MCID: ANT057
MIFTS: 25

Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

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MalaCards based summary: Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis, also known as antley-bixler syndrome, is related to antley-bixler syndrome and cytochrome p450 oxidoreductase deficiency, and has symptoms including brachycephaly/flat occiput, frontal bossing/prominent forehead and flat cheek bones/malar hypoplasia. 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, 62UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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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 46
 
Antley-Bixler Syndrome 48 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
antley-bixler syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 207410
MESH via Orphanet35 C537780
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0265307

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/GeneDecks gene sharing:

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

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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Symptoms by clinical synopsis from OMIM:

207410

Clinical features from OMIM:

207410

Symptoms:

48 (show all 30)
  • brachycephaly/flat occiput
  • 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
  • autosomal recessive inheritance
  • craniostenosis/craniosynostosis/sutural synostosis
  • 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

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 cheekbone underdevelopment 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 defect in the atrial septum 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 HP:0003275
53 coronal craniosynostosis HP:0004440
54 lambdoidal craniosynostosis HP:0004443
55 depressed nasal bridge HP:0005280
56 midface retrusion 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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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

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:

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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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:

64
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 Name 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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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
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet