MCID: ANT042
MIFTS: 32

Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

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 57 29 13 6 73
Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis 75 40
Abs1 57 75
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 75
Antley-Bixler Syndrome with Disordered Steroidogenesis 73
Cytochrome P450 Oxidoreductase Deficiency 75
Por Deficiency 75

Characteristics:

OMIM:

57
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:

32
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 : 57 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 ovary, kidney and placenta, and related phenotypes are malar flattening and hypertelorism

UniProtKB/Swiss-Prot : 75 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 12.8
2 cytochrome p450 oxidoreductase deficiency 11.6
3 bartter syndrome, type 1, antenatal 11.6

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

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

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

32 (show all 49)
# 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 occasional (7.5%) 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 vesicovaginal fistula 32 HP:0001586
48 abnormality of abdomen morphology 32 HP:0001438
49 abnormalities of placenta or umbilical cord 32 HP:0001194

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 29 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:

41
Ovary, Kidney, 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 12)
# Title Authors Year
1
Cytochrome P450 Oxidoreductase Deficiency: Novel Cause of Ambiguity with Primary Amenorrhea. ( 28459039 )
2017
2
In vitro fertilization-frozen embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency: a case report. ( 29069987 )
2017
3
Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects. ( 25294558 )
2014
4
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 11I^-hydroxyandrosterone. ( 22273564 )
2012
5
Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency. ( 21808038 )
2011
6
Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency. ( 20409737 )
2010
7
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect. ( 19884324 )
2010
8
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. ( 19258400 )
2009
9
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. ( 19618668 )
2009
10
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
11
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. ( 16608896 )
2006
12
Cytochrome P450 Oxidoreductase Deficiency ( 20301592 )
1993

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:

75
# 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 124)
# 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 Likely pathogenic rs28931608 GRCh37 Chromosome 7, 75614497: 75614497
8 POR NM_000941.2(POR): c.1370G> A (p.Arg457His) single nucleotide variant 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.568_580dupTACGTGGACAAGC (p.Arg194Leufs) duplication Pathogenic rs786205878 GRCh37 Chromosome 7, 75610417: 75610429
16 POR NM_000941.2(POR): c.568_580dupTACGTGGACAAGC (p.Arg194Leufs) duplication Pathogenic rs786205878 GRCh38 Chromosome 7, 75981099: 75981111
17 POR NM_000941.2(POR): c.1615G> A (p.Gly539Arg) single nucleotide variant Pathogenic rs121912976 GRCh37 Chromosome 7, 75615113: 75615113
18 POR NM_000941.2(POR): c.1615G> A (p.Gly539Arg) single nucleotide variant Pathogenic rs121912976 GRCh38 Chromosome 7, 75985795: 75985795
19 POR NM_000941.2(POR): c.571G> C (p.Val191Leu) single nucleotide variant Uncertain significance rs201513102 GRCh37 Chromosome 7, 75610420: 75610420
20 POR NM_000941.2(POR): c.571G> C (p.Val191Leu) single nucleotide variant Uncertain significance rs201513102 GRCh38 Chromosome 7, 75981102: 75981102
21 POR NM_000941.2(POR): c.387A> G (p.Pro129=) single nucleotide variant Likely benign rs1135612 GRCh37 Chromosome 7, 75609677: 75609677
22 POR NM_000941.2(POR): c.387A> G (p.Pro129=) single nucleotide variant Likely benign rs1135612 GRCh38 Chromosome 7, 75980359: 75980359
23 POR NM_000941.2(POR): c.1248+12C> T single nucleotide variant Likely benign rs2286822 GRCh37 Chromosome 7, 75614288: 75614288
24 POR NM_000941.2(POR): c.1248+12C> T single nucleotide variant Likely benign rs2286822 GRCh38 Chromosome 7, 75984970: 75984970
25 POR NM_000941.2(POR): c.1508C> T (p.Ala503Val) single nucleotide variant Likely benign rs1057868 GRCh37 Chromosome 7, 75615006: 75615006
26 POR NM_000941.2(POR): c.1508C> T (p.Ala503Val) single nucleotide variant Likely benign rs1057868 GRCh38 Chromosome 7, 75985688: 75985688
27 POR NM_000941.2(POR): c.1716G> A (p.Ser572=) single nucleotide variant Benign/Likely benign rs1057870 GRCh38 Chromosome 7, 75985969: 75985969
28 POR NM_000941.2(POR): c.1716G> A (p.Ser572=) single nucleotide variant Benign/Likely benign rs1057870 GRCh37 Chromosome 7, 75615287: 75615287
29 POR NM_000941.2(POR): c.-33G> T single nucleotide variant Uncertain significance rs72553977 GRCh37 Chromosome 7, 75544469: 75544469
30 POR NM_000941.2(POR): c.-33G> T single nucleotide variant Uncertain significance rs72553977 GRCh38 Chromosome 7, 75915151: 75915151
31 POR NM_000941.2(POR): c.-5G> C single nucleotide variant Uncertain significance rs886062438 GRCh37 Chromosome 7, 75544497: 75544497
32 POR NM_000941.2(POR): c.-5G> C single nucleotide variant Uncertain significance rs886062438 GRCh38 Chromosome 7, 75915179: 75915179
33 POR NM_000941.2(POR): c.-5G> T single nucleotide variant Uncertain significance rs886062438 GRCh38 Chromosome 7, 75915179: 75915179
34 POR NM_000941.2(POR): c.-5G> T single nucleotide variant Uncertain significance rs886062438 GRCh37 Chromosome 7, 75544497: 75544497
35 POR NM_000941.2(POR): c.169T> C (p.Phe57Leu) single nucleotide variant Uncertain significance rs782711779 GRCh37 Chromosome 7, 75583479: 75583479
36 POR NM_000941.2(POR): c.169T> C (p.Phe57Leu) single nucleotide variant Uncertain significance rs782711779 GRCh38 Chromosome 7, 75954161: 75954161
37 POR NM_000941.2(POR): c.517-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41299496 GRCh37 Chromosome 7, 75610362: 75610362
38 POR NM_000941.2(POR): c.517-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41299496 GRCh38 Chromosome 7, 75981044: 75981044
39 POR NM_000941.2(POR): c.744C> T (p.Tyr248=) single nucleotide variant Uncertain significance rs201786397 GRCh37 Chromosome 7, 75611554: 75611554
40 POR NM_000941.2(POR): c.744C> T (p.Tyr248=) single nucleotide variant Uncertain significance rs201786397 GRCh38 Chromosome 7, 75982236: 75982236
41 POR NM_000941.2(POR): c.1104G> A (p.Thr368=) single nucleotide variant Uncertain significance rs150414675 GRCh38 Chromosome 7, 75984814: 75984814
42 POR NM_000941.2(POR): c.1104G> A (p.Thr368=) single nucleotide variant Uncertain significance rs150414675 GRCh37 Chromosome 7, 75614132: 75614132
43 POR NM_000941.2(POR): c.1564C> T (p.Arg522Cys) single nucleotide variant Uncertain significance rs782533830 GRCh37 Chromosome 7, 75615062: 75615062
44 POR NM_000941.2(POR): c.1564C> T (p.Arg522Cys) single nucleotide variant Uncertain significance rs782533830 GRCh38 Chromosome 7, 75985744: 75985744
45 POR NM_000941.2(POR): c.1898+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41301439 GRCh37 Chromosome 7, 75615562: 75615562
46 POR NM_000941.2(POR): c.1898+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41301439 GRCh38 Chromosome 7, 75986244: 75986244
47 POR NM_000941.2(POR): c.*21C> A single nucleotide variant Uncertain significance rs782245884 GRCh37 Chromosome 7, 75615820: 75615820
48 POR NM_000941.2(POR): c.*21C> A single nucleotide variant Uncertain significance rs782245884 GRCh38 Chromosome 7, 75986502: 75986502
49 POR NM_000941.2(POR): c.*179G> A single nucleotide variant Uncertain significance rs184275273 GRCh38 Chromosome 7, 75986660: 75986660
50 POR NM_000941.2(POR): c.*179G> A single nucleotide variant Uncertain significance rs184275273 GRCh37 Chromosome 7, 75615978: 75615978

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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