ORPHA:2091
Multinodular goiter-cystic kidney-polydactyly syndrome
Synonyms: Daneman-Davy-Mancer syndrome · Thyroid-renal-digital anomalies
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multinodular goiter-cystic kidney-polydactyly syndrome | Daneman-Davy-Mancer syndrome · Thyroid-renal-digital anomalies |
| fr | Syndrome de goitre multinodulaire-rein kystique-polydactylie | Anomalies thyroïde-rein-doigts · Syndrome de Daneman-Davy-Mancer |
| de | Struma, mehrknotig - Nierenzysten - Polydaktylie | Daneman-Davy-Mancer-Syndrom · Anomalien der Schilddrüse, Nieren und Finger |
| es | Síndrome de bocio multinodular-riñón quístico-polidactilia | Síndrome de Daneman-Davy-Mancer |
| it | Gozzo multinodulare - rene cistico - polidattilia | Anomalie tiroide-rene-dita · Sindrome di Daneman-Davy-Mancer |
| nl | Multinodulair struma - cystische nier - polydactylie-syndroom | Syndroom van Daneman-Davy-Mancer · Thyroïdale-renale-digitale anomalieën |
| pt | Síndrome de bócio multinodular-rim quístico-polidactilia | Anomalias tiroido-nefro-digitais · Síndrome Daneman-Davy-Mancer |
| pl | Wole wieloguzkowe - torbiel nerki - polidaktylia | Wady tarczycy, nerek i palców · Zespół Danemana, Davy'ego i Mancera |
| cs | Syndrom zahrnující multinodulární strumu, cystickou ledvinu a polydaktylii | Tyreorenodigitální anomálie · Danemanův-Davyho-Mancerův syndrom · Daneman-Davy-Mancerův syndrom |
| uk | Синдром багатовузлового зобу-кістозу нирок-полідактилії | Синдром Данемана-Дейві-Мансера · Тиреоїдно-нирково-пальцеві аномалії |
| zh | 多结节甲状腺肿-囊性肾-多指(趾)畸形综合征 | 甲状腺-肾-指(趾)异常 |
| tr | Multinodüler guatr-kistik böbrek-polidaktili sendrom | Daneman-Davy-Mancer sendromu · Tiroid-renal-dijital anomaliler |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 138790 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007680 | E | validated | |
| MeSH | C535986 | E | validated | |
| UMLS | C1841853 | E | validated | |
| GARD | 1671 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 4020555[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4020555[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.
6
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0005987 | Multinodular goiter | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0001841 | Preaxial foot polydactyly | |
| HP:0001199 | Triphalangeal thumb | |
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2091
- This record as JSON: /data/d/2091.json