ORPHA:269001
Isolated focal cortical dysplasia type IIa
Synonyms: FCD type IIa
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated focal cortical dysplasia type IIa | FCD type IIa |
| fr | Dysplasie corticale focale isolée type IIa | = en |
| de | Kortikale Dysplasie, fokale isolierte, Typ IIa | FCD Typ IIa |
| es | Displasia cortical focal aislada tipo IIa | FCD tipo IIa |
| it | Displasia corticale focale isolata, tipo IIa | FCD, tipo IIa |
| nl | Geïsoleerde focale corticale dysplasie type IIa | = en |
| pt | Displasia cortical focal isolada tipo IIa | FCD tipo IIa |
| pl | Izolowana dysplazja korowa mózgu typu IIa | FCD typu IIa |
| cs | Izolovaná fokální kortikální dysplázie, typ IIa | FCD typ IIa |
| uk | Ізольована фокальна кортикальна дисплазія, тип IIa | FCD типу IIa |
| zh | 孤立性局灶性脑皮质发育不良IIa型 | FCD IIa型 |
| tr | İzole fokal kortikal displazi tip IIa | FCD tip IIa |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607341 | NTBT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| ICD-11 | LA05.51 | NTBT | index | validated |
| MONDO | 0017101 | E | validated | |
| UMLS | C5679770 | 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:268994Isolated focal cortical dysplasia type II
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 |
|---|---|---|---|---|---|---|---|---|
| MTOR | Disease-causing somatic mutation(s) in | Assessed | HGNC:3942 | ENSG00000198793 | 601231 | 1p36.22 | mechanistic target of rapamycin kinase | 25799227[PMID] |
| TSC2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:12363 | ENSG00000103197 | 191092 | 16p13.3 | TSC complex subunit 2 | 28215400[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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/269001
- This record as JSON: /data/d/269001.json