ORPHA:596008
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis | |
| fr | Syndrome d'Antley-Bixler sans anomalie génitale et trouble de la stéroïdogenèse | |
| de | Antley-Bixler-Syndrom ohne Genialanomalien und Steroidstoffwechselstörung | |
| es | Síndrome de Antley-Bixler sin anomalías genitales o trastorno de la esteroidogénesis | |
| it | Sindrome di Antley-Bixler senza anomalie genitali o disturbi della steroidogenesi | |
| nl | Syndroom van Antley-Bixler zonder genitale anomalie of stoornis van steroïdogenese | |
| pt | Síndrome Antley-Bixler sem anomalias genitais ou distúrbio da génese dos esteróides | |
| pl | Zespół Antleya i Bixlera bez wad narządów płciowych zewnętrznych lub bez zaburzeń steroidogenezy | |
| cs | Antley-Bixlerův syndrom bez genitální anomálie nebo poruchy steroidogeneze | |
| uk | Синдром Ентлі-Бікслера без генітальної аномалії або порушення стероїдогенезу | |
| zh | Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis | |
| tr | Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 207410 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | attributed | validated |
| MONDO | 0020667 | E | validated | |
| UMLS | C2936791 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:83Antley-Bixler syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 20301592[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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/596008
- This record as JSON: /data/d/596008.json