Propylthiouracil embryofetopathy
Synonyms: PTU embryofetopathy · PTU embryopathy · Propylthiouracil embryopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Propylthiouracil embryofetopathy | PTU embryofetopathy · PTU embryopathy · Propylthiouracil embryopathy |
| fr | Embryofoetopathie au propylthiouracile | Embryofoetopathie au PTU · Embryopathie au PTU · Embryopathie au propylthiouracile |
| de | Propylthiouracil-Embryopathie | PTU-Embryofetopathie · PTU-Embryopathie |
| es | Embriofetopatía por propiltiouracilo | Embriofetopatía por PTU · Embriopatía por PTU · Embriopatía por propiltiouracilo |
| it | Embrio/fetopatia da propiltiouracile | |
| nl | Propylthiouracil-embryofoetopathie | PTU-embryofoetopathie · PTU-embryopathie · Propylthiouracil-embryopathie |
| pt | Propiltiouracil embriofetopatia | |
| pl | Embriofetopatia spowodowana propylotiouracylem | Embriofetopatia PTU · Embriopatia PTU · Embriopatia spowodowana propylotiouracylem |
| cs | Propylthiouracilová embryofetopatie | PTU embryopathy · PTU embryofetopathy · Propylthiouracil embryopathy · PTU embryopatie · PTU embryofetopatie · Propylthiouracilová embryopatie |
| uk | Пропілтіоурацилова ембріофетопатія | Пропілтіоурацилова ембріопатія · Ембріофетопатія PTU · Ембріопатія PTU |
| zh | 丙基硫氧嘧啶胚胎脂肪病 | = en |
| tr | Propiltiourasil embriyofetopati | PTU embriyopatisi · PTU embriyofetopati · Propiltiourasil embriyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q86.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.0Y | NTBT | attributed | validated |
| MONDO | 0044619 | E | validated | |
| UMLS | C5567519 | 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:138059Teratogenic Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:251529Toxic or drug-related embryofetopathy
rare developmental anomalies during embryogenesis; rare disorders due to toxic effects; rare teratologic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET_25974033[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/485358
- This record as JSON: /data/d/485358.json