MCID: ANT003
MIFTS: 51

Antley-Bixler Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Antley-Bixler Syndrome

About this section
Sources:
10Disease Ontology, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 45NIH Rare Diseases, 24GTR, 36MeSH, 65UMLS, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Antley-Bixler Syndrome:

Name: Antley-Bixler Syndrome 10 22 47 12 51
Antley-Bixler Syndrome Phenotype 36 65
Antley Bixler Syndrome 45 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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology10 DOID:0050462
MeSH36 D054882
Orphanet51 83
SNOMED-CT59 62964007
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C537780
UMLS via Orphanet66 C0265307
UMLS65 C1860042, C2350233, C2936791

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 phenotype, is related to antley-bixler syndrome without genital anomalies or disordered steroidogenesis and antley-bixler syndrome with genital anomalies and 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 FGF signaling pathway and Alzheimers Disease Pathway. Affiliated tissues include bone, eye and breast, and related mouse phenotypes are limbs/digits/tail and renal/urinary system.

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 66)
idRelated DiseaseScoreTop Affiliating Genes
1antley-bixler syndrome without genital anomalies or disordered steroidogenesis34.5FGFR1, FGFR2
2antley-bixler syndrome with genital anomalies and disordered steroidogenesis12.6
3cytochrome p450 oxidoreductase deficiency11.9
4disordered steroidogenesis due to cytochrome p450 oxidoreductase11.6
5bartter syndrome, type 211.3
6bartter syndrome, type 111.3
7synostosis10.6
8pfeiffer syndrome type 1, 2 and 310.6FGFR1, FGFR2
9plagiocephaly and x-linked mental retardation10.5FGFR1, FGFR2
10flna-related periventricular nodular heterotopia10.5FGFR1, FGFR2
11bladder cancer, somatic10.5FGFR1, FGFR2
12hypogonadotropic hypogonadism 2 with or without anosmia10.5FGFR1, FGFR2
13apert syndrome10.5FGFR1, FGFR2
14poland syndrome10.5FGFR1, FGFR2
15congenital adrenal hyperplasia10.5
16diverticulitis of colon10.5FGFR1, FGFR2
17spastic paraplegia 45, autosomal recessive10.5CYP17A1, POR
18crouzon syndrome with acanthosis nigricans10.5FGFR1, FGFR2
19thanatophoric dysplasia, type i10.5FGFR1, FGFR2
20luteoma10.4
21beare-stevenson cutis gyrata syndrome10.4FGFR1, FGFR2
22vulvovaginal candidiasis10.4FGFR1, FGFR2
23bone deterioration disease10.4FGFR1, FGFR2
24testicular spermatocytic seminoma10.3CYP19A1, CYP21A2
25thanatophoric dysplasia, type ii10.3FGFR1, FGFR2
26epilepsy, idiopathic generalized 1110.3CYP19A1, CYP21A2
27renal adenoma10.3CYP17A1, CYP21A2
28siberian tick typhus10.3CYP17A1, CYP19A1
29esophageal atresia10.3
30esophagitis10.3
31radioulnar synostosis10.3
32chiari malformation10.3
33functioning gonadotropic adenoma10.2CYB5A, CYP17A1
34mycobacterium abscessus10.2CYP17A1, CYP19A1
35progesterone-receptor negative breast cancer10.2CYP17A1, CYP19A1
36estrogen-receptor negative breast cancer10.1CYP19A1, FGFR2
37leukorrhea10.1CYP17A1, CYP19A1
38pfeiffer syndrome10.1POMC, POR
39clear cell renal cell carcinoma10.1CYP21A2, POMC
40spondylocostal dysostosis-anal and genitourinary malformations syndrome10.0CYP21A2, POMC
41craniosynostosis, type 110.0FGFR1, FGFR2
42sex differentiation disease10.0CYP19A1, FGFR1
43orbital granuloma10.0CYP21A2, POMC
44pericarditis10.0CYP21A2, POMC
45hereditary sensory neuropathy10.0CYP17A1, POMC
46adams-oliver syndrome 69.9CYP19A1, POMC
47basal cell carcinoma 79.9CYP17A1, CYP19A1, CYP21A2
48adrenal gland pheochromocytoma9.9CYP17A1, POMC
49post-transplant lymphoproliferative disease9.9CYP17A1, CYP19A1, CYP21A2
50sympathetic ophthalmia9.9CYP17A1, POMC

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 POR

Anatomical Context for Antley-Bixler Syndrome

About this section

MalaCards organs/tissues related to Antley-Bixler Syndrome:

33
Bone, Eye, Breast, Liver, Lung, Prostate, Myeloid

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:00053718.9CYP17A1, CYP51A1, FGFR1, FGFR2, POR
2MP:00053678.6CYP19A1, FGFR1, FGFR2, POMC, POR
3MP:00053698.6CYP19A1, CYP51A1, FGFR1, FGFR2, POR
4MP:00053708.3CYB5A, CYP19A1, FGFR2, POMC, POR
5MP:00053858.0CYP19A1, CYP51A1, FGFR1, FGFR2, POMC, POR
6MP:00053766.8CYB5A, CYP17A1, CYP19A1, CYP51A1, FGFR1, FGFR2

Publications for Antley-Bixler Syndrome

About this section

Articles related to Antley-Bixler Syndrome:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Multidisciplinary Treatment of Antley-Bixler Syndrome. (26752126)
2016
2
Gross Motor Function of a Child With Antley-Bixler Syndrome. (26397096)
2015
3
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
4
Anesthetic risks associated with antley-bixler syndrome. (23348324)
2013
5
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report. (24334858)
2013
6
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
7
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. (23295302)
2012
8
A case of antley-bixler syndrome. (24027687)
2012
9
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. (21146417)
2011
10
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. (21868813)
2011
11
Spectrum of Antley-Bixler syndrome. (20818252)
2010
12
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. (20124576)
2010
13
Foot anomalies in Antley-Bixler syndrome: three case reports. (19471176)
2008
14
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. (18455494)
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 and esophageal atresia in a patient with trisomy 21. (7774045)
1995
43
The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies. (7720741)
1995
44
Antley-Bixler syndrome: case report and review of the literature. (8588853)
1995
45
Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome? (8267929)
1993
46
The otolaryngologic manifestations of Antley-Bixler syndrome. (1848927)
1991
47
Antley-Bixler syndrome: description of two patients. (1896874)
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

About this section

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:

idSuper pathwaysScoreTop Affiliating Genes
19.7FGFR1, FGFR2
29.7FGFR1, FGFR2
39.7FGFR1, FGFR2
4
Show member pathways
9.4CYP17A1, CYP19A1
59.4CYP17A1, CYP19A1
6
Show member pathways
9.1CYP17A1, CYP19A1, CYP21A2
7
Show member pathways
8.5CYP17A1, CYP19A1, CYP21A2, POMC
8
Show member pathways
7.7CYP17A1, CYP19A1, CYP21A2, CYP51A1, POMC, POR
9
Show member pathways
6.9CYB5A, CYP17A1, CYP19A1, CYP21A2, CYP51A1, POMC
10
Show member pathways
6.9CYB5A, CYP17A1, CYP19A1, CYP21A2, CYP51A1, POMC

GO Terms for genes affiliated with Antley-Bixler Syndrome

About this section

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.2FGFR1, FGFR2
2positive regulation of steroid hormone biosynthetic processGO:009003110.2CYP17A1, POR
3lung-associated mesenchyme developmentGO:006048410.1FGFR1, FGFR2
4positive regulation of phospholipase activityGO:001051810.1FGFR1, FGFR2
5regulation of phosphatidylinositol 3-kinase signalingGO:001406610.0FGFR1, FGFR2
6phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.0FGFR1, FGFR2
7positive regulation of cell cycleGO:004578710.0FGFR1, FGFR2
8positive regulation of mesenchymal cell proliferationGO:00020539.9FGFR1, FGFR2
9positive regulation of cardiac muscle cell proliferationGO:00600459.9FGFR1, FGFR2
10skeletal system morphogenesisGO:00487059.8FGFR1, FGFR2
11branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, FGFR2
12progesterone metabolic processGO:00424489.8CYP17A1, CYP21A2
13orbitofrontal cortex developmentGO:00217699.7FGFR1, FGFR2
14sterol metabolic processGO:00161259.6CYP17A1, CYP21A2
15steroid biosynthetic processGO:00066948.8CYP17A1, CYP19A1, CYP21A2

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