ORPHA:1239
Behr syndrome
Synonyms: Behr complicated familial optic atrophy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Behr syndrome | Behr complicated familial optic atrophy |
| fr | Syndrome de Behr | Atrophie optique compliquée de Behr |
| de | Behr-Syndrom | Komplizierte hereditäre infantile Optikusatrophie |
| es | Síndrome de Behr | Atrofia óptica familiar complicada de Behr |
| it | Sindrome di Behr | Atrofia ottica familiare complicata di Behr |
| nl | Syndroom van Behr | Behr-gecompliceerde familiale opticusatrofie |
| pt | Síndrome Behr | |
| pl | Zespół Behra | = en |
| cs | Behrův syndrom | = en |
| uk | Синдром Бера | |
| zh | 弃用：贝尔综合征 | |
| tr | Eski adı: Behr sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210000 | E | validated | |
| ICD-10 | H47.2 | NTBT | attributed | validated |
| MONDO | 0008858 | E | validated | |
| MONDO | 8858 | E | validated | |
| UMLS | C0221061 | 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 (5):
- 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:207025Rare hereditary neurologic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OPA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8140 | ENSG00000198836 | 605290 | 3q29 | OPA1 mitochondrial dynamin like GTPase | 35741767[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/1239
- This record as JSON: /data/d/1239.json