MCID: ANT057
MIFTS: 28

Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis malady

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

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

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Sources:
50OMIM, 12diseasecard, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
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 50 12
Antley-Bixler Syndrome, Without Genital Anomalies or Disordered Steroidogenesis 68 25
Multisynostotic Osteodysgenesis with Long Bone Fractures 68
Osteodysgenesis Multisynostotic with Fractures 68
 
Antley-Bixler Syndrome, Autosomal Dominant 66
Trapezoidocephaly-Synostosis Syndrome 68
Antley-Bixler Syndrome 52
Abs2 68

Characteristics:

Orphanet epidemiological data:

52
antley-bixler syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile

HPO:

62
antley-bixler syndrome without genital anomalies or disordered steroidogenesis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 207410
Orphanet52 ORPHA83
ICD10 via Orphanet29 Q87.0
MESH via Orphanet38 C537780
UMLS via Orphanet67 C0265307
MedGen35 C2936791
MeSH37 D054882

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

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OMIM:50 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, without genital anomalies or disordered steroidogenesis, is related to antley-bixler syndrome and antley-bixler syndrome with genital anomalies and disordered steroidogenesis, 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). Affiliated tissues include bone and heart.

UniProtKB/Swiss-Prot:68 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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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)
idRelated DiseaseScoreTop Affiliating Genes
1antley-bixler syndrome12.8
2antley-bixler syndrome with genital anomalies and disordered steroidogenesis12.6
3cytochrome p450 oxidoreductase deficiency11.9
4disordered steroidogenesis due to cytochrome p450 oxidoreductase11.6
5bartter syndrome, type 211.0
6synostosis10.6
7congenital adrenal hyperplasia10.5
8luteoma10.4
9radioulnar synostosis10.3
10esophageal atresia10.3
11esophagitis10.3
12chiari malformation10.3

Graphical network of 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

Symptoms:

 52 (show all 30)
  • narrow mouth
  • cleft palate
  • brachycephaly
  • turricephaly
  • delayed cranial suture closure
  • hypertelorism
  • long philtrum
  • low-set, posteriorly rotated ears
  • choanal atresia
  • anteverted nares
  • strabismus
  • downslanted palpebral fissures
  • proptosis
  • abnormality of the ribs
  • narrow chest
  • arachnodactyly
  • craniosynostosis
  • joint stiffness
  • talipes
  • frontal bossing
  • malformation of the heart and great vessels
  • recurrent fractures
  • femoral bowing
  • elbow ankylosis
  • short nose
  • narrow pelvis
  • underdeveloped supraorbital ridges
  • cheekbone underdevelopment
  • abnormal renal morphology
  • camptodactyly of finger

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

(show all 56)
id Description Frequency HPO Source Accession
1 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
2 anteverted nares hallmark (90%) HP:0000463
3 abnormality of the ribs hallmark (90%) HP:0000772
4 narrow chest hallmark (90%) HP:0000774
5 arachnodactyly hallmark (90%) HP:0001166
6 limitation of joint mobility hallmark (90%) HP:0001376
7 frontal bossing hallmark (90%) HP:0002007
8 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
9 abnormality of the femur hallmark (90%) HP:0002823
10 humeroradial synostosis hallmark (90%) HP:0003041
11 short nose hallmark (90%) HP:0003196
12 hypoplasia of the zygomatic bone hallmark (90%) HP:0010669
13 camptodactyly of finger hallmark (90%) HP:0100490
14 abnormality of the urinary system typical (50%) HP:0000079
15 choanal atresia typical (50%) HP:0000453
16 proptosis typical (50%) HP:0000520
17 craniosynostosis typical (50%) HP:0001363
18 narrow mouth occasional (7.5%) HP:0000160
19 cleft palate occasional (7.5%) HP:0000175
20 hypertelorism occasional (7.5%) HP:0000316
21 long philtrum occasional (7.5%) HP:0000343
22 strabismus occasional (7.5%) HP:0000486
23 downslanted palpebral fissures occasional (7.5%) HP:0000494
24 talipes occasional (7.5%) HP:0001883
25 recurrent fractures occasional (7.5%) HP:0002757
26 underdeveloped supraorbital ridges occasional (7.5%) HP:0009891
27 hypoplastic labia majora HP:0000059
28 fused labia minora HP:0000063
29 vaginal atresia HP:0000148
30 hydrocephalus HP:0000238
31 brachycephaly HP:0000248
32 wide anterior fontanel HP:0000260
33 malar flattening HP:0000272
34 long philtrum HP:0000343
35 abnormality of the pinna HP:0000377
36 stenosis of the external auditory canal HP:0000402
37 choanal stenosis HP:0000452
38 choanal atresia HP:0000453
39 proptosis HP:0000520
40 narrow chest HP:0000774
41 arachnodactyly HP:0001166
42 intellectual disability HP:0001249
43 atria septal defect HP:0001631
44 rocker bottom foot HP:0001838
45 frontal bossing HP:0002007
46 upper airway obstruction HP:0002781
47 femoral bowing HP:0002980
48 ulnar bowing HP:0003031
49 humeroradial synostosis HP:0003041
50 narrow pelvis bone HP:0003275
51 coronal craniosynostosis HP:0004440
52 lambdoidal craniosynostosis HP:0004443
53 depressed nasal bridge HP:0005280
54 midface retrusion HP:0011800
55 abnormal renal morphology HP:0012210
56 camptodactyly HP:0012385

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

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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

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 Steroidogenesis25

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:

34
Bone, Heart

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

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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:

68
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)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
2FGFR2NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
3FGFR2NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys)single nucleotide variantPathogenicrs121918502GRCh37Chr 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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GO Terms for genes affiliated with Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet