HTX3
MCID: HTR012
MIFTS: 14

Heterotaxy, Visceral, 3, Autosomal (HTX3)

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

Aliases & Classifications for Heterotaxy, Visceral, 3, Autosomal

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

Name: Heterotaxy, Visceral, 3, Autosomal 56 13 71
Heterotaxy, Visceral, Autosomal, Type 3 39
Htx3 56

Classifications:



External Ids:

OMIM 56 606325
OMIM Phenotypic Series 56 PS306955
MedGen 41 C1853444
UMLS 71 C1853444

Summaries for Heterotaxy, Visceral, 3, Autosomal

OMIM : 56 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)

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, heart and liver.

Related Diseases for Heterotaxy, Visceral, 3, Autosomal

Symptoms & Phenotypes for Heterotaxy, Visceral, 3, Autosomal

Clinical features from OMIM:

606325

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, Heart, Liver, Lung

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. 56
12607115 2003
2
Recurrent involvement of chromosomal region 6q21 in heterotaxy. 56
11562933 2001
3
Fish mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia. 56
9560952 1997
4
Left, right ... which way to turn? 56
9354777 1997
5
De novo balanced translocation (6;18)(q21;q21.3 or q22) [corrected] in a patient with heterotaxia. 56
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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