MCID: ANT057
MIFTS: 13

Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis malady

Genetic diseases (common) category

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

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OMIM:45 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 and has symptoms including autosomal recessive inheritance, hypoplastic labia majora and fused labia minora. An important gene associated with Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis is FGFR2 (fibroblast growth factor receptor 2).

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

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

Name: Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 45 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 207410

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

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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 31)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypoplastic labia majora HP:0000059
3 fused labia minora HP:0000063
4 vaginal atresia HP:0000148
5 hydrocephalus HP:0000238
6 brachycephaly HP:0000248
7 wide anterior fontanel HP:0000260
8 malar flattening HP:0000272
9 long philtrum HP:0000343
10 abnormality of the pinna HP:0000377
11 stenosis of the external auditory canal HP:0000402
12 choanal stenosis HP:0000452
13 choanal atresia HP:0000453
14 proptosis HP:0000520
15 narrow chest HP:0000774
16 arachnodactyly HP:0001166
17 intellectual disability HP:0001249
18 defect in the atrial septum HP:0001631
19 rocker bottom foot HP:0001838
20 frontal bossing HP:0002007
21 upper airway obstruction HP:0002781
22 femoral bowing HP:0002980
23 ulnar bowing HP:0003031
24 humeroradial synostosis HP:0003041
25 narrow pelvis HP:0003275
26 coronal craniosynostosis HP:0004440
27 lambdoidal craniosynostosis HP:0004443
28 depressed nasal bridge HP:0005280
29 midface retrusion HP:0011800
30 abnormal renal morphology HP:0012210
31 camptodactyly HP:0012385

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

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Drug clinical trials:

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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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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:

62
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893

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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Compounds 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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Products 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet