ABS1
MCID: ANT042
MIFTS: 36

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

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 70
Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis 72 39
Abs1 57 72
Antley-Bixler Syndrome with Genital Anomaly and Disorder of Steroidogenesis 58
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 72
Ambiguous Genitalia-Disordered Steroidogenesis Antley-Bixler Syndrome 58
Antley-Bixler Syndrome with Disordered Steroidogenesis 70
Cytochrome P450 Oxidoreductase Deficiency 72
Antley-Bixler Syndrome Phenotype 44
Por Deficiency 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
antley-bixler syndrome with genital anomalies and disordered steroidogenesis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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) (Updated 05-Apr-2021)

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 bartter syndrome, type 1, antenatal. An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (Cytochrome P450 Oxidoreductase). Affiliated tissues include kidney and ovary, and related phenotypes are ambiguous genitalia and frontal bossing

UniProtKB/Swiss-Prot : 72 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...

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:

31 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 ambiguous genitalia 31 occasional (7.5%) HP:0000062
2 frontal bossing 31 HP:0002007
3 scoliosis 31 HP:0002650
4 depressed nasal bridge 31 HP:0005280
5 hypertelorism 31 HP:0000316
6 microcephaly 31 HP:0000252
7 brachycephaly 31 HP:0000248
8 cryptorchidism 31 HP:0000028
9 horseshoe kidney 31 HP:0000085
10 arachnodactyly 31 HP:0001166
11 polycystic ovaries 31 HP:0000147
12 conductive hearing impairment 31 HP:0000405
13 micropenis 31 HP:0000054
14 bifid scrotum 31 HP:0000048
15 labial hypoplasia 31 HP:0000066
16 choanal atresia 31 HP:0000453
17 laryngomalacia 31 HP:0001601
18 hemivertebrae 31 HP:0002937
19 proptosis 31 HP:0000520
20 malar flattening 31 HP:0000272
21 hypospadias 31 HP:0000047
22 arnold-chiari malformation 31 HP:0002308
23 radioulnar synostosis 31 HP:0002974
24 craniosynostosis 31 HP:0001363
25 abnormality of the endocrine system 31 HP:0000818
26 midface retrusion 31 HP:0011800
27 anteriorly placed anus 31 HP:0001545
28 scrotal hypoplasia 31 HP:0000046
29 cloverleaf skull 31 HP:0002676
30 tarsal synostosis 31 HP:0008368
31 oligohydramnios 31 HP:0001562
32 single umbilical artery 31 HP:0001195
33 rocker bottom foot 31 HP:0001838
34 femoral bowing 31 HP:0002980
35 small for gestational age 31 HP:0001518
36 ulnar bowing 31 HP:0003031
37 camptodactyly 31 HP:0012385
38 choanal stenosis 31 HP:0000452
39 carpal synostosis 31 HP:0009702
40 humeroradial synostosis 31 HP:0003041
41 clitoral hypertrophy 31 HP:0008665
42 bronchomalacia 31 HP:0002780
43 chordee 31 HP:0000041
44 increased circulating acth level 31 HP:0003154
45 maternal virilization in pregnancy 31 HP:0008072
46 low maternal serum estriol 31 HP:0008073
47 joint contracture of the hand 31 HP:0009473
48 vesicovaginal fistula 31 HP:0001586
49 decreased circulating progesterone 31 HP:0008233
50 simple ear 31 HP:0020206

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
temporal bossing
midface hypoplasia

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

Head And Neck Head:
microcephaly
brachycephaly

Genitourinary Kidneys:
horseshoe kidney

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

Neurologic Central Nervous System:
arnold-chiari malformation

Skeletal Skull:
craniosynostosis
cloverleaf skull

Skeletal Feet:
tarsal synostosis
rocker-bottom feet

Growth Other:
small for gestational age

Genitourinary Internal Genitalia Female:
vesicovaginal fistula
polycystic ovary

Abdomen Gastrointestinal:
anteriorly places anus

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
Skeletal Spine:
scoliosis
hemivertebrae

Head And Neck Eyes:
hypertelorism
proptosis

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
arachnodactyly
camptodactyly
carpal synostosis

Respiratory Larynx:
laryngomalacia

Skeletal Limbs:
radioulnar synostosis
femoral bowing
ulnar bowing
radiohumeral synostosis
elbow synostosis
more
Genitourinary External Genitalia Female:
clitoromegaly
hypoplastic labia
fused labia
single urogenital orifice

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Respiratory Airways:
bronchomalacia

Head And Neck Ears:
hearing loss, conductive
simple ears

Endocrine Features:
adrenal crisis

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

Clinical features from OMIM®:

201750 (Updated 05-Apr-2021)

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

Cochrane evidence based reviews: antley-bixler syndrome phenotype

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:

40
Kidney, Ovary

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

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

(show top 50) (show all 53)
# Title Authors PMID Year
1
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 57 6
15793702 2005
2
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. 57 6
14758361 2004
3
Antley-Bixler syndrome with radioulnar synostosis. 57 6
14513299 2004
4
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. 57 6
12116245 2002
5
NGS targeted screening of 100 Scandinavian patients with coronal synostosis. 6
31837199 2020
6
A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene. 6
28841001 2017
7
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. 6
22162478 2012
8
Mutations of human cytochrome P450 reductase differentially modulate heme oxygenase-1 activity and oligomerization. 6
21741353 2011
9
Effects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitro. 6
20940534 2010
10
Spectrum of Antley-Bixler syndrome. 57
20818252 2010
11
Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase. 6
20732302 2010
12
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. 6
20124576 2010
13
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. 6
19837910 2009
14
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency. 6
18559916 2008
15
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. 6
16470797 2006
16
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. 6
15483095 2005
17
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. 57
15216541 2004
18
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. 6
15220035 2004
19
Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis. 57
12917333 2003
20
Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase. 57
11742006 2002
21
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 57
10633130 2000
22
A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency. 6
9360545 1997
23
Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient. 57
9332650 1997
24
Evaluation of physiological and molecular effect of variable virulence of Alternaria brassicae isolates in Brassica juncea, Sinapis alba and Camelina sativa. 61
32858425 2020
25
White matter integrity alternations associated with cocaine dependence and long-term abstinence: Preliminary findings. 61
31783090 2020
26
Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis. 61
32973886 2020
27
Modification of Threonine-1050 of SlBRI1 regulates BR Signalling and increases fruit yield of tomato. 61
31196007 2019
28
Genomic analysis of in vivo acquired resistance to colistin and rifampicin in Acinetobacter baumannii. 61
29127051 2018
29
Crystal Structure of Leiomodin 2 in Complex with Actin: A Structural and Functional Reexamination. 61
28834725 2017
30
Tropomodulins and Leiomodins: Actin Pointed End Caps and Nucleators in Muscles. 61
28494946 2017
31
Multimodal and Polymorphic Interactions between Anillin and Actin: Their Implications for Cytokinesis. 61
28147230 2017
32
How Leiomodin and Tropomodulin use a common fold for different actin assembly functions. 61
26370058 2015
33
Identification and functional analysis of tomato BRI1 and BAK1 receptor kinase phosphorylation sites. 61
23843605 2013
34
Sterol metabolism disorders and neurodevelopment-an update. 61
23798009 2013
35
Overexpression of a putative Arabidopsis BAHD acyltransferase causes dwarfism that can be rescued by brassinosteroid. 61
22956280 2012
36
Combined experimental and theoretical studies on the photophysical properties of cycloparaphenylenes. 61
22441238 2012
37
Nonlinear viscoelasticity of actin transiently cross-linked with mutant α-actinin-4. 61
21762701 2011
38
Two distinct regions of calponin share common binding sites on actin resulting in different modes of calponin-actin interaction. 61
20595006 2010
39
Volatile compounds profile and sensory evaluation of Beninese condiments produced by inocula of Bacillus subtilis. 61
20355065 2010
40
Functional capacity of dystrophins carrying deletions in the N-terminal actin-binding domain. 61
17588958 2007
41
Calponin binds G-actin and F-actin with similar affinity. 61
16901482 2006
42
Crystal structure of the actin-binding domain of alpha-actinin 1: evaluating two competing actin-binding models. 61
16698282 2006
43
Characterization of an actin-binding site within the talin FERM domain. 61
15465061 2004
44
The possible role of natural idiotopes in immune memory. 61
15559375 2004
45
Structure, crystal packing and molecular dynamics of the calponin-homology domain of Schizosaccharomyces pombe Rng2. 61
15272162 2004
46
Cloning the tomato curl3 gene highlights the putative dual role of the leucine-rich repeat receptor kinase tBRI1/SR160 in plant steroid hormone and peptide hormone signaling. 61
12468734 2002
47
The molecular basis for the autoregulation of calponin by isoform-specific C-terminal tail sequences. 61
11973344 2002
48
Characterization of a non-abscission mutant in Lupinus angustifolius. I. Genetic and structural aspects. 61
11159123 2001
49
Genetic analysis of the fimbrin-actin binding interaction in Saccharomyces cerevisiae. 61
7635312 1995
50
Behavior of the idiotypic network in conventional immune responses. III. Detection and enumeration of cells producing idiotypic and anti-idiotypic antibodies by a spot ELISA technique. 61
7954841 1994

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

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

6 (show top 50) (show all 157)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POR NM_000941.3(POR):c.568_580dup (p.Arg194fs) Duplication Pathogenic 16914 rs786205878 GRCh37: 7:75610416-75610417
GRCh38: 7:75981098-75981099
2 POR NM_000941.3(POR):c.1615G>A (p.Gly539Arg) SNV Pathogenic 16915 rs121912976 GRCh37: 7:75615113-75615113
GRCh38: 7:75985795-75985795
3 POR NM_000941.3(POR):c.1615G>A (p.Gly539Arg) SNV Pathogenic 16915 rs121912976 GRCh37: 7:75615113-75615113
GRCh38: 7:75985795-75985795
4 POR NM_000941.3(POR):c.1475T>A (p.Val492Glu) SNV Pathogenic 16901 rs28931606 GRCh37: 7:75614973-75614973
GRCh38: 7:75985655-75985655
5 POR NM_000941.3(POR):c.1706G>A (p.Cys569Tyr) SNV Pathogenic 16903 rs28931607 GRCh37: 7:75615277-75615277
GRCh38: 7:75985959-75985959
6 POR NM_000941.3(POR):c.1822G>T (p.Val608Phe) SNV Pathogenic 16904 rs72552772 GRCh37: 7:75615483-75615483
GRCh38: 7:75986165-75986165
7 POR NM_000941.3(POR):c.731+1G>A SNV Pathogenic 16905 rs786205099 GRCh37: 7:75610925-75610925
GRCh38: 7:75981607-75981607
8 POR NM_000941.3(POR):c.541T>G (p.Tyr181Asp) SNV Pathogenic 16906 rs72552771 GRCh37: 7:75610390-75610390
GRCh38: 7:75981072-75981072
9 POR NM_000941.3(POR):c.1370G>A (p.Arg457His) SNV Pathogenic 16907 rs28931608 GRCh37: 7:75614497-75614497
GRCh38: 7:75985179-75985179
10 POR NM_000941.3(POR):c.1733A>G (p.Tyr578Cys) SNV Pathogenic 16911 rs121912975 GRCh37: 7:75615304-75615304
GRCh38: 7:75985986-75985986
11 POR NM_000941.3(POR):c.1835_1858del (p.Leu612_Trp620delinsArg) Deletion Pathogenic 16912 rs786205876 GRCh37: 7:75615496-75615519
GRCh38: 7:75986178-75986201
12 POR NM_000941.3(POR):c.1571_1619dup (p.Ala541fs) Duplication Pathogenic 580516 rs1563435458 GRCh37: 7:75615068-75615069
GRCh38: 7:75985750-75985751
13 POR NM_000941.3(POR):c.1443C>A (p.Tyr481Ter) SNV Pathogenic 691923 rs373613946 GRCh37: 7:75614941-75614941
GRCh38: 7:75985623-75985623
14 POR NM_000941.3(POR):c.1329dup (p.Ile444fs) Duplication Pathogenic 16910 rs786205875 GRCh37: 7:75614450-75614451
GRCh38: 7:75985132-75985133
15 POR NM_000941.3(POR):c.859G>C (p.Ala287Pro) SNV Pathogenic 16902 rs121912974 GRCh37: 7:75612866-75612866
GRCh38: 7:75983548-75983548
16 POR NM_000941.3(POR):c.1685_1688dup (p.Leu564fs) Duplication Pathogenic 998356 GRCh37: 7:75615255-75615256
GRCh38: 7:75985937-75985938
17 POR NM_000941.3(POR):c.1660C>T (p.Arg554Ter) SNV Pathogenic 632506 rs782336856 GRCh37: 7:75615158-75615158
GRCh38: 7:75985840-75985840
18 POR NM_000941.3(POR):c.331C>T (p.Arg111Ter) SNV Pathogenic 1033152 GRCh37: 7:75608862-75608862
GRCh38: 7:75979544-75979544
19 POR NM_000941.3(POR):c.784_788delinsAAGATG (p.Tyr262fs) Indel Pathogenic 1033153 GRCh37: 7:75611594-75611598
GRCh38: 7:75982276-75982280
20 POR NM_000941.3(POR):c.1370G>A (p.Arg457His) SNV Pathogenic/Likely pathogenic 16907 rs28931608 GRCh37: 7:75614497-75614497
GRCh38: 7:75985179-75985179
21 POR NM_000941.3(POR):c.1363del (p.Gln455fs) Deletion Likely pathogenic 632505 rs781805159 GRCh37: 7:75614490-75614490
GRCh38: 7:75985172-75985172
22 POR NM_000941.3(POR):c.188+2T>C SNV Likely pathogenic 576622 rs936203749 GRCh37: 7:75583500-75583500
GRCh38: 7:75954182-75954182
23 POR NM_000941.3(POR):c.859G>C (p.Ala287Pro) SNV Conflicting interpretations of pathogenicity 16902 rs121912974 GRCh37: 7:75612866-75612866
GRCh38: 7:75983548-75983548
24 POR NM_000941.3(POR):c.399C>T (p.Asn133=) SNV Conflicting interpretations of pathogenicity 360699 rs181837747 GRCh37: 7:75609689-75609689
GRCh38: 7:75980371-75980371
25 POR NM_000941.3(POR):c.1660C>T (p.Arg554Ter) SNV Conflicting interpretations of pathogenicity 632506 rs782336856 GRCh37: 7:75615158-75615158
GRCh38: 7:75985840-75985840
26 POR NM_000941.3(POR):c.1891G>A (p.Val631Ile) SNV Conflicting interpretations of pathogenicity 284175 rs145782750 GRCh37: 7:75615552-75615552
GRCh38: 7:75986234-75986234
27 POR NM_000941.3(POR):c.687C>T (p.Ala229=) SNV Conflicting interpretations of pathogenicity 596382 rs72557906 GRCh37: 7:75610880-75610880
GRCh38: 7:75981562-75981562
28 POR NM_000941.3(POR):c.984C>T (p.Ala328=) SNV Conflicting interpretations of pathogenicity 618843 rs72557941 GRCh37: 7:75613092-75613092
GRCh38: 7:75983774-75983774
29 POR NM_000941.3(POR):c.517-4G>A SNV Conflicting interpretations of pathogenicity 360701 rs41299496 GRCh37: 7:75610362-75610362
GRCh38: 7:75981044-75981044
30 POR NM_000941.3(POR):c.1898+3G>A SNV Conflicting interpretations of pathogenicity 360720 rs41301439 GRCh37: 7:75615562-75615562
GRCh38: 7:75986244-75986244
31 POR NM_000941.3(POR):c.1815+8G>A SNV Conflicting interpretations of pathogenicity 360719 rs72557952 GRCh37: 7:75615394-75615394
GRCh38: 7:75986076-75986076
32 POR NM_000941.3(POR):c.369C>T (p.Ala123=) SNV Conflicting interpretations of pathogenicity 360698 rs41299490 GRCh37: 7:75609659-75609659
GRCh38: 7:75980341-75980341
33 POR NM_000941.3(POR):c.1953T>G (p.Ala651=) SNV Conflicting interpretations of pathogenicity 772655 rs370865328 GRCh37: 7:75615709-75615709
GRCh38: 7:75986391-75986391
34 POR NM_000941.3(POR):c.683C>T (p.Pro228Leu) SNV Conflicting interpretations of pathogenicity 436385 rs17853284 GRCh37: 7:75610876-75610876
GRCh38: 7:75981558-75981558
35 POR NM_000941.3(POR):c.87G>A (p.Thr29=) SNV Conflicting interpretations of pathogenicity 360691 rs41295381 GRCh37: 7:75583397-75583397
GRCh38: 7:75954079-75954079
36 POR NM_000941.3(POR):c.-5+8C>G SNV Uncertain significance 908539 GRCh37: 7:75544505-75544505
GRCh38: 7:75915187-75915187
37 POR NM_000941.3(POR):c.-5+9T>C SNV Uncertain significance 908540 GRCh37: 7:75544506-75544506
GRCh38: 7:75915188-75915188
38 POR NM_000941.3(POR):c.624G>A (p.Leu208=) SNV Uncertain significance 908616 GRCh37: 7:75610473-75610473
GRCh38: 7:75981155-75981155
39 POR NM_000941.3(POR):c.719G>A (p.Gly240Asp) SNV Uncertain significance 908617 GRCh37: 7:75610912-75610912
GRCh38: 7:75981594-75981594
40 POR NM_000941.3(POR):c.830C>T (p.Pro277Leu) SNV Uncertain significance 908618 GRCh37: 7:75611640-75611640
GRCh38: 7:75982322-75982322
41 POR NM_000941.3(POR):c.1265G>T (p.Trp422Leu) SNV Uncertain significance 908685 GRCh37: 7:75614392-75614392
GRCh38: 7:75985074-75985074
42 POR NM_000941.3(POR):c.1384G>A (p.Ala462Thr) SNV Uncertain significance 908686 GRCh37: 7:75614511-75614511
GRCh38: 7:75985193-75985193
43 POR NM_000941.3(POR):c.1398+10G>A SNV Uncertain significance 908687 GRCh37: 7:75614535-75614535
GRCh38: 7:75985217-75985217
44 POR NM_000941.3(POR):c.1398+15T>A SNV Uncertain significance 908688 GRCh37: 7:75614540-75614540
GRCh38: 7:75985222-75985222
45 POR NM_000941.3(POR):c.1491G>T (p.Leu497=) SNV Uncertain significance 771291 rs370326231 GRCh37: 7:75614989-75614989
GRCh38: 7:75985671-75985671
46 POR NM_000941.3(POR):c.*33C>T SNV Uncertain significance 908743 GRCh37: 7:75615832-75615832
GRCh38: 7:75986514-75986514
47 POR NM_000941.3(POR):c.*40T>G SNV Uncertain significance 908744 GRCh37: 7:75615839-75615839
GRCh38: 7:75986521-75986521
48 POR NM_000941.3(POR):c.*51C>T SNV Uncertain significance 908745 GRCh37: 7:75615850-75615850
GRCh38: 7:75986532-75986532
49 POR NM_000941.3(POR):c.*63C>T SNV Uncertain significance 908746 GRCh37: 7:75615862-75615862
GRCh38: 7:75986544-75986544
50 POR NM_000941.3(POR):c.112G>A (p.Val38Met) SNV Uncertain significance 909405 GRCh37: 7:75583422-75583422
GRCh38: 7:75954104-75954104

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

72
# 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

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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