Renal caliceal diverticuli-deafness syndrome
historical
Synonyms: Renal caliceal diverticuli-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal caliceal diverticuli-deafness syndrome | Renal caliceal diverticuli-hearing loss syndrome |
| fr | Syndrome de dysmorphie rénale pelvi-calicielle-surdité | |
| de | Nierenkelchdivertikel - Taubheit | |
| es | Síndrome de diverticulitis calicial renal-sordera | Síndrome de diverticulitis calicial renal-hipoacusia |
| it | Sindrome da diverticoli dei calici renali e sordità | |
| nl | Nierkelkdivertikel - doofheid-syndroom | |
| pt | Síndrome de divertículos renais caliciais-surdez | Síndrome de divertículos renais caliciais-perda auditiva |
| pl | Zespół uchyłków kielicha nerkowego i głuchoty | = en |
| cs | Syndrom zahrnující divertikly renálních kalichů a hluchotu | = en |
| uk | Синдром ниркових чашечкових дивертикулів-глухоти | Синдром дивертикули ниркових чашечок - втрати слуху |
| zh | 肾盏憩室炎-耳聋综合征 | 肾盏憩室-听力丧失综合征 |
| tr | Renal kaliseal divertikül-sağırlık sendromu | Renal kaliks divertikülü-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q64.8 | NTBT | attributed | validated |
| MONDO | 0017281 | E | validated | |
| UMLS | C5190738 | E | validated | |
| GARD | 4655 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 6785452[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6785452[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
6 annotations · validated 2017-09-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2838
- This record as JSON: /data/d/2838.json