HTX3
MCID: HTR012
MIFTS: 13

Heterotaxy, Visceral, 3, Autosomal (HTX3)

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

Aliases & Classifications for Heterotaxy, Visceral, 3, Autosomal

MalaCards integrated aliases for Heterotaxy, Visceral, 3, Autosomal:

Name: Heterotaxy, Visceral, 3, Autosomal 57 13 70
Heterotaxy, Visceral, Autosomal, Type 3 39
Htx3 57

Classifications:



External Ids:

OMIM® 57 606325
OMIM Phenotypic Series 57 PS306955
UMLS 70 C1853444

Summaries for Heterotaxy, Visceral, 3, Autosomal

OMIM® : 57 Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by 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 (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). (606325) (Updated 20-May-2021)

MalaCards based summary : Heterotaxy, Visceral, 3, Autosomal, is also known as heterotaxy, visceral, autosomal, type 3. An important gene associated with Heterotaxy, Visceral, 3, Autosomal is HTX3 (Heterotaxy, Visceral, 3). Affiliated tissues include spleen.

Related Diseases for Heterotaxy, Visceral, 3, Autosomal

Symptoms & Phenotypes for Heterotaxy, Visceral, 3, Autosomal

Clinical features from OMIM®:

606325 (Updated 20-May-2021)

Drugs & Therapeutics for Heterotaxy, Visceral, 3, Autosomal

Search Clinical Trials , NIH Clinical Center for Heterotaxy, Visceral, 3, Autosomal

Genetic Tests for Heterotaxy, Visceral, 3, Autosomal

Anatomical Context for Heterotaxy, Visceral, 3, Autosomal

MalaCards organs/tissues related to Heterotaxy, Visceral, 3, Autosomal:

40
Spleen

Publications for Heterotaxy, Visceral, 3, Autosomal

Articles related to Heterotaxy, Visceral, 3, Autosomal:

# Title Authors PMID Year
1
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse. 57
12607115 2003
2
Recurrent involvement of chromosomal region 6q21 in heterotaxy. 57
11562933 2001
3
Fish mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia. 57
9560952 1997
4
Left, right ... which way to turn? 57
9354777 1997
5
De novo balanced translocation (6;18)(q21;q21.3 or q22) [corrected] in a patient with heterotaxia. 57
8958327 1996

Variations for Heterotaxy, Visceral, 3, Autosomal

Expression for Heterotaxy, Visceral, 3, Autosomal

Search GEO for disease gene expression data for Heterotaxy, Visceral, 3, Autosomal.

Pathways for Heterotaxy, Visceral, 3, Autosomal

GO Terms for Heterotaxy, Visceral, 3, Autosomal

Sources for Heterotaxy, Visceral, 3, 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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
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
Content
Loading form....