MCID: ANT003
MIFTS: 57

Antley-Bixler Syndrome malady

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

Summaries for Antley-Bixler Syndrome

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Disease Ontology:9 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.

MalaCards based summary: Antley-Bixler Syndrome, also known as antley bixler syndrome, is related to cytochrome p450 oxidoreductase deficiency and synostosis, and has symptoms including low-set, posteriorly rotated ears, anteverted nares and abnormality of the ribs. An important gene associated with Antley-Bixler Syndrome is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are Alzheimers Disease Pathway and Signaling by FGFR1 mutants. The compounds pcb 126 and dimethylnitrosamine have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related mouse phenotypes are limbs/digits/tail and muscle.

Aliases & Classifications for Antley-Bixler Syndrome

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Antley-Bixler Syndrome, Aliases & Descriptions:

Name: Antley-Bixler Syndrome 9 41 11 43 47
Antley Bixler Syndrome 41 20 22
Multisynostotic Osteodysgenesis with Long Bone Fractures 41
Osteodysgenesis, Multisynostotic with Fractures 41
 
Antley-Bixler Syndrome, Autosomal Dominant 60
Trapezoidocephaly-Synostosis Syndrome 9
Trapezoidocephaly Synostosis Syndrome 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
antley-bixler syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile


External Ids:

Disease Ontology9 DOID:0050462
MeSH33 D054882
Orphanet47 83
MESH via Orphanet34 C537780
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet61 C0265307

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 75)
idRelated DiseaseScoreTop Affiliating Genes
1cytochrome p450 oxidoreductase deficiency31.9POR
2synostosis31.6FGFR1, FGFR2
3congenital adrenal hyperplasia30.4POR, CYP17A1, CYP19A1, CYP21A2, POMC
4antley-bixler syndrome with genital anomalies and disordered steroidogenesis10.7
5antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.7
6osteoglophonic dysplasia10.5FGFR1
7luteoma10.5
8achondroplasia10.5FGFR2
9aromatase excess syndrome10.5CYP19A1
10fgfr-related craniosynostosis syndromes10.4FGFR2, FGFR1
11jackson-weiss syndrome10.4FGFR2, FGFR1
12muenke syndrome10.4FGFR2, FGFR1
13pfeiffer syndrome10.4FGFR1, FGFR2
14crouzon syndrome10.4FGFR2, FGFR1
15apert syndrome10.4FGFR2, FGFR1
16hypochondroplasia10.4FGFR1, FGFR2
17disordered steroidogenesis due to cytochrome p450 oxidoreductase10.4
18radioulnar synostosis10.4
19esophageal atresia10.4
20esophagitis10.4
21chiari malformation10.4
22acrocephalosyndactylia10.4FGFR1, FGFR2
23saethre-chotzen syndrome10.4FGFR2, FGFR1
24acanthosis nigricans10.3CYP21A2, FGFR2
25alopecia, androgenetic, 110.3CYP21A2, CYP19A1
26anovulation10.3CYP19A1, CYP21A2
27hypoadrenalism10.3POMC
28pseudohermaphroditism10.3CYP17A1, CYP19A1
29dwarfism10.3FGFR2, FGFR1
30craniosynostosis10.3POR, FGFR2, FGFR1
31adrenal carcinoma10.3POMC
32gynecomastia10.2CYP19A1, CYP17A1
33amenorrhea10.2POMC
34prostatic hypertrophy10.2FGFR1, FGFR2, CYP17A1
35hypospadias10.2CYP21A2, CYP17A1, FGFR2
36klinefelter's syndrome10.2FGFR1, CYP21A2, CYP19A1
37cryptorchidism10.2FGFR1, CYP19A1
38polycystic ovary syndrome10.2CYP21A2, CYP19A1, CYP17A1
39uterine fibroid10.2CYP21A2, CYP19A1, CYP17A1
40acute adrenal insufficiency10.1POMC, CYP21A2
41oligomenorrhea10.1POMC, CYP21A2
42stomach cancer10.1FGFR1, FGFR2, POR
43skeletal dysplasia multi-gene panels10.1FGFR1, CYP17A1, POR, FGFR2
44male infertility10.1CYP19A1, CYP21A2
45adrenal gland hyperfunction10.1CYP21A2, POMC
46autoimmune polyendocrine syndrome type 110.1CYP21A2, CYP1A2, CYP17A1
47infertility10.1CYP19A1, CYP21A2, CYCS
48cushing's syndrome10.1POMC, CYP21A2
49hypopituitarism10.0CYP21A2, POMC
50hypokalemia10.0POMC, CYP17A1

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:

 47 (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

HPO human phenotypes related to Antley-Bixler Syndrome:

(show all 27)
id Description Frequency HPO Source Accession
1 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
2 anteverted nares hallmark (90%) HP:0000463
3 abnormality of the ribs hallmark (90%) HP:0000772
4 narrow chest hallmark (90%) HP:0000774
5 arachnodactyly hallmark (90%) HP:0001166
6 limitation of joint mobility hallmark (90%) HP:0001376
7 frontal bossing hallmark (90%) HP:0002007
8 malformation of the heart and great vessels hallmark (90%) HP:0002564
9 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
10 abnormality of the femur hallmark (90%) HP:0002823
11 humeroradial synostosis hallmark (90%) HP:0003041
12 short nose hallmark (90%) HP:0003196
13 cheekbone underdevelopment hallmark (90%) HP:0010669
14 camptodactyly of finger hallmark (90%) HP:0100490
15 abnormality of the urinary system typical (50%) HP:0000079
16 choanal atresia typical (50%) HP:0000453
17 proptosis typical (50%) HP:0000520
18 craniosynostosis typical (50%) HP:0001363
19 narrow mouth occasional (7.5%) HP:0000160
20 cleft palate occasional (7.5%) HP:0000175
21 hypertelorism occasional (7.5%) HP:0000316
22 long philtrum occasional (7.5%) HP:0000343
23 strabismus occasional (7.5%) HP:0000486
24 downslanted palpebral fissures occasional (7.5%) HP:0000494
25 talipes occasional (7.5%) HP:0001883
26 recurrent fractures occasional (7.5%) HP:0002757
27 underdeveloped supraorbital ridges occasional (7.5%) HP:0009891

Drugs & Therapeutics for Antley-Bixler Syndrome

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Drug clinical trials:

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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 Syndrome20 22

Anatomical Context for Antley-Bixler Syndrome

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MalaCards organs/tissues related to Antley-Bixler Syndrome:

31
Bone, Heart, Kidney

Animal Models for Antley-Bixler Syndrome or affiliated genes

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Publications for Antley-Bixler Syndrome

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Articles related to Antley-Bixler Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
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
2
Anesthetic risks associated with antley-bixler syndrome. (23348324)
2013
3
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report. (24334858)
2013
4
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
5
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. (23295302)
2012
6
A case of antley-bixler syndrome. (24027687)
2012
7
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. (21146417)
2011
8
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. (21868813)
2011
9
Spectrum of Antley-Bixler syndrome. (20818252)
2010
10
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. (20124576)
2010
11
Foot anomalies in Antley-Bixler syndrome: three case reports. (19471176)
2008
12
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. (18455494)
2008
13
Antley-Bixler syndrome or POR deficiency?]. (18630181)
2008
14
Anesthesia for an infant with Antley-Bixler syndrome. (17474961)
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
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
18
A case of Antley-Bixler syndrome with severe skeletal Cl. III malocclusion. (15536859)
2004
19
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. (15266606)
2004
20
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (14758361)
2004
21
Correction of facial deformity using a Red III device in a patient with Antley-Bixler syndrome. (15547402)
2004
22
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
23
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (15264278)
2004
24
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. (12116245)
2002
25
Antley-Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity. (11453978)
2001
26
Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. (11430730)
2001
27
The Antley-Bixler syndrome: two new cases. (11832641)
2001
28
Antley-Bixler syndrome: report of a case. (11149533)
2001
29
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. (10664233)
2000
30
Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome. (10726707)
2000
31
Antley-Bixler syndrome associated with Arnold-Chiari malformation. (10914975)
2000
32
Musculoskeletal manifestations of the Antley-Bixler syndrome. (10218180)
1999
33
Not Antley-Bixler syndrome. (10076887)
1999
34
Patient described by Chun et al. may not present Antley-Bixler syndrome. (10076886)
1999
35
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. (9605588)
1998
36
The Antley-Bixler syndrome. A new case without radiohumeral synostosis. (9664207)
1998
37
Antley-Bixler syndrome: a case report and discussion. (9483606)
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. (9001819)
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

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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:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9FGFR2, FGFR1
2
Show member pathways
9.9FGFR2, FGFR1
39.9FGFR1, FGFR2
4
Show member pathways
estradiol biosynthesis II36
androgen biosynthesis36
estradiol biosynthesis I36
progesterone biosynthesis36
9.7CYP17A1, CYP19A1
5
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)36
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA36
tryptophan degradation36
glutaryl-CoA degradation36
serotonin degradation36
NAD de novo biosynthesis36
superpathway of melatonin degradation36
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde36
tryptophan utilization I36
melatonin degradation I36
9.6POR, CYP1A2
6
Show member pathways
9.4CYP1A2, CYP19A1
79.3CYCS, FGFR2, FGFR1
8
Show member pathways
9.1POMC, CYCS
9
Show member pathways
Estrogen biosynthesis58
Androstenedione and testosterone biosynthesis and metabolism p.158
9.1CYP17A1, CYP1A2, CYP19A1
10
Show member pathways
9.0FGFR1, POMC, FGFR2
11
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
8.7CYP19A1, CYP17A1, CYP21A2, CYP1A2
12
Show member pathways
8.5POMC, CYP19A1, CYP21A2, CYP17A1
13
Show member pathways
7.4POMC, CYP51A1, CYP21A2, CYP19A1, CYP1A2, CYP17A1
14
Show member pathways
6.6CYP19A1, CYP51A1, CYP17A1, CYP1A2, CYP21A2, CYB5A
15
Show member pathways
6.4CYB5A, POMC, CYP51A1, CYP17A1, CYCS, CYP1A2

Compounds for genes affiliated with Antley-Bixler Syndrome

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

(show top 50)    (show all 219)
idCompoundScoreTop Affiliating Genes
1pcb 126439.7CYP21A2, CYP19A1, CYP17A1
2dimethylnitrosamine439.4CYP1A2, CYB5A, POR
37-ethoxycoumarin439.3CYP1A2, CYB5A, POR
421-deoxycortisol43 2410.3CYP17A1, CYP21A2, POMC
5ferricyanide439.3CYB5A, POR, CYCS
6benzphetamine43 1210.3CYB5A, CYP1A2, POR
7acth 1-24439.3POMC, CYP21A2, CYP17A1
8nafarelin43 59 28 1212.3CYP21A2, CYP19A1, POMC
911 deoxycortisol439.2POMC, CYP17A1, CYP21A2
10doca439.2CYP17A1, CYP21A2, POMC
11lauric acid43 2810.2POR, CYB5A, CYP1A2
12haem439.1CYCS, CYB5A, POR
13erythromycin43 2 49 1212.1CYP1A2, FGFR2, POR, CYB5A
14aminopyrine439.1CYB5A, POR, CYP17A1, CYP1A2
15chlorzoxazone43 28 1211.0POR, CYB5A, CYP1A2
16estrone43 28 24 1212.0CYP17A1, CYP19A1, POR, CYP1A2
17dihydrotestosterone43 28 24 1211.9CYP17A1, POR, CYP21A2, CYP19A1
18fluconazole43 129.9POR, CYP51A1, POMC, CYP19A1
19menadione43 24 1210.9POR, CYP1A2, CYB5A, CYCS
20metyrapone43 59 1210.8CYP1A2, POR, CYP21A2, POMC
21aflatoxin b143 249.7POR, CYP1A2, CYB5A
22nifedipine43 28 49 1211.7CYB5A, CYP17A1, CYP1A2, POR
23aminoglutethimide43 129.7CYP21A2, CYP19A1, CYP1A2, POMC
24pentoxyresorufin43 599.7CYP17A1, CYP1A2, CYP19A1, CYB5A, POR
25imidazole438.6CYP21A2, CYP19A1, CYCS, CYB5A, CYP51A1
26ribonucleic acid438.6CYP17A1, FGFR2, POMC, CYP21A2, FGFR1
27gnrh438.6CYP17A1, FGFR1, CYP19A1, CYP21A2, POMC
2817-hydroxypregnenolone438.6POR, POMC, CYB5A, CYP21A2, CYP17A1
29tamoxifen43 49 28 1211.5CYB5A, CYP19A1, CYP1A2, FGFR2, CYP17A1
30genistein43 28 59 2 24 1213.5FGFR1, FGFR2, CYP21A2, CYP19A1, CYP1A2, CYP17A1
31epinephrine43 24 1210.4FGFR2, POR, POMC, CYP21A2, CYP1A2
32dehydroepiandrosterone sulfate438.4POMC, CYP17A1, CYB5A, CYP21A2, CYP19A1
33NADP248.4CYP17A1, CYP1A2, CYP21A2, CYP51A1, CYP19A1, POR
3417-hydroxyprogesterone43 249.2POMC, CYB5A, CYP21A2, CYP19A1, POR, CYP17A1
353beta-hydroxysteroid438.1POMC, CYP17A1, CYP19A1, CYP21A2, CYB5A, POR
36dhea438.1CYP17A1, POMC, CYB5A, CYP21A2, POR, CYP19A1
37h2o2438.0CYCS, CYB5A, POR, FGFR2, FGFR1, POMC
38estradiol43 24 1210.0CYP21A2, CYP19A1, CYP1A2, CYP17A1, POMC
39ketoconazole43 28 24 1210.9CYP19A1, CYP17A1, CYP1A2, CYP51A1, CYP21A2, POMC
40dexamethasone43 49 28 1210.8CYP21A2, POR, CYP17A1, CYP1A2, CYP19A1, POMC
41arginine437.8CYP17A1, CYB5A, CYP21A2, POR, POMC, CYP19A1
42oxygen43 248.6CYP21A2, CYP19A1, CYP51A1, POR, CYP1A2, CYCS
43androstenedione43 248.5POR, POMC, CYB5A, CYP21A2, CYP19A1, CYP1A2
44estrogen437.4CYP19A1, CYP17A1, POR, FGFR2, FGFR1, POMC
45heme28 24 129.4CYP21A2, CYP17A1, CYCS, CYP1A2, CYP19A1, CYB5A
46serine437.4CYB5A, FGFR2, CYP21A2, POR, FGFR1, CYCS
47nadph43 248.4POR, CYP21A2, CYP51A1, CYCS, CYB5A, CYP19A1
48progesterone43 28 59 24 1211.2CYP21A2, CYP19A1, CYP1A2, CYP17A1, POMC, CYB5A
49steroid437.1CYP51A1, FGFR2, POR, POMC, CYB5A, CYP21A2
50testosterone43 59 24 129.9FGFR1, CYP19A1, CYP1A2, CYP21A2, CYB5A, POMC

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
1endoplasmic reticulum membraneGO:00057897.4POR, CYB5A, CYP21A2, CYP19A1, CYP1A2, CYP17A1

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.2FGFR2, FGFR1
2ventricular zone neuroblast divisionGO:002184710.2FGFR1, FGFR2
3positive regulation of phospholipase activityGO:001051810.1FGFR1, FGFR2
4mesenchymal cell differentiationGO:004876210.1FGFR1, FGFR2
5positive regulation of steroid hormone biosynthetic processGO:009003110.1CYP17A1, POR
6lung-associated mesenchyme developmentGO:006048410.1FGFR1, FGFR2
7branching involved in salivary gland morphogenesisGO:006044510.0FGFR1, FGFR2
8demethylationGO:007098810.0CYP51A1, POR
9positive regulation of cardiac muscle cell proliferationGO:006004510.0FGFR1, FGFR2
10glucocorticoid biosynthetic processGO:000670410.0CYP17A1, CYP21A2
11skeletal system morphogenesisGO:00487059.9FGFR1, FGFR2
12positive regulation of cell cycleGO:00457879.9FGFR2, FGFR1
13ureteric bud developmentGO:00016579.9FGFR1, FGFR2
14midbrain developmentGO:00309019.8FGFR1, FGFR2
15dibenzo-p-dioxin metabolic processGO:00188949.7CYP17A1, CYP1A2
16steroid metabolic processGO:00082029.6CYP21A2, CYP19A1, CYP17A1
17positive regulation of mesenchymal cell proliferationGO:00020539.6FGFR1, FGFR2
18steroid biosynthetic processGO:00066949.6CYP19A1, CYP17A1, CYP51A1
19cellular respirationGO:00453339.5CYCS, CYP1A2
20sterol metabolic processGO:00161259.2CYP21A2, CYP19A1, CYP17A1, CYP51A1
21xenobiotic metabolic processGO:00068058.6CYP51A1, CYP17A1, CYP1A2, CYP19A1, CYP21A2
22small molecule metabolic processGO:00442817.6CYP51A1, CYP17A1, CYCS, CYP1A2, CYP19A1, CYP21A2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:000500710.0FGFR2, FGFR1
2fibroblast growth factor bindingGO:00171349.9FGFR2, FGFR1
3oxygen bindingGO:00198259.7CYP19A1, CYP17A1
4oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygenGO:00167129.5CYP19A1, CYP1A2
5aromatase activityGO:00703309.3CYP19A1, CYP1A2
6electron carrier activityGO:00090559.3POR, CYP19A1, CYP1A2
7enzyme bindingGO:00198998.7POR, CYB5A, CYP1A2
8iron ion bindingGO:00055067.6CYP51A1, CYP17A1, CYCS, CYP1A2, CYP19A1, CYP21A2
9heme bindingGO:00200377.4CYB5A, CYP51A1, CYP17A1, CYCS, CYP1A2, CYP19A1

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Sources for Antley-Bixler Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
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61UMLS via Orphanet