HTX6
MCID: HTR023
MIFTS: 24

Heterotaxy, Visceral, 6, Autosomal (HTX6)

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

Aliases & Classifications for Heterotaxy, Visceral, 6, Autosomal

MalaCards integrated aliases for Heterotaxy, Visceral, 6, Autosomal:

Name: Heterotaxy, Visceral, 6, Autosomal 57 72 29 6 70
Heterotaxy, Visceral, 6, Autosomal Recessive 57 29 13
Htx6 57 72
Heterotaxy, Visceral, Autosomal, Type 6 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
three patients from 2 unrelated families have been reported (last curated august 2015)


HPO:

31
heterotaxy, visceral, 6, autosomal:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM® 57 614779
OMIM Phenotypic Series 57 PS306955
MeSH 44 D059446
UMLS 70 C3553676

Summaries for Heterotaxy, Visceral, 6, Autosomal

UniProtKB/Swiss-Prot : 72 Heterotaxy, visceral, 6, 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. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage.

MalaCards based summary : Heterotaxy, Visceral, 6, Autosomal, is also known as heterotaxy, visceral, 6, autosomal recessive. An important gene associated with Heterotaxy, Visceral, 6, Autosomal is CFAP53 (Cilia And Flagella Associated Protein 53). Affiliated tissues include spleen, heart and liver, and related phenotypes are abdominal situs inversus and dextrocardia

More information from OMIM: 614779 PS306955

Related Diseases for Heterotaxy, Visceral, 6, Autosomal

Symptoms & Phenotypes for Heterotaxy, Visceral, 6, Autosomal

Human phenotypes related to Heterotaxy, Visceral, 6, Autosomal:

31
# Description HPO Frequency HPO Source Accession
1 abdominal situs inversus 31 HP:0003363
2 dextrocardia 31 HP:0001651
3 transposition of the great arteries 31 HP:0001669

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
dextrocardia
complex congenital heart malformation (in 1 patient)

Abdomen Liver:
midline liver

Respiratory:
recurrent cough, mild (1 patient)

Laboratory Abnormalities:
normal ciliary structure and function

Cardiovascular Vascular:
transposition of the great arteries
anomalous pulmonary drainage

Abdomen:
situs inversus viscerum

Abdomen Spleen:
inverted spleen

Clinical features from OMIM®:

614779 (Updated 05-Apr-2021)

Drugs & Therapeutics for Heterotaxy, Visceral, 6, Autosomal

Search Clinical Trials , NIH Clinical Center for Heterotaxy, Visceral, 6, Autosomal

Genetic Tests for Heterotaxy, Visceral, 6, Autosomal

Genetic tests related to Heterotaxy, Visceral, 6, Autosomal:

# Genetic test Affiliating Genes
1 Heterotaxy, Visceral, 6, Autosomal 29 CFAP53
2 Heterotaxy, Visceral, 6, Autosomal Recessive 29

Anatomical Context for Heterotaxy, Visceral, 6, Autosomal

MalaCards organs/tissues related to Heterotaxy, Visceral, 6, Autosomal:

40
Spleen, Heart, Liver

Publications for Heterotaxy, Visceral, 6, Autosomal

Articles related to Heterotaxy, Visceral, 6, Autosomal:

# Title Authors PMID Year
1
Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer. 6 57
25504577 2015
2
A human laterality disorder associated with recessive CCDC11 mutation. 6 57
22577226 2012
3
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 61
23035047 2012

Variations for Heterotaxy, Visceral, 6, Autosomal

ClinVar genetic disease variations for Heterotaxy, Visceral, 6, Autosomal:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFAP53 CCDC11, IVS6DS, G-A, +1 SNV Pathogenic 37014 GRCh37:
GRCh38:
2 CFAP53 NM_145020.5(CFAP53):c.877C>T (p.Gln293Ter) SNV Pathogenic 997463 GRCh37: 18:47777247-47777247
GRCh38: 18:50250877-50250877
3 CFAP53 NM_145020.5(CFAP53):c.121C>T (p.Arg41Ter) SNV Pathogenic 208550 rs375801610 GRCh37: 18:47788538-47788538
GRCh38: 18:50262168-50262168
4 CFAP53 NM_145020.5(CFAP53):c.1411C>T (p.Arg471Ter) SNV Uncertain significance 1030233 GRCh37: 18:47753885-47753885
GRCh38: 18:50227515-50227515
5 CFAP53 NM_145020.5(CFAP53):c.1475C>T (p.Ser492Phe) SNV Uncertain significance 1043108 GRCh37: 18:47753821-47753821
GRCh38: 18:50227451-50227451
6 CFAP53 NM_145020.5(CFAP53):c.253G>A (p.Asp85Asn) SNV Uncertain significance 959683 GRCh37: 18:47788406-47788406
GRCh38: 18:50262036-50262036
7 CFAP53 NM_145020.5(CFAP53):c.1101C>A (p.Asp367Glu) SNV Uncertain significance 969306 GRCh37: 18:47769382-47769382
GRCh38: 18:50243012-50243012
8 CFAP53 NM_145020.5(CFAP53):c.769C>T (p.Arg257Cys) SNV Uncertain significance 960150 GRCh37: 18:47777859-47777859
GRCh38: 18:50251489-50251489
9 CFAP53 NM_145020.5(CFAP53):c.1033T>C (p.Tyr345His) SNV Uncertain significance 957789 GRCh37: 18:47769450-47769450
GRCh38: 18:50243080-50243080
10 CFAP53 NM_145020.5(CFAP53):c.1514G>T (p.Arg505Leu) SNV Uncertain significance 473245 rs766960984 GRCh37: 18:47753782-47753782
GRCh38: 18:50227412-50227412
11 CFAP53 NM_145020.5(CFAP53):c.1183T>G (p.Cys395Gly) SNV Uncertain significance 964003 GRCh37: 18:47769300-47769300
GRCh38: 18:50242930-50242930
12 CFAP53 NM_145020.5(CFAP53):c.740C>T (p.Ala247Val) SNV Uncertain significance 540465 rs765953509 GRCh37: 18:47777888-47777888
GRCh38: 18:50251518-50251518
13 CFAP53 NM_145020.5(CFAP53):c.239G>A (p.Arg80Gln) SNV Uncertain significance 641101 rs76334647 GRCh37: 18:47788420-47788420
GRCh38: 18:50262050-50262050
14 CFAP53 NM_145020.5(CFAP53):c.1514G>A (p.Arg505His) SNV Uncertain significance 651324 rs766960984 GRCh37: 18:47753782-47753782
GRCh38: 18:50227412-50227412
15 CFAP53 NM_145020.5(CFAP53):c.1513C>T (p.Arg505Cys) SNV Likely benign 767053 rs192619553 GRCh37: 18:47753783-47753783
GRCh38: 18:50227413-50227413
16 CFAP53 NM_145020.5(CFAP53):c.124C>T (p.Arg42Cys) SNV Likely benign 771951 rs138060809 GRCh37: 18:47788535-47788535
GRCh38: 18:50262165-50262165
17 CFAP53 NM_145020.5(CFAP53):c.945A>G (p.Gln315=) SNV Benign 262562 rs368815693 GRCh37: 18:47777179-47777179
GRCh38: 18:50250809-50250809
18 CFAP53 NM_145020.5(CFAP53):c.57A>G (p.Lys19=) SNV Benign 262554 rs180778332 GRCh37: 18:47792718-47792718
GRCh38: 18:50266348-50266348
19 CFAP53 NM_145020.5(CFAP53):c.115A>C (p.Arg39=) SNV Benign 262550 rs112087763 GRCh37: 18:47788544-47788544
GRCh38: 18:50262174-50262174
20 CFAP53 NM_145020.5(CFAP53):c.789C>T (p.Asn263=) SNV Benign 262558 rs114015053 GRCh37: 18:47777335-47777335
GRCh38: 18:50250965-50250965
21 CFAP53 NM_145020.5(CFAP53):c.939C>T (p.Leu313=) SNV Benign 262561 rs35308427 GRCh37: 18:47777185-47777185
GRCh38: 18:50250815-50250815
22 CFAP53 NM_145020.5(CFAP53):c.305G>A (p.Arg102His) SNV Benign 262551 rs76722120 GRCh37: 18:47787602-47787602
GRCh38: 18:50261232-50261232
23 CFAP53 NM_145020.5(CFAP53):c.910A>G (p.Arg304Gly) SNV Benign 766857 rs34499039 GRCh37: 18:47777214-47777214
GRCh38: 18:50250844-50250844
24 CFAP53 NM_145020.5(CFAP53):c.615G>C (p.Trp205Cys) SNV Benign 262555 rs113161381 GRCh37: 18:47778013-47778013
GRCh38: 18:50251643-50251643
25 CFAP53 NM_145020.5(CFAP53):c.798T>A (p.Ile266=) SNV Benign 262559 rs113764917 GRCh37: 18:47777326-47777326
GRCh38: 18:50250956-50250956
26 CFAP53 NM_145020.5(CFAP53):c.494G>A (p.Arg165His) SNV Benign 540466 rs138848935 GRCh37: 18:47778134-47778134
GRCh38: 18:50251764-50251764

Expression for Heterotaxy, Visceral, 6, Autosomal

Search GEO for disease gene expression data for Heterotaxy, Visceral, 6, Autosomal.

Pathways for Heterotaxy, Visceral, 6, Autosomal

GO Terms for Heterotaxy, Visceral, 6, Autosomal

Sources for Heterotaxy, Visceral, 6, Autosomal

3 CDC
7 CNVD
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10 dbSNP
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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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