ORPHA:481986
Familial schizencephaly
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial schizencephaly | |
| fr | Schizencéphalie familiale | |
| de | Schizenzephalie, familiäre | |
| es | Esquizencefalia familiar | |
| it | Schizencefalia ereditaria | |
| nl | Familiale schizencefalie | |
| pt | Esquizencefalia familiar | |
| pl | Schizencefalia rodzinna | |
| cs | Familiární schizencefalie | |
| uk | Сімейна шизенцефалія | |
| zh | 家族性脑裂 | |
| tr | Ailesel şizensefali |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269160 | NTBT | validated | |
| ICD-10 | Q04.6 | NTBT | attributed | validated |
| ICD-11 | LA05.61 | NTBT | attributed | validated |
| MONDO | 0018829 | E | validated | |
| MeSH | C538514 | E | validated | |
| UMLS | C2931870 | 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:799Schizencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
4
Genes
1 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 | 23225343[PMID]_25500781[PMID]_26576802[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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/481986
- This record as JSON: /data/d/481986.json