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 57 29 13 6
Antley-Bixler Syndrome, Without Genital Anomalies or Disordered Steroidogenesis 75 40
Multisynostotic Osteodysgenesis with Long Bone Fractures 57 75
Trapezoidocephaly-Synostosis Syndrome 57 75
Abs2 57 75
Osteodysgenesis, Multisynostotic, with Fractures 57
Osteodysgenesis Multisynostotic with Fractures 75
Antley-Bixler Syndrome, Autosomal Dominant 73
Antley-Bixler Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
antley-bixler syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
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:

32
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 : 57 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 bartter syndrome, type 2, antenatal. 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 phenotypes are brachycephaly and long philtrum

UniProtKB/Swiss-Prot : 75 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 31.4 FGFR2 POR
2 bartter syndrome, type 2, antenatal 10.9

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 59 32 Very frequent (99-80%) HP:0000248
2 long philtrum 59 32 Occasional (29-5%) HP:0000343
3 choanal atresia 59 32 Frequent (79-30%) HP:0000453
4 proptosis 59 32 Frequent (79-30%) HP:0000520
5 narrow chest 59 32 Very frequent (99-80%) HP:0000774
6 arachnodactyly 59 32 Very frequent (99-80%) HP:0001166
7 frontal bossing 59 32 Very frequent (99-80%) HP:0002007
8 femoral bowing 59 32 Very frequent (99-80%) HP:0002980
9 narrow pelvis bone 59 32 Very frequent (99-80%) HP:0003275
10 abnormal renal morphology 59 32 Frequent (79-30%) HP:0012210
11 narrow mouth 59 Occasional (29-5%)
12 cleft palate 59 Occasional (29-5%)
13 turricephaly 59 Occasional (29-5%)
14 delayed cranial suture closure 59 Very frequent (99-80%)
15 hypertelorism 59 Occasional (29-5%)
16 low-set, posteriorly rotated ears 59 Very frequent (99-80%)
17 anteverted nares 59 Very frequent (99-80%)
18 strabismus 59 Occasional (29-5%)
19 downslanted palpebral fissures 59 Occasional (29-5%)
20 abnormality of the ribs 59 Very frequent (99-80%)
21 craniosynostosis 59 Frequent (79-30%)
22 joint stiffness 59 Very frequent (99-80%)
23 talipes 59 Occasional (29-5%)
24 malformation of the heart and great vessels 59 Very frequent (99-80%)
25 recurrent fractures 59 Occasional (29-5%)
26 elbow ankylosis 59 Very frequent (99-80%)
27 short nose 59 Very frequent (99-80%)
28 underdeveloped supraorbital ridges 59 Occasional (29-5%)
29 cheekbone underdevelopment 59 Very frequent (99-80%)
30 camptodactyly of finger 59 Very frequent (99-80%)
31 hypoplastic labia majora 32 HP:0000059
32 fused labia minora 32 HP:0000063
33 vaginal atresia 32 HP:0000148
34 hydrocephalus 32 HP:0000238
35 wide anterior fontanel 32 HP:0000260
36 malar flattening 32 HP:0000272
37 abnormality of the pinna 32 HP:0000377
38 stenosis of the external auditory canal 32 HP:0000402
39 choanal stenosis 32 HP:0000452
40 intellectual disability 32 HP:0001249
41 flexion contracture 32 HP:0001371
42 atrial septal defect 32 HP:0001631
43 rocker bottom foot 32 HP:0001838
44 upper airway obstruction 32 HP:0002781
45 ulnar bowing 32 HP:0003031
46 humeroradial synostosis 32 HP:0003041
47 coronal craniosynostosis 32 HP:0004440
48 lambdoidal craniosynostosis 32 HP:0004443
49 depressed nasal bridge 32 HP:0005280
50 midface retrusion 32 HP:0011800

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

46
# 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 29 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:

41
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
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. ( 27410456 )
2016
4
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype. ( 27496950 )
2016
5
Multidisciplinary Treatment of Antley-Bixler Syndrome. ( 26752126 )
2016
6
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
7
Gross Motor Function of a Child With Antley-Bixler Syndrome. ( 26397096 )
2015
8
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency. ( 26670660 )
2015
9
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report. ( 24334858 )
2013
10
Anesthetic risks associated with antley-bixler syndrome. ( 23348324 )
2013
11
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
12
A case of antley-bixler syndrome. ( 24027687 )
2012
13
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. ( 23295302 )
2012
14
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
15
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. ( 21146417 )
2011
16
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. ( 21868813 )
2011
17
Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. ( 21705796 )
2011
18
Spectrum of Antley-Bixler syndrome. ( 20818252 )
2010
19
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. ( 20124576 )
2010
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
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. ( 19618668 )
2009
23
[Antley-Bixler syndrome or POR deficiency?]. ( 18630181 )
2008
24
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. ( 18455494 )
2008
25
Foot anomalies in Antley-Bixler syndrome: three case reports. ( 19471176 )
2008
26
Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report. ( 17429125 )
2007
27
P450 oxidoreductase deficiency and Antley-Bixler syndrome. ( 17960482 )
2007
28
Otologic findings in Antley-Bixler syndrome: a clinical and radiologic case report. ( 17482285 )
2007
29
Anesthesia for an infant with Antley-Bixler syndrome. ( 17474961 )
2007
30
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. ( 16906539 )
2006
31
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. ( 16470797 )
2006
32
Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. ( 16998238 )
2006
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:

75
# 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 8.62 FGFR2 POR

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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