Nodular neuronal heterotopia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Age of onset
- All ages
- Status
- active
A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nodular neuronal heterotopia | |
| fr | Hétérotopie neuronale nodulaire | |
| de | Heterotopie, neuronale noduläre | |
| es | Heterotopia neuronal nodular | |
| it | Eterotopia neuronale nodulare | |
| nl | Nodulaire neuronale heterotopie | |
| pt | Heterotopia nodular hereditária | |
| pl | Heterotopia neuronalna typu guzkowego | |
| cs | Nodulární neuronální heterotopie | |
| uk | Вузлова нейронна гетеротопія | |
| zh | 结节状神经元异位 | |
| tr | Nodüler nöronal heterotopi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300049 | BTNT | validated | |
| OMIM | 608097 | BTNT | validated | |
| OMIM | 608098 | BTNT | validated | |
| OMIM | 612881 | BTNT | validated | |
| OMIM | 615544 | BTNT | validated | |
| OMIM | 617201 | BTNT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| ICD-11 | LA05.5Y | NTBT | index | validated |
| MONDO | 0016292 | E | validated | |
| UMLS | C5680679 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:163209Non-syndromic cerebral malformation due to abnormal neuronal migration
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
Genes
0 direct · 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| FLNA | ORPHA:98892Periventricular nodular heterotopia | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3754 | ENSG00000196924 | 300017 | Xq28 | filamin A | 20301392[PMID] |
| MAP1B | ORPHA:98892Periventricular nodular heterotopia | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6836 | ENSG00000131711 | 157129 | 5q13.2 | microtubule associated protein 1B | 29738522[PMID] |
| TMTC3 | ORPHA:98892Periventricular nodular heterotopia | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26899 | ENSG00000139324 | 617218 | 12q21.32 | transmembrane O-mannosyltransferase targeting cadherins 3 | 27773428[PMID]_28973161[PMID] |
| ARF1 | ORPHA:98892Periventricular nodular heterotopia | Disease-causing germline mutation(s) in | Assessed | HGNC:652 | ENSG00000143761 | 103180 | 1q42.13 | ARF GTPase 1 | 28868155[PMID] |
| ARFGEF2 | ORPHA:98892Periventricular nodular heterotopia | Disease-causing germline mutation(s) in | Assessed | HGNC:15853 | ENSG00000124198 | 605371 | 20q13.13 | ARF guanine nucleotide exchange factor 2 | 14647276[PMID]_25160555[PMID] |
| ERMARD | ORPHA:98892Periventricular nodular heterotopia | Disease-causing germline mutation(s) in | Assessed | HGNC:21056 | ENSG00000130023 | 615532 | 6q27 | ER membrane associated RNA degradation | 24056535[PMID] |
| NEDD4L | ORPHA:98892Periventricular nodular heterotopia | Disease-causing germline mutation(s) in | Assessed | HGNC:7728 | ENSG00000049759 | 606384 | 18q21.31 | NEDD4 like E3 ubiquitin protein ligase | 27694961[PMID] |
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.
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0002353 | EEG abnormality | |
| HP:0001250 | Seizure | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2149
- This record as JSON: /data/d/2149.json