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...

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

Name: Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 54 24 13
Antley-Bixler Syndrome, Without Genital Anomalies or Disordered Steroidogenesis 66 29
Multisynostotic Osteodysgenesis with Long Bone Fractures 24 66
Osteodysgenesis, Multisynostotic, with Fractures 24
Osteodysgenesis Multisynostotic with Fractures 66
Antley-Bixler Syndrome, Autosomal Dominant 69
Trapezoidocephaly-Synostosis Syndrome 66
Trapezoidocephaly-Synotsosis Syndrome 24
Antley-Bixler Syndrome 56
Abs2 66

Characteristics:

Orphanet epidemiological data:

56
antley-bixler syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

HPO:

32
antley-bixler syndrome without genital anomalies or disordered steroidogenesis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 207410
Orphanet 56 ORPHA83
UMLS via Orphanet 70 C0265307
ICD10 via Orphanet 34 Q87.0
MESH via Orphanet 43 C537780
MedGen 40 C2936791
MeSH 42 D054882

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

OMIM : 54 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 frontal bossing, brachycephaly and long philtrum. 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/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. The drug Phytosterol has been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotypes are growth/size/body region and limbs/digits/tail

UniProtKB/Swiss-Prot : 66 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...

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)
id Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome 11.4
2 bartter syndrome, type 2 10.8
3 papillorenal syndrome 10.2 CYP17A1 POR
4 deafness, autosomal recessive 29 10.1 CYP17A1 CYP21A2
5 epithelial predominant pulmonary blastoma 10.1 CYP17A1 CYP21A2
6 clear cell acanthoma 10.1 CYP17A1 CYP21A2
7 microphthalmia, syndromic 9 10.1 CYP17A1 CYP21A2
8 dyschromatosis universalis hereditaria 10.1 DHCR24 EBP
9 cardiomyopathy, dilated, 1v 10.1 CYP17A1 CYP19A1
10 deafness, autosomal recessive 74 10.0 CYP17A1 CYP19A1
11 tick-borne encephalitis 10.0 CYP17A1 CYP21A2
12 leukoencephalopathy with ataxia 10.0 CYP19A1 CYP21A2
13 jackson-weiss syndrome 10.0 CYP17A1 CYP21A2 POR
14 second-degree atrioventricular block 10.0 CYP17A1 CYP21A2 POR
15 childhood optic tract astrocytoma 10.0 CYP17A1 CYP21A2
16 porokeratosis 3, disseminated superficial actinic 10.0 DHCR24 SC5D
17 third ventricle chordoid glioma 10.0 CYP17A1 CYP19A1
18 ameloblastoma 10.0 CYP17A1 CYP21A2
19 cervical spinal canal and spinal cord meningioma 9.9 CYP19A1 CYP21A2 FGFR2
20 doughnut lesions of skull, familial 9.9 EBP SC5D
21 dyt1 early-onset isolated dystonia 9.9 CYP17A1 CYP21A2 FGFR2 POR
22 borderline personality disorder 9.9 CYP17A1 CYP19A1 CYP21A2
23 liver sarcoma 9.9 CYP17A1 CYP19A1 CYP21A2
24 sphingolipidosis 9.9 CYP17A1 CYP19A1 CYP21A2
25 pelvic muscle wasting 9.9 CYP17A1 CYP19A1 CYP21A2
26 glioma susceptibility 1 9.9 CYP17A1 CYP19A1 CYP21A2
27 panuveitis 9.9 CYP17A1 CYP21A2
28 primary biliary cirrhosis 9.9 CYP17A1 CYP19A1 CYP21A2
29 richter's syndrome 9.8 DHCR24 EBP SC5D
30 epidemic typhus 9.5 CYP17A1 CYP19A1 CYP21A2 CYP51A1 FGFR2 POR
31 bent bone dysplasia syndrome 8.7 CYP17A1 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...

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:

56 32 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
2 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
3 long philtrum 56 32 Occasional (29-5%) HP:0000343
4 narrow chest 56 32 Very frequent (99-80%) HP:0000774
5 arachnodactyly 56 32 Very frequent (99-80%) HP:0001166
6 choanal atresia 56 32 Frequent (79-30%) HP:0000453
7 proptosis 56 32 Frequent (79-30%) HP:0000520
8 narrow pelvis bone 56 32 Very frequent (99-80%) HP:0003275
9 abnormal renal morphology 56 32 Frequent (79-30%) HP:0012210
10 femoral bowing 56 32 Very frequent (99-80%) HP:0002980
11 joint stiffness 56 Very frequent (99-80%)
12 malar flattening 32 HP:0000272
13 hypertelorism 56 Occasional (29-5%)
14 hydrocephalus 32 HP:0000238
15 intellectual disability 32 HP:0001249
16 depressed nasal bridge 32 HP:0005280
17 short nose 56 Very frequent (99-80%)
18 anteverted nares 56 Very frequent (99-80%)
19 cleft palate 56 Occasional (29-5%)
20 malformation of the heart and great vessels 56 Very frequent (99-80%)
21 strabismus 56 Occasional (29-5%)
22 abnormality of the pinna 32 HP:0000377
23 coronal craniosynostosis 32 HP:0004440
24 low-set, posteriorly rotated ears 56 Very frequent (99-80%)
25 downslanted palpebral fissures 56 Occasional (29-5%)
26 narrow mouth 56 Occasional (29-5%)
27 turricephaly 56 Occasional (29-5%)
28 abnormality of the ribs 56 Very frequent (99-80%)
29 recurrent fractures 56 Occasional (29-5%)
30 cheekbone underdevelopment 56 Very frequent (99-80%)
31 midface retrusion 32 HP:0011800
32 craniosynostosis 56 Frequent (79-30%)
33 camptodactyly of finger 56 Very frequent (99-80%)
34 stenosis of the external auditory canal 32 HP:0000402
35 talipes 56 Occasional (29-5%)
36 wide anterior fontanel 32 HP:0000260
37 hypoplastic labia majora 32 HP:0000059
38 underdeveloped supraorbital ridges 56 Occasional (29-5%)
39 choanal stenosis 32 HP:0000452
40 rocker bottom foot 32 HP:0001838
41 delayed cranial suture closure 56 Very frequent (99-80%)
42 upper airway obstruction 32 HP:0002781
43 camptodactyly 32 HP:0012385
44 ulnar bowing 32 HP:0003031
45 elbow ankylosis 56 Very frequent (99-80%)
46 vaginal atresia 32 HP:0000148
47 humeroradial synostosis 32 HP:0003041
48 fused labia minora 32 HP:0000063
49 lambdoidal craniosynostosis 32 HP:0004443
50 atrial septal defect 32 HP:0001631

MGI Mouse Phenotypes related to Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 CYP51A1 DHCR24 EBP FGFR2 POR SC5D
2 limbs/digits/tail MP:0005371 9.02 CYP17A1 CYP51A1 FGFR2 POR SC5D

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

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Phytosterol Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202

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...

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 Steroidogenesis 29 24 FGFR2

Anatomical Context for Antley-Bixler Syndrome Without Genital Anomalies or Disordered...

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

39
Bone, Heart

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

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

UniProtKB/Swiss-Prot genetic disease variations for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

66
id Symbol AA change Variation ID SNP ID
1 FGFR2 p.Cys342Arg VAR_004137 rs121918488
2 FGFR2 p.Cys342Ser VAR_004138 rs121918488
3 FGFR2 p.Ser351Cys VAR_004143 rs121918502

ClinVar genetic disease variations for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
2 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
3 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh37 Chromosome 10, 123276865: 123276865

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

Search GEO for disease gene expression data for Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis.

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

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 CYP17A1 CYP19A1 CYP21A2 CYP51A1 DHCR24 EBP
2
Show member pathways
12.77 CYP17A1 CYP19A1 CYP21A2 CYP51A1 POR
3
Show member pathways
11.85 CYP19A1 DHCR24 POR
4
Show member pathways
11.44 CYP17A1 CYP19A1 CYP21A2
5
Show member pathways
11.41 CYP51A1 DHCR24 EBP MSMO1 SC5D
6
Show member pathways
11.24 CYP17A1 CYP19A1 CYP21A2
7
Show member pathways
11.21 CYP17A1 CYP19A1
8 11.16 CYP17A1 CYP19A1
9
Show member pathways
10.9 CYP51A1 DHCR24 EBP MSMO1 SC5D
10
Show member pathways
10.73 CYP17A1 CYP21A2

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

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

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.96 CYP17A1 CYP19A1 CYP21A2 CYP51A1 DHCR24 EBP
2 integral component of membrane GO:0016021 9.92 CYP19A1 CYP51A1 DHCR24 EBP FGFR2 MSMO1
3 intracellular membrane-bounded organelle GO:0043231 9.63 CYP21A2 CYP51A1 EBP FGFR2 POR SC5D
4 endoplasmic reticulum GO:0005783 9.61 CYP17A1 CYP19A1 CYP21A2 CYP51A1 DHCR24 EBP
5 endoplasmic reticulum membrane GO:0005789 9.28 CYP17A1 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)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.92 CYP17A1 CYP19A1 CYP21A2 CYP51A1 DHCR24 MSMO1
2 lipid metabolic process GO:0006629 9.85 CYP51A1 DHCR24 EBP MSMO1 SC5D
3 cholesterol biosynthetic process GO:0006695 9.73 CYP51A1 DHCR24 EBP MSMO1
4 steroid metabolic process GO:0008202 9.7 CYP17A1 CYP21A2 CYP51A1 DHCR24 EBP MSMO1
5 cholesterol metabolic process GO:0008203 9.69 CYP51A1 DHCR24 EBP
6 sterol biosynthetic process GO:0016126 9.65 CYP51A1 DHCR24 EBP MSMO1 SC5D
7 cholesterol biosynthetic process via desmosterol GO:0033489 9.58 DHCR24 EBP SC5D
8 cholesterol biosynthetic process via lathosterol GO:0033490 9.54 DHCR24 EBP SC5D
9 regulation of cholesterol biosynthetic process GO:0045540 9.52 CYP51A1 SC5D
10 glucocorticoid biosynthetic process GO:0006704 9.49 CYP17A1 CYP21A2
11 demethylation GO:0070988 9.48 CYP51A1 POR
12 sterol metabolic process GO:0016125 9.43 CYP17A1 CYP19A1 CYP21A2 CYP51A1 DHCR24 EBP
13 steroid biosynthetic process GO:0006694 9.23 CYP17A1 CYP19A1 CYP21A2 CYP51A1 DHCR24 EBP

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

id Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.56 CYP17A1 CYP19A1 CYP21A2 CYP51A1
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.46 CYP17A1 CYP19A1 CYP21A2 CYP51A1
3 iron ion binding GO:0005506 9.43 CYP17A1 CYP19A1 CYP21A2 CYP51A1 MSMO1 SC5D
4 flavin adenine dinucleotide binding GO:0050660 9.4 DHCR24 POR
5 oxygen binding GO:0019825 9.37 CYP17A1 CYP19A1
6 steroid hydroxylase activity GO:0008395 9.32 CYP19A1 CYP21A2
7 oxidoreductase activity GO:0016491 9.23 CYP17A1 CYP19A1 CYP21A2 CYP51A1 DHCR24 MSMO1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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