ORPHA:268823
Occipital encephalocele
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- 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 | Occipital encephalocele | |
| fr | Encéphalocèle occipitale | |
| de | Enzephalozele, okzipitale | |
| es | Encefalocele occipital | |
| it | Encefalocele occipitale | |
| nl | Occipitale encefalocele | |
| pt | Encefalocelo occipital | |
| pl | Przepuklina mózgowa potyliczna | |
| cs | Okcipitální encefalokéla | |
| uk | Потилична енцефалоцеле | |
| zh | 枕部脑膨出 | |
| tr | Oksipital ensefalosel |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q01.2 | E | specific | validated |
| ICD-11 | LA01 | NTBT | index | validated |
| MONDO | 0017080 | E | validated | |
| UMLS | C0014067 | 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:199647Isolated encephalocele
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DACT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17748 | ENSG00000165617 | 607861 | 14q23.1 | dishevelled binding antagonist of beta catenin 1 | 22610794[PMID] |
5
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.
6
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/268823
- This record as JSON: /data/d/268823.json