MCID: ANT042
MIFTS: 24

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 49 11 65
Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis 67 24
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 67
Antley-Bixler Syndrome with Disordered Steroidogenesis 65
 
Cytochrome P450 Oxidoreductase Deficiency 67
Por Deficiency 67
Abs1 67

Characteristics:

HPO:

61
antley-bixler syndrome with genital anomalies and disordered steroidogenesis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 201750
MeSH36 D054882
UMLS65 C3150099

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 camptodactyly, midface retrusion and carpal synostosis. 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: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 deficiency12.7
2disordered steroidogenesis due to cytochrome p450 oxidoreductase12.1
3bartter syndrome, type 111.6
4aromatase deficiency10.1
5antley-bixler syndrome10.1

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

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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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