Periventricular nodular heterotopia
Synonyms: PVNH
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Age of onset
- Childhood
- Status
- active
Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Periventricular nodular heterotopia | PVNH |
| fr | Hétérotopie nodulaire périventriculaire | |
| de | Heterotopie, noduläre periventrikuläre | = en |
| es | Heterotopia nodular periventricular | |
| it | Eterotopia nodulare periventricolare | |
| nl | Periventriculaire nodulaire heterotopie | = en |
| pt | Heterotopia nodular periventricular | |
| pl | Heterotopia guzkowa okołokomorowa | = en |
| cs | Periventrikulární nodulární heterotopie | = en |
| uk | Перивентрикулярна вузловата гетеротопія | = en |
| zh | 脑室周围结节性异位症 | = en |
| tr | Periventriküler nodüler heterotopi | = en |
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 | |
| OMIM | 617255 | NTBT | validated | |
| OMIM | 618185 | BTNT | validated | |
| OMIM | 618918 | BTNT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| ICD-11 | LA05.5Y | NTBT | index | validated |
| MONDO | 0020341 | E | validated | |
| MeSH | D054091 | E | validated | |
| UMLS | C1868720 | E | validated | |
| GARD | 12724 | E | validated | |
| MedDRA | 10066854 | 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:2149Nodular neuronal heterotopia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:82004Ehlers-Danlos syndrome with periventricular heterotopia moved to · inactive
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLNA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3754 | ENSG00000196924 | 300017 | Xq28 | filamin A | 20301392[PMID] |
| MAP1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6836 | ENSG00000131711 | 157129 | 5q13.2 | microtubule associated protein 1B | 29738522[PMID] |
| TMTC3 | 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 | Disease-causing germline mutation(s) in | Assessed | HGNC:652 | ENSG00000143761 | 103180 | 1q42.13 | ARF GTPase 1 | 28868155[PMID] |
| ARFGEF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15853 | ENSG00000124198 | 605371 | 20q13.13 | ARF guanine nucleotide exchange factor 2 | 14647276[PMID]_25160555[PMID] |
| ERMARD | Disease-causing germline mutation(s) in | Assessed | HGNC:21056 | ENSG00000130023 | 615532 | 6q27 | ER membrane associated RNA degradation | 24056535[PMID] |
| NEDD4L | 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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0100790 | Hernia | |
| HP:0002021 | Pyloric stenosis | |
| HP:0002650 | Scoliosis | |
| Frequent (79-30%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0012639 | Abnormal nervous system morphology | |
| HP:0001659 | Aortic regurgitation | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001382 | Joint hypermobility | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0007165 | Periventricular heterotopia | |
| HP:0000963 | Thin skin | |
| Occasional (29-5%) | ||
| HP:0004942 | Aortic aneurysm | |
| HP:0002999 | Patellar dislocation | |
| HP:0003834 | Shoulder dislocation | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 15668422[PMID]_30089473[PMID]_29449050[PMID]_28306229[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98892
- This record as JSON: /data/d/98892.json