ABS2
MCID: ANT057
MIFTS: 43

Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis (ABS2) malady

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

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

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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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 52 24 12
Antley-Bixler Syndrome, Without Genital Anomalies or Disordered Steroidogenesis 70 27
Multisynostotic Osteodysgenesis with Long Bone Fractures 24 70
Osteodysgenesis, Multisynostotic, with Fractures 24
Osteodysgenesis Multisynostotic with Fractures 70
 
Antley-Bixler Syndrome, Autosomal Dominant 68
Trapezoidocephaly-Synotsosis Syndrome 24
Trapezoidocephaly-Synostosis Syndrome 70
Antley-Bixler Syndrome 54
Abs2 70

Characteristics:

Orphanet epidemiological data:

54
antley-bixler syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile

HPO:

64
antley-bixler syndrome without genital anomalies or disordered steroidogenesis:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 207410
Orphanet54 ORPHA83
UMLS via Orphanet69 C0265307
ICD10 via Orphanet31 Q87.0
MESH via Orphanet40 C537780
MedGen37 C2936791
MeSH39 D054882

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

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OMIM:52 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 Array, Array and Array. An important gene associated with Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are superpathway of steroid hormone biosynthesis and Ovarian steroidogenesis. Affiliated tissues include bone and heart, and related mouse phenotypes are limbs/digits/tail and growth/size/body region.

UniProtKB/Swiss-Prot:70 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:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1antley-bixler syndrome11.4
2bartter syndrome, type 210.8
3papillorenal syndrome10.2CYP17A1, POR
4deafness, autosomal recessive 2910.1CYP17A1, CYP21A2
5epithelial predominant pulmonary blastoma10.1CYP17A1, CYP21A2
6clear cell acanthoma10.1CYP17A1, CYP21A2
7microphthalmia, syndromic 910.1CYP17A1, CYP21A2
8dyschromatosis universalis hereditaria10.1DHCR24, EBP
9cardiomyopathy, dilated, 1v10.1CYP17A1, CYP19A1
10deafness, autosomal recessive 7410.0CYP17A1, CYP19A1
11tick-borne encephalitis10.0CYP17A1, CYP21A2
12leukoencephalopathy with ataxia10.0CYP19A1, CYP21A2
13jackson-weiss syndrome10.0CYP17A1, CYP21A2, POR
14second-degree atrioventricular block10.0CYP17A1, CYP21A2, POR
15childhood optic tract astrocytoma10.0CYP17A1, CYP21A2
16porokeratosis 3, disseminated superficial actinic10.0DHCR24, SC5D
17ameloblastoma10.0CYP17A1, CYP21A2
18third ventricle chordoid glioma10.0CYP17A1, CYP19A1
19cervical spinal canal and spinal cord meningioma9.9CYP19A1, CYP21A2, FGFR2
20doughnut lesions of skull, familial9.9EBP, SC5D
21dyt1 early-onset isolated dystonia9.9CYP17A1, CYP21A2, FGFR2, POR
22borderline personality disorder9.9CYP17A1, CYP19A1, CYP21A2
23liver sarcoma9.9CYP17A1, CYP19A1, CYP21A2
24sphingolipidosis9.9CYP17A1, CYP19A1, CYP21A2
25pelvic muscle wasting9.9CYP17A1, CYP19A1, CYP21A2
26glioma susceptibility 19.9CYP17A1, CYP19A1, CYP21A2
27panuveitis9.9CYP17A1, CYP21A2
28primary biliary cirrhosis9.9CYP17A1, CYP19A1, CYP21A2
29richter's syndrome9.8DHCR24, EBP, SC5D
30epidemic typhus9.5CYP17A1, CYP19A1, CYP21A2, CYP51A1, FGFR2, POR
31bent bone dysplasia syndrome8.7CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, EBP

Graphical network of the top 20 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 & Phenotypes 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

Human phenotypes related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

 54 64 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth54 Occasional (29-5%)
2 cleft palate54 Occasional (29-5%)
3 brachycephaly64 54 Very frequent (99-80%) HP:0000248
4 turricephaly54 Occasional (29-5%)
5 delayed cranial suture closure54 Very frequent (99-80%)
6 hypertelorism54 Occasional (29-5%)
7 long philtrum64 54 Occasional (29-5%) HP:0000343
8 low-set, posteriorly rotated ears54 Very frequent (99-80%)
9 choanal atresia64 54 Frequent (79-30%) HP:0000453
10 anteverted nares54 Very frequent (99-80%)
11 strabismus54 Occasional (29-5%)
12 downslanted palpebral fissures54 Occasional (29-5%)
13 proptosis64 54 Frequent (79-30%) HP:0000520
14 abnormality of the ribs54 Very frequent (99-80%)
15 narrow chest64 54 Very frequent (99-80%) HP:0000774
16 arachnodactyly64 54 Very frequent (99-80%) HP:0001166
17 craniosynostosis54 Frequent (79-30%)
18 joint stiffness54 Very frequent (99-80%)
19 talipes54 Occasional (29-5%)
20 frontal bossing64 54 Very frequent (99-80%) HP:0002007
21 malformation of the heart and great vessels54 Very frequent (99-80%)
22 recurrent fractures54 Occasional (29-5%)
23 femoral bowing64 54 Very frequent (99-80%) HP:0002980
24 elbow ankylosis54 Very frequent (99-80%)
25 short nose54 Very frequent (99-80%)
26 narrow pelvis bone64 54 Very frequent (99-80%) HP:0003275
27 underdeveloped supraorbital ridges54 Occasional (29-5%)
28 cheekbone underdevelopment54 Very frequent (99-80%)
29 abnormal renal morphology64 54 Frequent (79-30%) HP:0012210
30 camptodactyly of finger54 Very frequent (99-80%)
31 hypoplastic labia majora64 HP:0000059
32 fused labia minora64 HP:0000063
33 vaginal atresia64 HP:0000148
34 hydrocephalus64 HP:0000238
35 wide anterior fontanel64 HP:0000260
36 malar flattening64 HP:0000272
37 abnormality of the pinna64 HP:0000377
38 stenosis of the external auditory canal64 HP:0000402
39 choanal stenosis64 HP:0000452
40 intellectual disability64 HP:0001249
41 atrial septal defect64 HP:0001631
42 rocker bottom foot64 HP:0001838
43 upper airway obstruction64 HP:0002781
44 ulnar bowing64 HP:0003031
45 humeroradial synostosis64 HP:0003041
46 coronal craniosynostosis64 HP:0004440
47 lambdoidal craniosynostosis64 HP:0004443
48 depressed nasal bridge64 HP:0005280
49 midface retrusion64 HP:0011800
50 camptodactyly64 HP:0012385

MGI Mouse Phenotypes related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.2CYP17A1, CYP51A1, FGFR2, POR, SC5D
2MP:00053787.8CYP19A1, CYP51A1, DHCR24, EBP, FGFR2, POR

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

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Drugs for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1PhytosterolNutraceutical118

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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Genetic tests related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

id Genetic test Affiliating Genes
1 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis27 24 FGFR2

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:

36
Bone, Heart

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:

70
id Symbol AA change Variation ID SNP ID
1FGFR2p.Cys342ArgVAR_004137rs121918488
2FGFR2p.Cys342SerVAR_004138rs121918488
3FGFR2p.Ser351CysVAR_004143rs121918502

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)SNVPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
2FGFR2NM_ 000141.4(FGFR2): c.1024T> A (p.Cys342Ser)SNVPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
3FGFR2NM_ 000141.4(FGFR2): c.1052C> G (p.Ser351Cys)SNVPathogenicrs121918502GRCh37Chr 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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Pathways related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5CYP17A1, CYP21A2
29.4CYP17A1, CYP19A1
3
Show member pathways
9.4CYP17A1, CYP19A1
4
Show member pathways
9.2CYP19A1, DHCR24, POR
5
Show member pathways
8.9CYP17A1, CYP19A1, CYP21A2
6
Show member pathways
8.9CYP17A1, CYP19A1, CYP21A2
7
Show member pathways
8.1CYP17A1, CYP19A1, CYP21A2, CYP51A1, POR
8
Show member pathways
8.0CYP51A1, DHCR24, EBP, MSMO1, SC5D
9
Show member pathways
8.0CYP51A1, DHCR24, EBP, MSMO1, SC5D
10
Show member pathways
6.1CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, EBP

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

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Cellular components related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:00432318.3CYP21A2, CYP51A1, EBP, FGFR2, POR, SC5D
2integral component of membraneGO:00160217.5CYP19A1, CYP51A1, DHCR24, EBP, FGFR2, MSMO1
3endoplasmic reticulumGO:00057836.9CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, EBP
4endoplasmic reticulum membraneGO:00057896.9CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, EBP
5membraneGO:00160205.8CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, EBP

Biological processes related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1demethylationGO:007098810.4CYP51A1, POR
2glucocorticoid biosynthetic processGO:000670410.3CYP17A1, CYP21A2
3cholesterol metabolic processGO:00082039.8CYP51A1, DHCR24, EBP
4regulation of cholesterol biosynthetic processGO:00455409.8CYP51A1, SC5D
5cholesterol biosynthetic processGO:00066959.5CYP51A1, DHCR24, EBP, MSMO1
6cholesterol biosynthetic process via desmosterolGO:00334899.5DHCR24, EBP, SC5D
7cholesterol biosynthetic process via lathosterolGO:00334909.5DHCR24, EBP, SC5D
8lipid metabolic processGO:00066298.7CYP51A1, DHCR24, EBP, MSMO1, SC5D
9sterol biosynthetic processGO:00161268.3CYP51A1, DHCR24, EBP, MSMO1, SC5D
10sterol metabolic processGO:00161257.6CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, EBP
11steroid metabolic processGO:00082027.5CYP17A1, CYP21A2, CYP51A1, DHCR24, EBP, MSMO1
12oxidation-reduction processGO:00551147.2CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, MSMO1
13steroid biosynthetic processGO:00066947.0CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, EBP

Molecular functions related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:005066010.5DHCR24, POR
2oxygen bindingGO:00198259.7CYP17A1, CYP19A1
3steroid hydroxylase activityGO:00083959.3CYP19A1, CYP21A2
4heme bindingGO:00200379.2CYP17A1, CYP19A1, CYP21A2, CYP51A1
5oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygenGO:00167058.9CYP17A1, CYP19A1, CYP21A2, CYP51A1
6iron ion bindingGO:00055068.0CYP17A1, CYP19A1, CYP21A2, CYP51A1, MSMO1, SC5D
7oxidoreductase activityGO:00164917.2CYP17A1, CYP19A1, CYP21A2, CYP51A1, DHCR24, MSMO1

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet