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...

About this section

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

Name: Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 50 12
Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis 68 25
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 68
 
Cytochrome P450 Oxidoreductase Deficiency 68
Por Deficiency 68
Abs1 68

Characteristics:

HPO:

62
antley-bixler syndrome with genital anomalies and disordered steroidogenesis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 201750
MeSH37 D054882

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

About this section
OMIM:50 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:68 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...

About this section

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 oxidoreductase31.2MIR4651, POR
2cytochrome p450 oxidoreductase deficiency11.6
3bartter syndrome, type 111.0
4dfna2 nonsyndromic hearing loss9.5MIR4651, POR
5cerebral cavernous malformations-19.2MIR4651, 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 for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

About this section

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

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

About this section

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...

About this section

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 Steroidogenesis25

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

About this section

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

34
Placenta, Ovary, Kidney

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

About this section

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

About this section

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

About this section

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

68
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...

About this section
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...

About this section

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

About this section

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
1nitric oxide catabolic processGO:00462109.8MIR4651, POR
2nitrate catabolic processGO:00436029.8MIR4651, POR
3cellular organofluorine metabolic processGO:00903469.8MIR4651, POR
4positive regulation of monooxygenase activityGO:00327709.8MIR4651, POR
5positive regulation of cholesterol biosynthetic processGO:00455429.8MIR4651, POR
6cellular response to follicle-stimulating hormone stimulusGO:00713729.8MIR4651, POR
7negative regulation of lipase activityGO:00601929.8MIR4651, POR
8internal peptidyl-lysine acetylationGO:00183939.8MIR4651, POR
9positive regulation of chondrocyte differentiationGO:00323329.8MIR4651, POR
10carnitine metabolic processGO:00094379.7MIR4651, POR
11fatty acid oxidationGO:00193959.7MIR4651, POR
12cellular response to peptide hormone stimulusGO:00713759.7MIR4651, POR
13flavonoid metabolic processGO:00098129.7MIR4651, POR
14demethylationGO:00709889.7MIR4651, POR
15positive regulation of steroid hormone biosynthetic processGO:00900319.6MIR4651, POR
16cellular response to gonadotropin stimulusGO:00713719.6MIR4651, POR
17positive regulation of smoothened signaling pathwayGO:00458809.6MIR4651, POR
18response to nutrientGO:00075849.6MIR4651, POR
19regulation of cholesterol metabolic processGO:00901819.6MIR4651, POR
20negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00431549.3MIR4651, POR
21xenobiotic metabolic processGO:00068059.2MIR4651, POR
22negative regulation of apoptotic processGO:00430669.2MIR4651, POR
23oxidation-reduction processGO:00551149.1MIR4651, POR
24response to drugGO:00424939.1MIR4651, 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:00305869.8MIR4651, POR
2iron-cytochrome-c reductase activityGO:00477269.8MIR4651, POR
3nitric oxide dioxygenase activityGO:00089419.6MIR4651, POR
4NADPH-hemoprotein reductase activityGO:00039589.6MIR4651, POR
5cytochrome-b5 reductase activity, acting on NAD(P)HGO:00041289.6MIR4651, POR
6hydrolase activityGO:00167879.4MIR4651, POR
7oxidoreductase activityGO:00164919.3MIR4651, POR
8FMN bindingGO:00101819.2MIR4651, POR
9electron carrier activityGO:00090559.1MIR4651, POR
10enzyme bindingGO:00198999.1MIR4651, POR
11flavin adenine dinucleotide bindingGO:00506609.0MIR4651, POR
12NADP bindingGO:00506618.8MIR4651, POR

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet