MCID: ANT042
MIFTS: 19

Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis malady

Genetic diseases (common) category

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 46 9 22


Classifications:



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OMIM46 201750

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

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OMIM:46 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 and has symptoms including autosomal recessive inheritance, cryptorchidism and chordee. An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (P450 (cytochrome) oxidoreductase). Affiliated tissues include kidney, ovary and placenta.

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

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Symptoms 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

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

(show all 50)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cryptorchidism HP:0000028
3 chordee HP:0000041
4 scrotal hypoplasia HP:0000046
5 hypospadias HP:0000047
6 bifid scrotum HP:0000048
7 micropenis HP:0000054
8 clitoromegaly HP:0000057
9 ambiguous genitalia HP:0000062
10 labial hypoplasia HP:0000066
11 horseshoe kidney HP:0000085
12 polycystic ovaries HP:0000147
13 brachycephaly HP:0000248
14 microcephaly HP:0000252
15 malar flattening HP:0000272
16 hypertelorism HP:0000316
17 abnormality of the pinna HP:0000377
18 conductive hearing impairment HP:0000405
19 choanal stenosis HP:0000452
20 choanal atresia HP:0000453
21 proptosis HP:0000520
22 abnormality of the endocrine system HP:0000818
23 arachnodactyly HP:0001166
24 abnormalities of placenta or umbilical cord HP:0001194
25 craniosynostosis HP:0001363
26 abnormality of the abdomen HP:0001438
27 small for gestational age HP:0001518
28 oligohydramnios HP:0001562
29 vesicovaginal fistula HP:0001586
30 laryngomalacia HP:0001601
31 rocker bottom foot HP:0001838
32 abnormality of metabolism/homeostasis HP:0001939
33 frontal bossing HP:0002007
34 arnold-chiari malformation HP:0002308
35 scoliosis HP:0002650
36 cloverleaf skull HP:0002676
37 bronchomalacia HP:0002780
38 hemivertebrae HP:0002937
39 radioulnar synostosis HP:0002974
40 femoral bowing HP:0002980
41 ulnar bowing HP:0003031
42 humeroradial synostosis HP:0003041
43 depressed nasal bridge HP:0005280
44 maternal virilization in pregnancy HP:0008072
45 low maternal serum estriol HP:0008073
46 tarsal synostosis HP:0008368
47 joint contracture of the hand HP:0009473
48 carpal synostosis HP:0009702
49 midface retrusion HP:0011800
50 camptodactyly HP:0012385

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

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Drug clinical trials:

Search ClinicalTrials for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

Search 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 Steroidogenesis22

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:

31
Kidney, Ovary, Placenta

Animal Models for Antley-Bixler Syndrome with Genital Anomalies and Disordered... or affiliated genes

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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:

63
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)single nucleotide variantPathogenicrs28931606GRCh37Chr 7, 75614973: 75614973
2PORNM_000941.2(POR): c.859G> C (p.Ala287Pro)single nucleotide variantPathogenicrs121912974GRCh37Chr 7, 75612866: 75612866
3PORPOR, IVS6DS, G-A, +1single nucleotide variantPathogenic
4PORNM_000941.2(POR): c.1370G> A (p.Arg457His)single nucleotide variantPathogenicrs28931608GRCh37Chr 7, 75614497: 75614497
5PORPOR, 1-BP INS, 1329CinsertionPathogenic
6PORNM_000941.2(POR): c.1733A> G (p.Tyr578Cys)single nucleotide variantPathogenicrs121912975GRCh37Chr 7, 75615304: 75615304
7PORPOR, 24-BP DEL, NT1835deletionPathogenic
8PORPOR, 15A-Gsingle nucleotide variantPathogenic
9PORPOR, 13-BP INS, NT580insertionPathogenic
10PORNM_000941.2(POR): c.1615G> A (p.Gly539Arg)single nucleotide variantPathogenicrs121912976GRCh37Chr 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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet