ABS1
MCID: ANT042
MIFTS: 28

Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis (ABS1) malady

Category: Genetic diseases (common)

Aliases & Classifications for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Aliases & Descriptions for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

Name: Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 52 12 68
Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis 70 27
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 70
Antley-Bixler Syndrome with Disordered Steroidogenesis 68
 
Cytochrome P450 Oxidoreductase Deficiency 70
Por Deficiency 70
Abs1 70

Characteristics:

HPO:

64
antley-bixler syndrome with genital anomalies and disordered steroidogenesis:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 201750
MeSH39 D054882

Summaries for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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OMIM:52 The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral... (201750) more...

MalaCards based summary: Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis, also known as antley-bixler syndrome, with genital anomalies and disordered steroidogenesis, is related to cytochrome p450 oxidoreductase deficiency and bartter syndrome, type 1, and has symptoms including cryptorchidism, chordee and scrotal hypoplasia. An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (Cytochrome P450 Oxidoreductase), and among its related pathways is Cytochrome P450 - arranged by substrate type. Affiliated tissues include placenta, ovary and kidney.

UniProtKB/Swiss-Prot:70 Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures.

Related Diseases for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Diseases related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cytochrome p450 oxidoreductase deficiency11.5
2bartter syndrome, type 111.4
3disordered steroidogenesis due to cytochrome p450 oxidoreductase11.2
4dyt1 early-onset isolated dystonia9.8MIR4651, POR
5cerebral cavernous malformations-19.8MIR4651, POR
6epilepsy, progressive myoclonic 3, with or without intracellular inclusions9.7MIR4651, POR

Graphical network of diseases related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:



Diseases related to antley-bixler syndrome with genital anomalies and disordered steroidogenesis

Symptoms & Phenotypes for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Symptoms by clinical synopsis from OMIM:

201750

Clinical features from OMIM:

201750

Human phenotypes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

 64 (show all 49)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 chordee64 HP:0000041
3 scrotal hypoplasia64 HP:0000046
4 hypospadias64 HP:0000047
5 bifid scrotum64 HP:0000048
6 micropenis64 HP:0000054
7 ambiguous genitalia64 HP:0000062
8 labial hypoplasia64 HP:0000066
9 horseshoe kidney64 HP:0000085
10 polycystic ovaries64 HP:0000147
11 brachycephaly64 HP:0000248
12 microcephaly64 HP:0000252
13 malar flattening64 HP:0000272
14 hypertelorism64 HP:0000316
15 abnormality of the pinna64 HP:0000377
16 conductive hearing impairment64 HP:0000405
17 choanal stenosis64 HP:0000452
18 choanal atresia64 HP:0000453
19 proptosis64 HP:0000520
20 abnormality of the endocrine system64 HP:0000818
21 arachnodactyly64 HP:0001166
22 abnormalities of placenta or umbilical cord64 HP:0001194
23 craniosynostosis64 HP:0001363
24 abnormality of abdomen morphology64 HP:0001438
25 small for gestational age64 HP:0001518
26 oligohydramnios64 HP:0001562
27 vesicovaginal fistula64 HP:0001586
28 laryngomalacia64 HP:0001601
29 rocker bottom foot64 HP:0001838
30 abnormality of metabolism/homeostasis64 HP:0001939
31 frontal bossing64 HP:0002007
32 arnold-chiari malformation64 HP:0002308
33 scoliosis64 HP:0002650
34 cloverleaf skull64 HP:0002676
35 bronchomalacia64 HP:0002780
36 hemivertebrae64 HP:0002937
37 radioulnar synostosis64 HP:0002974
38 femoral bowing64 HP:0002980
39 ulnar bowing64 HP:0003031
40 humeroradial synostosis64 HP:0003041
41 depressed nasal bridge64 HP:0005280
42 maternal virilization in pregnancy64 HP:0008072
43 low maternal serum estriol64 HP:0008073
44 tarsal synostosis64 HP:0008368
45 clitoral hypertrophy64 HP:0008665
46 joint contracture of the hand64 HP:0009473
47 carpal synostosis64 HP:0009702
48 midface retrusion64 HP:0011800
49 camptodactyly64 HP:0012385

Drugs & Therapeutics for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

Genetic Tests for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Genetic tests related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

id Genetic test Affiliating Genes
1 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis27

Anatomical Context for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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MalaCards organs/tissues related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

36
Placenta, Ovary, Kidney

Publications for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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UniProtKB/Swiss-Prot genetic disease variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

70
id Symbol AA change Variation ID SNP ID
1PORp.Ala284ProVAR_021155
2PORp.Arg454HisVAR_021156
3PORp.Val489GluVAR_021157
4PORp.Tyr575CysVAR_021159

Clinvar genetic disease variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PORNM_ 000941.2(POR): c.1475T> A (p.Val492Glu)SNVPathogenicrs28931606GRCh37Chr 7, 75614973: 75614973
2PORNM_ 000941.2(POR): c.859G> C (p.Ala287Pro)SNVPathogenicrs121912974GRCh37Chr 7, 75612866: 75612866
3PORNM_ 000941.2(POR): c.731+1G> ASNVPathogenicrs786205099GRCh37Chr 7, 75610925: 75610925
4PORNM_ 000941.2(POR): c.1370G> A (p.Arg457His)SNVPathogenicrs28931608GRCh37Chr 7, 75614497: 75614497
5PORNM_ 000941.2(POR): c.1329dupC (p.Ile444Hisfs)duplicationPathogenicrs786205875GRCh37Chr 7, 75614456: 75614456
6PORNM_ 000941.2(POR): c.1733A> G (p.Tyr578Cys)SNVPathogenicrs121912975GRCh37Chr 7, 75615304: 75615304
7PORNM_ 000941.2(POR): c.1835_ 1858del24 (p.Leu612_ Trp620delinsArg)deletionPathogenicrs786205876GRCh37Chr 7, 75615496: 75615519
8PORNM_ 000941.2(POR): c.568_ 580dupTACGTGGACAAGC (p.Arg194Leufs)duplicationPathogenicrs786205878GRCh37Chr 7, 75610417: 75610429
9PORNM_ 000941.2(POR): c.1615G> A (p.Gly539Arg)SNVPathogenicrs121912976GRCh37Chr 7, 75615113: 75615113

Expression for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Search GEO for disease gene expression data for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis.

Pathways for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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GO Terms for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Sources for Antley-Bixler Syndrome with Genital Anomalies and 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