ORPHA:563612
Isolated exencephaly
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Antenatal
- Status
- active
This disease is described under Isolated anencephaly/exencephaly
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated exencephaly | |
| fr | Exencéphalie isolée | |
| de | Exenzephalie, isolierte | |
| es | Exencefalia aislada | |
| it | Esencefalia isolata | |
| nl | Geïsoleerde exencefalie | |
| pt | Exencefalia isolada | |
| pl | Izolowana egzencefalia | |
| cs | Izolovaná exencefalie | |
| uk | Ізольована ексенцефалія | |
| zh | 孤立性露脑畸形 | |
| tr | İzole eksensefali |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q00.0 | NTBT | attributed | not yet validated |
| ICD-11 | LA00.0Y | NTBT | index | validated |
| MONDO | 0035402 | E | validated | |
| UMLS | C0266453 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1048Isolated anencephaly/exencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTHFR | Major susceptibility factor in | Assessed | HGNC:7436 | ENSG00000177000 | 607093 | 1p36.22 | methylenetetrahydrofolate reductase | 31516628[PMID] |
| VANGL2 | Major susceptibility factor in | Assessed | HGNC:15511 | ENSG00000162738 | 600533 | 1q23.2 | VANGL planar cell polarity protein 2 | 31516628[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
16 annotations · validated 2020-09-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0002683 | Abnormality of the calvaria | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0001360 | Holoprosencephaly | |
| HP:0005466 | Hypoplasia of the frontal bone | |
| HP:0001561 | Polyhydramnios | |
| HP:0000520 | Proptosis | |
| Occasional (29-5%) | ||
| HP:0011821 | Abnormality of facial skeleton | |
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000369 | Low-set ears | |
| HP:0009800 | Maternal diabetes | |
| HP:0030244 | Maternal fever in pregnancy | |
| HP:0011756 | Posterior pituitary agenesis | |
Annotation source: 22902849[PMID]_25551113[PMID]_30421543[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/563612
- This record as JSON: /data/d/563612.json