Porencephaly
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Porencephaly | |
| fr | Porencéphalie | |
| de | Porenzephalie | |
| es | Porencefalia | |
| it | Porencefalia | |
| nl | Porencefalie | |
| pt | Porencefalia familiar | |
| pl | Porencefalia | |
| cs | Porencefalie | |
| uk | Поренцефалія | |
| zh | 脑穿通畸形 | |
| tr | Porensefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175780 | BTNT | validated | |
| OMIM | 614483 | BTNT | validated | |
| ICD-10 | Q04.6 | NTBT | index | validated |
| ICD-11 | LA05.60 | E | specific | validated |
| MONDO | 0017410 | E | validated | |
| MeSH | D065708 | E | validated | |
| UMLS | C0302892 | E | validated | |
| GARD | 7430 | E | validated | |
| MedDRA | 10036172 | 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 (2):
- ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:269190Encephaloclastic disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
Genes
0 direct · 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| COL4A1 | ORPHA:99810Familial porencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:2202 | ENSG00000187498 | 120130 | 13q34 | collagen type IV alpha 1 chain | |
| COL4A2 | ORPHA:99810Familial porencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:2203 | ENSG00000134871 | 120090 | 13q34 | collagen type IV alpha 2 chain | |
| COLGALT1 | ORPHA:99810Familial porencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:26182 | ENSG00000130309 | 617531 | 19p13.11 | collagen beta(1-O)galactosyltransferase 1 | 30412317[PMID]_33709034[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 5.2 / 100 000 | Japan | Value and class | Validated | 26545857[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.5 / 100 000 | United States | Value and class | Validated | 18383510[PMID] |
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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002132 | Porencephaly | |
| HP:0001257 | Spasticity | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0100021 | Cerebral palsy | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2940
- This record as JSON: /data/d/2940.json