ORPHA:269510
Congenital non-communicating hydrocephalus
Synonyms: Congenital obstructive hydrocephalus
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital non-communicating hydrocephalus | Congenital obstructive hydrocephalus |
| fr | Hydrocéphalie congénitale non communicante | Hydrocéphalie congénitale obstructive |
| de | Hydrozephalus, nicht-kommunizierender, kongenitaler | Hydrozephalus, obstruktiver, kongenitaler |
| es | Hidrocefalia no comunicante congénita | Hidrocefalia obstructiva congénita |
| it | Idrocefalo non comunicante congenito | Idrocefalo ostruttivo congenito |
| nl | Congenitale niet-communicerende hydrocefalus | Congenitale obstructieve hydrocefalus |
| pt | Hidrocefalia não-comunicante congénita | Hidrocefalia obstrutiva congénita |
| pl | Wrodzone wodogłowie niekomunikujące | Wrodzone wodogłowie obstrukcyjne |
| cs | Vrozený nekomunikující hydrocefalus | Vrozený obstrukční hydrocefalus |
| uk | Вроджена некомунікуюча гідроцефалія | Вроджена обструктивна гідроцефалія |
| zh | 先天性非交通性脑积水 | 先天性梗阻性脑积水 |
| tr | Doğumsal nonkomunikan hidrosefali | Doğumsal obstrüktif hidrosefali |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236600 | E | validated | |
| ICD-10 | Q03.1 | BTNT | specific | validated |
| ICD-10 | Q03.8 | BTNT | specific | validated |
| ICD-11 | 8D64.1 | E | specific | validated |
| MONDO | 0017117 | E | validated | |
| UMLS | C4546092 | 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 (1):
- ORPHA:2185Congenital hydrocephalus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCDC88C | Disease-causing germline mutation(s) in | Assessed | HGNC:19967 | ENSG00000015133 | 611204 | 14q32.11-q32.12 | coiled-coil and HOOK domain protein 88C | 21031079[PMID]_23042809[PMID] |
| WDR81 | Disease-causing germline mutation(s) in | Assessed | HGNC:26600 | ENSG00000167716 | 614218 | 17p13.3 | WD repeat domain 81 | 28556411[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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/269510
- This record as JSON: /data/d/269510.json