MCID: ANT042
MIFTS: 32

Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis malady

Category: Genetic diseases (common)

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 52 12 68
Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis 70 27
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 70
Antley-Bixler Syndrome with Disordered Steroidogenesis 68
 
Cytochrome P450 Oxidoreductase Deficiency 70
Por Deficiency 70
Abs1 70

Characteristics:

HPO:

64
antley-bixler syndrome with genital anomalies and disordered steroidogenesis:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 201750
MeSH39 D054882

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

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OMIM:52 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 disordered steroidogenesis due to cytochrome p450 oxidoreductase and cytochrome p450 oxidoreductase deficiency, and has symptoms including cryptorchidism, chordee and scrotal hypoplasia. An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (Cytochrome P450 Oxidoreductase). Affiliated tissues include placenta, ovary and kidney.

UniProtKB/Swiss-Prot:70 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
1disordered steroidogenesis due to cytochrome p450 oxidoreductase31.0MIR4651, POR
2cytochrome p450 oxidoreductase deficiency11.5
3bartter syndrome, type 111.5
4dfna2 nonsyndromic hearing loss9.5MIR4651, POR
5cerebral cavernous malformations-19.3MIR4651, POR

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 & Phenotypes 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

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

 64 (show all 49)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 chordee64 HP:0000041
3 scrotal hypoplasia64 HP:0000046
4 hypospadias64 HP:0000047
5 bifid scrotum64 HP:0000048
6 micropenis64 HP:0000054
7 clitoral hypertrophy64 HP:0000057
8 ambiguous genitalia64 HP:0000062
9 labial hypoplasia64 HP:0000066
10 horseshoe kidney64 HP:0000085
11 polycystic ovaries64 HP:0000147
12 brachycephaly64 HP:0000248
13 microcephaly64 HP:0000252
14 malar flattening64 HP:0000272
15 hypertelorism64 HP:0000316
16 abnormality of the pinna64 HP:0000377
17 conductive hearing impairment64 HP:0000405
18 choanal stenosis64 HP:0000452
19 choanal atresia64 HP:0000453
20 proptosis64 HP:0000520
21 abnormality of the endocrine system64 HP:0000818
22 arachnodactyly64 HP:0001166
23 abnormalities of placenta or umbilical cord64 HP:0001194
24 craniosynostosis64 HP:0001363
25 abnormality of the abdomen64 HP:0001438
26 small for gestational age64 HP:0001518
27 oligohydramnios64 HP:0001562
28 vesicovaginal fistula64 HP:0001586
29 laryngomalacia64 HP:0001601
30 rocker bottom foot64 HP:0001838
31 abnormality of metabolism/homeostasis64 HP:0001939
32 frontal bossing64 HP:0002007
33 arnold-chiari malformation64 HP:0002308
34 scoliosis64 HP:0002650
35 cloverleaf skull64 HP:0002676
36 bronchomalacia64 HP:0002780
37 hemivertebrae64 HP:0002937
38 radioulnar synostosis64 HP:0002974
39 femoral bowing64 HP:0002980
40 ulnar bowing64 HP:0003031
41 humeroradial synostosis64 HP:0003041
42 depressed nasal bridge64 HP:0005280
43 maternal virilization in pregnancy64 HP:0008072
44 low maternal serum estriol64 HP:0008073
45 tarsal synostosis64 HP:0008368
46 joint contracture of the hand64 HP:0009473
47 carpal synostosis64 HP:0009702
48 midface retrusion64 HP:0011800
49 camptodactyly64 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 Steroidogenesis27

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:

36
Placenta, Ovary, Kidney

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:

70
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)SNVPathogenicrs28931606GRCh37Chr 7, 75614973: 75614973
2PORNM_000941.2(POR): c.859G> C (p.Ala287Pro)SNVPathogenicrs121912974GRCh37Chr 7, 75612866: 75612866
3PORNM_000941.2(POR): c.731+1G> ASNVPathogenicrs786205099GRCh37Chr 7, 75610925: 75610925
4PORNM_000941.2(POR): c.1370G> A (p.Arg457His)SNVPathogenicrs28931608GRCh37Chr 7, 75614497: 75614497
5PORNM_000941.2(POR): c.1329dupC (p.Ile444Hisfs)duplicationPathogenicrs786205875GRCh37Chr 7, 75614456: 75614456
6PORNM_000941.2(POR): c.1733A> G (p.Tyr578Cys)SNVPathogenicrs121912975GRCh37Chr 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=)SNVPathogenicrs10262966GRCh37Chr 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)SNVPathogenicrs121912976GRCh37Chr 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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Cellular components related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:00432319.1MIR4651, POR

Biological processes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis according to GeneCards Suite gene sharing:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1carnitine metabolic processGO:00094379.9MIR4651, POR
2cellular organofluorine metabolic processGO:00903469.9MIR4651, POR
3cellular response to follicle-stimulating hormone stimulusGO:00713729.9MIR4651, POR
4cellular response to gonadotropin stimulusGO:00713719.9MIR4651, POR
5cellular response to peptide hormone stimulusGO:00713759.9MIR4651, POR
6demethylationGO:00709889.9MIR4651, POR
7fatty acid oxidationGO:00193959.9MIR4651, POR
8flavonoid metabolic processGO:00098129.9MIR4651, POR
9internal peptidyl-lysine acetylationGO:00183939.9MIR4651, POR
10negative regulation of apoptotic processGO:00430669.9MIR4651, POR
11negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00431549.8MIR4651, POR
12negative regulation of lipase activityGO:00601929.8MIR4651, POR
13nitrate catabolic processGO:00436029.8MIR4651, POR
14nitric oxide catabolic processGO:00462109.8MIR4651, POR
15oxidation-reduction processGO:00551149.8MIR4651, POR
16positive regulation of cholesterol biosynthetic processGO:00455429.8MIR4651, POR
17positive regulation of chondrocyte differentiationGO:00323329.8MIR4651, POR
18positive regulation of monooxygenase activityGO:00327709.8MIR4651, POR
19positive regulation of smoothened signaling pathwayGO:00458809.8MIR4651, POR
20positive regulation of steroid hormone biosynthetic processGO:00900319.8MIR4651, POR
21regulation of cholesterol metabolic processGO:00901819.8MIR4651, POR
22response to drugGO:00424939.7MIR4651, POR
23response to nutrientGO:00075849.6MIR4651, POR
24xenobiotic metabolic processGO:00068059.1MIR4651, POR

Molecular functions related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1[methionine synthase] reductase activityGO:00305869.9MIR4651, POR
2cytochrome-b5 reductase activity, acting on NAD(P)HGO:00041289.9MIR4651, POR
3electron carrier activityGO:00090559.9MIR4651, POR
4enzyme bindingGO:00198999.9MIR4651, POR
5flavin adenine dinucleotide bindingGO:00506609.9MIR4651, POR
6FMN bindingGO:00101819.9MIR4651, POR
7hydrolase activityGO:00167879.8MIR4651, POR
8iron-cytochrome-c reductase activityGO:00477269.8MIR4651, POR
9NADP bindingGO:00506619.8MIR4651, POR
10NADPH-hemoprotein reductase activityGO:00039589.8MIR4651, POR
11nitric oxide dioxygenase activityGO:00089419.8MIR4651, POR
12oxidoreductase activityGO:00164919.1MIR4651, POR

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

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67Tumor Gene Family of Databases
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