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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

Name: Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 52 24 12
Antley-Bixler Syndrome 11 24 54 50 13
Multisynostotic Osteodysgenesis with Long Bone Fractures 48 24 70
Antley-Bixler Syndrome, Without Genital Anomalies or Disordered Steroidogenesis 70 27
Trapezoidocephaly-Synostosis Syndrome 11 70
Antley-Bixler Syndrome Phenotype 39 68
Antley Bixler Syndrome 48 27
Osteodysgenesis, Multisynostotic, with Fractures 24
 
Osteodysgenesis, Multisynostotic with Fractures 48
Osteodysgenesis Multisynostotic with Fractures 70
Trapezoidocephaly-Mulitple Synostosis Syndrome 24
Antley-Bixler Syndrome, Autosomal Dominant 68
Trapezoidocephaly Synostosis Syndrome 48
Trapezoidocephaly-Synotsosis Syndrome 24
Abs2 70

Characteristics:

Orphanet epidemiological data:

54
antley-bixler syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile

HPO:

64
antley-bixler syndrome without genital anomalies or disordered steroidogenesis:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 207410
Disease Ontology11 DOID:0050462
MeSH39 D054882
Orphanet54 ORPHA83
SNOMED-CT62 62964007
UMLS via Orphanet69 C0265307
ICD10 via Orphanet31 Q87.0
MESH via Orphanet40 C537780
MedGen37 C2936791
UMLS68 C1860042, C2350233, C2936791

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

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NIH Rare Diseases:48 Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protruding eyes; low-set, unusually-formed ears; choanal atresia or stenosis (narrowing); fusion of adjacent arm bones (synostosis); joint contractures; arachnodactyly; bowing of the thigh bones; and/or urogenital (urinary tract and genital) abnormalities. The exact underlying cause of Antley Bixler syndrome is unknown in many cases; however, some are due to changes (mutations) in the FGFR2 gene or the POR gene. There appear to be autosomal dominant and autosomal recessive forms of the condition. Treatment is based on the signs and symptoms present in each person. Last updated: 6/16/2015

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.

OMIM:52 The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral... (207410) more...

UniProtKB/Swiss-Prot:70 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 & Phenotypes 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:

 64 54 (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set, posteriorly rotated ears64 54 hallmark (90%) Very frequent (99-80%) HP:0000368
2 anteverted nares64 54 hallmark (90%) Very frequent (99-80%) HP:0000463
3 abnormality of the ribs64 54 hallmark (90%) Very frequent (99-80%) HP:0000772
4 narrow chest64 54 hallmark (90%) Very frequent (99-80%) HP:0000774
5 arachnodactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001166
6 limitation of joint mobility64 hallmark (90%) HP:0001376
7 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
8 abnormality of pelvic girdle bone morphology64 hallmark (90%) HP:0002644
9 abnormality of the femur64 hallmark (90%) HP:0002823
10 humeroradial synostosis64 hallmark (90%) HP:0003041
11 short nose64 54 hallmark (90%) Very frequent (99-80%) HP:0003196
12 hypoplasia of the zygomatic bone64 hallmark (90%) HP:0010669
13 camptodactyly of finger64 54 hallmark (90%) Very frequent (99-80%) HP:0100490
14 abnormality of the urinary system64 typical (50%) HP:0000079
15 choanal atresia64 54 typical (50%) Frequent (79-30%) HP:0000453
16 proptosis64 54 typical (50%) Frequent (79-30%) HP:0000520
17 craniosynostosis64 54 typical (50%) Frequent (79-30%) HP:0001363
18 narrow mouth64 54 occasional (7.5%) Occasional (29-5%) HP:0000160
19 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
20 hypertelorism64 54 occasional (7.5%) Occasional (29-5%) HP:0000316
21 long philtrum64 54 occasional (7.5%) Occasional (29-5%) HP:0000343
22 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
23 downslanted palpebral fissures64 54 occasional (7.5%) Occasional (29-5%) HP:0000494
24 talipes64 54 occasional (7.5%) Occasional (29-5%) HP:0001883
25 recurrent fractures64 54 occasional (7.5%) Occasional (29-5%) HP:0002757
26 underdeveloped supraorbital ridges64 54 occasional (7.5%) Occasional (29-5%) HP:0009891
27 hypoplastic labia majora64 HP:0000059
28 fused labia minora64 HP:0000063
29 vaginal atresia64 HP:0000148
30 hydrocephalus64 HP:0000238
31 brachycephaly64 54 Very frequent (99-80%) HP:0000248
32 wide anterior fontanel64 HP:0000260
33 malar flattening64 HP:0000272
34 abnormality of the pinna64 HP:0000377
35 stenosis of the external auditory canal64 HP:0000402
36 choanal stenosis64 HP:0000452
37 intellectual disability64 HP:0001249
38 atria septal defect64 HP:0001631
39 rocker bottom foot64 HP:0001838
40 upper airway obstruction64 HP:0002781
41 femoral bowing64 54 Very frequent (99-80%) HP:0002980
42 ulnar bowing64 HP:0003031
43 narrow pelvis bone64 54 Very frequent (99-80%) HP:0003275
44 coronal craniosynostosis64 HP:0004440
45 lambdoidal craniosynostosis64 HP:0004443
46 depressed nasal bridge64 HP:0005280
47 midface retrusion64 HP:0011800
48 abnormal renal morphology64 54 Frequent (79-30%) HP:0012210
49 camptodactyly64 HP:0012385
50 turricephaly54 Occasional (29-5%)
51 delayed cranial suture closure54 Very frequent (99-80%)
52 joint stiffness54 Very frequent (99-80%)
53 malformation of the heart and great vessels54 Very frequent (99-80%)
54 elbow ankylosis54 Very frequent (99-80%)
55 cheekbone underdevelopment54 Very frequent (99-80%)

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

41
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

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 Steroidogenesis27 24 FGFR2
2 Antley-Bixler Syndrome27 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:

36
Bone, Heart

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:

70
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:00432318.4CYP51A1, EBP, FGFR2, POR, SC5D
2endoplasmic reticulumGO:00057837.9CYP17A1, CYP19A1, CYP51A1, DHCR24, EBP, MSMO1
3endoplasmic reticulum membraneGO:00057896.8CYP17A1, 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
1cellular response to gonadotropin stimulusGO:007137110.5CYP17A1, POR
2glucocorticoid biosynthetic processGO:000670410.5CYP17A1, CYP21A2
3positive regulation of steroid hormone biosynthetic processGO:009003110.4CYP17A1, POR
4demethylationGO:007098810.3CYP51A1, POR
5fatty acid biosynthetic processGO:00066339.9MSMO1, SC5D
6cholesterol biosynthetic process via desmosterolGO:00334899.6DHCR24, EBP, SC5D
7cholesterol biosynthetic process via lathosterolGO:00334909.6DHCR24, EBP, SC5D
8steroid biosynthetic processGO:00066949.4CYP17A1, CYP19A1, CYP21A2, CYP51A1
9cholesterol biosynthetic processGO:00066958.7CYP51A1, DHCR24, EBP, MSMO1
10steroid metabolic processGO:00082028.7CYP17A1, CYP21A2, DHCR24, MSMO1
11sterol metabolic processGO:00161258.2CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24
12oxidation-reduction processGO:00551147.2CYP17A1, 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
1flavin adenine dinucleotide bindingGO:005066010.2DHCR24, POR
2oxygen bindingGO:001982510.1CYP17A1, CYP19A1
3steroid hydroxylase activityGO:00083959.7CYP19A1, CYP21A2
4heme bindingGO:00200379.4CYP17A1, CYP19A1, CYP21A2, CYP51A1
5iron ion bindingGO:00055068.0CYP17A1, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet