MCID: ANT057
MIFTS: 24

Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis malady

Genetic diseases (common), Bone diseases categories

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

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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 49 11
Antley-Bixler Syndrome, Without Genital Anomalies or Disordered Steroidogenesis 67
Multisynostotic Osteodysgenesis with Long Bone Fractures 67
 
Osteodysgenesis Multisynostotic with Fractures 67
Trapezoidocephaly-Synostosis Syndrome 67
Abs2 67


Classifications:



External Ids:

OMIM49 207410
MedGen34 C2936791
MeSH36 D054882

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

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OMIM:49 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 bartter syndrome, type 2, 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:67 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:

idRelated DiseaseScoreTop Affiliating Genes
1antley-bixler syndrome10.6
2bartter syndrome, type 210.1

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

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

(show all 58)
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 malformation of the heart and great vessels hallmark (90%) HP:0002564
9 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
10 abnormality of the femur hallmark (90%) HP:0002823
11 humeroradial synostosis hallmark (90%) HP:0003041
12 short nose hallmark (90%) HP:0003196
13 hypoplasia of the zygomatic bone hallmark (90%) HP:0010669
14 camptodactyly of finger hallmark (90%) HP:0100490
15 abnormality of the urinary system typical (50%) HP:0000079
16 choanal atresia typical (50%) HP:0000453
17 proptosis typical (50%) HP:0000520
18 craniosynostosis typical (50%) HP:0001363
19 narrow mouth occasional (7.5%) HP:0000160
20 cleft palate occasional (7.5%) HP:0000175
21 hypertelorism occasional (7.5%) HP:0000316
22 long philtrum occasional (7.5%) HP:0000343
23 strabismus occasional (7.5%) HP:0000486
24 downslanted palpebral fissures occasional (7.5%) HP:0000494
25 talipes occasional (7.5%) HP:0001883
26 recurrent fractures occasional (7.5%) HP:0002757
27 underdeveloped supraorbital ridges occasional (7.5%) HP:0009891
28 autosomal recessive inheritance HP:0000007
29 hypoplastic labia majora HP:0000059
30 fused labia minora HP:0000063
31 vaginal atresia HP:0000148
32 hydrocephalus HP:0000238
33 brachycephaly HP:0000248
34 wide anterior fontanel HP:0000260
35 malar flattening HP:0000272
36 long philtrum HP:0000343
37 abnormality of the pinna HP:0000377
38 stenosis of the external auditory canal HP:0000402
39 choanal stenosis HP:0000452
40 choanal atresia HP:0000453
41 proptosis HP:0000520
42 narrow chest HP:0000774
43 arachnodactyly HP:0001166
44 intellectual disability HP:0001249
45 atria septal defect HP:0001631
46 rocker bottom foot HP:0001838
47 frontal bossing HP:0002007
48 upper airway obstruction HP:0002781
49 femoral bowing HP:0002980
50 ulnar bowing HP:0003031
51 humeroradial synostosis HP:0003041
52 narrow pelvis bone HP:0003275
53 coronal craniosynostosis HP:0004440
54 lambdoidal craniosynostosis HP:0004443
55 depressed nasal bridge HP:0005280
56 hypoplasia of midface HP:0011800
57 abnormal renal morphology HP:0012210
58 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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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:

33
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:

67
id Symbol AA change Variation ID SNP ID
1FGFR2p.Cys342ArgVAR_004137
2FGFR2p.Cys342SerVAR_004138
3FGFR2p.Ser351CysVAR_004143

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet