MCID: HTR020
MIFTS: 18

Heterotaxy, Visceral, 8, Autosomal

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

Aliases & Classifications for Heterotaxy, Visceral, 8, Autosomal

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

Name: Heterotaxy, Visceral, 8, Autosomal 57 75 29 6
Htx8 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
heterotaxy, visceral, 8, autosomal:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heterotaxy, Visceral, 8, Autosomal

UniProtKB/Swiss-Prot : 75 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 ventricular septal defect and double outlet right ventricle

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
complex congenital heart disease
atrial situs solitus
atrial situs ambiguus
unbalanced atrioventricular septal defect
ventricular septal defect
more
Abdomen:
situs inversus viscerum


Clinical features from OMIM:

617205

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 32 HP:0001629
2 double outlet right ventricle 32 HP:0001719
3 abdominal situs inversus 32 HP:0003363
4 pulmonary artery atresia 32 HP:0004935
5 atrial situs ambiguous 32 HP:0011539
6 unbalanced atrioventricular canal defect 32 HP:0011579

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 29 PKD1L1

Anatomical Context for Heterotaxy, Visceral, 8, Autosomal

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

41
Heart, Lung, Liver, Spleen

Publications for Heterotaxy, Visceral, 8, Autosomal

Variations for Heterotaxy, Visceral, 8, Autosomal

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

75
# 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+3delTG deletion Pathogenic rs528302390 GRCh38 Chromosome 7, 47831214: 47831215
2 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3delTG 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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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