Heterotaxia

General Information (adopted from Orphanet):

Synonyms, Signs: Heterotaxy syndrome
Lateralization defect
Visceral heterotaxy
Number of Symptoms 8
OrphanetNr: 450
OMIM Id: 270100
306955
601086
605376
606325
613751
614779
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Heart position anomaly
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0003363) Abdominal situs inversus 19 / 7739
2
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
3
 (HPO:0001631) Atria septal defect 274 / 7739
4
 (HPO:0001629) Ventricular septal defect 316 / 7739
5
 (HPO:0001669) Transposition of the great arteries 36 / 7739
6
 (HPO:0002086) Abnormality of the respiratory system 17 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: