MCID: ANT057
MIFTS: 25

Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories

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

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48OMIM, 34MalaCards
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MalaCards: Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis, also known as antley-bixler syndrome, is related to antley-bixler syndrome and synostosis, and has symptoms including talipes-varus/metatarsal varus, rib structure anomalies and femur anomaly/absence/agenesis/hypoplasia/bifurcation. 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 kidney.

Description from OMIM:48 207410

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

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Sources:
48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
antley-bixler syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

antley-bixler syndrome without genital anomalies or disordered steroidogenesis 48
antley-bixler syndrome 50 63


External Ids:

OMIM48 207410
MESH via Orphanet37 C537780
ICD10 via Orphanet27 Q87.0
SNOMED-CT via Orphanet60 62964007
UMLS via Orphanet64 C0265307

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

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18GeneCards, 19GeneDecks
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Diseases related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1antley-bixler syndrome11.3
2synostosis10.7
3cytochrome p450 oxidoreductase deficiency10.6
4congenital adrenal hyperplasia10.6
5antley-bixler syndrome with genital anomalies and disordered steroidogenesis10.6
6luteoma10.5
7radioulnar synostosis10.3
8esophageal atresia10.3
9esophagitis10.3
10chiari malformation10.3
11disordered steroidogenesis due to cytochrome p450 oxidoreductase10.3

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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

207410

Clinical features from OMIM:

207410

Symptoms:

50 (show all 30)
  • talipes-varus/metatarsal varus
  • rib structure anomalies
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • choanal atresia
  • long hand/arachnodactyly
  • craniostenosis/craniosynostosis/sutural synostosis
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • proptosis/exophthalmos
  • structural anomalies of the kidney and the urinary tract
  • camptodactyly of fingers
  • turricephaly/oxycephaly/acrocephaly
  • flat supraorbital ridge
  • humeroradial fusion
  • microstomia/little mouth
  • mutiple fractures/bone fragility
  • hypertelorism
  • flat cheek bones/malar hypoplasia
  • low set ears/posteriorly rotated ears
  • autosomal recessive inheritance
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • short/small nose
  • restricted joint mobility/joint stiffness/ankylosis
  • anteverted nares/nostrils
  • brachycephaly/flat occiput
  • long philtrum
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • congenital cardiac anomaly/malformation/cardiopathy
  • narrow rib cage/thorax
  • strabismus/squint
  • frontal bossing/prominent forehead

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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis

Drug clinical trials:

Search ClinicalTrials for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis

Search NIH Clinical Center for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis

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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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34MalaCards
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MalaCards organs/tissues related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

34
Bone, Kidney

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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

65
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:

1
id Gene Name 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

Expression for genes affiliated with Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet