ORPHA:3326
Thymic-renal-anal-lung dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thymic-renal-anal-lung dysplasia | |
| fr | Dysplasie thymus-rein-anus-poumon | |
| de | Thymus-Nieren-Anus-Lungendysplasie | |
| es | Displasia de timo-riñón-ano-pulmón | |
| it | Displasia timo-rene-ano-polmone | |
| nl | Dysplasie van thymus-nier-anus-long | |
| pt | Displasia timo-reno-ano-pulmonar | |
| pl | Dysplazja grasiczo-nerkowo-odbytowo-płucna | |
| cs | Thymická-renální-anální-plicní dysplázie | |
| uk | Тимусово-нирково-анально-легенева дисплазія | |
| zh | 胸腺-肾-肛-肺发育不良 | |
| tr | Timik-renal-anal-akciğer displazisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 274265 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010129 | E | validated | |
| MeSH | C536907 | E | validated | |
| UMLS | C1848812 | E | validated | |
| GARD | 5202 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- 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 - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 2260572[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2260572[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3326
- This record as JSON: /data/d/3326.json