Occipital pachygyria and polymicrogyria
Synonyms: Occipital MCD · Occipital malformations of cortical development
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Occipital pachygyria and polymicrogyria | Occipital MCD · Occipital malformations of cortical development |
| fr | Pachygyrie et polymicrogyrie occipitales | MCD occipital · Malformation occipitale du développement cortical |
| de | Okzipitale Pachygyrie und Polymikrogyrie | MCD, okzipitale · Okzipitale Fehlbildungen der kortikalen Entwicklung |
| es | Polimicrogiria y paquigiria occipital | MCD occipital · Malformaciones occipitales del desarrollo cortical |
| it | Pachigiria e polimicrogiria occipitali | MCD occipitale · Malformazioni occipitali dello sviluppo corticale |
| nl | Occipitale pachygyrie en polymicrogyrie | Occipitale MCD · Occipitale malformaties van corticale ontwikkeling |
| pt | Paquigiria occipital e polimicrogiria | MCD occipital · Malformações occipitais do desenvolvimento cortical |
| pl | Szerokozakrętowość i drobnozakrętowość potyliczna | Occipital malformations of cortical development · Potyliczne MCD |
| cs | Okcipitální pachygyrie a polymikrogyrie | Okcipitální MCD · Okcipitální malformace kortikálního vývoje |
| uk | Потилична пахігірія та полімікрогірія | Потиличні вади розвитку кори головного мозку · Потиличний MCD |
| zh | 枕叶巨脑回与多小脑回 | 枕叶皮质发育畸形 |
| tr | Oksipital pakigiri ve polimikrogri | Oksipital MCD · Kortikal gelişimin oksipital malformasyonları |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614115 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0013583 | E | validated | |
| UMLS | C5190688 | 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:163209Non-syndromic cerebral malformation due to abnormal neuronal migration
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LAMC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6494 | ENSG00000050555 | 604349 | 9q34.12 | laminin subunit gamma 3 | 21572413[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 21572413[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280640
- This record as JSON: /data/d/280640.json