ABS1
MCID: ANT042
MIFTS: 33

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

Categories: Genetic diseases

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

MalaCards integrated aliases for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

Name: Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 58 30 13 6 74
Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis 76 41
Abs1 58 76
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 76
Antley-Bixler Syndrome with Disordered Steroidogenesis 74
Cytochrome P450 Oxidoreductase Deficiency 76
Por Deficiency 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
see also antley-bixler syndrome (abs) with normal steroidogenesis
majority of por deficiency patients have an abs-like phenotype
some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis


HPO:

33
antley-bixler syndrome with genital anomalies and disordered steroidogenesis:
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 58 The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010). (201750)

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 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency and cytochrome p450 oxidoreductase deficiency. 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, ovary and placenta, and related phenotypes are ambiguous genitalia and malar flattening

UniProtKB/Swiss-Prot : 76 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:

# Related Disease Score Top Affiliating Genes
1 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 13.0
2 cytochrome p450 oxidoreductase deficiency 13.0
3 aromatase deficiency 11.9
4 bartter syndrome, type 1, antenatal 11.8
5 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.3
6 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.1
7 antley-bixler syndrome 10.1
8 amenorrhea 10.1
9 lipoid congenital adrenal hyperplasia 10.0

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...

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

33 (show all 49)
# Description HPO Frequency HPO Source Accession
1 ambiguous genitalia 33 occasional (7.5%) HP:0000062
2 malar flattening 33 HP:0000272
3 hypertelorism 33 HP:0000316
4 frontal bossing 33 HP:0002007
5 scoliosis 33 HP:0002650
6 depressed nasal bridge 33 HP:0005280
7 microcephaly 33 HP:0000252
8 laryngomalacia 33 HP:0001601
9 brachycephaly 33 HP:0000248
10 abnormality of metabolism/homeostasis 33 HP:0001939
11 cloverleaf skull 33 HP:0002676
12 cryptorchidism 33 HP:0000028
13 horseshoe kidney 33 HP:0000085
14 abnormality of the pinna 33 HP:0000377
15 abnormality of the endocrine system 33 HP:0000818
16 hypospadias 33 HP:0000047
17 arnold-chiari malformation 33 HP:0002308
18 arachnodactyly 33 HP:0001166
19 polycystic ovaries 33 HP:0000147
20 conductive hearing impairment 33 HP:0000405
21 choanal atresia 33 HP:0000453
22 radioulnar synostosis 33 HP:0002974
23 midface retrusion 33 HP:0011800
24 proptosis 33 HP:0000520
25 craniosynostosis 33 HP:0001363
26 oligohydramnios 33 HP:0001562
27 hemivertebrae 33 HP:0002937
28 bifid scrotum 33 HP:0000048
29 tarsal synostosis 33 HP:0008368
30 micropenis 33 HP:0000054
31 scrotal hypoplasia 33 HP:0000046
32 choanal stenosis 33 HP:0000452
33 low maternal serum estriol 33 HP:0008073
34 rocker bottom foot 33 HP:0001838
35 femoral bowing 33 HP:0002980
36 camptodactyly 33 HP:0012385
37 ulnar bowing 33 HP:0003031
38 small for gestational age 33 HP:0001518
39 labial hypoplasia 33 HP:0000066
40 chordee 33 HP:0000041
41 humeroradial synostosis 33 HP:0003041
42 carpal synostosis 33 HP:0009702
43 clitoral hypertrophy 33 HP:0008665
44 joint contracture of the hand 33 HP:0009473
45 maternal virilization in pregnancy 33 HP:0008072
46 bronchomalacia 33 HP:0002780
47 vesicovaginal fistula 33 HP:0001586
48 abnormality of abdomen morphology 33 HP:0001438
49 abnormalities of placenta or umbilical cord 33 HP:0001194

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
proptosis

Skeletal Spine:
scoliosis
hemivertebrae

Head And Neck Head:
microcephaly
brachycephaly

Skeletal Skull:
cloverleaf skull
craniosynostosis

Genitourinary Kidneys:
horseshoe kidney

Neurologic Central Nervous System:
arnold-chiari malformation

Skeletal Limbs:
radioulnar synostosis
femoral bowing
ulnar bowing
radiohumeral synostosis
elbow synostosis
more
Skeletal Feet:
tarsal synostosis
rocker-bottom feet

Growth Other:
small for gestational age

Respiratory Airways:
bronchomalacia

Genitourinary Internal Genitalia Female:
vesicovaginal fistula
polycystic ovary

Prenatal Manifestations Placenta And Umbilical Cord:
two vessel cord

Laboratory Abnormalities:
normal baseline cortisol
blunted cortisol response to adrenocorticotropic hormone (acth)
elevated 17-hydroxyprogesterone
mildly elevated acth
elevated progesterone
more
Head And Neck Face:
frontal bossing
midface hypoplasia
temporal bossing

Head And Neck Nose:
depressed nasal bridge
choanal atresia
choanal stenosis

Respiratory Larynx:
laryngomalacia

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
bifid scrotum
micropenis
chordee
hypoplastic scrotum

Skeletal Hands:
arachnodactyly
camptodactyly
carpal synostosis

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary External Genitalia Female:
clitoromegaly
hypoplastic labia
fused labia
single urogenital orifice

Head And Neck Ears:
hearing loss, conductive
simple ears

Abdomen Gastrointestinal:
anteriorly places anus

Endocrine Features:
adrenal crisis

Prenatal Manifestations Maternal:
maternal virilization (midpregnancy)
low maternal serum estriol (e(3))

Clinical features from OMIM:

201750

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:

# Genetic test Affiliating Genes
1 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 30 POR

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:

42
Kidney, Ovary, Placenta

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

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

(show all 21)
# Title Authors Year
1
In vitro fertilization-frozen embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency: a case report. ( 29069987 )
2018
2
Cytochrome P450 Oxidoreductase Deficiency: Novel Cause of Ambiguity with Primary Amenorrhea. ( 28459039 )
2017
3
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review. ( 28288674 )
2017
4
Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects. ( 25294558 )
2014
5
Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement of urinary pregnanetriolone/ tetrahydroxycortisone ratio and 11β-hydroxyandrosterone. ( 22273564 )
2012
6
Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency. ( 21808038 )
2011
7
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect. ( 19884324 )
2010
8
Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency. ( 20409737 )
2010
9
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. ( 19618668 )
2009
10
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. ( 19258400 )
2009
11
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency. ( 18559916 )
2008
12
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. ( 16470797 )
2006
13
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. ( 16439592 )
2006
14
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. ( 16608896 )
2006
15
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. ( 15483095 )
2005
16
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. ( 15793702 )
2005
17
Antley-Bixler syndrome with radioulnar synostosis. ( 14513299 )
2004
18
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. ( 14758361 )
2004
19
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. ( 15220035 )
2004
20
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. ( 12116245 )
2002
21
A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency. ( 9360545 )
1997

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:

76
# 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 (show top 50) (show all 130)
# 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.1475T> A (p.Val492Glu) single nucleotide variant Pathogenic rs28931606 GRCh38 Chromosome 7, 75985655: 75985655
3 POR NM_000941.2(POR): c.859G> C (p.Ala287Pro) single nucleotide variant Pathogenic rs121912974 GRCh37 Chromosome 7, 75612866: 75612866
4 POR NM_000941.2(POR): c.859G> C (p.Ala287Pro) single nucleotide variant Pathogenic rs121912974 GRCh38 Chromosome 7, 75983548: 75983548
5 POR NM_000941.2(POR): c.731+1G> A single nucleotide variant Pathogenic rs786205099 GRCh37 Chromosome 7, 75610925: 75610925
6 POR NM_000941.2(POR): c.731+1G> A single nucleotide variant Pathogenic rs786205099 GRCh38 Chromosome 7, 75981607: 75981607
7 POR NM_000941.2(POR): c.1370G> A (p.Arg457His) single nucleotide variant Pathogenic/Likely pathogenic rs28931608 GRCh37 Chromosome 7, 75614497: 75614497
8 POR NM_000941.2(POR): c.1370G> A (p.Arg457His) single nucleotide variant Pathogenic/Likely pathogenic rs28931608 GRCh38 Chromosome 7, 75985179: 75985179
9 POR NM_000941.2(POR): c.1329dupC (p.Ile444Hisfs) duplication Pathogenic rs786205875 GRCh37 Chromosome 7, 75614456: 75614456
10 POR NM_000941.2(POR): c.1329dupC (p.Ile444Hisfs) duplication Pathogenic rs786205875 GRCh38 Chromosome 7, 75985138: 75985138
11 POR NM_000941.2(POR): c.1733A> G (p.Tyr578Cys) single nucleotide variant Pathogenic rs121912975 GRCh37 Chromosome 7, 75615304: 75615304
12 POR NM_000941.2(POR): c.1733A> G (p.Tyr578Cys) single nucleotide variant Pathogenic rs121912975 GRCh38 Chromosome 7, 75985986: 75985986
13 POR NM_000941.2(POR): c.1835_1858del24 (p.Leu612_Trp620delinsArg) deletion Pathogenic rs786205876 GRCh37 Chromosome 7, 75615496: 75615519
14 POR NM_000941.2(POR): c.1835_1858del24 (p.Leu612_Trp620delinsArg) deletion Pathogenic rs786205876 GRCh38 Chromosome 7, 75986178: 75986201
15 POR NM_000941.2(POR): c.15A> G (p.Gly5=) single nucleotide variant Likely benign rs10262966 GRCh37 Chromosome 7, 75583325: 75583325
16 POR NM_000941.2(POR): c.15A> G (p.Gly5=) single nucleotide variant Likely benign rs10262966 GRCh38 Chromosome 7, 75954007: 75954007
17 POR NM_000941.2(POR): c.568_580dupTACGTGGACAAGC (p.Arg194Leufs) duplication Pathogenic rs786205878 GRCh37 Chromosome 7, 75610417: 75610429
18 POR NM_000941.2(POR): c.568_580dupTACGTGGACAAGC (p.Arg194Leufs) duplication Pathogenic rs786205878 GRCh38 Chromosome 7, 75981099: 75981111
19 POR NM_000941.2(POR): c.1615G> A (p.Gly539Arg) single nucleotide variant Pathogenic rs121912976 GRCh37 Chromosome 7, 75615113: 75615113
20 POR NM_000941.2(POR): c.1615G> A (p.Gly539Arg) single nucleotide variant Pathogenic rs121912976 GRCh38 Chromosome 7, 75985795: 75985795
21 POR NM_000941.2(POR): c.1067-13C> G single nucleotide variant Benign rs4732516 GRCh37 Chromosome 7, 75614082: 75614082
22 POR NM_000941.2(POR): c.1067-13C> G single nucleotide variant Benign rs4732516 GRCh38 Chromosome 7, 75984764: 75984764
23 POR NM_000941.2(POR): c.1455T> C (p.Ala485=) single nucleotide variant Benign rs2228104 GRCh37 Chromosome 7, 75614953: 75614953
24 POR NM_000941.2(POR): c.1455T> C (p.Ala485=) single nucleotide variant Benign rs2228104 GRCh38 Chromosome 7, 75985635: 75985635
25 POR NM_000941.2(POR): c.571G> C (p.Val191Leu) single nucleotide variant Uncertain significance rs201513102 GRCh37 Chromosome 7, 75610420: 75610420
26 POR NM_000941.2(POR): c.571G> C (p.Val191Leu) single nucleotide variant Uncertain significance rs201513102 GRCh38 Chromosome 7, 75981102: 75981102
27 POR NM_000941.2(POR): c.387A> G (p.Pro129=) single nucleotide variant Benign/Likely benign rs1135612 GRCh37 Chromosome 7, 75609677: 75609677
28 POR NM_000941.2(POR): c.387A> G (p.Pro129=) single nucleotide variant Benign/Likely benign rs1135612 GRCh38 Chromosome 7, 75980359: 75980359
29 POR NM_000941.2(POR): c.1248+12C> T single nucleotide variant Benign/Likely benign rs2286822 GRCh37 Chromosome 7, 75614288: 75614288
30 POR NM_000941.2(POR): c.1248+12C> T single nucleotide variant Benign/Likely benign rs2286822 GRCh38 Chromosome 7, 75984970: 75984970
31 POR NM_000941.2(POR): c.1508C> T (p.Ala503Val) single nucleotide variant Benign/Likely benign rs1057868 GRCh37 Chromosome 7, 75615006: 75615006
32 POR NM_000941.2(POR): c.1508C> T (p.Ala503Val) single nucleotide variant Benign/Likely benign rs1057868 GRCh38 Chromosome 7, 75985688: 75985688
33 POR NM_000941.2(POR): c.1716G> A (p.Ser572=) single nucleotide variant Benign/Likely benign rs1057870 GRCh38 Chromosome 7, 75985969: 75985969
34 POR NM_000941.2(POR): c.1716G> A (p.Ser572=) single nucleotide variant Benign/Likely benign rs1057870 GRCh37 Chromosome 7, 75615287: 75615287
35 POR NM_000941.2(POR): c.-33G> T single nucleotide variant Uncertain significance rs72553977 GRCh37 Chromosome 7, 75544469: 75544469
36 POR NM_000941.2(POR): c.-33G> T single nucleotide variant Uncertain significance rs72553977 GRCh38 Chromosome 7, 75915151: 75915151
37 POR NM_000941.2(POR): c.-5G> C single nucleotide variant Uncertain significance rs886062438 GRCh37 Chromosome 7, 75544497: 75544497
38 POR NM_000941.2(POR): c.-5G> C single nucleotide variant Uncertain significance rs886062438 GRCh38 Chromosome 7, 75915179: 75915179
39 POR NM_000941.2(POR): c.-5G> T single nucleotide variant Uncertain significance rs886062438 GRCh37 Chromosome 7, 75544497: 75544497
40 POR NM_000941.2(POR): c.-5G> T single nucleotide variant Uncertain significance rs886062438 GRCh38 Chromosome 7, 75915179: 75915179
41 POR NM_000941.2(POR): c.169T> C (p.Phe57Leu) single nucleotide variant Uncertain significance rs782711779 GRCh37 Chromosome 7, 75583479: 75583479
42 POR NM_000941.2(POR): c.169T> C (p.Phe57Leu) single nucleotide variant Uncertain significance rs782711779 GRCh38 Chromosome 7, 75954161: 75954161
43 POR NM_000941.2(POR): c.517-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41299496 GRCh37 Chromosome 7, 75610362: 75610362
44 POR NM_000941.2(POR): c.517-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41299496 GRCh38 Chromosome 7, 75981044: 75981044
45 POR NM_000941.2(POR): c.744C> T (p.Tyr248=) single nucleotide variant Uncertain significance rs201786397 GRCh37 Chromosome 7, 75611554: 75611554
46 POR NM_000941.2(POR): c.744C> T (p.Tyr248=) single nucleotide variant Uncertain significance rs201786397 GRCh38 Chromosome 7, 75982236: 75982236
47 POR NM_000941.2(POR): c.1104G> A (p.Thr368=) single nucleotide variant Uncertain significance rs150414675 GRCh38 Chromosome 7, 75984814: 75984814
48 POR NM_000941.2(POR): c.1104G> A (p.Thr368=) single nucleotide variant Uncertain significance rs150414675 GRCh37 Chromosome 7, 75614132: 75614132
49 POR NM_000941.2(POR): c.1564C> T (p.Arg522Cys) single nucleotide variant Uncertain significance rs782533830 GRCh38 Chromosome 7, 75985744: 75985744
50 POR NM_000941.2(POR): c.1564C> T (p.Arg522Cys) single nucleotide variant Uncertain significance rs782533830 GRCh37 Chromosome 7, 75615062: 75615062

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...

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