ABS1
MCID: ANT042
MIFTS: 28

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

Categories: Genetic diseases

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

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

Name: Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 54 13 69
Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis 66 29
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 66
Antley-Bixler Syndrome with Disordered Steroidogenesis 69
Cytochrome P450 Oxidoreductase Deficiency 66
Por Deficiency 66
Abs1 66

Characteristics:

HPO:

32
antley-bixler syndrome with genital anomalies and disordered steroidogenesis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 201750
MeSH 42 D054882

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

OMIM : 54 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 malar flattening, hypertelorism and frontal bossing. An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (Cytochrome P450 Oxidoreductase), and among its related pathways/superpathways is Cytochrome P450 - arranged by substrate type. Affiliated tissues include kidney, placenta and ovary.

UniProtKB/Swiss-Prot : 66 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...

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

id Related Disease Score Top Affiliating Genes
1 cytochrome p450 oxidoreductase deficiency 11.5
2 bartter syndrome, type 1 11.4
3 disordered steroidogenesis due to cytochrome p450 oxidoreductase 11.2
4 dyt1 early-onset isolated dystonia 9.8 MIR4651 POR
5 cerebral cavernous malformations-1 9.8 MIR4651 POR
6 epilepsy, progressive myoclonic 3, with or without intracellular inclusions 9.7 MIR4651 POR

Graphical network of the top 20 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...

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:

32 (show all 49)
id Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 frontal bossing 32 HP:0002007
4 scoliosis 32 HP:0002650
5 depressed nasal bridge 32 HP:0005280
6 microcephaly 32 HP:0000252
7 laryngomalacia 32 HP:0001601
8 brachycephaly 32 HP:0000248
9 abnormality of metabolism/homeostasis 32 HP:0001939
10 cloverleaf skull 32 HP:0002676
11 cryptorchidism 32 HP:0000028
12 horseshoe kidney 32 HP:0000085
13 abnormality of the pinna 32 HP:0000377
14 abnormality of the endocrine system 32 HP:0000818
15 hypospadias 32 HP:0000047
16 arnold-chiari malformation 32 HP:0002308
17 arachnodactyly 32 HP:0001166
18 polycystic ovaries 32 HP:0000147
19 conductive hearing impairment 32 HP:0000405
20 choanal atresia 32 HP:0000453
21 radioulnar synostosis 32 HP:0002974
22 midface retrusion 32 HP:0011800
23 proptosis 32 HP:0000520
24 craniosynostosis 32 HP:0001363
25 oligohydramnios 32 HP:0001562
26 hemivertebrae 32 HP:0002937
27 ambiguous genitalia 32 HP:0000062
28 bifid scrotum 32 HP:0000048
29 tarsal synostosis 32 HP:0008368
30 scrotal hypoplasia 32 HP:0000046
31 micropenis 32 HP:0000054
32 choanal stenosis 32 HP:0000452
33 low maternal serum estriol 32 HP:0008073
34 rocker bottom foot 32 HP:0001838
35 femoral bowing 32 HP:0002980
36 camptodactyly 32 HP:0012385
37 ulnar bowing 32 HP:0003031
38 small for gestational age 32 HP:0001518
39 labial hypoplasia 32 HP:0000066
40 chordee 32 HP:0000041
41 humeroradial synostosis 32 HP:0003041
42 carpal synostosis 32 HP:0009702
43 clitoral hypertrophy 32 HP:0008665
44 joint contracture of the hand 32 HP:0009473
45 maternal virilization in pregnancy 32 HP:0008072
46 bronchomalacia 32 HP:0002780
47 abnormality of abdomen morphology 32 HP:0001438
48 abnormalities of placenta or umbilical cord 32 HP:0001194
49 vesicovaginal fistula 32 HP:0001586

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

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

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

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 Steroidogenesis 29

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

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

39
Kidney, Placenta, Ovary

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 POR p.Ala284Pro VAR_021155
2 POR p.Arg454His VAR_021156
3 POR p.Val489Glu VAR_021157
4 POR p.Tyr575Cys VAR_021159

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 POR NM_000941.2(POR): c.1475T> A (p.Val492Glu) single nucleotide variant Pathogenic rs28931606 GRCh37 Chromosome 7, 75614973: 75614973
2 POR NM_000941.2(POR): c.859G> C (p.Ala287Pro) single nucleotide variant Pathogenic rs121912974 GRCh37 Chromosome 7, 75612866: 75612866
3 POR NM_000941.2(POR): c.731+1G> A single nucleotide variant Pathogenic rs786205099 GRCh37 Chromosome 7, 75610925: 75610925
4 POR NM_000941.2(POR): c.1370G> A (p.Arg457His) single nucleotide variant Pathogenic rs28931608 GRCh37 Chromosome 7, 75614497: 75614497
5 POR NM_000941.2(POR): c.1329dupC (p.Ile444Hisfs) duplication Pathogenic rs786205875 GRCh37 Chromosome 7, 75614456: 75614456
6 POR NM_000941.2(POR): c.1733A> G (p.Tyr578Cys) single nucleotide variant Pathogenic rs121912975 GRCh37 Chromosome 7, 75615304: 75615304
7 POR NM_000941.2(POR): c.1835_1858del24 (p.Leu612_Trp620delinsArg) deletion Pathogenic rs786205876 GRCh37 Chromosome 7, 75615496: 75615519
8 POR NM_000941.2(POR): c.568_580dupTACGTGGACAAGC (p.Arg194Leufs) duplication Pathogenic rs786205878 GRCh37 Chromosome 7, 75610417: 75610429
9 POR NM_000941.2(POR): c.1615G> A (p.Gly539Arg) single nucleotide variant Pathogenic rs121912976 GRCh37 Chromosome 7, 75615113: 75615113

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

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

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

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

Sources for Antley-Bixler Syndrome with Genital Anomalies and 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
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44 MGI
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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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