Familial patent arterial duct
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial patent arterial duct | |
| fr | Persistance du canal artériel familiale | |
| de | Persistierender Ductus arteriosus, familiäre Form | Offener Ductus arteriosus, familiäre Form |
| es | Ductus arterioso persistente familiar | Conducto arterioso persistente · Persistencia del conducto arterioso |
| it | Dotto arterioso pervio familiare | |
| nl | Familiale persisterende ductus arteriosus | |
| pt | Persistência do canal arterial familiar | |
| pl | Rodzinny przetrwały przewód tętniczy | |
| cs | Dědičná otevřená Botallova dučej | |
| uk | Сімейна персистуюча артеріальна протока | |
| zh | 家族性动脉导管未闭 | |
| tr | Ailesel patent arter kanalı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607411 | BTNT | validated | |
| OMIM | 617035 | BTNT | validated | |
| OMIM | 617039 | BTNT | validated | |
| ICD-10 | Q25.0 | NTBT | attributed | validated |
| ICD-11 | LA8B.4 | NTBT | attributed | validated |
| MONDO | 0018758 | E | validated | |
| UMLS | C5568140 | 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:95485Arterial duct anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases - ORPHA:271853Genetic cardiac anomaly
rare genetic diseases - ORPHA:211240Genetic vascular anomaly
rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRDM6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9350 | ENSG00000061455 | 616982 | 5q23.2 | PR/SET domain 6 | 27181681[PMID] |
| TFAP2B | Disease-causing germline mutation(s) in | Assessed | HGNC:11743 | ENSG00000008196 | 601601 | 6p12.3 | transcription factor AP-2 beta | 21643846[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466729
- This record as JSON: /data/d/466729.json