MCID: ANT057
MIFTS: 47

Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis malady

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

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

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

Name: Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 51 24 12
Antley-Bixler Syndrome 11 24 53 49 13
Multisynostotic Osteodysgenesis with Long Bone Fractures 47 24 69
Antley-Bixler Syndrome, Without Genital Anomalies or Disordered Steroidogenesis 69 26
Trapezoidocephaly-Synostosis Syndrome 11 69
Antley-Bixler Syndrome Phenotype 38 67
Antley Bixler Syndrome 47 26
Osteodysgenesis, Multisynostotic, with Fractures 24
 
Osteodysgenesis, Multisynostotic with Fractures 47
Osteodysgenesis Multisynostotic with Fractures 69
Trapezoidocephaly-Mulitple Synostosis Syndrome 24
Antley-Bixler Syndrome, Autosomal Dominant 67
Trapezoidocephaly Synostosis Syndrome 47
Trapezoidocephaly-Synotsosis Syndrome 24
Abs2 69

Characteristics:

Orphanet epidemiological data:

53
antley-bixler syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile

HPO:

63
antley-bixler syndrome without genital anomalies or disordered steroidogenesis:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 207410
Disease Ontology11 DOID:0050462
MeSH38 D054882
Orphanet53 ORPHA83
SNOMED-CT61 62964007
UMLS via Orphanet68 C0265307
ICD10 via Orphanet30 Q87.0
MESH via Orphanet39 C537780
MedGen36 C2936791
UMLS67 C1860042, C2350233, C2936791

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

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OMIM:51 The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral... (207410) more...

MalaCards based summary: Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis, also known as antley-bixler syndrome, is related to antley-bixler syndrome with genital anomalies and disordered steroidogenesis and disordered steroidogenesis due to cytochrome p450 oxidoreductase, and has symptoms including low-set, posteriorly rotated ears, anteverted nares and abnormality of the ribs. An important gene associated with Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are Ovarian steroidogenesis and Metabolism of steroid hormones. Affiliated tissues include bone and heart, and related mouse phenotypes are adipose tissue and integument.

Disease Ontology:11 An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.

UniProtKB/Swiss-Prot:69 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...

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

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Symptoms by clinical synopsis from OMIM:

207410

Clinical features from OMIM:

207410

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

 63 53 (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set, posteriorly rotated ears63 53 hallmark (90%) Very frequent (99-80%) HP:0000368
2 anteverted nares63 53 hallmark (90%) Very frequent (99-80%) HP:0000463
3 abnormality of the ribs63 53 hallmark (90%) Very frequent (99-80%) HP:0000772
4 narrow chest63 53 hallmark (90%) Very frequent (99-80%) HP:0000774
5 arachnodactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001166
6 limitation of joint mobility63 hallmark (90%) HP:0001376
7 frontal bossing63 53 hallmark (90%) Very frequent (99-80%) HP:0002007
8 abnormality of pelvic girdle bone morphology63 hallmark (90%) HP:0002644
9 abnormality of the femur63 hallmark (90%) HP:0002823
10 humeroradial synostosis63 hallmark (90%) HP:0003041
11 short nose63 53 hallmark (90%) Very frequent (99-80%) HP:0003196
12 hypoplasia of the zygomatic bone63 hallmark (90%) HP:0010669
13 camptodactyly of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0100490
14 abnormality of the urinary system63 typical (50%) HP:0000079
15 choanal atresia63 53 typical (50%) Frequent (79-30%) HP:0000453
16 proptosis63 53 typical (50%) Frequent (79-30%) HP:0000520
17 craniosynostosis63 53 typical (50%) Frequent (79-30%) HP:0001363
18 narrow mouth63 53 occasional (7.5%) Occasional (29-5%) HP:0000160
19 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
20 hypertelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000316
21 long philtrum63 53 occasional (7.5%) Occasional (29-5%) HP:0000343
22 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
23 downslanted palpebral fissures63 53 occasional (7.5%) Occasional (29-5%) HP:0000494
24 talipes63 53 occasional (7.5%) Occasional (29-5%) HP:0001883
25 recurrent fractures63 53 occasional (7.5%) Occasional (29-5%) HP:0002757
26 underdeveloped supraorbital ridges63 53 occasional (7.5%) Occasional (29-5%) HP:0009891
27 hypoplastic labia majora63 HP:0000059
28 fused labia minora63 HP:0000063
29 vaginal atresia63 HP:0000148
30 hydrocephalus63 HP:0000238
31 brachycephaly63 53 Very frequent (99-80%) HP:0000248
32 wide anterior fontanel63 HP:0000260
33 malar flattening63 HP:0000272
34 abnormality of the pinna63 HP:0000377
35 stenosis of the external auditory canal63 HP:0000402
36 choanal stenosis63 HP:0000452
37 intellectual disability63 HP:0001249
38 atria septal defect63 HP:0001631
39 rocker bottom foot63 HP:0001838
40 upper airway obstruction63 HP:0002781
41 femoral bowing63 53 Very frequent (99-80%) HP:0002980
42 ulnar bowing63 HP:0003031
43 narrow pelvis bone63 53 Very frequent (99-80%) HP:0003275
44 coronal craniosynostosis63 HP:0004440
45 lambdoidal craniosynostosis63 HP:0004443
46 depressed nasal bridge63 HP:0005280
47 midface retrusion63 HP:0011800
48 abnormal renal morphology63 53 Frequent (79-30%) HP:0012210
49 camptodactyly63 HP:0012385
50 turricephaly53 Occasional (29-5%)
51 delayed cranial suture closure53 Very frequent (99-80%)
52 joint stiffness53 Very frequent (99-80%)
53 malformation of the heart and great vessels53 Very frequent (99-80%)
54 elbow ankylosis53 Very frequent (99-80%)
55 cheekbone underdevelopment53 Very frequent (99-80%)

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1PhytosterolNutraceutical115

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Inborn Errors of Cholesterol Synthesis and Related DisordersRecruitingNCT00046202

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


Cochrane evidence based reviews: antley-bixler syndrome phenotype

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

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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 Steroidogenesis26 24 FGFR2
2 Antley-Bixler Syndrome26 24 POR

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

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

35
Bone, Heart

Animal Models for Antley-Bixler Syndrome Without Genital Anomalies or Disordered... or affiliated genes

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.5CYP19A1, DHCR24, FGFR2, SC5D
2MP:00107718.9CYP19A1, DHCR24, EBP, FGFR2, SC5D
3MP:00053718.5CYP17A1, CYP51A1, FGFR2, POR, SC5D
4MP:00053788.1CYP19A1, CYP51A1, DHCR24, EBP, FGFR2, POR

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

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

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

69
id Symbol AA change Variation ID SNP ID
1FGFR2p.Cys342ArgVAR_004137rs121918488
2FGFR2p.Cys342SerVAR_004138rs121918488
3FGFR2p.Ser351CysVAR_004143rs121918502

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg)SNVPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
2FGFR2NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser)SNVPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
3FGFR2NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys)SNVPathogenicrs121918502GRCh37Chr 10, 123276865: 123276865

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

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

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

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

idSuper pathwaysScoreTop Affiliating Genes
19.7CYP17A1, CYP19A1
2
Show member pathways
9.3CYP17A1, CYP19A1, CYP21A2
3
Show member pathways
9.3CYP17A1, CYP19A1, CYP21A2
4
Show member pathways
7.5CYP51A1, DHCR24, EBP, MSMO1, SC5D
5
Show member pathways
7.5CYP51A1, DHCR24, EBP, MSMO1, SC5D
6
Show member pathways
6.1CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, EBP

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

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

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:00432318.3CYP51A1, EBP, FGFR2, POR, SC5D
2endoplasmic reticulumGO:00057837.2CYP17A1, CYP19A1, CYP51A1, DHCR24, EBP, MSMO1
3endoplasmic reticulum membraneGO:00057895.8CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, EBP

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of steroid hormone biosynthetic processGO:009003110.4CYP17A1, POR
2cellular response to gonadotropin stimulusGO:007137110.4CYP17A1, POR
3glucocorticoid biosynthetic processGO:000670410.3CYP17A1, CYP21A2
4demethylationGO:007098810.1CYP51A1, POR
5fatty acid biosynthetic processGO:00066339.7MSMO1, SC5D
6cholesterol biosynthetic process via lathosterolGO:00334909.3DHCR24, EBP, SC5D
7cholesterol biosynthetic process via desmosterolGO:00334899.2DHCR24, EBP, SC5D
8steroid biosynthetic processGO:00066949.2CYP17A1, CYP19A1, CYP21A2, CYP51A1
9steroid metabolic processGO:00082028.6CYP17A1, CYP21A2, DHCR24, MSMO1
10sterol metabolic processGO:00161258.5CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24
11cholesterol biosynthetic processGO:00066958.3CYP51A1, DHCR24, EBP, MSMO1
12oxidation-reduction processGO:00551146.6CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, MSMO1

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

idNameGO IDScoreTop Affiliating Genes
1steroid hydroxylase activityGO:000839510.0CYP19A1, CYP21A2
2oxygen bindingGO:00198259.8CYP17A1, CYP19A1
3flavin adenine dinucleotide bindingGO:00506609.5DHCR24, POR
4heme bindingGO:00200378.7CYP17A1, CYP19A1, CYP21A2, CYP51A1
5iron ion bindingGO:00055067.5CYP17A1, CYP19A1, CYP21A2, CYP51A1, MSMO1, SC5D

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet