MCID: ANT003
MIFTS: 50

Antley-Bixler Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Antley-Bixler Syndrome

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Antley-Bixler Syndrome:

Name: Antley-Bixler Syndrome 10 47 12 51
Antley Bixler Syndrome 45 22 24
Multisynostotic Osteodysgenesis with Long Bone Fractures 45
Osteodysgenesis, Multisynostotic with Fractures 45
Trapezoidocephaly-Mulitple Synostosis Syndrome 22
 
Antley-Bixler Syndrome, Autosomal Dominant 65
Trapezoidocephaly Synostosis Syndrome 45
Trapezoidocephaly-Synostosis Syndrome 10
Antley-Bixler Syndrome Phenotype 36


Classifications:



Characteristics (Orphanet epidemiological data):

51
antley-bixler syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile


External Ids:

Disease Ontology10 DOID:0050462
MeSH36 D054882
Orphanet51 83
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C537780
UMLS via Orphanet66 C0265307

Summaries for Antley-Bixler Syndrome

About this section
NIH Rare Diseases:45 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 with genital anomalies and disordered steroidogenesis and antley-bixler syndrome without genital anomalies or disordered steroidogenesis, and has symptoms including brachycephaly/flat occiput, frontal bossing/prominent forehead and flat cheek bones/malar hypoplasia. An important gene associated with Antley-Bixler Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are Steroid hormone biosynthesis and superpathway of steroid hormone biosynthesis. Affiliated tissues include bone, eye and kidney, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:10 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

About this section

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

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1antley-bixler syndrome with genital anomalies and disordered steroidogenesis10.9
2antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.8
3cytochrome p450 oxidoreductase deficiency10.8
4synostosis10.7
5congenital adrenal hyperplasia10.6
6disordered steroidogenesis due to cytochrome p450 oxidoreductase10.5
7luteoma10.5
8esophageal atresia10.4
9radioulnar synostosis10.4
10esophagitis10.4
11chiari malformation10.4
12pfeiffer syndrome type 1, 2 and 310.2FGFR1, FGFR2
1317-alpha-hydroxylase/17,20-lyase deficiency10.2CYP17A1, POR
14spinocerebellar ataxia 510.2FGFR1, FGFR2
15functioning gonadotropic adenoma10.1CYB5A, CYP17A1
16alopecia, androgenetic, 110.1CYP19A1, CYP21A2
17classic kaposi sarcoma10.1CYP21A2, POMC
18spondylocostal dysostosis - anal and genitourinary malformations10.1CYP21A2, POMC
19lipoid adrenal hyperplasia10.1POMC, POR
20adrenal gland disease10.1CYP21A2, POMC
21mycobacterium abscessus10.1CYP17A1, CYP19A1
22toxic megacolon10.1CYP21A2, POMC
23jmp syndrome10.1CYP17A1, POMC
24adams-oliver syndrome 610.0CYP19A1, POMC
25beare-stevenson cutis gyrata syndrome10.0FGFR2, FGFR3
26barbiturate abuse10.0FGFR2, FGFR3
27her2-receptor positive breast cancer10.0CYP17A1, CYP19A1
28reticular pattern testicular yolk sac tumor10.0CYP17A1, CYP19A1, CYP21A2
29adrenal gland pheochromocytoma10.0CYP17A1, POMC
30lice infestation10.0CYP17A1, CYP19A1, CYP21A2
31breast adenoid cystic carcinoma10.0CYP17A1, POMC
32breast cyst10.0CYP19A1, FGFR1
33synovial chondromatosis, familial with dwarfism10.0FGFR1, FGFR3
34gonococcal iridocyclitis10.0FGFR2, FGFR3
35post-transplant lymphoproliferative disease10.0CYP17A1, CYP19A1, CYP21A2
36retinal dystrophies primarily involving bruch's membrane10.0CYP17A1, CYP21A2, POMC
37steroid-induced glaucoma10.0CYP17A1, CYP21A2, POMC
38adrenal cortex disease10.0CYP17A1, CYP21A2, POMC
39slc16a1-related hyperinsulinism10.0FGFR2, FGFR3
40conjugate gaze palsy10.0CYP17A1, CYP21A2, POMC
41von economo's disease9.9CYP21A2, FGFR2, FGFR3
42bile reflux9.9CYP17A1, CYP21A2, POMC
43flna-related periventricular nodular heterotopia9.9FGFR1, FGFR2, FGFR3
44plagiocephaly and x-linked mental retardation9.9FGFR1, FGFR2, FGFR3
45osteoglophonic dysplasia9.9FGFR1, FGFR2, FGFR3
46muenke syndrome9.9FGFR1, FGFR2, FGFR3
47jackson-weiss syndrome9.9FGFR1, FGFR2, FGFR3
48neonatal abstinence syndrome9.9FGFR1, FGFR2, FGFR3
49testicular brenner tumor9.9FGFR1, FGFR2, FGFR3
50acrodermatitis9.9FGFR1, FGFR2, FGFR3

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



Diseases related to antley-bixler syndrome

Symptoms for Antley-Bixler Syndrome

About this section

Symptoms:

 51 (show all 30)
  • brachycephaly/flat occiput
  • frontal bossing/prominent forehead
  • flat cheek bones/malar hypoplasia
  • short/small nose
  • anteverted nares/nostrils
  • low set ears/posteriorly rotated ears
  • narrow rib cage/thorax
  • rib structure anomalies
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • humeroradial fusion
  • long hand/arachnodactyly
  • camptodactyly of fingers
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • congenital cardiac anomaly/malformation/cardiopathy
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • craniostenosis/craniosynostosis/sutural synostosis
  • proptosis/exophthalmos
  • choanal atresia
  • structural anomalies of the kidney and the urinary tract
  • turricephaly/oxycephaly/acrocephaly
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • flat supraorbital ridge
  • strabismus/squint
  • microstomia/little mouth
  • long philtrum
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • talipes-varus/metatarsal varus
  • mutiple fractures/bone fragility

Drugs & Therapeutics for Antley-Bixler Syndrome

About this section

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

About this section

Genetic tests related to Antley-Bixler Syndrome:

id Genetic test Affiliating Genes
1 Antley-Bixler Syndrome22 24 POR

Anatomical Context for Antley-Bixler Syndrome

About this section

MalaCards organs/tissues related to Antley-Bixler Syndrome:

33
Bone, Eye, Kidney

Animal Models for Antley-Bixler Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Antley-Bixler Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1CYP19A1, FGFR1, FGFR2, FGFR3
2MP:00053828.7CYP51A1, FGFR1, FGFR2, FGFR3, POR
3MP:00053718.7CYP51A1, FGFR1, FGFR2, FGFR3, POR
4MP:00053698.6CYP19A1, CYP51A1, FGFR1, FGFR2, POR
5MP:00030128.3CYP51A1, FGFR1, FGFR2, FGFR3, POMC
6MP:00053678.2FGFR1, FGFR2, FGFR3, POMC, POR
7MP:00053708.2CYB5A, CYP19A1, FGFR2, POMC, POR
8MP:00053857.7CYP19A1, CYP51A1, FGFR1, FGFR2, POMC, POR
9MP:00053867.0CYP17A1, CYP19A1, FGFR1, FGFR2, FGFR3, POMC
10MP:00053766.5CYB5A, CYP17A1, CYP19A1, CYP51A1, FGFR2, FGFR3

Publications for Antley-Bixler Syndrome

About this section

Articles related to Antley-Bixler Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Gross Motor Function of a Child With Antley-Bixler Syndrome. (26397096)
2015
2
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
3
Anesthetic risks associated with antley-bixler syndrome. (23348324)
2013
4
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report. (24334858)
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
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. (21146417)
2011
9
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. (21868813)
2011
10
Spectrum of Antley-Bixler syndrome. (20818252)
2010
11
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. (20124576)
2010
12
Foot anomalies in Antley-Bixler syndrome: three case reports. (19471176)
2008
13
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. (18455494)
2008
14
Antley-Bixler syndrome or POR deficiency?]. (18630181)
2008
15
Anesthesia for an infant with Antley-Bixler syndrome. (17474961)
2007
16
Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. (16998238)
2006
17
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. (16470797)
2006
18
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
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
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
24
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (15264278)
2004
25
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. (12116245)
2002
26
Antley-Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity. (11453978)
2001
27
Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. (11430730)
2001
28
The Antley-Bixler syndrome: two new cases. (11832641)
2001
29
Antley-Bixler syndrome: report of a case. (11149533)
2001
30
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. (10664233)
2000
31
Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome. (10726707)
2000
32
Antley-Bixler syndrome associated with Arnold-Chiari malformation. (10914975)
2000
33
Musculoskeletal manifestations of the Antley-Bixler syndrome. (10218180)
1999
34
Not Antley-Bixler syndrome. (10076887)
1999
35
Patient described by Chun et al. may not present Antley-Bixler syndrome. (10076886)
1999
36
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. (9605588)
1998
37
The Antley-Bixler syndrome. A new case without radiohumeral synostosis. (9664207)
1998
38
Antley-Bixler syndrome: a case report and discussion. (9483606)
1998
39
Antley-Bixler syndrome. Description of two new cases and a review of the literature. (9224917)
1997
40
Antley-Bixler syndrome: case report and review of the literature. (9018420)
1997
41
Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture. (8742293)
1996
42
Antley-Bixler syndrome. (9001819)
1996
43
Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21. (7774045)
1995
44
The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies. (7720741)
1995
45
Antley-Bixler syndrome: case report and review of the literature. (8588853)
1995
46
Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome? (8267929)
1993
47
The otolaryngologic manifestations of Antley-Bixler syndrome. (1848927)
1991
48
Antley-Bixler syndrome: description of two patients. (1896874)
1991
49
Antley-Bixler syndrome in a sister and brother. (3448306)
1987
50
The first case of the Antley-Bixler syndrome with a consanguinity in Japan. (6672365)
1983

Variations for Antley-Bixler Syndrome

About this section

Clinvar genetic disease variations for Antley-Bixler Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys)single nucleotide variantPathogenicrs121918502GRCh37Chr 10, 123276865: 123276865

Expression for genes affiliated with Antley-Bixler Syndrome

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

Pathways for genes affiliated with Antley-Bixler Syndrome

About this section

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

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3CYP17A1, CYP19A1, CYP21A2
2
Show member pathways
9.3CYP17A1, CYP19A1, CYP21A2
39.2FGFR1, FGFR2, FGFR3
49.2FGFR1, FGFR2, FGFR3
5
Show member pathways
9.2FGFR1, FGFR2, FGFR3
6
Show member pathways
9.2FGFR1, FGFR2, FGFR3
79.2FGFR1, FGFR2, FGFR3
8
Show member pathways
9.2FGFR1, FGFR2, FGFR3
9
Show member pathways
9.2FGFR1, FGFR2, FGFR3
10
Show member pathways
9.2FGFR1, FGFR2, FGFR3
119.2FGFR1, FGFR2, FGFR3
129.2FGFR1, FGFR2, FGFR3
13
Angiogenesis (CST)
Show member pathways
9.2FGFR1, FGFR2, FGFR3
149.2FGFR1, FGFR2, FGFR3
159.2FGFR1, FGFR2, FGFR3
16
Show member pathways
8.5CYP17A1, CYP19A1, CYP21A2, POMC
17
Show member pathways
8.0CYP17A1, CYP19A1, CYP21A2, CYP51A1, POMC
18
Show member pathways
7.0CYB5A, CYP17A1, CYP19A1, CYP21A2, CYP51A1, POMC

GO Terms for genes affiliated with Antley-Bixler Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:00432318.7CYB5A, CYP51A1, FGFR2, POR
2endoplasmic reticulumGO:00057838.0CYB5A, CYP17A1, CYP19A1, CYP51A1, FGFR3
3endoplasmic reticulum membraneGO:00057897.5CYB5A, CYP17A1, CYP19A1, CYP21A2, CYP51A1, POR

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

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1orbitofrontal cortex developmentGO:002176910.4FGFR1, FGFR2
2ventricular zone neuroblast divisionGO:002184710.4FGFR1, FGFR2
3fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.4FGFR1, FGFR2
4progesterone metabolic processGO:004244810.4CYP17A1, CYP21A2
5positive regulation of mesenchymal cell proliferationGO:000205310.4FGFR1, FGFR2
6positive regulation of cardiac muscle cell proliferationGO:006004510.4FGFR1, FGFR2
7midbrain developmentGO:003090110.4FGFR1, FGFR2
8lung-associated mesenchyme developmentGO:006048410.3FGFR1, FGFR2
9cellular response to peptide hormone stimulusGO:007137510.3CYP21A2, POR
10positive regulation of cell cycleGO:004578710.3FGFR1, FGFR2
11mesenchymal cell differentiationGO:004876210.3FGFR1, FGFR2
12branching involved in salivary gland morphogenesisGO:006044510.3FGFR1, FGFR2
13ureteric bud developmentGO:000165710.3FGFR1, FGFR2
14glucocorticoid biosynthetic processGO:000670410.3CYP17A1, CYP21A2
15lens fiber cell developmentGO:007030710.2FGFR2, FGFR3
16negative regulation of mitotic nuclear divisionGO:004583910.2FGFR2, FGFR3
17positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.2FGFR1, FGFR3
18demethylationGO:007098810.1CYP51A1, POR
19bone morphogenesisGO:006034910.0FGFR2, FGFR3
20bone mineralizationGO:00302829.8FGFR2, FGFR3
21positive regulation of MAPK cascadeGO:00434109.8FGFR1, FGFR2, FGFR3
22phosphatidylinositol-mediated signalingGO:00480159.8FGFR1, FGFR2, FGFR3
23positive regulation of phospholipase activityGO:00105189.8FGFR1, FGFR2, FGFR3
24steroid metabolic processGO:00082029.6CYP17A1, CYP19A1, CYP21A2
25protein autophosphorylationGO:00467779.6FGFR1, FGFR2, FGFR3
26steroid biosynthetic processGO:00066949.6CYP17A1, CYP19A1, CYP51A1
27skeletal system morphogenesisGO:00487059.5FGFR1, FGFR2
28peptidyl-tyrosine phosphorylationGO:00181089.4FGFR1, FGFR2, FGFR3
29chondrocyte differentiationGO:00020629.4FGFR1, FGFR3
30activation of MAPKK activityGO:00001869.3FGFR1, FGFR2, FGFR3
31Ras protein signal transductionGO:00072659.2FGFR1, FGFR2, FGFR3
32xenobiotic metabolic processGO:00068059.2CYP17A1, CYP19A1, CYP21A2, CYP51A1
33sterol metabolic processGO:00161259.2CYP17A1, CYP19A1, CYP21A2, CYP51A1
34oxidation-reduction processGO:00551147.8CYB5A, CYP17A1, CYP19A1, 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:00050079.8FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.8FGFR1, FGFR2, FGFR3
3protein tyrosine kinase activityGO:00047139.1FGFR1, FGFR2, FGFR3
4oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygenGO:00167058.9CYP17A1, CYP19A1, CYP21A2, CYP51A1
5iron ion bindingGO:00055068.6CYP17A1, CYP19A1, CYP21A2, CYP51A1, POR
6heme bindingGO:00200378.2CYB5A, CYP17A1, CYP19A1, CYP21A2, CYP51A1

Sources for Antley-Bixler Syndrome

About this section
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