ORPHA:99796
Subcortical band heterotopia
Synonyms: Subcortical laminar heterotopia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive, Unknown, X-linked recessive
- Status
- active
A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Subcortical band heterotopia | Subcortical laminar heterotopia |
| fr | Hétérotopie sous-corticale en bandes | Hétérotopie laminaire sous-corticale |
| de | Bandheterotopie, subkortikale | Subkortikale laminare Heterotopie (SCLH) |
| es | Heterotopia subcortical en banda | Heterotopia subcortical laminar |
| it | Eterotopia a banda sottocorticale | Eterotopia laminare sottocorticale |
| nl | Subcorticale bandheterotopie | Subcorticale laminaire heterotopie |
| pt | Heterotopia subcortical em banda | |
| pl | Podkorowa heterotopia linijna | Podkorowa heterotopia warstwowa |
| cs | Subkortikální pruhovitá heterotopie | Subkortikální laminární heterotopie |
| uk | Підкіркова смугова гетеротопія | Підкіркова ламінарна гетеротопія |
| zh | 皮层下带状灰质异位症 | 皮质下板层异位 |
| tr | Subkortikal bant heterotopisi | Subkortikal laminer heterotopya |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300067 | NTBT | validated | |
| OMIM | 600348 | BTNT | validated | |
| OMIM | 607432 | NTBT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0020491 | E | validated | |
| UMLS | C1848201 | E | validated | |
| GARD | 1904 | 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:163209Non-syndromic cerebral malformation due to abnormal neuronal migration
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCX | Disease-causing germline mutation(s) in | Assessed | HGNC:2714 | ENSG00000077279 | 300121 | Xq23 | doublecortin | |
| EML1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3330 | ENSG00000066629 | 602033 | 14q32.2 | EMAP like 1 | 24859200[PMID] |
| PAFAH1B1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:8574 | ENSG00000007168 | 601545 | 17p13.3 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 20301752[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/99796
- This record as JSON: /data/d/99796.json