MCID: ANT057
MIFTS: 26

Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis malady

Bone diseases, Fetal diseases categories

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

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46OMIM, 32MalaCards
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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 proptosis/exophthalmos, choanal atresia and structural anomalies of the kidney and the urinary tract. 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:46 207410

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

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Sources:
48Orphanet, 60UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
antley-bixler syndrome 48 60


External Ids:

OMIM46 207410
MESH via Orphanet35 C537780
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet57 62964007
UMLS via Orphanet61 C0265307

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

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17GeneCards, 18GeneDecks
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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:

idRelated DiseaseScoreTop Affiliating Genes
1antley-bixler syndrome11.3
2synostosis10.7
3cytochrome p450 oxidoreductase deficiency10.6
4congenital adrenal hyperplasia10.5
5antley-bixler syndrome with genital anomalies and disordered steroidogenesis10.5
6luteoma10.5
7radioulnar synostosis10.3
8esophageal atresia10.3
9esophagitis10.3
10disordered 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

Clinical Features for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

207410

Clinical synopsis from OMIM:

207410

Symptoms:

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

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

32
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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Genetic Variations for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

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Sources:
62UniProtKB/Swiss-Prot
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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

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

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Sources:
1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet