MCID: ANT057
MIFTS: 31

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 54 24 29 13
Multisynostotic Osteodysgenesis with Long Bone Fractures 24 71
Antley-Bixler Syndrome, Without Genital Anomalies or Disordered Steroidogenesis 71
Osteodysgenesis, Multisynostotic, with Fractures 24
Osteodysgenesis Multisynostotic with Fractures 71
Antley-Bixler Syndrome, Autosomal Dominant 69
Trapezoidocephaly-Synostosis Syndrome 71
Trapezoidocephaly-Synotsosis Syndrome 24
Antley-Bixler Syndrome 56
Abs2 71

Characteristics:

Orphanet epidemiological data:

56
antley-bixler syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

54
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:

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 : 54
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 antley-bixler syndrome with genital anomalies and disordered steroidogenesis, and has symptoms including proptosis, femoral bowing and choanal atresia. 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.

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:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome 12.7
2 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 12.6
3 cytochrome p450 oxidoreductase deficiency 11.7
4 disordered steroidogenesis due to cytochrome p450 oxidoreductase 11.3
5 bartter syndrome, type 2 10.8
6 synostosis 10.5
7 congenital adrenal hyperplasia 10.4
8 luteoma 10.3
9 chiari malformation 10.1
10 radioulnar synostosis 10.1
11 esophageal atresia 10.1
12 esophagitis 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...

Symptoms via clinical synopsis from OMIM:

54

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

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

Head And Neck- Ears:
dysplastic ears
stenotic external auditory canals

Skeletal- Feet:
rocker-bottom feet

Skeletal- Hands:
camptodactyly
arachnodactyly

Head And Neck- Head:
large anterior fontanelle
brachycephaly

Respiratory- Airways:
upper airway obstruction

Neurologic- Central Nervous System:
hydrocephalus
variable mental retardation

Head And Neck- Eyes:
proptosis

Cardiovascular- Heart:
atrial septal defect

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

Chest- Ribs Sternum Clavicles And Scapulae:
narrow chest

Skeletal- Pelvis:
narrow pelvis

Skeletal- Skull:
craniosynostosis, coronal and lambdoidal


Clinical features from OMIM:

207410

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

56 32 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proptosis 56 32 Frequent (79-30%) HP:0000520
2 femoral bowing 56 32 Very frequent (99-80%) HP:0002980
3 choanal atresia 56 32 Frequent (79-30%) HP:0000453
4 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
5 narrow chest 56 32 Very frequent (99-80%) HP:0000774
6 long philtrum 56 32 Occasional (29-5%) HP:0000343
7 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
8 arachnodactyly 56 32 Very frequent (99-80%) HP:0001166
9 narrow pelvis bone 56 32 Very frequent (99-80%) HP:0003275
10 abnormal renal morphology 56 32 Frequent (79-30%) HP:0012210
11 strabismus 56 Occasional (29-5%)
12 hydrocephalus 32 HP:0000238
13 depressed nasal bridge 32 HP:0005280
14 hypertelorism 56 Occasional (29-5%)
15 cleft palate 56 Occasional (29-5%)
16 atrial septal defect 32 HP:0001631
17 short nose 56 Very frequent (99-80%)
18 anteverted nares 56 Very frequent (99-80%)
19 hypoplastic labia majora 32 HP:0000059
20 camptodactyly 32 HP:0012385
21 intellectual disability 32 HP:0001249
22 recurrent fractures 56 Occasional (29-5%)
23 joint stiffness 56 Very frequent (99-80%)
24 midface retrusion 32 HP:0011800
25 wide anterior fontanel 32 HP:0000260
26 downslanted palpebral fissures 56 Occasional (29-5%)
27 low-set, posteriorly rotated ears 56 Very frequent (99-80%)
28 craniosynostosis 56 Frequent (79-30%)
29 malar flattening 32 HP:0000272
30 fused labia minora 32 HP:0000063
31 humeroradial synostosis 32 HP:0003041
32 talipes 56 Occasional (29-5%)
33 upper airway obstruction 32 HP:0002781
34 elbow ankylosis 56 Very frequent (99-80%)
35 vaginal atresia 32 HP:0000148
36 coronal craniosynostosis 32 HP:0004440
37 turricephaly 56 Occasional (29-5%)
38 ulnar bowing 32 HP:0003031
39 choanal stenosis 32 HP:0000452
40 narrow mouth 56 Occasional (29-5%)
41 underdeveloped supraorbital ridges 56 Occasional (29-5%)
42 malformation of the heart and great vessels 56 Very frequent (99-80%)
43 abnormality of the pinna 32 HP:0000377
44 abnormality of the ribs 56 Very frequent (99-80%)
45 cheekbone underdevelopment 56 Very frequent (99-80%)
46 camptodactyly of finger 56 Very frequent (99-80%)
47 stenosis of the external auditory canal 32 HP:0000402
48 rocker bottom foot 32 HP:0001838
49 delayed cranial suture closure 56 Very frequent (99-80%)
50 lambdoidal craniosynostosis 32 HP:0004443

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):


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

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 29 24 FGFR2

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:

39
Bone, Heart

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

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
id 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
id 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...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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