Visceral heterotaxy
Synonyms: Heterotaxy · Heterotaxy syndrome
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by abnormal arrangement of the thoraco-abdominal organs across the left-right axis of the body. By definition, it does not include situs inversus totalis (total mirror-imagery).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Visceral heterotaxy | Heterotaxy · Heterotaxy syndrome |
| fr | Hétérotaxie viscérale | Hétérotaxie · Syndrome d'hétérotaxie |
| de | Heterotaxie, viszerale | Heterotaxie · Heterotaxie-Syndrom · HTX |
| es | Heterotaxia visceral | Heterotaxia · Síndrome de heterotaxia |
| it | Eterotassia viscerale | Eterotassia · Sindrome eterotassica · HTX |
| nl | Viscerale heterotaxie | Heterotaxie · Heterotaxie-syndroom |
| pt | Heterotaxia visceral | Síndrome de heterotaxia · Heterotaxia |
| pl | Heterotaksja trzewna | Defekt lateralizacji · Heterotaksja trzewna · Zespół heterotaksji |
| cs | Heterotaxie | Heterotaktický syndrom · Defekt lateralizace · Viscerální heterotaxie |
| uk | Гетеротаксія | Синдром гетеротаксису · Дефект латералізації · Вісцеральна гетеротаксис |
| zh | 内脏异位 | 偏侧缺陷 |
| tr | Heterotaksili | Heterotaksi sendromu · Viseral heterotaksi · Lateralizasyon defekti |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270100 | BTNT | validated | |
| OMIM | 306955 | BTNT | validated | |
| OMIM | 601086 | BTNT | validated | |
| OMIM | 605376 | BTNT | validated | |
| OMIM | 606325 | BTNT | validated | |
| OMIM | 613751 | BTNT | validated | |
| OMIM | 614779 | BTNT | validated | |
| OMIM | 616749 | BTNT | validated | |
| OMIM | 617205 | BTNT | validated | |
| OMIM | 618948 | BTNT | validated | |
| OMIM | 619702 | BTNT | validated | |
| ICD-10 | Q89.3 | E | specific | validated |
| MONDO | 0018677 | E | validated | |
| MONDO | 18677 | E | validated | |
| MeSH | D059446 | E | validated | |
| UMLS | C3178805 | E | validated | |
| GARD | 10875 | E | validated | |
| MedDRA | 10067265 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98716Heart position anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations
Children (2):
Codes that Orphanet moved or referred to this one:
- ORPHA:157769OBSOLETE: Situs ambiguus referred to · inactive
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GDF1 | ORPHA:97548Right isomerism | Disease-causing germline mutation(s) in | Assessed | HGNC:4214 | ENSG00000130283 | 602880 | 19p13.11 | growth differentiation factor 1 | 20413652[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 11 / 100 000 | United States | Value and class | Validated | 25099286[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/450
- This record as JSON: /data/d/450.json