MCID: ANT042
MIFTS: 29

Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis malady

Genetic diseases (common) category

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

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Aliases & Descriptions for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

Name: Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 49 11 24
Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis 67
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 67
 
Cytochrome P450 Oxidoreductase Deficiency 67
Por Deficiency 67
Abs1 67


Classifications:



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OMIM49 201750
MeSH36 D054882

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

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OMIM:49 The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral... (201750) more...

MalaCards based summary: Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis, also known as antley-bixler syndrome, with genital anomalies and disordered steroidogenesis, is related to cytochrome p450 oxidoreductase deficiency and disordered steroidogenesis due to cytochrome p450 oxidoreductase, and has symptoms including autosomal recessive inheritance, cryptorchidism and chordee. An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (P450 (Cytochrome) Oxidoreductase). Affiliated tissues include placenta, ovary and kidney.

UniProtKB/Swiss-Prot:67 Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures.

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

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Diseases related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cytochrome p450 oxidoreductase deficiency11.0
2disordered steroidogenesis due to cytochrome p450 oxidoreductase10.8
3aromatase deficiency10.4
4antley-bixler syndrome10.4
5congenital adrenal hyperplasia10.2
6bartter syndrome, type 110.1

Graphical network of diseases related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:



Diseases related to antley-bixler syndrome with genital anomalies and disordered steroidogenesis

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

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Symptoms by clinical synopsis from OMIM:

201750

Clinical features from OMIM:

201750

HPO human phenotypes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

(show all 50)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cryptorchidism HP:0000028
3 chordee HP:0000041
4 scrotal hypoplasia HP:0000046
5 hypospadias HP:0000047
6 bifid scrotum HP:0000048
7 micropenis HP:0000054
8 clitoromegaly HP:0000057
9 ambiguous genitalia HP:0000062
10 labial hypoplasia HP:0000066
11 horseshoe kidney HP:0000085
12 polycystic ovaries HP:0000147
13 brachycephaly HP:0000248
14 microcephaly HP:0000252
15 malar flattening HP:0000272
16 hypertelorism HP:0000316
17 abnormality of the pinna HP:0000377
18 conductive hearing impairment HP:0000405
19 choanal stenosis HP:0000452
20 choanal atresia HP:0000453
21 proptosis HP:0000520
22 abnormality of the endocrine system HP:0000818
23 arachnodactyly HP:0001166
24 abnormalities of placenta or umbilical cord HP:0001194
25 craniosynostosis HP:0001363
26 abnormality of the abdomen HP:0001438
27 small for gestational age HP:0001518
28 oligohydramnios HP:0001562
29 vesicovaginal fistula HP:0001586
30 laryngomalacia HP:0001601
31 rocker bottom foot HP:0001838
32 abnormality of metabolism/homeostasis HP:0001939
33 frontal bossing HP:0002007
34 arnold-chiari malformation HP:0002308
35 scoliosis HP:0002650
36 cloverleaf skull HP:0002676
37 bronchomalacia HP:0002780
38 hemivertebrae HP:0002937
39 radioulnar synostosis HP:0002974
40 femoral bowing HP:0002980
41 ulnar bowing HP:0003031
42 humeroradial synostosis HP:0003041
43 depressed nasal bridge HP:0005280
44 maternal virilization in pregnancy HP:0008072
45 low maternal serum estriol HP:0008073
46 tarsal synostosis HP:0008368
47 joint contracture of the hand HP:0009473
48 carpal synostosis HP:0009702
49 hypoplasia of midface HP:0011800
50 camptodactyly HP:0012385

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

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Interventional clinical trials:

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

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

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Genetic tests related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

id Genetic test Affiliating Genes
1 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis24

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

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MalaCards organs/tissues related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

33
Placenta, Ovary, Kidney

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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UniProtKB/Swiss-Prot genetic disease variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

67
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:

5
id Gene Variation 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.731+1G> Asingle nucleotide variantPathogenicrs786205099GRCh37Chr 7, 75610925: 75610925
4PORNM_000941.2(POR): c.1370G> A (p.Arg457His)single nucleotide variantPathogenicrs28931608GRCh37Chr 7, 75614497: 75614497
5PORNM_000941.2(POR): c.1329dupC (p.Ile444Hisfs)duplicationPathogenicrs786205875GRCh37Chr 7, 75614456: 75614456
6PORNM_000941.2(POR): c.1733A> G (p.Tyr578Cys)single nucleotide variantPathogenicrs121912975GRCh37Chr 7, 75615304: 75615304
7PORNM_000941.2(POR): c.1835_1858del24 (p.Leu612_Trp620delinsArg)deletionPathogenicrs786205876GRCh37Chr 7, 75615496: 75615519
8PORNM_000941.2(POR): c.15A> G (p.Gly5=)single nucleotide variantPathogenicrs10262966GRCh37Chr 7, 75583325: 75583325
9PORNM_000941.2(POR): c.568_580dupTACGTGGACAAGC (p.Arg194Leufs)duplicationPathogenicrs786205878GRCh37Chr 7, 75610417: 75610429
10PORNM_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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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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GO Terms 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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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet