Heterotaxy Connection

Cycle 3

Web:

https://www.heterotaxyconnection.org

Contact:

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 04/30/2026

Clinical

Disease Class

Abdominal surgical diseases

Cardiac malformations

Ciliopathies

Developmental anomalies during embryogenesis

Gastroenterological diseases

Immunological diseases

Renal diseases

Respiratory diseases

Surgical thoracic diseases

Body Systems

Cardiovascular / Circulatory

Digestive

Renal / Urinary / Excretory

Respiratory

Organs

Arteries

Bile ducts

Heart

Intestines

Kidneys

Liver

Lungs

Pancreas

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

NODAL

NU205

NUP188

NUP210

SHROOM3

ZIC3

Contributory Genes

None specified / unknown

Type of Inheritance

Not specified / unknown

Newborn Screening

Disease Mechanism(s)

Unknown

Age of Onset

Prebirth

Average Age at Diagnosis

Pre-Birth

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Affected Sex(es)

Female

Intersex

Male

National Prevalence

1001-10000

Global Prevalence

1001-10000

National Incidence

10000+

Global Incidence

10000+

Populations and/or ancestry with higher prevalence

China has a higher prevalence

Symptoms / Phenotypes

abdominal swelling

hypoxemia

jaundice

respiratory insufficiency / respiratory failure

vomiting / nausea

Biomarkers

None

Existing Therapies

Other

· palliative surgeries

Therapies in Development

Not applicable

Therapeutic Development Stages

Not applicable/No treatments available

Therapeutic Development Role

None

Organizational & Research

Cell Lines

None

Cell Lines, Institution

None

Cell Lines, share

N/A

Disease Model

None

Disease Model, share

N/A

Organizational Challenges

Not applicable

Clinical Trial Role

Not involved

Biobank, Institution

None

Center of Excellence, Institution

Unspecified

Center of Excellence, Involvement

Consulted

Designed

Registry

Yes, we have collaborated on a registry

Data Collected, Registry

Electronic health records/electronic medical records

Data Entered by, Registry

Clinicians

Platform, Registry

Not specified

Natural History Study

Yes, we have a natural history study that we created

Data Collected, Natural History Study

Imaging data

Patient-reported outcomes

Retrospective data

Platform, Natural History Study

Citizen Health

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

No, we do not have any ICD codes

Diagnostic Guidelines

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

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

We don't have a Research Roadmap

None