Visceral, 2, Autosomal, also known as htx2, is related to heterotaxy and maple syrup urine disease. 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 : 75 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 10.9
2 maple syrup urine disease 9.8
3 adult t-cell leukemia 9.8
4 hydrocephalus 9.8
5 leukemia 9.8
6 retinitis 9.8
7 t-cell leukemia 9.8
8 congenital hydrocephalus 9.8
9 intermediate maple syrup urine disease 9.8

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
intestinal malrotation

AbdomenSpleen:
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intestinal malrotation 32 HP:0002566
2 situs inversus totalis 32 HP:0001696
3 atrioventricular canal defect 32 HP:0006695
4 transposition of the great arteries 32 HP:0001669
5 abdominal situs inversus 32 HP:0003363
6 polysplenia 32 HP:0001748
7 double outlet right ventricle 32 HP:0001719
8 mesocardia 32 HP:0011599
9 left atrial isomerism 32 HP:0011537

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:

41
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:

75
# 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.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs104893611 GRCh37 Chromosome 2, 131355469: 131355469
2 CFC1 NM_032545.3(CFC1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs104893611 GRCh38 Chromosome 2, 130597896: 130597896
3 CFC1 NM_032545.3(CFC1): c.522delC (p.Ala175Argfs) deletion Pathogenic rs746231039 GRCh37 Chromosome 2, 131350600: 131350600
4 CFC1 NM_032545.3(CFC1): c.522delC (p.Ala175Argfs) deletion Pathogenic rs746231039 GRCh38 Chromosome 2, 130593027: 130593027
5 CFC1 NM_032545.3(CFC1): c.360_362+17dup20 duplication Pathogenic rs863223280 GRCh37 Chromosome 2, 131355424: 131355443
6 CFC1 NM_032545.3(CFC1): c.360_362+17dup20 duplication Pathogenic rs863223280 GRCh38 Chromosome 2, 130597851: 130597870

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

Molecular functions related to Heterotaxy, Visceral, 2, Autosomal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 molecular_function GO:0003674 8.62 CFC1 POTEI

Sources for Heterotaxy, Visceral, 2, 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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