Isolated encephalocele
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated encephalocele | |
| fr | Encéphalocèle isolée | |
| de | Enzephalozele, isolierte | |
| es | Encefalocele aislado | |
| it | Encefalocele isolato | |
| nl | Geïsoleerde encefalocele | |
| pt | Encefalocelo | |
| pl | Izolowana przepuklina mózgowa | |
| cs | Izolovaná encefalokéla | |
| uk | Ізольоване енцефалоцеле | |
| zh | 孤立性脑膨出 | |
| tr | İzole ensefalosel |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q01.0 | BTNT | specific | validated |
| ICD-10 | Q01.1 | BTNT | specific | validated |
| ICD-10 | Q01.2 | BTNT | specific | validated |
| ICD-10 | Q01.8 | BTNT | specific | validated |
| ICD-10 | Q01.9 | BTNT | specific | validated |
| ICD-11 | LA01 | NTBT | index | validated |
| MONDO | 0016057 | E | validated | |
| MeSH | D004677 | E | validated | |
| UMLS | C5680519 | E | validated | |
| GARD | 6333 | E | validated | |
| MedDRA | 10014617 | 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 (1):
- ORPHA:268817Cephalocele
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| DACT1 | ORPHA:268823Occipital encephalocele | Disease-causing germline mutation(s) in | Assessed | HGNC:17748 | ENSG00000165617 | 607861 | 14q23.1 | dishevelled binding antagonist of beta catenin 1 | 22610794[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199647
- This record as JSON: /data/d/199647.json