MCID: ANT057
MIFTS: 21

Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis malady

Categories: Genetic diseases (common), Bone diseases

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 24
Multisynostotic Osteodysgenesis with Long Bone Fractures 67
Osteodysgenesis Multisynostotic with Fractures 67
 
Antley-Bixler Syndrome, Autosomal Dominant 65
Trapezoidocephaly-Synostosis Syndrome 67
Abs2 67

Characteristics:

HPO:

61
antley-bixler syndrome without genital anomalies or disordered steroidogenesis:
Inheritance: autosomal recessive inheritance


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 camptodactyly of finger, hypoplasia of the zygomatic bone and short nose. 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.

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 syndrome11.4
2bartter syndrome, type 211.0

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

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

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