MCID: ANT057
MIFTS: 37

Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis

Categories: Genetic diseases, Bone diseases, Fetal 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 53 28 13
Multisynostotic Osteodysgenesis with Long Bone Fractures 53 71
Trapezoidocephaly-Synostosis Syndrome 53 71
Abs2 53 71
Antley-Bixler Syndrome, Without Genital Anomalies or Disordered Steroidogenesis 71
Osteodysgenesis, Multisynostotic, with Fractures 53
Osteodysgenesis Multisynostotic with Fractures 71
Antley-Bixler Syndrome, Autosomal Dominant 69
Antley-Bixler Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
antley-bixler syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
antley-bixler syndrome without genital anomalies or disordered steroidogenesis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 207410
Orphanet 55 ORPHA83
MESH via Orphanet 42 C537780
UMLS via Orphanet 70 C0265307 C2936791
ICD10 via Orphanet 33 Q87.0
MedGen 39 C2936791
MeSH 41 D054882

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

OMIM : 53 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 multisynostotic osteodysgenesis with long bone fractures, is related to antley-bixler syndrome and bartter syndrome, type 2, antenatal, and has symptoms including frontal bossing, brachycephaly and long philtrum. An important gene associated with Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis is FGFR2 (Fibroblast Growth Factor Receptor 2). The drug Phytosterol has been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotype is limbs/digits/tail.

UniProtKB/Swiss-Prot : 71 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...

Diseases related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome 31.3 FGFR2 POR
2 bartter syndrome, type 2, antenatal 10.9
3 craniosynostosis 9.4 FGFR2 POR

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
frontal bossing
long philtrum
midface hypoplasia

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

Chest RibsSternum 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 fontanelle

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

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

55 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 55 31 Very frequent (99-80%) HP:0002007
2 brachycephaly 55 31 Very frequent (99-80%) HP:0000248
3 long philtrum 55 31 Occasional (29-5%) HP:0000343
4 narrow chest 55 31 Very frequent (99-80%) HP:0000774
5 arachnodactyly 55 31 Very frequent (99-80%) HP:0001166
6 choanal atresia 55 31 Frequent (79-30%) HP:0000453
7 proptosis 55 31 Frequent (79-30%) HP:0000520
8 narrow pelvis bone 55 31 Very frequent (99-80%) HP:0003275
9 abnormal renal morphology 55 31 Frequent (79-30%) HP:0012210
10 femoral bowing 55 31 Very frequent (99-80%) HP:0002980
11 joint stiffness 55 Very frequent (99-80%)
12 malar flattening 31 HP:0000272
13 hypertelorism 55 Occasional (29-5%)
14 hydrocephalus 31 HP:0000238
15 intellectual disability 31 HP:0001249
16 depressed nasal bridge 31 HP:0005280
17 short nose 55 Very frequent (99-80%)
18 anteverted nares 55 Very frequent (99-80%)
19 cleft palate 55 Occasional (29-5%)
20 malformation of the heart and great vessels 55 Very frequent (99-80%)
21 strabismus 55 Occasional (29-5%)
22 atrial septal defect 31 HP:0001631
23 abnormality of the pinna 31 HP:0000377
24 coronal craniosynostosis 31 HP:0004440
25 low-set, posteriorly rotated ears 55 Very frequent (99-80%)
26 downslanted palpebral fissures 55 Occasional (29-5%)
27 narrow mouth 55 Occasional (29-5%)
28 turricephaly 55 Occasional (29-5%)
29 abnormality of the ribs 55 Very frequent (99-80%)
30 recurrent fractures 55 Occasional (29-5%)
31 cheekbone underdevelopment 55 Very frequent (99-80%)
32 midface retrusion 31 HP:0011800
33 wide anterior fontanel 31 HP:0000260
34 craniosynostosis 55 Frequent (79-30%)
35 camptodactyly of finger 55 Very frequent (99-80%)
36 stenosis of the external auditory canal 31 HP:0000402
37 talipes 55 Occasional (29-5%)
38 hypoplastic labia majora 31 HP:0000059
39 underdeveloped supraorbital ridges 55 Occasional (29-5%)
40 choanal stenosis 31 HP:0000452
41 rocker bottom foot 31 HP:0001838
42 delayed cranial suture closure 55 Very frequent (99-80%)
43 upper airway obstruction 31 HP:0002781
44 camptodactyly 31 HP:0012385
45 ulnar bowing 31 HP:0003031
46 elbow ankylosis 55 Very frequent (99-80%)
47 vaginal atresia 31 HP:0000148
48 humeroradial synostosis 31 HP:0003041
49 fused labia minora 31 HP:0000063
50 lambdoidal craniosynostosis 31 HP:0004443

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

43
# 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...

Drugs for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Phytosterol Nutraceutical

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 28 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:

38
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 80)
# Title Authors Year
1
A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene. ( 28841001 )
2017
2
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype. ( 27496950 )
2016
3
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
4
Multidisciplinary Treatment of Antley-Bixler Syndrome. ( 26752126 )
2016
5
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. ( 27410456 )
2016
6
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency. ( 26670660 )
2015
7
Gross Motor Function of a Child With Antley-Bixler Syndrome. ( 26397096 )
2015
8
Anesthetic risks associated with antley-bixler syndrome. ( 23348324 )
2013
9
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report. ( 24334858 )
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
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
13
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. ( 23295302 )
2012
14
Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. ( 21705796 )
2011
15
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. ( 21868813 )
2011
16
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. ( 21146417 )
2011
17
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. ( 20124576 )
2010
18
Spectrum of Antley-Bixler syndrome. ( 20818252 )
2010
19
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. ( 19618668 )
2009
20
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. ( 18853185 )
2009
21
Did Akhenaten have the Antley-Bixler syndrome? ( 20008767 )
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
Otologic findings in Antley-Bixler syndrome: a clinical and radiologic case report. ( 17482285 )
2007
27
Anesthesia for an infant with Antley-Bixler syndrome. ( 17474961 )
2007
28
P450 oxidoreductase deficiency and Antley-Bixler syndrome. ( 17960482 )
2007
29
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. ( 16906539 )
2006
30
Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. ( 16998238 )
2006
31
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. ( 16470797 )
2006
32
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
33
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. ( 15793702 )
2005
34
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. ( 15264278 )
2004
35
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. ( 15266606 )
2004
36
Correction of facial deformity using a Red III device in a patient with Antley-Bixler syndrome. ( 15547402 )
2004
37
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
38
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. ( 15216541 )
2004
39
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase. ( 15491389 )
2004
40
A case of Antley-Bixler syndrome with severe skeletal Cl. III malocclusion. ( 15536859 )
2004
41
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. ( 14758361 )
2004
42
Antley-Bixler syndrome with radioulnar synostosis. ( 14513299 )
2004
43
Antley-Bixler syndrome: correction of facial deformities and long-term survival. ( 12618604 )
2003
44
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. ( 12116245 )
2002
45
Antley-Bixler syndrome, description of two new cases and review of the literature. ( 11275784 )
2001
46
The Antley-Bixler syndrome: two new cases. ( 11832641 )
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
Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. ( 11430730 )
2001
50
Antley-Bixler syndrome associated with Arnold-Chiari malformation. ( 10914975 )
2000

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:

71
# 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> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
3 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh37 Chromosome 10, 123276865: 123276865

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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