ORPHA:99810
Familial porencephaly
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Porencephaly
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial porencephaly | |
| fr | Porencéphalie familiale | |
| de | Porenzephalie, familiäre | |
| es | Porencefalia familiar | |
| it | Porencefalia familiare | |
| nl | Familiale porencefalie | |
| pt | Porencefalia, familiar | |
| pl | Rodzinna porencefalia | |
| cs | Familiární porencefalie | |
| uk | Сімейна поренцефалія | |
| zh | 家族性脑穿通畸形 | |
| tr | Ailesel porensefali |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175780 | BTNT | validated | |
| OMIM | 614483 | BTNT | validated | |
| OMIM | 618360 | BTNT | validated | |
| ICD-10 | Q04.6 | NTBT | inclusion | validated |
| ICD-11 | LA05.60 | NTBT | index | validated |
| MONDO | 0020496 | E | validated | |
| MeSH | C536850 | E | validated | |
| UMLS | C1867983 | E | validated | |
| GARD | 2258 | 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 (2):
- ORPHA:477765COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
rare genetic diseases; rare neurological diseases - ORPHA:2940Porencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL4A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2202 | ENSG00000187498 | 120130 | 13q34 | collagen type IV alpha 1 chain | |
| COL4A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2203 | ENSG00000134871 | 120090 | 13q34 | collagen type IV alpha 2 chain | |
| COLGALT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26182 | ENSG00000130309 | 617531 | 19p13.11 | collagen beta(1-O)galactosyltransferase 1 | 30412317[PMID]_33709034[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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.
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/99810
- This record as JSON: /data/d/99810.json