Situs inversus totalis
Synonyms: Complete situs inversus · Complete situs inversus viscerum · Situs inversus
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by complete mirror-imaged arrangement of the internal organs across the left-right axis of the body. Primary ciliary dyskinesia, Kartagener type, is frequently associated. Congenital heart disease are present in 43% of cases, which is less frequent than in patients with heterotaxy. Similarly, extracardiac and vascular anomalies can be associated (e.g. intestinal malrotation, spleen anomalies, absence of retrohepatic inferior vena cava, bilateral superior vena cava), but less frequently that in heterotaxy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Situs inversus totalis | Complete situs inversus · Complete situs inversus viscerum · Situs inversus |
| fr | Situs inversus total | Situs inversus · Situs inversus complet · Situs inversus totalis |
| de | Situs inversus totalis | Situs inversus · Situs inversus viscerum, kompletter · Situs inversus, kompletter |
| es | Heterotaxia viscero-atrial | |
| it | Situs inverso totale | Situs inversus · Situs inversus completo · Situs inversus viscerum completo |
| nl | Situs inversus totalis | Situs inversus · Volledige situs inversus · Volledige situs inversus viscerum |
| pt | Situs inversus totalis | Heterotaxia viscero-auricular |
| pl | Zespół odwrócenia trzewi | Całkowite odwrócenie trzewi · Odwrócenie trzewi |
| cs | Situs viscerum inversus totalis | Kompletní situs inversus · Kompletní situs inversus viscerum · Situs inversus |
| uk | Situs inversus totalis | Повний situs inversus · Повний situs inversus viscerum · Situs inversus |
| zh | 完全性内脏逆位 | 完全性内脏逆位 |
| tr | Situs inversus totalis | Situs inversus · Tam situs inversus · Tam situs inversus visserum |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619607 | BTNT | validated | |
| OMIM | 619608 | BTNT | validated | |
| ICD-10 | Q89.3 | NTBT | inclusion | validated |
| ICD-11 | LA82 | E | specific | validated |
| MONDO | 0010029 | E | validated | |
| MONDO | 10029 | E | validated | |
| UMLS | C0037221 | E | validated | |
| GARD | 4883 | 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 (3):
- ORPHA:271853Genetic cardiac anomaly
rare genetic diseases - ORPHA:98716Heart position anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations - ORPHA:108971Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNAH9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2953 | ENSG00000007174 | 603330 | 17p12 | dynein axonemal heavy chain 9 | 30471718[PMID] |
| MMP21 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14357 | ENSG00000154485 | 608416 | 10q26.2 | matrix metallopeptidase 21 | 26429889[PMID]_26437028[PMID] |
| ANKS3 | Disease-causing germline mutation(s) in | Assessed | HGNC:29422 | ENSG00000168096 | 617310 | 16p13.3 | ankyrin repeat and sterile alpha motif domain containing 3 | 27417436[PMID] |
| CFAP52 | Disease-causing germline mutation(s) in | Assessed | HGNC:16053 | ENSG00000166596 | 609804 | 17p13.1 | cilia and flagella associated protein 52 | 25469542[PMID] |
| CFAP53 | Disease-causing germline mutation(s) in | Assessed | HGNC:26530 | ENSG00000172361 | 614759 | 18q21.1 | cilia and flagella associated protein 53 | 22577226[PMID] |
| CIROP | Disease-causing germline mutation(s) in | Assessed | HGNC:53647 | ENSG00000283654 | 619703 | 14q11.2 | ciliated left-right organizer metallopeptidase | 34903892[PMID] |
| NME7 | Disease-causing germline mutation(s) in | Assessed | HGNC:20461 | ENSG00000143156 | 613465 | 1q24.2 | NME/NM23 family member 7 | 27060491[PMID] |
| NODAL | Disease-causing germline mutation(s) in | Assessed | HGNC:7865 | ENSG00000156574 | 601265 | 10q22.1 | nodal growth differentiation factor | 19064609[PMID] |
| PKD1L1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18053 | ENSG00000158683 | 609721 | 7p12.3 | polycystin 1 like 1, transient receptor potential channel interacting | 27616478[PMID] |
| CITED2 | Major susceptibility factor in | Not yet assessed | HGNC:1987 | ENSG00000164442 | 602937 | 6q24.1 | Cbp/p300 interacting transactivator with ED-rich tail 2 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | United States | Value and class | Validated | 25099286[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | 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/101063
- This record as JSON: /data/d/101063.json