Right isomerism
Synonyms: Ivemark syndrome · RAI · Right atrial isomerism
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of heterotaxy characterized by both atrial appendages having the morphology of a right atrial appendage, often associated with two morphologically right lungs and/or bronchi, and asplenia. Associated cardiovascular defects are frequent, including dextrocardia or mesocardia, common atrioventricular junction (atrioventricular septal defect), ventricular hypoplasia in half of cases, anomalous ventriculo-arterial connections (malposition or transposition of the great arteries), anomalous systemic and pulmonary venous connections (total anomalous pulmonary venous return), absent coronary sinus, and frequent subpulmonary stenosis. Cardiac arrhythmias are frequently observed. Typical extracardiac anomalies are midline liver, intestinal malrotation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Right isomerism | Ivemark syndrome · RAI · Right atrial isomerism |
| fr | Isomérisme droit | Isomérisme atrial droit · Syndrome d'Ivemark |
| de | Rechtsisomerie | Ivemark-Syndrom · RAI · Rechtsatriale Isomerie |
| es | Isomerismo derecho | Isomerismo auricular derecho · Síndrome de Ivemark |
| it | Isomerismo destro | RAI · Sindrome di Ivemark |
| nl | Rechter isomerie | Rechter atriaal isomerisme · RAI · Rechter atriale isomerie · Syndroom van Ivemark |
| pt | Isomerismo direito | RAI · Isomerismo auricular direito |
| pl | Zespół Ivemarka | Izomeryzm prawostronny |
| cs | Ivemarkův syndrom | = en |
| uk | Правобічна ізомерія передсердь | Ізомерія правого передсердного відростка · Синдром Айвемарка · RAI |
| zh | 右侧心房异构 | 右心耳异构 |
| tr | Sağ atriyal izomerizm | RAI · Ivemark sendromu · Sağ atriyal apendaj izomerizmi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208530 | BTNT | validated | |
| OMIM | 621079 | BTNT | validated | |
| ICD-10 | Q20.6 | NTBT | attributed | validated |
| ICD-11 | LA8Y | NTBT | index | validated |
| MONDO | 0008832 | E | validated | |
| UMLS | C3178806 | E | validated | |
| GARD | 6795 | E | validated | |
| MedDRA | 10068335 | 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:108973Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases - ORPHA:450Visceral heterotaxy
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GDF1 | 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 |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | France | Class only | Validated | 9562017[PMID]_25752370[PMID]_34631807[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 16.67 / 100 000 | France | Value and class | Validated | 8308205[PMID] |
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/97548
- This record as JSON: /data/d/97548.json