MCID: ANT042

Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis malady

Genetic diseases (common) category

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

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48OMIM, 34MalaCards
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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:48 201750

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

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

antley-bixler syndrome with genital anomalies and disordered steroidogenesis 48


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

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

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48OMIM
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Symptoms by clinical synopsis from OMIM:

201750

Clinical features from OMIM:

201750

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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

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

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

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

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

65
id Symbol AA change Variation ID SNP ID
1PORp.Ala284ProVAR_021155
2PORp.Arg454HisVAR_021156
3PORp.Val489GluVAR_021157
4PORp.Tyr575CysVAR_021159

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

1
id Gene Name Type Significance SNP ID Assembly Location
1PORNM_000941.2(POR): c.1475T> A (p.Val492Glu)single nucleotide variantPathogenicrs28931606GRCh37Chr 7, 75614973: 75614973
2PORNM_000941.2(POR): c.859G> C (p.Ala287Pro)single nucleotide variantPathogenicrs121912974GRCh37Chr 7, 75612866: 75612866
3PORNM_000941.2(POR): c.1370G> A (p.Arg457His)single nucleotide variantPathogenicrs28931608GRCh37Chr 7, 75614497: 75614497
4PORNM_000941.2(POR): c.1733A> G (p.Tyr578Cys)single nucleotide variantPathogenicrs121912975GRCh37Chr 7, 75615304: 75615304
5PORNM_000941.2(POR): c.1615G> A (p.Gly539Arg)single nucleotide variantPathogenicrs121912976GRCh37Chr 7, 75615113: 75615113

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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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...

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

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

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

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet