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Visceral Heterotaxy (HTX)

Alias:
Heterotaxia
Heterotaxy Syndrome
Situs Ambiguus
Heterotaxy
Lateralization Defect
Left Isomerism
Incomplete Situs Inversus
Bilateral Left-Sidedness
Situs Ambiguus Viscerum
Partial Situs Inversus
Heterotaxy, Visceral
Polysplenia Syndrome
Asplenia Syndrome
Ivemark Syndrome
Right Isomerism
Situs Ambiguous
Moller Syndrome
Htx
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Visceral Heterotaxy, also known as heterotaxia, is related to situs inversus and right atrial isomerism. An important gene associated with Visceral Heterotaxy is PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are Mesodermal commitment pathway and Signaling by NODAL. Affiliated tissues include heart and spleen, and related phenotypes are growth/size/body region and nervous system
Related ID：
MALACARDS：VSC013
ICD11：1234712569

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
Antenatal
1-5/10000
151
965
2
VSC013

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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