Hydrocephalus-blue sclerae-nephropathy syndrome
historical
Synonyms: Daentl-Townsend-Siegel syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- No data available
- Status
- historical
A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydrocephalus-blue sclerae-nephropathy syndrome | Daentl-Townsend-Siegel syndrome |
| fr | Syndrome d'hydrocéphalie-sclérotiques bleues-néphropathie | Syndrome de Daentl-Townsend-Siegel |
| de | Hydrozephalus-blaue Sklera-Nephropathie-Syndrom | Daentl-Townsend-Siegel-Syndrom |
| es | Síndrome de hidrocefalia-escleróticas azules-nefropatía | Síndrome de Daentl-Townsend-Siegel |
| it | Sindrome idrocefalo, sclere blu e nefropatia | Sindrome di Daentl-Townsend-Siegel |
| nl | Hydrocefalus - blauwe sclerae - nefropathie-syndroom | Syndroom van Daentl-Townsend-Siegel |
| pt | Síndrome de hidrocefalia-escleróticas azuis-nefropatia | Síndrome Daentl-Townsend-Siegel |
| pl | Wodogłowie - niebieska twardówka - nefropatia | Zespół Daentla, Townsenda i Siegela |
| cs | Syndrom zahrnující hydrocefalus, modré skléry a nefropatii | Daentlův-Townsendův-Siegelův syndrom · Daentl-Townsend-Siegelův syndrom |
| uk | Синдром гідроцефалії-блакитних склер-нефропатії | Синдром Дантля-Таунсенда-Зігеля |
| zh | 脑积水-蓝巩膜-肾病综合征 | Daentl-Townsend-Siegel综合征 |
| tr | Hidrosefali-mavi sklera-nefropati sendromu | Daentl-Townsend-Siegel sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0016350 | E | validated | |
| UMLS | C4750751 | E | validated | |
| GARD | 236 | 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:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; 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 | 1 families | Worldwide | Family(ies) | Validated | 728573[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_728573[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/2186
- This record as JSON: /data/d/2186.json