MCID: HTR023
MIFTS: 19

Heterotaxy, Visceral, 6, Autosomal

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

Aliases & Classifications for Heterotaxy, Visceral, 6, Autosomal

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

Name: Heterotaxy, Visceral, 6, Autosomal 57 75 29 6 73
Heterotaxy, Visceral, 6, Autosomal Recessive 57 13
Htx6 57 75
Heterotaxy, Visceral, Autosomal, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
heterotaxy, visceral, 6, autosomal:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 57 614779
MeSH 44 D059446
UMLS 73 C3553676

Summaries for Heterotaxy, Visceral, 6, Autosomal

UniProtKB/Swiss-Prot : 75 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 been associated with 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 liver, heart and spleen, and related phenotypes are dextrocardia and transposition of the great arteries

Description from OMIM: 614779

Related Diseases for Heterotaxy, Visceral, 6, Autosomal

Symptoms & Phenotypes for Heterotaxy, Visceral, 6, Autosomal

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
dextrocardia
complex congenital heart malformation (in 1 patient)

Respiratory:
recurrent cough, mild (1 patient)

Abdomen Liver:
midline liver

Laboratory Abnormalities:
normal ciliary structure and function

Cardiovascular Vascular:
transposition of the great arteries
anomalous pulmonary drainage

Abdomen:
situs inversus viscerum

AbdomenSpleen:
inverted spleen


Clinical features from OMIM:

614779

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

32
# Description HPO Frequency HPO Source Accession
1 dextrocardia 32 HP:0001651
2 transposition of the great arteries 32 HP:0001669
3 abdominal situs inversus 32 HP:0003363

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

Anatomical Context for Heterotaxy, Visceral, 6, Autosomal

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

41
Liver, Heart, Spleen, Lung

Publications for Heterotaxy, Visceral, 6, Autosomal

Variations for Heterotaxy, Visceral, 6, Autosomal

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

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFAP53 CCDC11, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
2 CFAP53 NM_145020.4(CFAP53): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic rs375801610 GRCh38 Chromosome 18, 50262168: 50262168
3 CFAP53 NM_145020.4(CFAP53): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic rs375801610 GRCh37 Chromosome 18, 47788538: 47788538
4 CFAP53 NM_145020.4(CFAP53): c.798T> A (p.Ile266=) single nucleotide variant Benign rs113764917 GRCh38 Chromosome 18, 50250956: 50250956
5 CFAP53 NM_145020.4(CFAP53): c.798T> A (p.Ile266=) single nucleotide variant Benign rs113764917 GRCh37 Chromosome 18, 47777326: 47777326
6 CFAP53 NM_145020.4(CFAP53): c.615G> C (p.Trp205Cys) single nucleotide variant Benign rs113161381 GRCh37 Chromosome 18, 47778013: 47778013
7 CFAP53 NM_145020.4(CFAP53): c.615G> C (p.Trp205Cys) single nucleotide variant Benign rs113161381 GRCh38 Chromosome 18, 50251643: 50251643
8 CFAP53 NM_145020.4(CFAP53): c.115A> C (p.Arg39=) single nucleotide variant Benign rs112087763 GRCh37 Chromosome 18, 47788544: 47788544
9 CFAP53 NM_145020.4(CFAP53): c.115A> C (p.Arg39=) single nucleotide variant Benign rs112087763 GRCh38 Chromosome 18, 50262174: 50262174
10 CFAP53 NM_145020.4(CFAP53): c.57A> G (p.Lys19=) single nucleotide variant Benign rs180778332 GRCh38 Chromosome 18, 50266348: 50266348
11 CFAP53 NM_145020.4(CFAP53): c.57A> G (p.Lys19=) single nucleotide variant Benign rs180778332 GRCh37 Chromosome 18, 47792718: 47792718
12 CFAP53 NM_145020.4(CFAP53): c.1514G> T (p.Arg505Leu) single nucleotide variant Uncertain significance rs766960984 GRCh37 Chromosome 18, 47753782: 47753782
13 CFAP53 NM_145020.4(CFAP53): c.1514G> T (p.Arg505Leu) single nucleotide variant Uncertain significance rs766960984 GRCh38 Chromosome 18, 50227412: 50227412
14 CFAP53 NM_145020.4(CFAP53): c.740C> T (p.Ala247Val) single nucleotide variant Uncertain significance rs765953509 GRCh37 Chromosome 18, 47777888: 47777888
15 CFAP53 NM_145020.4(CFAP53): c.740C> T (p.Ala247Val) single nucleotide variant Uncertain significance rs765953509 GRCh38 Chromosome 18, 50251518: 50251518
16 CFAP53 NM_145020.4(CFAP53): c.494G> A (p.Arg165His) single nucleotide variant Benign rs138848935 GRCh38 Chromosome 18, 50251764: 50251764
17 CFAP53 NM_145020.4(CFAP53): c.494G> A (p.Arg165His) single nucleotide variant Benign rs138848935 GRCh37 Chromosome 18, 47778134: 47778134

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

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