Heterotaxy Connection

Cycle 3

Heterotaxy is a congenital condition that disrupts the normal left-right asymmetry of the body. This can result in any of the internal organs being misplaced, malformed, multiplied, or missing entirely. This disruption in asymmetry ensures that no two cases of heterotaxy are exactly alike. The cause of heterotaxy is not fully understood; some genetic links are being explored, but not all cases have been found to have a genetic cause, so research is still needed. Individuals with heterotaxy require lifelong multidisciplinary care and medical monitoring.

Last updated 04/30/2025

Clinical
Disease Class
Abdominal surgical diseases
Cardiac diseases
Ciliopathies
Circulatory system diseases
Developmental anomalies during embryogenesis
Diseases due to toxic effects
Gastroenterological diseases
Genetic diseases
Hematological diseases
Hepatic diseases
Immunological diseases
Infectious diseases
Renal diseases
Respiratory diseases
Surgical thoracic diseases
Transplant-related diseases
Vascular disease
Body Systems
Cardiovascular / Circulatory
Digestive
Renal / Urinary / Excretory
Respiratory
Organs
Arteries
Gallbladder
Heart
Intestines
Kidneys
Liver
Lungs
Pancreas
Spinal cord
Spleen
Stomach
Veins
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
ACVR2B
CFAP53
CFC1
CITED2
CRELD1
DNAH11
FOXH1
GATA4
GDF1
LEFTY-1
LEFTY-2
MMP21
NAT10
NKX2.5
NU205
NUP188
NUP210
SHROOM3
ZIC3
contributory_genes
None specified / unknown
Type of Inheritance
Not specified / unknown
Newborn Screening
No
Disease Mechanism(s)
Cilia dysfunction
Unknown
Age of Onset
Prebirth
Average Age at Diagnosis
Infancy (age 0-1)
Pre-Birth
Life Expectancy
Early childhood (age 1+-5)
Affected Sex(es)
Female
Male
National Prevalence
1001-10000
Global Prevalence
1001-10000
National Incidence
Less than 10
Global Incidence
Less than 10
Populations and/or ancestry with higher prevalence
Asians have a higher incidence rate
Symptoms / Phenotypes
abdominal swelling
hypoxemia
jaundice
respiratory insufficiency / respiratory failure
vomiting / nausea
Biomarkers
None
Existing Therapies
Other
· palliative surgeries
Organizational & Research
Cell Lines
None
Cell Lines, Institution
None
Cell Lines, share
N/A
Disease Model
None
Disease Model, share
N/A
Clinical Trial Role
Not involved
Biobank, Institution
None
Center of Excellence, Institution
Unspecified
Center of Excellence, Involvement
Consulted
Registry
No, we do not have a registry, but we plan to create one
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
In the process of creating diagnostic guidance for our website
In the process of creating formal diagnostic guidelines for publication in a peer-reviewed journal
Science Advisory Board Policies
No policies
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
None