ABS2
MCID: ANT057
MIFTS: 36

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

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 72 39
Multisynostotic Osteodysgenesis with Long Bone Fractures 57 72
Trapezoidocephaly-Synostosis Syndrome 57 72
Abs2 57 72
Osteodysgenesis, Multisynostotic, with Fractures 57
Osteodysgenesis Multisynostotic with Fractures 72
Antley-Bixler Syndrome, Autosomal Dominant 70
Antley-Bixler Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
antley-bixler syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 20-May-2021)
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:

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


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


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) (Updated 20-May-2021)

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 cytochrome p450 oxidoreductase deficiency and antley-bixler syndrome. 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, spinal cord and heart, and related phenotypes are frontal bossing and brachycephaly

UniProtKB/Swiss-Prot : 72 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:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 cytochrome p450 oxidoreductase deficiency 32.3 POR FGFR2
2 antley-bixler syndrome 31.9 POR FGFR2
3 synostosis 30.2 POR FGFR2
4 humeroradial synostosis 30.2 POR FGFR2
5 craniosynostosis 30.0 POR FGFR2
6 radioulnar synostosis 29.9 POR FGFR2
7 crouzon syndrome 29.7 POR FGFR2
8 osteochondrodysplasia 29.4 POR FGFR2
9 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 12.0
10 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 11.8
11 bartter syndrome, type 1, antenatal 11.3
12 antley-bixler syndrome without genital anomaly or disorder of steroidogenesis 11.3
13 bartter syndrome, type 2, antenatal 11.0
14 lipoid congenital adrenal hyperplasia 10.6
15 choanal atresia, posterior 10.6
16 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.6
17 exophthalmos 10.6
18 pfeiffer syndrome 10.4
19 familial glucocorticoid deficiency 10.4
20 brittle bone disorder 10.4
21 anus, imperforate 10.4
22 clubfoot 10.4
23 trigonocephaly 1 10.3
24 chiari malformation type ii 10.3
25 aromatase deficiency 10.3
26 autosomal recessive disease 10.3
27 hydrocephalus 10.3
28 ankylosis 10.3
29 luteoma 10.3
30 chiari malformation 10.3
31 isolated trigonocephaly 10.3
32 cleft palate, isolated 10.1
33 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
34 craniosynostosis 1 10.1
35 jackson-weiss syndrome 10.1
36 earlobe crease 10.1
37 down syndrome 10.1
38 renal hypodysplasia/aplasia 1 10.1
39 cryptorchidism, unilateral or bilateral 10.1
40 bone disease 10.1
41 esophageal atresia 10.1
42 tethered spinal cord syndrome 10.1
43 hydronephrosis 10.1
44 respiratory failure 10.1
45 hyperandrogenism 10.1
46 amenorrhea 10.1
47 obstructive hydrocephalus 10.1
48 hypogonadism 10.1
49 dysostosis 10.1
50 gastroenteritis 10.1

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:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 Very frequent (99-80%) HP:0002007
2 brachycephaly 58 31 Very frequent (99-80%) HP:0000248
3 arachnodactyly 58 31 Very frequent (99-80%) HP:0001166
4 choanal atresia 58 31 Frequent (79-30%) HP:0000453
5 long philtrum 58 31 Occasional (29-5%) HP:0000343
6 proptosis 58 31 Frequent (79-30%) HP:0000520
7 narrow chest 58 31 Very frequent (99-80%) HP:0000774
8 narrow pelvis bone 58 31 Very frequent (99-80%) HP:0003275
9 femoral bowing 58 31 Very frequent (99-80%) HP:0002980
10 abnormal renal morphology 58 31 Frequent (79-30%) HP:0012210
11 intellectual disability 31 HP:0001249
12 hydrocephalus 31 HP:0000238
13 depressed nasal bridge 31 HP:0005280
14 hypertelorism 58 Occasional (29-5%)
15 joint stiffness 58 Very frequent (99-80%)
16 short nose 58 Very frequent (99-80%)
17 anteverted nares 58 Very frequent (99-80%)
18 flexion contracture 31 HP:0001371
19 malformation of the heart and great vessels 58 Very frequent (99-80%)
20 strabismus 58 Occasional (29-5%)
21 cleft palate 58 Occasional (29-5%)
22 atrial septal defect 31 HP:0001631
23 downslanted palpebral fissures 58 Occasional (29-5%)
24 narrow mouth 58 Occasional (29-5%)
25 low-set, posteriorly rotated ears 58 Very frequent (99-80%)
26 abnormality of the ribs 58 Very frequent (99-80%)
27 talipes 58 Occasional (29-5%)
28 hypoplasia of the zygomatic bone 58 Very frequent (99-80%)
29 recurrent fractures 58 Occasional (29-5%)
30 malar flattening 31 HP:0000272
31 turricephaly 58 Occasional (29-5%)
32 craniosynostosis 58 Frequent (79-30%)
33 midface retrusion 31 HP:0011800
34 camptodactyly of finger 58 Very frequent (99-80%)
35 wide anterior fontanel 31 HP:0000260
36 underdeveloped supraorbital ridges 58 Occasional (29-5%)
37 stenosis of the external auditory canal 31 HP:0000402
38 delayed cranial suture closure 58 Very frequent (99-80%)
39 hypoplastic labia majora 31 HP:0000059
40 rocker bottom foot 31 HP:0001838
41 upper airway obstruction 31 HP:0002781
42 vaginal atresia 31 HP:0000148
43 ulnar bowing 31 HP:0003031
44 camptodactyly 31 HP:0012385
45 abnormality of the pinna 31 HP:0000377
46 elbow ankylosis 58 Very frequent (99-80%)
47 choanal stenosis 31 HP:0000452
48 humeroradial synostosis 31 HP:0003041
49 coronal craniosynostosis 31 HP:0004440
50 lambdoidal craniosynostosis 31 HP:0004443

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
frontal bossing
long philtrum
midface hypoplasia

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

Cardiovascular Heart:
atrial septal defect

Head And Neck Eyes:
proptosis

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

Skeletal Hands:
arachnodactyly
camptodactyly

Chest Ribs Sternum Clavicles And Scapulae:
narrow chest

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 (Updated 20-May-2021)

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

Search Clinical Trials , 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:

40
Bone, Spinal Cord, 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 55)
# Title Authors PMID Year
1
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 6 57
10633130 2000
2
Patient described by Chun et al. may not present Antley-Bixler syndrome. 57 6
10076886 1999
3
Not Antley-Bixler syndrome. 57 6
10076887 1999
4
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 57 6
9605588 1998
5
FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 6
26362256 2015
6
Spectrum of Antley-Bixler syndrome. 57
20818252 2010
7
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. 6
15996217 2005
8
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 57
15793702 2005
9
Antley-Bixler syndrome with radioulnar synostosis. 57
14513299 2004
10
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 6
10406670 1999
11
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. 6
9714439 1998
12
The Antley-Bixler syndrome. A new case without radiohumeral synostosis. 57
9664207 1998
13
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 6
9385368 1997
14
Antley-Bixler syndrome: case report and review of the literature. 57
9018420 1997
15
Type 3 Pfeiffer syndrome with normal thumbs. 6
8958319 1996
16
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 6
8528214 1995
17
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 6
7719345 1995
18
The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies. 57
7720741 1995
19
Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21. 57
7774045 1995
20
Antley-Bixler syndrome: report of a patient and review of literature. 57
7889649 1994
21
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 6
7987400 1994
22
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 6
8434615 1993
23
Antley-Bixler syndrome from a prognostic perspective. 57
2929666 1989
24
Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature. 57
3041834 1988
25
Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus. 57
6829602 1983
26
Developments in the trapezoidcephaly-multiple synostosis syndrome. 57
6829603 1983
27
The Antley-Bixler syndrome. 57
7097411 1982
28
The syndrome of multisynostotic osteodysgenesis with long-bone fractures. 57
7468663 1980
29
Actin flow-dependent and -independent force transmission through integrins. 61
33262280 2020
30
Evaluation of physiological and molecular effect of variable virulence of Alternaria brassicae isolates in Brassica juncea, Sinapis alba and Camelina sativa. 61
32858425 2020
31
White matter integrity alternations associated with cocaine dependence and long-term abstinence: Preliminary findings. 61
31783090 2020
32
Novel insights on m6A RNA methylation in tumorigenesis: a double-edged sword. 61
30031372 2018
33
Genomic analysis of in vivo acquired resistance to colistin and rifampicin in Acinetobacter baumannii. 61
29127051 2018
34
Crystal Structure of Leiomodin 2 in Complex with Actin: A Structural and Functional Reexamination. 61
28834725 2017
35
Tropomodulins and Leiomodins: Actin Pointed End Caps and Nucleators in Muscles. 61
28494946 2017
36
Multimodal and Polymorphic Interactions between Anillin and Actin: Their Implications for Cytokinesis. 61
28147230 2017
37
Talin tension sensor reveals novel features of focal adhesion force transmission and mechanosensitivity. 61
27161398 2016
38
Vinculin controls talin engagement with the actomyosin machinery. 61
26634421 2015
39
How Leiomodin and Tropomodulin use a common fold for different actin assembly functions. 61
26370058 2015
40
Combined experimental and theoretical studies on the photophysical properties of cycloparaphenylenes. 61
22441238 2012
41
The over-expression of an Arabidopsis B3 transcription factor, ABS2/NGAL1, leads to the loss of flower petals. 61
23185464 2012
42
Two distinct regions of calponin share common binding sites on actin resulting in different modes of calponin-actin interaction. 61
20595006 2010
43
Combinatorial QSAR modeling of chemical toxicants tested against Tetrahymena pyriformis. 61
18311912 2008
44
Functional capacity of dystrophins carrying deletions in the N-terminal actin-binding domain. 61
17588958 2007
45
Calponin binds G-actin and F-actin with similar affinity. 61
16901482 2006
46
Crystal structure of the actin-binding domain of alpha-actinin 1: evaluating two competing actin-binding models. 61
16698282 2006
47
The possible role of natural idiotopes in immune memory. 61
15559375 2004
48
Structure, crystal packing and molecular dynamics of the calponin-homology domain of Schizosaccharomyces pombe Rng2. 61
15272162 2004
49
Specificity of binding of the plectin actin-binding domain to beta4 integrin. 61
14517317 2003
50
The molecular basis for the autoregulation of calponin by isoform-specific C-terminal tail sequences. 61
11973344 2002

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

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

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

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

72
# 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

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...

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

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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