HTX8
MCID: HTR020
MIFTS: 24

Heterotaxy, Visceral, 8, Autosomal (HTX8)

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

Aliases & Classifications for Heterotaxy, Visceral, 8, Autosomal

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

Name: Heterotaxy, Visceral, 8, Autosomal 57 72 29 6
Htx8 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
heterotaxy, visceral, 8, autosomal:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617205
OMIM Phenotypic Series 57 PS306955
MeSH 44 D059446

Summaries for Heterotaxy, Visceral, 8, Autosomal

UniProtKB/Swiss-Prot : 72 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 be 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 spleen and heart, and related phenotypes are hypoplastic left heart and ventricular septal defect

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) (Updated 20-May-2021)

Related Diseases for Heterotaxy, Visceral, 8, Autosomal

Symptoms & Phenotypes for Heterotaxy, Visceral, 8, Autosomal

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypoplastic left heart 31 HP:0004383
2 ventricular septal defect 31 HP:0001629
3 abdominal situs inversus 31 HP:0003363
4 pulmonary artery atresia 31 HP:0004935
5 double outlet right ventricle 31 HP:0001719
6 atrial situs ambiguous 31 HP:0011539
7 unbalanced atrioventricular canal defect 31 HP:0011579

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Spleen, Heart

Publications for Heterotaxy, Visceral, 8, Autosomal

Articles related to Heterotaxy, Visceral, 8, Autosomal:

# Title Authors PMID Year
1
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 6 57
27616478 2016
2
Genetic Analysis Reveals a Hierarchy of Interactions between Polycystin-Encoding Genes and Genes Controlling Cilia Function during Left-Right Determination. 57
27272319 2016
3
Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2. 57
21307093 2011

Variations for Heterotaxy, Visceral, 8, Autosomal

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

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD1L1 NM_138295.4(PKD1L1):c.5072G>C (p.Cys1691Ser) SNV Pathogenic 235198 rs886037834 GRCh37: 7:47886558-47886558
GRCh38: 7:47846960-47846960
2 PKD1L1 NM_138295.4(PKD1L1):c.6473+2_6473+3del Deletion Pathogenic 235796 rs528302390 GRCh37: 7:47870812-47870813
GRCh38: 7:47831214-47831215
3 PKD1L1 NM_138295.5(PKD1L1):c.1691+2T>G SNV Pathogenic 1027700 GRCh37: 7:47944752-47944752
GRCh38: 7:47905155-47905155
4 PKD1L1 NM_138295.5(PKD1L1):c.3601C>T (p.Gln1201Ter) SNV Pathogenic 1027701 GRCh37: 7:47917149-47917149
GRCh38: 7:47877551-47877551
5 PKD1L1 NM_138295.5(PKD1L1):c.160+1G>A SNV Pathogenic 873155 rs753911740 GRCh37: 7:47982992-47982992
GRCh38: 7:47943395-47943395
6 PKD1L1-AS1 , PKD1L1 NM_138295.5(PKD1L1):c.7346+2T>C SNV Pathogenic 1027706 GRCh37: 7:47852717-47852717
GRCh38: 7:47813119-47813119
7 PKD1L1 NM_138295.5(PKD1L1):c.2332del (p.Gln778fs) Deletion Pathogenic 1032406 GRCh37: 7:47933596-47933596
GRCh38: 7:47893999-47893999
8 PKD1L1 NM_138295.5(PKD1L1):c.4035G>A (p.Trp1345Ter) SNV Pathogenic 1032407 GRCh37: 7:47906074-47906074
GRCh38: 7:47866476-47866476
9 PKD1L1 NM_138295.5(PKD1L1):c.4039C>T (p.Arg1347Ter) SNV Pathogenic 1032408 GRCh37: 7:47906070-47906070
GRCh38: 7:47866472-47866472
10 PKD1L1 NM_138295.5(PKD1L1):c.4092+1G>C SNV Pathogenic 1032409 GRCh37: 7:47906016-47906016
GRCh38: 7:47866418-47866418
11 PKD1L1 NM_138295.5(PKD1L1):c.4321C>T (p.Arg1441Ter) SNV Pathogenic 1032410 GRCh37: 7:47898312-47898312
GRCh38: 7:47858714-47858714
12 PKD1L1-AS1 , PKD1L1 NM_138295.5(PKD1L1):c.6966-2568C>T SNV Pathogenic 1032412 GRCh37: 7:47857623-47857623
GRCh38: 7:47818025-47818025
13 PKD1L1-AS1 , PKD1L1 NM_138295.5(PKD1L1):c.7014G>A (p.Trp2338Ter) SNV Pathogenic 1032413 GRCh37: 7:47855007-47855007
GRCh38: 7:47815409-47815409
14 PKD1L1-AS1 , PKD1L1 NM_138295.5(PKD1L1):c.8005C>T (p.Arg2669Ter) SNV Pathogenic 1032414 GRCh37: 7:47840435-47840435
GRCh38: 7:47800837-47800837
15 PKD1L1-AS1 , PKD1L1 NM_138295.4(PKD1L1):c.7827+6C>T SNV Uncertain significance 708345 rs145827073 GRCh37: 7:47847839-47847839
GRCh38: 7:47808241-47808241
16 PKD1L1 NM_138295.5(PKD1L1):c.5557C>T (p.Pro1853Ser) SNV Uncertain significance 1032411 GRCh37: 7:47879256-47879256
GRCh38: 7:47839658-47839658
17 PKD1L1 NM_138295.5(PKD1L1):c.8438C>T (p.Pro2813Leu) SNV Uncertain significance 1027707 GRCh37: 7:47832313-47832313
GRCh38: 7:47792715-47792715
18 PKD1L1 NM_138295.5(PKD1L1):c.5158C>T (p.His1720Tyr) SNV Uncertain significance 1027702 GRCh37: 7:47884672-47884672
GRCh38: 7:47845074-47845074
19 PKD1L1 NM_138295.5(PKD1L1):c.578G>A (p.Cys193Tyr) SNV Uncertain significance 1027703 GRCh37: 7:47970860-47970860
GRCh38: 7:47931263-47931263
20 PKD1L1 NM_138295.5(PKD1L1):c.6357G>A (p.Glu2119=) SNV Uncertain significance 1027704 GRCh37: 7:47870931-47870931
GRCh38: 7:47831333-47831333
21 PKD1L1-AS1 , PKD1L1 NM_138295.5(PKD1L1):c.7294C>T (p.Pro2432Ser) SNV Uncertain significance 1027705 GRCh37: 7:47852771-47852771
GRCh38: 7:47813173-47813173
22 PKD1L1 NM_138295.5(PKD1L1):c.2454-18C>G SNV Uncertain significance 931947 GRCh37: 7:47930379-47930379
GRCh38: 7:47890781-47890781
23 PKD1L1 NM_138295.5(PKD1L1):c.1060+4del Deletion Uncertain significance 931948 GRCh37: 7:47968797-47968797
GRCh38: 7:47929200-47929200
24 PKD1L1 NM_138295.4(PKD1L1):c.2969G>A (p.Arg990Gln) SNV Likely benign 774875 rs141646493 GRCh37: 7:47925520-47925520
GRCh38: 7:47885922-47885922
25 PKD1L1-AS1 , PKD1L1 NM_138295.5(PKD1L1):c.7418C>T (p.Ser2473Phe) SNV Likely benign 1048779 GRCh37: 7:47851578-47851578
GRCh38: 7:47811980-47811980

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

72
# Symbol AA change Variation ID SNP ID
1 PKD1L1 p.Cys1691Ser VAR_077879 rs886037834

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
53 NINDS
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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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