ORPHA:269505
Congenital communicating hydrocephalus
Synonyms: Congenital non-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 communicating hydrocephalus | Congenital non-obstructive hydrocephalus |
| fr | Hydrocéphalie congénitale communicante | Hydrocéphalie congénitale non obstructive |
| de | Hydrozephalus, kommunizierender, kongenitaler | Hydrozephalus, nichtobstruktiver, kongenitaler |
| es | Hidrocefalia comunicante congénita | Hidrocefalia no obstructiva congénita |
| it | Idrocefalo comunicante congenito | Idrocefalo non ostruttivo congenito |
| nl | Congenitale communicerende hydrocefalus | Congenitale niet-obstructieve hydrocefalus |
| pt | Hidrocefalia comunicante congénita | Hidrocefalia não-obstrutiva congénita |
| pl | Wrodzone wodogłowie komunikujące | Wrodzone wodogłowie nieobstrukcyjne |
| cs | Vrozený komunikující hydrocefalus | Vrozený neobstrukční hydrocefalus |
| uk | Вроджена комунікуюча гідроцефалія | Вроджена необструктивна гідроцефалія |
| zh | 先天性交通性脑积水 | 先天性非梗阻性脑积水 |
| tr | Doğumsal komunikan hidrosefali | Doğumsal obstrüktif olmayan hidrosefali |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615219 | NTBT | validated | |
| ICD-10 | Q03.8 | NTBT | attributed | validated |
| MONDO | 0017116 | E | validated | |
| UMLS | C5679774 | 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
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MPDZ | Disease-causing germline mutation(s) in | Assessed | HGNC:7208 | ENSG00000107186 | 603785 | 9p23 | multiple PDZ domain crumbs cell polarity complex component | 23240096[PMID] |
| TRIM71 | Disease-causing germline mutation(s) in | Assessed | HGNC:32669 | ENSG00000206557 | 618570 | 3p22.3 | tripartite motif containing 71 | 29983323[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/269505
- This record as JSON: /data/d/269505.json