HTX8
MCID: HTR020
MIFTS: 19

Heterotaxy, Visceral, 8, Autosomal (HTX8)

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

Aliases & Classifications for Heterotaxy, Visceral, 8, Autosomal

MalaCards integrated aliases for Heterotaxy, Visceral, 8, Autosomal:

Name: Heterotaxy, Visceral, 8, Autosomal 58 76 30 6
Htx8 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
three patients from 2 unrelated families have been reported (last curated november 2016)
two sibs died in early infancy


HPO:

33
heterotaxy, visceral, 8, autosomal:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heterotaxy, Visceral, 8, Autosomal

UniProtKB/Swiss-Prot : 76 Heterotaxy, visceral, 8, 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. HTX8 inheritance is autosomal recessive.

MalaCards based summary : Heterotaxy, Visceral, 8, Autosomal, is also known as htx8. An important gene associated with Heterotaxy, Visceral, 8, Autosomal is PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting). Affiliated tissues include heart, lung and liver, and related phenotypes are hypoplastic left heart and ventricular septal defect

OMIM : 58 Autosomal visceral heterotaxy-8 is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by Vetrini et al., 2016). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). (617205)

Related Diseases for Heterotaxy, Visceral, 8, Autosomal

Symptoms & Phenotypes for Heterotaxy, Visceral, 8, Autosomal

Human phenotypes related to Heterotaxy, Visceral, 8, Autosomal:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypoplastic left heart 33 HP:0004383
2 ventricular septal defect 33 HP:0001629
3 abdominal situs inversus 33 HP:0003363
4 pulmonary artery atresia 33 HP:0004935
5 double outlet right ventricle 33 HP:0001719
6 atrial situs ambiguous 33 HP:0011539
7 unbalanced atrioventricular canal defect 33 HP:0011579

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
ventricular septal defect
double outlet right ventricle
pulmonary atresia
malposition of the great arteries
complex congenital heart disease
more
Abdomen:
situs inversus viscerum

Clinical features from OMIM:

617205

Drugs & Therapeutics for Heterotaxy, Visceral, 8, Autosomal

Search Clinical Trials , NIH Clinical Center for Heterotaxy, Visceral, 8, Autosomal

Genetic Tests for Heterotaxy, Visceral, 8, Autosomal

Genetic tests related to Heterotaxy, Visceral, 8, Autosomal:

# Genetic test Affiliating Genes
1 Heterotaxy, Visceral, 8, Autosomal 30 PKD1L1

Anatomical Context for Heterotaxy, Visceral, 8, Autosomal

MalaCards organs/tissues related to Heterotaxy, Visceral, 8, Autosomal:

42
Heart, Lung, Liver, Spleen

Publications for Heterotaxy, Visceral, 8, Autosomal

Articles related to Heterotaxy, Visceral, 8, Autosomal:

# Title Authors Year
1
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. ( 27616478 )
2016

Variations for Heterotaxy, Visceral, 8, Autosomal

UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 8, Autosomal:

76
# Symbol AA change Variation ID SNP ID
1 PKD1L1 p.Cys1691Ser VAR_077879 rs886037834

ClinVar genetic disease variations for Heterotaxy, Visceral, 8, Autosomal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3del deletion Pathogenic rs528302390 GRCh38 Chromosome 7, 47831214: 47831215
2 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3del deletion Pathogenic rs528302390 GRCh37 Chromosome 7, 47870812: 47870813
3 PKD1L1 NM_138295.4(PKD1L1): c.5072G> C (p.Cys1691Ser) single nucleotide variant Likely pathogenic rs886037834 GRCh38 Chromosome 7, 47846960: 47846960
4 PKD1L1 NM_138295.4(PKD1L1): c.5072G> C (p.Cys1691Ser) single nucleotide variant Likely pathogenic rs886037834 GRCh37 Chromosome 7, 47886558: 47886558

Expression for Heterotaxy, Visceral, 8, Autosomal

Search GEO for disease gene expression data for Heterotaxy, Visceral, 8, Autosomal.

Pathways for Heterotaxy, Visceral, 8, Autosomal

GO Terms for Heterotaxy, Visceral, 8, Autosomal

Sources for Heterotaxy, Visceral, 8, 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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