ABS2
MCID: ANT057
MIFTS: 39

Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis (ABS2)

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

Aliases & Classifications for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

MalaCards integrated aliases for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

Name: Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 58 30 13 6
Antley-Bixler Syndrome, Without Genital Anomalies or Disordered Steroidogenesis 76 41
Multisynostotic Osteodysgenesis with Long Bone Fractures 58 76
Trapezoidocephaly-Synostosis Syndrome 58 76
Abs2 58 76
Osteodysgenesis, Multisynostotic, with Fractures 58
Osteodysgenesis Multisynostotic with Fractures 76
Antley-Bixler Syndrome, Autosomal Dominant 74
Antley-Bixler Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
antley-bixler syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
early death often due to respiratory complications
for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency


HPO:

33
antley-bixler syndrome without genital anomalies or disordered steroidogenesis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

OMIM : 58 The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. 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 (summary by McGlaughlin et al., 2010). (207410)

MalaCards based summary : Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis, also known as antley-bixler syndrome, without genital anomalies or disordered steroidogenesis, is related to antley-bixler syndrome and antley-bixler syndrome with genital anomalies and disordered steroidogenesis. An important gene associated with Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone and heart, and related phenotypes are frontal bossing and brachycephaly

UniProtKB/Swiss-Prot : 76 Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis: A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported.

Related Diseases for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

Graphical network of the top 20 diseases related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:



Diseases related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis

Symptoms & Phenotypes for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

Human phenotypes related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

60 33 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 Very frequent (99-80%) HP:0002007
2 brachycephaly 60 33 Very frequent (99-80%) HP:0000248
3 long philtrum 60 33 Occasional (29-5%) HP:0000343
4 narrow chest 60 33 Very frequent (99-80%) HP:0000774
5 arachnodactyly 60 33 Very frequent (99-80%) HP:0001166
6 choanal atresia 60 33 Frequent (79-30%) HP:0000453
7 proptosis 60 33 Frequent (79-30%) HP:0000520
8 narrow pelvis bone 60 33 Very frequent (99-80%) HP:0003275
9 abnormal renal morphology 60 33 Frequent (79-30%) HP:0012210
10 femoral bowing 60 33 Very frequent (99-80%) HP:0002980
11 malar flattening 33 HP:0000272
12 hypertelorism 60 Occasional (29-5%)
13 hydrocephalus 33 HP:0000238
14 intellectual disability 33 HP:0001249
15 depressed nasal bridge 33 HP:0005280
16 joint stiffness 60 Very frequent (99-80%)
17 short nose 60 Very frequent (99-80%)
18 anteverted nares 60 Very frequent (99-80%)
19 flexion contracture 33 HP:0001371
20 cleft palate 60 Occasional (29-5%)
21 malformation of the heart and great vessels 60 Very frequent (99-80%)
22 strabismus 60 Occasional (29-5%)
23 atrial septal defect 33 HP:0001631
24 abnormality of the pinna 33 HP:0000377
25 coronal craniosynostosis 33 HP:0004440
26 low-set, posteriorly rotated ears 60 Very frequent (99-80%)
27 downslanted palpebral fissures 60 Occasional (29-5%)
28 narrow mouth 60 Occasional (29-5%)
29 turricephaly 60 Occasional (29-5%)
30 abnormality of the ribs 60 Very frequent (99-80%)
31 recurrent fractures 60 Occasional (29-5%)
32 cheekbone underdevelopment 60 Very frequent (99-80%)
33 midface retrusion 33 HP:0011800
34 wide anterior fontanel 33 HP:0000260
35 craniosynostosis 60 Frequent (79-30%)
36 camptodactyly of finger 60 Very frequent (99-80%)
37 stenosis of the external auditory canal 33 HP:0000402
38 talipes 60 Occasional (29-5%)
39 hypoplastic labia majora 33 HP:0000059
40 underdeveloped supraorbital ridges 60 Occasional (29-5%)
41 choanal stenosis 33 HP:0000452
42 rocker bottom foot 33 HP:0001838
43 delayed cranial suture closure 60 Very frequent (99-80%)
44 upper airway obstruction 33 HP:0002781
45 camptodactyly 33 HP:0012385
46 ulnar bowing 33 HP:0003031
47 elbow ankylosis 60 Very frequent (99-80%)
48 humeroradial synostosis 33 HP:0003041
49 vaginal atresia 33 HP:0000148
50 fused labia minora 33 HP:0000063

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
long philtrum
midface hypoplasia

Head And Neck Nose:
depressed nasal bridge
choanal atresia or choanal stenosis

Chest Ribs Sternum Clavicles And Scapulae:
narrow chest

Skeletal Hands:
arachnodactyly
camptodactyly

Respiratory Airways:
upper airway obstruction

Head And Neck Ears:
dysplastic ears
stenotic external auditory canals

Skeletal Pelvis:
narrow pelvis

Neurologic Central Nervous System:
hydrocephalus
variable mental retardation

Head And Neck Head:
brachycephaly
large anterior fontanel

Cardiovascular Heart:
atrial septal defect

Head And Neck Eyes:
proptosis

Skeletal Limbs:
femoral bowing
ulnar bowing
joint contractures
radiohumeral synostosis
neonatal femoral fractures

Skeletal Feet:
rocker-bottom feet

Skeletal Skull:
craniosynostosis, coronal and lambdoidal

Clinical features from OMIM:

207410

MGI Mouse Phenotypes related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 FGFR2 POR

Drugs & Therapeutics for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202

Search NIH Clinical Center for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis

Genetic Tests for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

Genetic tests related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

# Genetic test Affiliating Genes
1 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 30 FGFR2 POR

Anatomical Context for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

MalaCards organs/tissues related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

42
Bone, Heart

Publications for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

Articles related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

(show top 50) (show all 83)
# Title Authors Year
1
RETRACTED ARTICLE: Fetal methotrexate syndrome and Antley-Bixler syndrome should not be confused. ( 29675757 )
2018
2
A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G&amp;gt;C) in the POR Gene. ( 28841001 )
2017
3
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype. ( 27496950 )
2016
4
Multidisciplinary Treatment of Antley-Bixler Syndrome. ( 26752126 )
2016
5
Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses. ( 26969897 )
2016
6
Gross Motor Function of a Child With Antley-Bixler Syndrome. ( 26397096 )
2015
7
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency. ( 26670660 )
2015
8
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report. ( 24334858 )
2013
9
Anesthetic risks associated with antley-bixler syndrome. ( 23348324 )
2013
10
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
11
A case of antley-bixler syndrome. ( 24027687 )
2012
12
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. ( 23295302 )
2012
13
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
14
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. ( 21146417 )
2011
15
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. ( 21868813 )
2011
16
Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. ( 21705796 )
2011
17
Spectrum of Antley-Bixler syndrome. ( 20818252 )
2010
18
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. ( 20124576 )
2010
19
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. ( 18853185 )
2009
20
Did Akhenaten have the Antley-Bixler syndrome? ( 20008767 )
2009
21
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. ( 19618668 )
2009
22
[Antley-Bixler syndrome or POR deficiency?]. ( 18630181 )
2008
23
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. ( 18455494 )
2008
24
Foot anomalies in Antley-Bixler syndrome: three case reports. ( 19471176 )
2008
25
Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report. ( 17429125 )
2007
26
P450 oxidoreductase deficiency and Antley-Bixler syndrome. ( 17960482 )
2007
27
Otologic findings in Antley-Bixler syndrome: a clinical and radiologic case report. ( 17482285 )
2007
28
Anesthesia for an infant with Antley-Bixler syndrome. ( 17474961 )
2007
29
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. ( 16906539 )
2006
30
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. ( 16470797 )
2006
31
Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. ( 16998238 )
2006
32
Use of the term &amp;quot;Antley-Bixler syndrome&amp;quot;: minimizing confusion. ( 16145814 )
2005
33
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. ( 15793702 )
2005
34
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
35
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. ( 15264278 )
2004
36
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. ( 15216541 )
2004
37
A case of Antley-Bixler syndrome with severe skeletal Cl. III malocclusion. ( 15536859 )
2004
38
Correction of facial deformity using a Red III device in a patient with Antley-Bixler syndrome. ( 15547402 )
2004
39
Antley-Bixler syndrome with radioulnar synostosis. ( 14513299 )
2004
40
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
41
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. ( 15266606 )
2004
42
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase. ( 15491389 )
2004
43
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. ( 14758361 )
2004
44
Antley-Bixler syndrome: correction of facial deformities and long-term survival. ( 12618604 )
2003
45
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. ( 12116245 )
2002
46
Antley-Bixler syndrome, description of two new cases and review of the literature. ( 11275784 )
2001
47
Antley-Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity. ( 11453978 )
2001
48
Antley-Bixler syndrome: report of a case. ( 11149533 )
2001
49
The Antley-Bixler syndrome: two new cases. ( 11832641 )
2001
50
Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. ( 11430730 )
2001

Variations for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

UniProtKB/Swiss-Prot genetic disease variations for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

76
# Symbol AA change Variation ID SNP ID
1 FGFR2 p.Cys342Arg VAR_004137 rs121918488
2 FGFR2 p.Cys342Ser VAR_004138 rs121918488
3 FGFR2 p.Ser351Cys VAR_004143 rs121918502

ClinVar genetic disease variations for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
2 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
3 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
4 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
5 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh37 Chromosome 10, 123276865: 123276865
6 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh38 Chromosome 10, 121517351: 121517351

Expression for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

Search GEO for disease gene expression data for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis.

Pathways for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

GO Terms for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

Cellular components related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 8.62 FGFR2 POR

Biological processes related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 8.32 POR

Sources for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

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