MCID: ANT042

Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis malady

Summaries for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (P450 (cytochrome) oxidoreductase).

Description from OMIM:47 201750

Aliases & Classifications for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Sources:
47OMIM
See all sources

Aliases & Descriptions:

antley-bixler syndrome with genital anomalies and disordered steroidogenesis 47


Related Diseases for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Diseases in the antley-bixler syndrome without genital anomalies or disordered steroidogenesis family:

antley-bixler syndrome antley-bixler syndrome with genital anomalies and disordered steroidogenesis

Clinical Features for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Sources:
47OMIM
See all sources

Clinical features from OMIM:

201750

Clinical synopsis from OMIM:

201750

Drugs & Therapeutics for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

Drug clinical trials:

Search ClinicalTrials for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

Search NIH Clinical Center for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

Search CenterWatch for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

Genetic Tests for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Anatomical Context for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Animal Models for Antley-Bixler Syndrome with Genital Anomalies and Disordered... or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Genetic Variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

63
id Symbol AA change Variation SNP ID
1PORp.Ala284ProVAR_021155
2PORp.Arg454HisVAR_021156
3PORp.Val489GluVAR_021157
4PORp.Tyr575CysVAR_021159

Expression for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

Search GEO for disease gene expression data for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis.

Pathways for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Compounds for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

GO Terms for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Products for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet