MCID: ANT003
MIFTS: 48

Antley-Bixler Syndrome malady

Categories: Rare diseases, Genetic diseases, Bone diseases

Aliases & Classifications for Antley-Bixler Syndrome

Aliases & Descriptions for Antley-Bixler Syndrome:

Name: Antley-Bixler Syndrome 12 24 52 14
Antley-Bixler Syndrome Phenotype 42 69
Antley Bixler Syndrome 50 29
Multisynostotic Osteodysgenesis with Long Bone Fractures 50
Osteodysgenesis, Multisynostotic with Fractures 50
Trapezoidocephaly-Mulitple Synostosis Syndrome 24
Antley-Bixler Syndrome, Autosomal Dominant 69
Trapezoidocephaly-Synostosis Syndrome 12
Trapezoidocephaly Synostosis Syndrome 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0050462
MeSH 42 D054882
SNOMED-CT 64 62964007

Summaries for Antley-Bixler Syndrome

NIH Rare Diseases : 50 antley bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. the signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protruding eyes; low-set, unusually-formed ears; choanal atresia or stenosis (narrowing); fusion of adjacent arm bones (synostosis); joint contractures; arachnodactyly; bowing of the thigh bones; and/or urogenital (urinary tract and genital) abnormalities. the exact underlying cause of antley bixler syndrome is unknown in many cases; however, some are due to changes (mutations) in the fgfr2 gene or the por gene. there appear to be autosomal dominant and autosomal recessive forms of the condition. treatment is based on the signs and symptoms present in each person. last updated: 6/16/2015

MalaCards based summary : Antley-Bixler Syndrome, also known as antley-bixler syndrome phenotype, is related to antley-bixler syndrome with genital anomalies and disordered steroidogenesis and antley-bixler syndrome without genital anomalies or disordered steroidogenesis, and has symptoms including joint stiffness, hypertelorism and frontal bossing. An important gene associated with Antley-Bixler Syndrome is POR (Cytochrome P450 Oxidoreductase), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Central carbon metabolism in cancer. The drug Phytosterol has been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and limbs/digits/tail

Disease Ontology : 12 An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.

Related Diseases for Antley-Bixler Syndrome

Diseases related to Antley-Bixler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
id Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 12.6
2 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 12.6
3 disordered steroidogenesis due to cytochrome p450 oxidoreductase 11.9
4 cytochrome p450 oxidoreductase deficiency 11.8
5 bartter syndrome, type 2 11.1
6 bartter syndrome, type 1 11.1
7 synostosis 10.5
8 congenital adrenal hyperplasia 10.4
9 luteoma 10.3
10 papillorenal syndrome 10.2 CYP17A1 POR
11 deafness, autosomal recessive 29 10.1 CYP17A1 CYP21A2
12 chiari malformation 10.1
13 radioulnar synostosis 10.1
14 esophageal atresia 10.1
15 esophagitis 10.1
16 epithelial predominant pulmonary blastoma 10.1 CYP17A1 CYP21A2
17 pkp1-related ectodermal dysplasia/skin fragility syndrome 10.1 FGFR1 FGFR2
18 leukoencephalopathy with ataxia 10.1 CYP19A1 CYP21A2
19 pitx3-related anterior segment mesenchymal dysgenesis 10.1 FGFR1 FGFR2
20 familial porphyria cutanea tarda 10.1 FGFR1 FGFR2
21 hartsfield syndrome 10.1 FGFR1 FGFR2
22 pointer syndrome 10.1 FGFR1 FGFR2
23 osteoglophonic dysplasia 10.1 FGFR1 FGFR2
24 clear cell acanthoma 10.1 CYP17A1 CYP21A2
25 microphthalmia, syndromic 9 10.1 CYP17A1 CYP21A2
26 acrofacial dysostosis, palagonia type 10.1 FGFR1 FGFR2
27 tick-borne encephalitis 10.1 CYP17A1 CYP21A2
28 crouzon syndrome with acanthosis nigricans 10.1 FGFR1 FGFR2
29 cardiomyopathy, dilated, 1v 10.1 CYP17A1 CYP19A1
30 ameloblastoma 10.1 CYP17A1 CYP21A2
31 deafness, autosomal recessive 74 10.1 CYP17A1 CYP19A1
32 panuveitis 10.1 CYP17A1 CYP21A2
33 third ventricle chordoid glioma 10.1 CYP17A1 CYP19A1
34 scaphocephaly, maxillary retrusion, and mental retardation 10.1 FGFR1 FGFR2
35 apert syndrome 10.1 FGFR1 FGFR2
36 childhood optic tract astrocytoma 10.0 CYP17A1 CYP21A2
37 cervical cancer, somatic 10.0 FGFR1 FGFR2
38 thanatophoric dysplasia, type i 10.0 FGFR1 FGFR2
39 progesterone-receptor negative breast cancer 10.0 CYP19A1 FGFR2
40 saddan 10.0 FGFR1 FGFR2
41 jackson-weiss syndrome 10.0 CYP17A1 CYP21A2 POR
42 second-degree atrioventricular block 10.0 CYP17A1 CYP21A2 POR
43 cervical spinal canal and spinal cord meningioma 10.0 CYP19A1 CYP21A2 FGFR2
44 loeffler endocarditis 10.0 CYP17A1 CYP21A2
45 bone structure disease 10.0 FGFR1 FGFR2
46 borderline personality disorder 9.9 CYP17A1 CYP19A1 CYP21A2
47 liver sarcoma 9.9 CYP17A1 CYP19A1 CYP21A2
48 sphingolipidosis 9.9 CYP17A1 CYP19A1 CYP21A2
49 pelvic muscle wasting 9.9 CYP17A1 CYP19A1 CYP21A2
50 glioma susceptibility 1 9.9 CYP17A1 CYP19A1 CYP21A2

Graphical network of the top 20 diseases related to Antley-Bixler Syndrome:



Diseases related to Antley-Bixler Syndrome

Symptoms & Phenotypes for Antley-Bixler Syndrome

Human phenotypes related to Antley-Bixler Syndrome:

32 (show all 30)
id Description HPO Frequency HPO Source Accession
1 joint stiffness 32 HP:0001387
2 hypertelorism 32 HP:0000316
3 frontal bossing 32 HP:0002007
4 short nose 32 HP:0003196
5 anteverted nares 32 HP:0000463
6 brachycephaly 32 HP:0000248
7 cleft palate 32 HP:0000175
8 long philtrum 32 HP:0000343
9 strabismus 32 HP:0000486
10 narrow chest 32 HP:0000774
11 low-set, posteriorly rotated ears 32 HP:0000368
12 arachnodactyly 32 HP:0001166
13 downslanted palpebral fissures 32 HP:0000494
14 narrow mouth 32 HP:0000160
15 turricephaly 32 HP:0000262
16 choanal atresia 32 HP:0000453
17 abnormality of the ribs 32 HP:0000772
18 recurrent fractures 32 HP:0002757
19 proptosis 32 HP:0000520
20 craniosynostosis 32 HP:0001363
21 camptodactyly of finger 32 HP:0100490
22 talipes 32 HP:0001883
23 abnormality of cardiovascular system morphology 32 HP:0030680
24 narrow pelvis bone 32 HP:0003275
25 underdeveloped supraorbital ridges 32 HP:0009891
26 delayed cranial suture closure 32 HP:0000270
27 abnormal renal morphology 32 HP:0012210
28 femoral bowing 32 HP:0002980
29 elbow ankylosis 32 HP:0003070
30 hypoplasia of the zygomatic bone 32 HP:0010669

GenomeRNAi Phenotypes related to Antley-Bixler Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.64 CYP21A2 FGFR1 CYP17A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.64 CYP21A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.64 FGFR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.64 FGFR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.64 CYP21A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 CYP17A1 FGFR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.64 FGFR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.64 CYP21A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.64 CYP17A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.64 CYP21A2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.64 FGFR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.64 FGFR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.64 FGFR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.64 CYP21A2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.64 FGFR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.64 CYP17A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.64 CYP21A2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.64 FGFR1

MGI Mouse Phenotypes related to Antley-Bixler Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.65 FGFR2 POR CYP17A1 CYP51A1 FGFR1
2 craniofacial MP:0005382 9.62 CYP51A1 FGFR1 FGFR2 POR
3 muscle MP:0005369 9.55 CYP19A1 CYP51A1 FGFR1 FGFR2 POR
4 reproductive system MP:0005389 9.35 CYP17A1 CYP19A1 FGFR1 FGFR2 POR
5 skeleton MP:0005390 9.02 CYP17A1 CYP19A1 CYP51A1 FGFR1 FGFR2

Drugs & Therapeutics for Antley-Bixler Syndrome

Drugs for Antley-Bixler Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Phytosterol Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202

Search NIH Clinical Center for Antley-Bixler Syndrome

Cochrane evidence based reviews: antley-bixler syndrome phenotype

Genetic Tests for Antley-Bixler Syndrome

Genetic tests related to Antley-Bixler Syndrome:

id Genetic test Affiliating Genes
1 Antley-Bixler Syndrome 29 24 POR

Anatomical Context for Antley-Bixler Syndrome

MalaCards organs/tissues related to Antley-Bixler Syndrome:

39
Bone, Eye

Publications for Antley-Bixler Syndrome

Articles related to Antley-Bixler Syndrome:

(show top 50) (show all 78)
id Title Authors Year
1
Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses. ( 26969897 )
2016
2
Multidisciplinary Treatment of Antley-Bixler Syndrome. ( 26752126 )
2016
3
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype. ( 27496950 )
2016
4
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency. ( 26670660 )
2015
5
Gross Motor Function of a Child With Antley-Bixler Syndrome. ( 26397096 )
2015
6
Conditional deletion of cytochrome p450 reductase in osteoprogenitor cells affects long bone and skull development in mice recapitulating antley-bixler syndrome: role of a redox enzyme in development. ( 24086598 )
2013
7
Anesthetic risks associated with antley-bixler syndrome. ( 23348324 )
2013
8
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report. ( 24334858 )
2013
9
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. ( 23295302 )
2012
10
Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system. ( 22252407 )
2012
11
A case of antley-bixler syndrome. ( 24027687 )
2012
12
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. ( 21146417 )
2011
13
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. ( 21868813 )
2011
14
Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. ( 21705796 )
2011
15
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. ( 20124576 )
2010
16
Spectrum of Antley-Bixler syndrome. ( 20818252 )
2010
17
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. ( 18853185 )
2009
18
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. ( 19618668 )
2009
19
Did Akhenaten have the Antley-Bixler syndrome? ( 20008767 )
2009
20
Foot anomalies in Antley-Bixler syndrome: three case reports. ( 19471176 )
2008
21
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. ( 18455494 )
2008
22
[Antley-Bixler syndrome or POR deficiency?]. ( 18630181 )
2008
23
Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report. ( 17429125 )
2007
24
P450 oxidoreductase deficiency and Antley-Bixler syndrome. ( 17960482 )
2007
25
Otologic findings in Antley-Bixler syndrome: a clinical and radiologic case report. ( 17482285 )
2007
26
Anesthesia for an infant with Antley-Bixler syndrome. ( 17474961 )
2007
27
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. ( 16470797 )
2006
28
Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. ( 16998238 )
2006
29
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. ( 16906539 )
2006
30
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. ( 15483095 )
2005
31
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. ( 15793702 )
2005
32
A case of Antley-Bixler syndrome with severe skeletal Cl. III malocclusion. ( 15536859 )
2004
33
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. ( 15216541 )
2004
34
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. ( 15316970 )
2004
35
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. ( 14758361 )
2004
36
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. ( 15264278 )
2004
37
Correction of facial deformity using a Red III device in a patient with Antley-Bixler syndrome. ( 15547402 )
2004
38
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase. ( 15491389 )
2004
39
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. ( 15266606 )
2004
40
Antley-Bixler syndrome with radioulnar synostosis. ( 14513299 )
2004
41
Antley-Bixler syndrome: correction of facial deformities and long-term survival. ( 12618604 )
2003
42
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. ( 12116245 )
2002
43
Antley-Bixler syndrome, description of two new cases and review of the literature. ( 11275784 )
2001
44
Antley-Bixler syndrome: report of a case. ( 11149533 )
2001
45
Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. ( 11430730 )
2001
46
Antley-Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity. ( 11453978 )
2001
47
The Antley-Bixler syndrome: two new cases. ( 11832641 )
2001
48
Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome. ( 10726707 )
2000
49
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. ( 10664233 )
2000
50
Antley-Bixler syndrome associated with Arnold-Chiari malformation. ( 10914975 )
2000

Variations for Antley-Bixler Syndrome

Expression for Antley-Bixler Syndrome

Search GEO for disease gene expression data for Antley-Bixler Syndrome.

Pathways for Antley-Bixler Syndrome

Pathways related to Antley-Bixler Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 CYP17A1 CYP19A1 CYP21A2 CYP51A1 POR
2 11.27 FGFR1 FGFR2
3
Show member pathways
11.17 CYP17A1 CYP19A1
4 11.1 CYP17A1 CYP19A1
5
Show member pathways
11.08 CYP17A1 CYP19A1 CYP21A2
6 11.04 FGFR1 FGFR2
7 10.97 FGFR1 FGFR2
8
Show member pathways
10.61 CYP17A1 CYP19A1 CYP21A2
9
Show member pathways
10.58 CYP17A1 CYP21A2

GO Terms for Antley-Bixler Syndrome

Cellular components related to Antley-Bixler Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.46 CYP21A2 CYP51A1 FGFR2 POR
2 endoplasmic reticulum GO:0005783 9.35 CYP17A1 CYP19A1 CYP21A2 CYP51A1 POR
3 endoplasmic reticulum membrane GO:0005789 9.02 CYP17A1 CYP19A1 CYP21A2 CYP51A1 POR

Biological processes related to Antley-Bixler Syndrome according to GeneCards Suite gene sharing:

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.77 CYP17A1 CYP19A1 CYP21A2 CYP51A1 POR
2 steroid metabolic process GO:0008202 9.69 CYP17A1 CYP21A2 CYP51A1
3 inner ear morphogenesis GO:0042472 9.6 FGFR1 FGFR2
4 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.59 FGFR1 FGFR2
5 ureteric bud development GO:0001657 9.58 FGFR1 FGFR2
6 skeletal system morphogenesis GO:0048705 9.58 FGFR1 FGFR2
7 positive regulation of cell cycle GO:0045787 9.57 FGFR1 FGFR2
8 midbrain development GO:0030901 9.56 FGFR1 FGFR2
9 positive regulation of mesenchymal cell proliferation GO:0002053 9.55 FGFR1 FGFR2
10 positive regulation of cardiac muscle cell proliferation GO:0060045 9.54 FGFR1 FGFR2
11 branching involved in salivary gland morphogenesis GO:0060445 9.52 FGFR1 FGFR2
12 lung-associated mesenchyme development GO:0060484 9.49 FGFR1 FGFR2
13 mesenchymal cell differentiation GO:0048762 9.48 FGFR1 FGFR2
14 positive regulation of phospholipase activity GO:0010518 9.46 FGFR1 FGFR2
15 glucocorticoid biosynthetic process GO:0006704 9.43 CYP17A1 CYP21A2
16 demethylation GO:0070988 9.4 CYP51A1 POR
17 orbitofrontal cortex development GO:0021769 9.32 FGFR1 FGFR2
18 ventricular zone neuroblast division GO:0021847 9.26 FGFR1 FGFR2
19 steroid biosynthetic process GO:0006694 9.26 CYP17A1 CYP19A1 CYP21A2 CYP51A1
20 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.16 FGFR1 FGFR2
21 sterol metabolic process GO:0016125 8.92 CYP17A1 CYP19A1 CYP21A2 CYP51A1

Molecular functions related to Antley-Bixler Syndrome according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 CYP17A1 CYP19A1 CYP21A2 CYP51A1 POR
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.49 FGFR1 FGFR2
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.48 FGFR1 FGFR2
4 oxygen binding GO:0019825 9.46 CYP17A1 CYP19A1
5 iron ion binding GO:0005506 9.46 CYP17A1 CYP19A1 CYP21A2 CYP51A1
6 1-phosphatidylinositol-3-kinase activity GO:0016303 9.43 FGFR1 FGFR2
7 fibroblast growth factor binding GO:0017134 9.4 FGFR1 FGFR2
8 steroid hydroxylase activity GO:0008395 9.37 CYP19A1 CYP21A2
9 fibroblast growth factor-activated receptor activity GO:0005007 9.32 FGFR1 FGFR2
10 heme binding GO:0020037 9.26 CYP17A1 CYP19A1 CYP21A2 CYP51A1
11 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.92 CYP17A1 CYP19A1 CYP21A2 CYP51A1

Sources for Antley-Bixler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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