MCID: ANT003
MIFTS: 50

Antley-Bixler Syndrome

Categories: Bone diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Antley-Bixler Syndrome

MalaCards integrated aliases for Antley-Bixler Syndrome:

Name: Antley-Bixler Syndrome 12 73 36 29 54 15
Trapezoidocephaly Synostosis Syndrome 20 6
Multisynostotic Osteodysgenesis with Long Bone Fractures 20
Osteodysgenesis, Multisynostotic with Fractures 20
Antley-Bixler Syndrome, Autosomal Dominant 70
Trapezoidocephaly-Synostosis Syndrome 12
Antley-Bixler Syndrome Phenotype 70
Antley Bixler Syndrome 20

Classifications:



Summaries for Antley-Bixler Syndrome

KEGG : 36 Antley-Bixler syndrome (ABS) is a rare craniosynostosis syndrome characterized by radiohumeral synostosis. There is a wide spectrum of anomalies seen in ABS. Other features include midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Two genetically distinctive forms have been observed. Type 1 ABS involves mutations in the FGFR2 gene without impairment of steroidogenesis. Type 1 ABS patients are with the most severe skeletal abnormalities but normal genitalia. Type 2 ABS involves mutations in the gene encoding cytochrome P450 oxidoreductase (POR), an enzyme which plays a direct role in steroidogenesis. Type 2 ABS is an autosomal recessive disorder, and it is associated with abnormal genitalia in both sexes due to impaired steroidogenesis. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age.

MalaCards based summary : Antley-Bixler Syndrome, also known as trapezoidocephaly synostosis syndrome, is related to antley-bixler syndrome without genital anomalies or disordered steroidogenesis and cytochrome p450 oxidoreductase deficiency. An important gene associated with Antley-Bixler Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Affiliated tissues include bone, ovary and cortex, and related phenotypes are frontal bossing and joint stiffness

Disease Ontology : 12 A syndrome 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.

GARD : 20 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.

Wikipedia : 73 Antley-Bixler syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by... more...

Related Diseases for Antley-Bixler Syndrome

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

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 33.4 POR FGFR2
2 cytochrome p450 oxidoreductase deficiency 32.4 POR POMC FGFR2 CYP21A2 CYP1A2 CYP17A1
3 synostosis 31.6 POR FGFR3 FGFR2 FGFR1
4 craniosynostosis 31.0 POR FGFRL1 FGFR3 FGFR2 FGFR1
5 pfeiffer syndrome 30.9 FGFR3 FGFR2 FGFR1
6 luteoma 30.5 FGFR3 FGFR2 CYP21A2 CYP19A1
7 jackson-weiss syndrome 30.5 FGFR3 FGFR2 FGFR1
8 humeroradial synostosis 30.5 SQLE POR FGFR2 CYB5A
9 lipoid congenital adrenal hyperplasia 30.5 POR POMC CYP21A2 CYP19A1 CYP17A1 CYP11A1
10 familial glucocorticoid deficiency 30.4 POR POMC CYP21A2 CYP17A1 CYP11A1
11 crouzon syndrome 30.4 POR FGFR3 FGFR2 FGFR1
12 bone disease 30.2 FGFR3 FGFR2 FGFR1 CYP19A1
13 amenorrhea 30.2 POR POMC CYP19A1 CYP17A1
14 radioulnar synostosis 30.1 POR FGFRL1 FGFR3 FGFR2 FGFR1
15 dysostosis 29.9 FGFR3 FGFR2 FGFR1
16 hyperandrogenism 29.9 POMC CYP21A2 CYP19A1 CYP17A1 CYP11A1
17 cryptorchidism, unilateral or bilateral 29.9 POMC FGFR1 CYP19A1 CYP17A1 CYP11A1
18 osteochondrodysplasia 29.8 POR FGFR3 FGFR2 FGFR1 EBP CYP17A1
19 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 12.0
20 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 11.8
21 bartter syndrome, type 2, antenatal 11.3
22 bartter syndrome, type 1, antenatal 11.3
23 antley-bixler syndrome without genital anomaly or disorder of steroidogenesis 11.3
24 choanal atresia, posterior 10.6
25 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.6
26 exophthalmos 10.6
27 brittle bone disorder 10.4
28 anus, imperforate 10.4
29 clubfoot 10.4
30 hemifacial hyperplasia 10.3 FGFR3 FGFR2
31 trigonocephaly 1 10.3
32 chiari malformation type ii 10.3
33 aromatase deficiency 10.3
34 autosomal recessive disease 10.3
35 hydrocephalus 10.3
36 ankylosis 10.3
37 chiari malformation 10.3
38 isolated trigonocephaly 10.3
39 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
40 dacryocystocele 10.3 FGFR3 FGFR2
41 chronic inflammation of lacrimal passage 10.3 FGFR3 FGFR2
42 mammographic density 10.3 CYP19A1 CYP17A1
43 synovial chondromatosis 10.3 FGFR3 FGFR1
44 alopecia, androgenetic, 1 10.3 CYP21A2 CYP19A1
45 fgfr craniosynostosis syndromes 10.2 FGFR3 FGFR2 FGFR1
46 plagiocephaly 10.2 FGFR3 FGFR2 FGFR1
47 waterhouse-friderichsen syndrome 10.2 POMC CYP21A2
48 hepatocellular clear cell carcinoma 10.2 FGFR2 FGFR1
49 syndromic craniosynostosis 10.2 FGFR3 FGFR2 FGFR1
50 hypertelorism, microtia, facial clefting syndrome 10.2 FGFR3 FGFR2 FGFR1

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



Diseases related to Antley-Bixler Syndrome

Symptoms & Phenotypes for Antley-Bixler Syndrome

Human phenotypes related to Antley-Bixler Syndrome:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 hallmark (90%) HP:0002007
2 joint stiffness 31 hallmark (90%) HP:0001387
3 short nose 31 hallmark (90%) HP:0003196
4 anteverted nares 31 hallmark (90%) HP:0000463
5 brachycephaly 31 hallmark (90%) HP:0000248
6 arachnodactyly 31 hallmark (90%) HP:0001166
7 low-set, posteriorly rotated ears 31 hallmark (90%) HP:0000368
8 abnormality of the ribs 31 hallmark (90%) HP:0000772
9 hypoplasia of the zygomatic bone 31 hallmark (90%) HP:0010669
10 narrow chest 31 hallmark (90%) HP:0000774
11 camptodactyly of finger 31 hallmark (90%) HP:0100490
12 delayed cranial suture closure 31 hallmark (90%) HP:0000270
13 narrow pelvis bone 31 hallmark (90%) HP:0003275
14 abnormality of cardiovascular system morphology 31 hallmark (90%) HP:0030680
15 femoral bowing 31 hallmark (90%) HP:0002980
16 elbow ankylosis 31 hallmark (90%) HP:0003070
17 choanal atresia 31 frequent (33%) HP:0000453
18 proptosis 31 frequent (33%) HP:0000520
19 craniosynostosis 31 frequent (33%) HP:0001363
20 abnormal renal morphology 31 frequent (33%) HP:0012210
21 hypertelorism 31 occasional (7.5%) HP:0000316
22 strabismus 31 occasional (7.5%) HP:0000486
23 cleft palate 31 occasional (7.5%) HP:0000175
24 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
25 narrow mouth 31 occasional (7.5%) HP:0000160
26 talipes 31 occasional (7.5%) HP:0001883
27 long philtrum 31 occasional (7.5%) HP:0000343
28 recurrent fractures 31 occasional (7.5%) HP:0002757
29 turricephaly 31 occasional (7.5%) HP:0000262
30 underdeveloped supraorbital ridges 31 occasional (7.5%) HP:0009891

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.28 CYP19A1 MSMO1
2 Decreased shRNA abundance GR00251-A-2 9.28 CYP19A1 MSMO1
3 Decreased shRNA abundance GR00297-A 9.28 CYCS CYP19A1 EBP MSMO1 SQLE

MGI Mouse Phenotypes related to Antley-Bixler Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.37 CYCS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP21A2
2 growth/size/body region MP:0005378 10.34 CYCS CYP11A1 CYP17A1 CYP19A1 CYP21A2 CYP51A1
3 cardiovascular system MP:0005385 10.25 CYCS CYP11A1 CYP17A1 CYP19A1 CYP51A1 FGFR1
4 cellular MP:0005384 10.24 CYCS CYP11A1 CYP17A1 CYP19A1 FGFR1 FGFR2
5 homeostasis/metabolism MP:0005376 10.23 CYB5A CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP51A1
6 hematopoietic system MP:0005397 10.18 CYCS CYP11A1 CYP19A1 CYP21A2 EBP FGFR1
7 mortality/aging MP:0010768 10.17 CYCS CYP11A1 CYP17A1 CYP1A2 CYP21A2 CYP51A1
8 craniofacial MP:0005382 10.13 CYCS CYP51A1 FGFR1 FGFR2 FGFR3 FGFRL1
9 immune system MP:0005387 10.13 CYCS CYP11A1 CYP19A1 CYP21A2 CYP51A1 FGFR1
10 endocrine/exocrine gland MP:0005379 10.11 CYCS CYP11A1 CYP19A1 CYP1A2 FGFR1 FGFR2
11 integument MP:0010771 10.01 CYP19A1 CYP21A2 EBP FGFR1 FGFR2 FGFR3
12 liver/biliary system MP:0005370 9.91 CYB5A CYP11A1 CYP19A1 CYP1A2 FGFR2 POMC
13 muscle MP:0005369 9.8 CYP11A1 CYP19A1 CYP51A1 FGFR1 FGFR2 FGFRL1
14 no phenotypic analysis MP:0003012 9.63 CYP1A2 CYP51A1 FGFR1 FGFR2 FGFR3 POMC
15 renal/urinary system MP:0005367 9.5 CYP19A1 FGFR1 FGFR2 FGFR3 FGFRL1 POMC
16 skeleton MP:0005390 9.32 CYCS CYP11A1 CYP17A1 CYP19A1 CYP51A1 FGFR1

Drugs & Therapeutics for Antley-Bixler Syndrome

Search Clinical Trials , NIH Clinical Center for Antley-Bixler Syndrome

Genetic Tests for Antley-Bixler Syndrome

Genetic tests related to Antley-Bixler Syndrome:

# Genetic test Affiliating Genes
1 Antley-Bixler Syndrome 29

Anatomical Context for Antley-Bixler Syndrome

MalaCards organs/tissues related to Antley-Bixler Syndrome:

40
Bone, Ovary, Cortex, Spinal Cord, Adrenal Gland, Adrenal Cortex

Publications for Antley-Bixler Syndrome

Articles related to Antley-Bixler Syndrome:

(show top 50) (show all 141)
# Title Authors PMID Year
1
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 54 6 61
9605588 1998
2
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 6 61
10633130 2000
3
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 61 6
10406670 1999
4
Patient described by Chun et al. may not present Antley-Bixler syndrome. 6 61
10076886 1999
5
Not Antley-Bixler syndrome. 6 61
10076887 1999
6
FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 6
26362256 2015
7
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. 6
15996217 2005
8
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. 6
9714439 1998
9
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 6
9385368 1997
10
Type 3 Pfeiffer syndrome with normal thumbs. 6
8958319 1996
11
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 6
8528214 1995
12
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 6
7719345 1995
13
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 6
7987400 1994
14
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 6
8434615 1993
15
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. 61 54
20124576 2010
16
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. 61 54
18455494 2008
17
Genetic and clinical features of p450 oxidoreductase deficiency. 61 54
18259105 2008
18
[Antley-Bixler syndrome or POR deficiency?]. 54 61
18630181 2008
19
P450 oxidoreductase deficiency and Antley-Bixler syndrome. 54 61
17960482 2007
20
Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. 61 54
16998238 2006
21
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. 54 61
16906539 2006
22
P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia. 61 54
16915000 2006
23
Cytochromes P450--a family of proteins and scientists-understanding their relationships. 54 61
16684658 2006
24
P450 oxidoreductase deficiency: a new disorder of steroidogenesis. 61 54
16467261 2005
25
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 54 61
15793702 2005
26
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. 61 54
15483095 2005
27
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase. 61 54
15491389 2004
28
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. 54 61
15316970 2004
29
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. 54 61
15264278 2004
30
Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. 54 61
11430730 2001
31
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. 54 61
10664233 2000
32
Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene. 61
33631521 2021
33
Low-birth-weight infant with Antley-Bixler syndrome-like phenotype caused by POR mutation: a rare case report. 61
33336784 2020
34
Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review. 61
33123976 2020
35
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency. 61
32615689 2020
36
Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis. 61
32973886 2020
37
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children. 61
31888681 2019
38
[A case of Antley-Bixler syndrome caused by novel POR mutations]. 61
31598952 2019
39
RETRACTED ARTICLE: Fetal methotrexate syndrome and Antley-Bixler syndrome should not be confused. 61
29675757 2018
40
Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency. 61
32851239 2018
41
[Advance in clinical research on Antley-Bixler syndrome]. 61
29653011 2018
42
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. 61
28771243 2018
43
A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene. 61
28841001 2017
44
Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality. 61
28468151 2017
45
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review. 61
28288674 2017
46
Multidisciplinary Treatment of Antley-Bixler Syndrome. 61
26752126 2017
47
P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms. 61
27068427 2017
48
P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation. 61
27603900 2016
49
Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency. 61
27737328 2016
50
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype. 61
27496950 2016

Variations for Antley-Bixler Syndrome

ClinVar genetic disease variations for Antley-Bixler Syndrome:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR2 NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) SNV Pathogenic 13266 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
2 FGFR2 NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) SNV Pathogenic 13267 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
3 FGFR2 NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) SNV Pathogenic 13286 rs121918502 GRCh37: 10:123276865-123276865
GRCh38: 10:121517351-121517351
4 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic 478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
5 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic 13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
6 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
7 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic 13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
8 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic 449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
9 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic 13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
10 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic 13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
11 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic 13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
12 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Likely pathogenic 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
13 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Likely pathogenic 374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
14 FGFR2 NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln) SNV Uncertain significance 931219 GRCh37: 10:123244952-123244952
GRCh38: 10:121485438-121485438
15 FGFR2 NM_000141.5(FGFR2):c.2177C>G (p.Ala726Gly) SNV Uncertain significance 931843 GRCh37: 10:123244927-123244927
GRCh38: 10:121485413-121485413
16 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) SNV Uncertain significance 577711 rs199757302 GRCh37: 10:123276928-123276928
GRCh38: 10:121517414-121517414

Expression for Antley-Bixler Syndrome

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

Pathways for Antley-Bixler Syndrome

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 SQLE POR POMC MSMO1 EBP CYP51A1
2
Show member pathways
12.82 POR POMC CYP51A1 CYP21A2 CYP1A2 CYP19A1
3
Show member pathways
12.42 FGFRL1 FGFR3 FGFR2 FGFR1
4 12.37 CYP1A2 CYP19A1 CYP17A1 CYP11A1
5
Show member pathways
12.33 FGFRL1 FGFR3 FGFR2 FGFR1
6
Show member pathways
12.16 FGFRL1 FGFR3 FGFR2 FGFR1
7
Show member pathways
12.08 FGFRL1 FGFR3 FGFR2 FGFR1
8
Show member pathways
12.07 FGFRL1 FGFR3 FGFR2 FGFR1
9 11.94 FGFR3 FGFR2 FGFR1
10 11.75 FGFR3 FGFR2 FGFR1
11
Show member pathways
11.72 SQLE MSMO1 EBP CYP51A1
12 11.69 POMC CYP21A2 CYP11A1
13 11.66 FGFR3 FGFR2 FGFR1
14 11.55 FGFR3 FGFR2 FGFR1
15
Show member pathways
11.5 SQLE MSMO1 EBP CYP51A1
16
Show member pathways
11.39 CYP1A2 CYP19A1 CYP17A1
17 11.34 CYP19A1 CYP17A1 CYP11A1
18 11.26 FGFR3 FGFR2 FGFR1
19
Show member pathways
11.26 POMC CYP21A2 CYP19A1 CYP17A1 CYP11A1
20 11.21 FGFR3 FGFR2 FGFR1
21
Show member pathways
10.92 CYP21A2 CYP17A1
22
Show member pathways
10.85 CYP21A2 CYP1A2 CYP19A1 CYP17A1 CYP11A1

GO Terms for Antley-Bixler Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.2 SQLE POR MSMO1 FGFRL1 FGFR3 FGFR2
2 endoplasmic reticulum GO:0005783 9.9 SQLE POR MSMO1 FGFR3 EBP CYP51A1
3 intracellular membrane-bounded organelle GO:0043231 9.86 SQLE POR CYP51A1 CYP21A2 CYP1A2 CYP19A1
4 endoplasmic reticulum membrane GO:0005789 9.65 SQLE POR MSMO1 EBP CYP51A1 CYP21A2
5 organelle membrane GO:0031090 9.17 SQLE CYP51A1 CYP21A2 CYP1A2 CYP19A1 CYP17A1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.96 MSMO1 EBP CYP51A1 CYP1A2 CYP11A1
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.8 FGFRL1 FGFR3 FGFR2 FGFR1
3 cholesterol metabolic process GO:0008203 9.8 SQLE MSMO1 EBP CYP51A1 CYP1A2 CYP11A1
4 skeletal system development GO:0001501 9.78 FGFR3 FGFR1 EBP
5 peptidyl-tyrosine phosphorylation GO:0018108 9.77 FGFR3 FGFR2 FGFR1
6 electron transport chain GO:0022900 9.77 POR CYP1A2 CYP19A1 CYCS CYB5A
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.76 FGFR3 FGFR2 FGFR1
8 positive regulation of MAPK cascade GO:0043410 9.75 FGFR3 FGFR2 FGFR1
9 cholesterol biosynthetic process GO:0006695 9.73 SQLE MSMO1 EBP CYP51A1
10 positive regulation of kinase activity GO:0033674 9.71 FGFR3 FGFR2 FGFR1
11 sterol biosynthetic process GO:0016126 9.71 SQLE MSMO1 EBP CYP51A1
12 steroid metabolic process GO:0008202 9.7 MSMO1 EBP CYP51A1 CYP21A2 CYP1A2 CYP17A1
13 oxidation-reduction process GO:0055114 9.7 SQLE POR MSMO1 CYP51A1 CYP21A2 CYP1A2
14 positive regulation of phospholipase activity GO:0010518 9.65 FGFR3 FGFR2 FGFR1
15 sterol metabolic process GO:0016125 9.65 EBP CYP51A1 CYP21A2 CYP19A1 CYP11A1
16 glucocorticoid biosynthetic process GO:0006704 9.63 CYP21A2 CYP17A1 CYP11A1
17 cellular response to peptide hormone stimulus GO:0071375 9.59 POR CYP11A1
18 cellular respiration GO:0045333 9.57 CYP1A2 CYCS
19 endochondral bone growth GO:0003416 9.55 FGFR3 FGFR2
20 demethylation GO:0070988 9.52 POR CYP51A1
21 cellular aromatic compound metabolic process GO:0006725 9.51 SQLE CYP1A2
22 steroid biosynthetic process GO:0006694 9.17 MSMO1 EBP CYP51A1 CYP21A2 CYP19A1 CYP17A1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 10.02 SQLE POR MSMO1 CYP51A1 CYP21A2 CYP1A2
2 electron transfer activity GO:0009055 9.83 POR CYP1A2 CYP19A1 CYCS CYB5A
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.8 CYP51A1 CYP21A2 CYP1A2 CYP19A1 CYP17A1 CYP11A1
4 fibroblast growth factor binding GO:0017134 9.71 FGFRL1 FGFR3 FGFR2 FGFR1
5 iron ion binding GO:0005506 9.7 MSMO1 CYP51A1 CYP21A2 CYP1A2 CYP19A1 CYP17A1
6 protein tyrosine kinase activity GO:0004713 9.65 FGFR3 FGFR2 FGFR1
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.63 FGFR3 FGFR2 FGFR1
8 fibroblast growth factor-activated receptor activity GO:0005007 9.56 FGFRL1 FGFR3 FGFR2 FGFR1
9 monooxygenase activity GO:0004497 9.5 SQLE CYP51A1 CYP21A2 CYP1A2 CYP19A1 CYP17A1
10 heme binding GO:0020037 9.23 CYP51A1 CYP21A2 CYP1A2 CYP19A1 CYP17A1 CYP11A1

Sources for Antley-Bixler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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