MCID: ANT003
MIFTS: 43

Antley-Bixler Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Antley-Bixler Syndrome

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Aliases & Descriptions for Antley-Bixler Syndrome:

Name: Antley-Bixler Syndrome 11 23 13 48
Antley Bixler Syndrome 46 25
Multisynostotic Osteodysgenesis with Long Bone Fractures 46
Osteodysgenesis, Multisynostotic with Fractures 46
Trapezoidocephaly-Mulitple Synostosis Syndrome 23
 
Antley-Bixler Syndrome, Autosomal Dominant 66
Trapezoidocephaly Synostosis Syndrome 46
Trapezoidocephaly-Synostosis Syndrome 11
Antley-Bixler Syndrome Phenotype 37

Classifications:



External Ids:

Disease Ontology11 DOID:0050462
SNOMED-CT60 62964007
MeSH37 D054882
UMLS66 C1860042, C2350233, C2936791

Summaries for Antley-Bixler Syndrome

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NIH Rare Diseases:46 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, is related to antley-bixler syndrome without genital anomalies or disordered steroidogenesis and antley-bixler syndrome with genital anomalies and disordered steroidogenesis. An important gene associated with Antley-Bixler Syndrome is POR (Cytochrome P450 Oxidoreductase), and among its related pathways are Central carbon metabolism in cancer and FGF signaling pathway. Affiliated tissues include bone and eye, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Disease Ontology:11 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

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

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1antley-bixler syndrome without genital anomalies or disordered steroidogenesis34.2FGFR1, FGFR2
2antley-bixler syndrome with genital anomalies and disordered steroidogenesis12.6
3cytochrome p450 oxidoreductase deficiency11.9
4disordered steroidogenesis due to cytochrome p450 oxidoreductase11.6
5synostosis10.6
6congenital adrenal hyperplasia10.5
7luteoma10.4
8pfn1-related amyotrophic lateral sclerosis10.4FGFR1, FGFR2
9flnb-related disorders10.3FGFR1, FGFR2
10plasmalogens synthesis deficiency isolated10.3FGFR1, FGFR2
11trigonocephaly 110.3FGFR1, FGFR2
12bladder cancer, somatic10.3FGFR1, FGFR2
13hypogonadotropic hypogonadism 2 with or without anosmia10.3FGFR1, FGFR2
14uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis10.3FGFR1, FGFR2
15central nervous system leukemia10.3FGFR1, FGFR2
16thanatophoric dysplasia, type i10.3FGFR1, FGFR2
17mite infestation10.3CYP21A2, FGFR2
18radioulnar synostosis10.3
19esophageal atresia10.3
20esophagitis10.3
21chiari malformation10.3
22beare-stevenson cutis gyrata syndrome10.2FGFR1, FGFR2
23thanatophoric dysplasia, type ii10.2FGFR1, FGFR2
24ischemic bone disease10.2FGFR1, FGFR2
25hypochondroplasia10.2FGFR1, FGFR2
26craniosynostosis, type 110.1FGFR1, FGFR2
27progeria10.0FGFR1, FGFR2
28vasculogenic impotence10.0CYP17A1, CYP21A2
29benign shuddering attacks10.0CYP17A1, CYP21A2
30gaucher's disease10.0CYP17A1, CYP21A2
31myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.0FGFR1, FGFR2
32crohn's disease10.0FGFR1, FGFR2
33neurilemmoma of the pleura10.0CYP17A1, CYP21A2
34dental pulp necrosis9.9CYP17A1, CYP21A2
35jackson-weiss syndrome9.9FGFR1, FGFR2
36adrenal cortex disease9.9CYP17A1, CYP21A2
37spastic paraplegia 45, autosomal recessive9.7CYB5A, CYP17A1, POR
38first-degree atrioventricular block9.7CYP17A1, CYP21A2, POR
39hypertrophic cardiomyopathy9.7FGFR1, FGFR2
40dfna2 nonsyndromic hearing loss9.3CYP17A1, CYP21A2, FGFR2, POR
41weill-marchesani syndrome7.6CYB5A, CYP17A1, CYP21A2, CYP51A1, FGFR1, FGFR2

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



Diseases related to antley-bixler syndrome

Symptoms for Antley-Bixler Syndrome

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Drugs & Therapeutics for Antley-Bixler Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Inborn Errors of Cholesterol Synthesis and Related DisordersRecruitingNCT00046202

Search NIH Clinical Center for Antley-Bixler Syndrome


Cochrane evidence based reviews: antley-bixler syndrome phenotype

Genetic Tests for Antley-Bixler Syndrome

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Genetic tests related to Antley-Bixler Syndrome:

id Genetic test Affiliating Genes
1 Antley-Bixler Syndrome25 23 POR

Anatomical Context for Antley-Bixler Syndrome

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MalaCards organs/tissues related to Antley-Bixler Syndrome:

34
Bone, Eye

Animal Models for Antley-Bixler Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Antley-Bixler Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0CYP51A1, FGFR1, FGFR2, POR
2MP:00053718.0CYP17A1, CYP51A1, FGFR1, FGFR2, POR
3MP:00053767.5CYB5A, CYP17A1, CYP51A1, FGFR1, FGFR2, POR

Publications for Antley-Bixler Syndrome

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Articles related to Antley-Bixler Syndrome:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype. (27496950)
2016
2
Gross Motor Function of a Child With Antley-Bixler Syndrome. (26397096)
2015
3
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency. (26670660)
2015
4
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
5
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
6
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. (23295302)
2012
7
A case of antley-bixler syndrome. (24027687)
2012
8
Spectrum of Antley-Bixler syndrome. (20818252)
2010
9
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. (20124576)
2010
10
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. (18455494)
2008
11
Foot anomalies in Antley-Bixler syndrome: three case reports. (19471176)
2008
12
Anesthesia for an infant with Antley-Bixler syndrome. (17474961)
2007
13
Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report. (17429125)
2007
14
Otologic findings in Antley-Bixler syndrome: a clinical and radiologic case report. (17482285)
2007
15
Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. (16998238)
2006
16
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. (16470797)
2006
17
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. (16906539)
2006
18
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. (15793702)
2005
19
A case of Antley-Bixler syndrome with severe skeletal Cl. III malocclusion. (15536859)
2004
20
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. (15266606)
2004
21
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (14758361)
2004
22
Correction of facial deformity using a Red III device in a patient with Antley-Bixler syndrome. (15547402)
2004
23
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (15264278)
2004
24
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase. (15491389)
2004
25
Antley-Bixler syndrome with radioulnar synostosis. (14513299)
2004
26
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. (12116245)
2002
27
Antley-Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity. (11453978)
2001
28
Antley-Bixler syndrome, description of two new cases and review of the literature. (11275784)
2001
29
Antley-Bixler syndrome associated with Arnold-Chiari malformation. (10914975)
2000
30
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? (10633130)
2000
31
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. (10664233)
2000
32
Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome. (10726707)
2000
33
Not Antley-Bixler syndrome. (10076887)
1999
34
Musculoskeletal manifestations of the Antley-Bixler syndrome. (10218180)
1999
35
The Antley-Bixler syndrome. A new case without radiohumeral synostosis. (9664207)
1998
36
Antley-Bixler syndrome: a case report and discussion. (9483606)
1998
37
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. (9605588)
1998
38
Antley-Bixler syndrome. Description of two new cases and a review of the literature. (9224917)
1997
39
Antley-Bixler syndrome: case report and review of the literature. (9018420)
1997
40
Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture. (8742293)
1996
41
Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21. (7774045)
1995
42
The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies. (7720741)
1995
43
Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome? (8267929)
1993
44
Antley-Bixler syndrome. (1560511)
1992
45
Antley-Bixler syndrome: description of two patients. (1896874)
1991
46
Picture of the month. Antley-Bixler syndrome. (2035500)
1991
47
The otolaryngologic manifestations of Antley-Bixler syndrome. (1848927)
1991
48
Antley-Bixler syndrome in a sister and brother. (3448306)
1987
49
The first case of the Antley-Bixler syndrome with a consanguinity in Japan. (6672365)
1983
50
The Antley-Bixler syndrome. (7097411)
1982

Variations for Antley-Bixler Syndrome

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Expression for genes affiliated with Antley-Bixler Syndrome

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

Pathways for genes affiliated with Antley-Bixler Syndrome

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GO Terms for genes affiliated with Antley-Bixler Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:00432318.3CYB5A, CYP51A1, FGFR2, POR
2endoplasmic reticulum membraneGO:00057897.5CYB5A, CYP17A1, CYP21A2, CYP51A1, POR

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.3FGFR1, FGFR2
2phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.2FGFR1, FGFR2
3mesenchymal cell differentiationGO:004876210.2FGFR1, FGFR2
4regulation of phosphatidylinositol 3-kinase signalingGO:001406610.2FGFR1, FGFR2
5positive regulation of cardiac muscle cell proliferationGO:006004510.2FGFR1, FGFR2
6positive regulation of cell cycleGO:004578710.2FGFR1, FGFR2
7skeletal system morphogenesisGO:004870510.2FGFR1, FGFR2
8positive regulation of phospholipase activityGO:001051810.2FGFR1, FGFR2
9branching involved in salivary gland morphogenesisGO:006044510.1FGFR1, FGFR2
10positive regulation of mesenchymal cell proliferationGO:000205310.1FGFR1, FGFR2
11ventricular zone neuroblast divisionGO:002184710.1FGFR1, FGFR2
12positive regulation of steroid hormone biosynthetic processGO:009003110.0CYP17A1, POR
13cellular response to gonadotropin stimulusGO:007137110.0CYP17A1, POR
14midbrain developmentGO:003090110.0FGFR1, FGFR2
15ureteric bud developmentGO:00016579.9FGFR1, FGFR2
16demethylationGO:00709889.8CYP51A1, POR
17glucocorticoid biosynthetic processGO:00067049.8CYP17A1, CYP21A2
18inner ear morphogenesisGO:00424729.8FGFR1, FGFR2
19steroid metabolic processGO:00082029.7CYP17A1, CYP21A2
20orbitofrontal cortex developmentGO:00217699.6FGFR1, FGFR2
21lung-associated mesenchyme developmentGO:00604849.3FGFR1, FGFR2
22steroid biosynthetic processGO:00066948.9CYP17A1, CYP21A2, CYP51A1
23sterol metabolic processGO:00161258.9CYP17A1, CYP21A2, CYP51A1
24oxidation-reduction processGO:00551147.5CYB5A, CYP17A1, CYP21A2, CYP51A1, POR

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:000500710.2FGFR1, FGFR2
21-phosphatidylinositol-3-kinase activityGO:001630310.2FGFR1, FGFR2
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.2FGFR1, FGFR2
4fibroblast growth factor bindingGO:001713410.1FGFR1, FGFR2
5iron ion bindingGO:00055068.5CYP17A1, CYP21A2, CYP51A1
6heme bindingGO:00200377.7CYB5A, CYP17A1, CYP21A2, CYP51A1

Sources for Antley-Bixler Syndrome

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