ORPHA:63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Synonyms: Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis | Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome |
| fr | Syndrome d'Antley-Bixler avec anomalie génitale et trouble de la stéroïdogenèse | Syndrome d'Antley-Bixler avec ambiguïté génitale-troubles de la stéroïdogenèse |
| de | Antley-Bixler-Syndrom mit Genitalanomalien und Steroidstoffwechselstörung | Antley-Bixler-Syndrom, POR-abhängiges · Intersexuelles Genitale-Störung der Steroidgenesis-Antley-Bixler ähnliches-Syndrom |
| es | Síndrome de Antley-Bixler con anomalías genitales y alteración de la esteroidogénesis | Síndrome de Antley-Bixler-genitales ambiguos-alteración de la esteroidogénesis |
| it | Sindrome di Antley-Bixler con anomalia genitale e difetto della steroidogenesi | Sindrome Antley-Bixler-simile - genitali ambigui - difetto della steroidogenesi |
| nl | Syndroom van Antley-Bixler met genitale anomalie en stoornis van steroïdogenese | Ambigue genitaliën - verstoorde steroïdogenese-Antley-Bixler-achtig syndroom |
| pt | Síndrome Antley-Bixler com anomalia genital e disfunção da esteroidogénese | Síndrome Antley-Bixler - ambiguidade genital - anomalias da esteroidogénese |
| pl | Zespół Antley'a i Bixlera z wadą narządów płciowych i zaburzeniami steroidogenezy | Zespół Antley'a i Bixlera typu 2 · Zespół Antley'a i Bixlera związany z POR · Zespół podobny do zespołu Antley'a i Bixlera-obojnacze narządy płciowe-zaburzenia steroidogenezy |
| cs | Antleyho-Bixlerův syndrom s anomáliemi genitálu a poruchou steroidogeneze | Syndrom podobný Antleyho-Bixlerovu, zahrnující neurčité pohlaví a porušenou steroidogenezi · Antleyho-Bixlerův syndrom, typ 2 · POR-vázaný Antleyho-Bixlerův syndrom · Antley-Bixlerův syndrom s anomáliemi genitálu a poruchou steroidogeneze · Syndrom podobný Antley-Bixlerovu, zahrnující neurčité pohlaví a porušenou steroidogenezi · Antley-Bixlerův syndrom, typ 2 · POR-vázaný Antley-Bixlerův syndrom |
| uk | Синдром Ентлі-Бікслера з аномалією геніталій та порушенням стероїдогенезу | Синдром невизначених геніталій- порушенного стероїдогенезу Ентлі-Бікслера |
| zh | Antley-Bixler综合征伴生殖器异常和类固醇激素紊乱 | POR相关性Antley-Bixler综合征 |
| tr | Genital anomali ve steroidogenez bozukluğu ile seyreden Antley-Bixler sendromu | Belirsiz genitalya bozuk steroidogenez Antley-Bixler benzeri sendrom · Antley-Bixler sendromu tip 2 · Antley-Bixler sendromu, POR ile ilgili |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201750 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | attributed | validated |
| MONDO | 0008726 | E | validated | |
| UMLS | C3150099 | 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 (4):
- ORPHA:9077646,XX difference of sex development induced by fetal androgens excess
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare gynecological and obstetric diseases - ORPHA:9078646,XY difference of sex development due to adrenal and testicular steroidogenesis defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare gynecological and obstetric diseases; rare transplant-related disorders - ORPHA:83Antley-Bixler syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare bone diseases - ORPHA:418Congenital adrenal hyperplasia
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9208 | ENSG00000127948 | 124015 | 7q11.23 | cytochrome p450 oxidoreductase | 15483095[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/63269
- This record as JSON: /data/d/63269.json