MCID: ANT003
MIFTS: 51

Antley-Bixler Syndrome malady

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

Aliases & Classifications for Antley-Bixler Syndrome

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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

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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 kidney, 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

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

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1antley-bixler syndrome without genital anomalies or disordered steroidogenesis34.8FGFR1, FGFR2
2antley-bixler syndrome with genital anomalies and disordered steroidogenesis13.0
3disordered steroidogenesis due to cytochrome p450 oxidoreductase12.0
4cytochrome p450 oxidoreductase deficiency12.0
5bartter syndrome, type 211.7
6bartter syndrome, type 111.7
7pancreatitis10.8
8lung cancer10.7
9obesity10.6
10pancreatic cancer10.6
11adenocarcinoma10.6
12medulloblastoma10.5
13systemic lupus erythematosus10.5
14cystic fibrosis10.5
15insulin-like growth factor i10.5
16central core disease10.5
17cataract10.5
18cholangiocarcinoma10.5
19gastric cancer10.5
20keratoconus10.5
21leukemia10.5
22liver disease10.5
23myelofibrosis10.5
24neutropenia10.5
25aphasia10.5
26pontocerebellar hypoplasia10.5
27sensorineural hearing loss10.5
28opioid abuse10.5
29urethritis10.5
30hantavirus pulmonary syndrome10.5
31prostatitis10.5
32keratosis10.5
33pneumothorax10.5
34pancreatic endocrine carcinoma10.5
35melanoma10.5
36hyperinsulinism10.5
37protein s deficiency10.5
38psychotic disorder10.5
39prostate adenocarcinoma10.5
40dermatitis10.5
41antiphospholipid syndrome10.5
42cerebellopontine angle tumor10.5
43bacterial vaginosis10.5
44blood group incompatibility10.5
45ollier disease10.5
46multiple chemical sensitivity10.5
47intrahepatic cholangiocarcinoma10.5
48gerstmann syndrome10.5
49borna disease10.5
50thyroiditis10.5

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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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

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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 Syndrome22 POR

Anatomical Context for Antley-Bixler Syndrome

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MalaCards organs/tissues related to Antley-Bixler Syndrome:

33
Bone, Eye, Kidney, Liver, Neutrophil, Endothelial, Brain

Animal Models for Antley-Bixler Syndrome or affiliated genes

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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

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Articles related to Antley-Bixler Syndrome:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Exotropia Is the Main Pattern of Childhood Strabismus Surgery in the South of China: A Six-Year Clinical Review. (27022476)
2016
2
DNAJB1 destabilizes PDCD5 to suppress p53-mediated apoptosis. (25444898)
2015
3
Peroxiredoxin 2 is upregulated in colorectal cancer and contributes to colorectal cancer cells' survival by protecting cells from oxidative stress. (24234423)
2014
4
Immunohistochemical expression of CD117 and vascular endothelial growth factor in retinoblastoma: possible targets of new therapies. (25337214)
2014
5
Developmental regression, depression, and psychosocial stress in an adolescent with Down syndrome. (23572173)
2013
6
Hypothyroidism after primary radiotherapy for head and neck squamous cell carcinoma: Normal tissue complication probability modeling with latent time correction. (23891099)
2013
7
Atypical antipsychotics as a possible treatment option for irritable bowel syndrome. (23506326)
2013
8
Endoscopic management of duodenal adenomas in familial adenomatous polyposis--a single-center experience. (21960285)
2012
9
Airborne contact dermatitis to tetrazepam in geriatric nurses--a report of 10 cases. (21692868)
2012
10
Mycophenolate mofetil as a rescue therapy for autoimmune hepatitis patients who are not responsive to standard therapy. (21780898)
2011
11
Activation of tumor necrosis factor receptor-associated factor 6 in anti-I^2GPI/I^2GPI-induced tissue factor expression on THP-1 cells]. (21557901)
2011
12
Chromoblastomycosis: a clinical and molecular study of 18 cases in Rio de Janeiro, Brazil. (21781072)
2011
13
SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders. (21497654)
2011
14
Molecular cloning of a copper-dependent laccase from the dye-decolorizing strain Stenotrophomonas maltophilia AAP56. (21973274)
2011
15
Identical mutations in the paralogous human I^-globin genes leading to hemoglobin variants and nondeletional hereditary persistence of fetal hemoglobin. (21417570)
2011
16
Distinctive functions of p160 steroid receptor coactivators in proliferation of an estrogen-independent, tamoxifen-resistant breast cancer cell line. (21059860)
2011
17
The involvement of SMILE/TMTC3 in endoplasmic reticulum stress response. (21603654)
2011
18
West Nile virus: North American experience. (21910847)
2011
19
Effect of an FTO polymorphism on fat mass, obesity, and type 2 diabetes mellitus in the French MONICA Study. (19375760)
2009
20
An unusual presentation of mucous membrane pemphigoid. (18174805)
2008
21
Testicular seminoma presenting with duodenal perforation: a case report. (18782436)
2008
22
Activation-induced cytidine deaminase links bile duct inflammation to human cholangiocarcinoma. (18306229)
2008
23
Nitric oxide induces MUC5AC mucin in respiratory epithelial cells through PKC and ERK dependent pathways. (17391532)
2007
24
Herpes simplex virus and atopy in Finnish and Russian Karelian children. (17906091)
2007
25
DNA damage responses in neural cells: Focus on the telomere. (17207936)
2007
26
The inhibition of glyceraldehyde-3-phosphate dehydrogenase by nitroxyl (HNO). (17678614)
2007
27
Periosteal osteoblastoma: report of a case with a rare histopathologic presentation and review of the literature. (16868789)
2007
28
Comparative cytokeratin distribution patterns in cholesteatoma epithelium. (17128409)
2007
29
Diabetes insipidus, secondary hypoadrenalism and hypothyroidism after traumatic brain injury: clinical implications. (16508710)
2005
30
Association between apolipoprotein E polymorphism and Alzheimer disease in Tehran, Iran. (15664112)
2005
31
Differential effects of CpG-DNA in Toll-like receptor-2/-4/-9 tolerance and cross-tolerance. (16162269)
2005
32
The effects of SB 224289 on anxiety and cocaine-related behaviors in a novel object task. (15885246)
2005
33
Coccygodynia: evaluation and management. (14753797)
2004
34
Anti-beta 2-glycoprotein I, antiprothrombin antibodies, and the risk of thrombosis in the antiphospholipid syndrome. (12816875)
2003
35
Serine protease inhibitors inhibit superoxide release and adherence in human neutrophils stimulated by granulocyte-macrophage colony-stimulating factor and tumor necrosis factor-alpha. (12731668)
2003
36
Relationship of tobacco smoking with GSTM1 gene polymorphism in laringeal cancer. (14594555)
2003
37
Prostaglandin D2 inhibits the production of interleukin-12 in murine dendritic cells through multiple signaling pathways. (12672054)
2003
38
Increased incidence of antiphospholipid antibodies in left ventricular assist system recipients. (10421129)
1999
39
Effects of cysteinyl-leukotriene receptor antagonist, thromboxane A2 receptor antagonist, and thromboxane A2 synthetase inhibitor on antigen-induced bronchoconstriction in patients with asthma. (9792572)
1998
40
Azurophilic granules of human neutrophils contain CD14. (9353060)
1997
41
Erythrocyte membrane protein damage by oxidation products of phenylhydrazine. (7663379)
1995
42
Oleate and other long chain fatty acids stimulate low density lipoprotein receptor activity by enhancing acyl coenzyme A:cholesterol acyltransferase activity and altering intracellular regulatory cholesterol pools in cultured cells. (7730302)
1995
43
Linear lichen planus mimicking creeping eruption. (8478485)
1993
44
Glucocorticoid resistance in chronic asthma. Peripheral blood T lymphocyte activation and comparison of the T lymphocyte inhibitory effects of glucocorticoids and cyclosporin A. (1952427)
1991
45
Burn wound zygomycosis caused by Apophysomyces elegans. (2229400)
1990
46
A rabbit model of staphylococcal blepharitis. (3827720)
1987
47
Absence of immunoperoxidase staining for myoglobin in the malignant rhabdoid tumor of the kidney. (6093084)
1983
48
Morbidity and mortality from heroin dependence. 3. Relation of hepatitis to self-injection techniques. (5641436)
1968
49
CARRIERS OF OCULAR ALBINISM WITH AND WITHOUT OCULAR CHANGES. (14060100)
1963
50
Studies on commercial typhus vaccines. I. The antigenic constituents of commercial epidemic typhus vaccine. (14794908)
1950

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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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

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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

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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