Cardiac-urogenital syndrome
Synonyms: MYRF-related cardiac urogenital syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambigous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cardiac-urogenital syndrome | MYRF-related cardiac urogenital syndrome |
| fr | Syndrome cardiaque-urogénital | |
| de | Kardio-urogenitales Syndrom | MYRF-assoziiertes kardio-urogenitales Syndrom |
| es | Síndrome cardio-urogenital | Síndrome cardíaco urogenital asociado con el gen MYRF |
| it | Sindrome cardiaca-urogenitale | Sindrome cardiaca urogenitale correlata a MYRF |
| nl | Cardiaal-urogenitaal syndroom | MYRF-gerelateerd cardiaal-urogenitaal syndroom |
| pt | Síndrome cardíaco-urogenital | Síndrome cardíaco urogenital MYRF-relacionada |
| pl | Zespół sercowo-moczowo-płciowy | = en |
| cs | Kardio-urogenitální syndrom | = en |
| uk | Кардіо-урогенітальний синдром | Серцево-сечостатевий синдром, повязаний з ММРФ |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618280 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0032653 | E | validated | |
| UMLS | C4748946 | 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 (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYRF | Disease-causing germline mutation(s) in | Assessed | HGNC:1181 | ENSG00000124920 | 608329 | 11q12.2 | myelin regulatory factor | 36695166[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/647811
- This record as JSON: /data/d/647811.json