Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

Sources:
¹²diseasecard, ²⁷GTR, ³⁷MedGen, ³⁹MeSH, ⁵²OMIM, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁷⁰UniProtKB/Swiss-Prot
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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 ⁵² ¹² ⁶⁸

Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis ⁷⁰ ²⁷

Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis ⁷⁰

Antley-Bixler Syndrome with Disordered Steroidogenesis ⁶⁸

Cytochrome P450 Oxidoreductase Deficiency ⁷⁰

Por Deficiency ⁷⁰

Abs1 ⁷⁰

Characteristics:

HPO:

⁶⁴

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

Classifications:

MalaCards categories:
Global: Genetic diseases (common)

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External Ids:

OMIM⁵² 201750

MedGen³⁷ C1860042, C3150099

MeSH³⁹ D054882

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

Sources:
³⁶MalaCards, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
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OMIM:⁵² 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 cryptorchidism, chordee and scrotal hypoplasia. An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (Cytochrome P450 Oxidoreductase), and among its related pathways is Cytochrome P450 - arranged by substrate type. Affiliated tissues include placenta, ovary and kidney.

UniProtKB/Swiss-Prot:⁷⁰ 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...

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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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 diseases related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

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

Sources:
⁵²OMIM, ⁶⁴The Human Phenotype Ontology
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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:

⁶⁴ (show all 49)

id	Description	HPO Source Accession
1	cryptorchidism⁶⁴	HP:0000028
2	chordee⁶⁴	HP:0000041
3	scrotal hypoplasia⁶⁴	HP:0000046
4	hypospadias⁶⁴	HP:0000047
5	bifid scrotum⁶⁴	HP:0000048
6	micropenis⁶⁴	HP:0000054
7	ambiguous genitalia⁶⁴	HP:0000062
8	labial hypoplasia⁶⁴	HP:0000066
9	horseshoe kidney⁶⁴	HP:0000085
10	polycystic ovaries⁶⁴	HP:0000147
11	brachycephaly⁶⁴	HP:0000248
12	microcephaly⁶⁴	HP:0000252
13	malar flattening⁶⁴	HP:0000272
14	hypertelorism⁶⁴	HP:0000316
15	abnormality of the pinna⁶⁴	HP:0000377
16	conductive hearing impairment⁶⁴	HP:0000405
17	choanal stenosis⁶⁴	HP:0000452
18	choanal atresia⁶⁴	HP:0000453
19	proptosis⁶⁴	HP:0000520
20	abnormality of the endocrine system⁶⁴	HP:0000818
21	arachnodactyly⁶⁴	HP:0001166
22	abnormalities of placenta or umbilical cord⁶⁴	HP:0001194
23	craniosynostosis⁶⁴	HP:0001363
24	abnormality of abdomen morphology⁶⁴	HP:0001438
25	small for gestational age⁶⁴	HP:0001518
26	oligohydramnios⁶⁴	HP:0001562
27	vesicovaginal fistula⁶⁴	HP:0001586
28	laryngomalacia⁶⁴	HP:0001601
29	rocker bottom foot⁶⁴	HP:0001838
30	abnormality of metabolism/homeostasis⁶⁴	HP:0001939
31	frontal bossing⁶⁴	HP:0002007
32	arnold-chiari malformation⁶⁴	HP:0002308
33	scoliosis⁶⁴	HP:0002650
34	cloverleaf skull⁶⁴	HP:0002676
35	bronchomalacia⁶⁴	HP:0002780
36	hemivertebrae⁶⁴	HP:0002937
37	radioulnar synostosis⁶⁴	HP:0002974
38	femoral bowing⁶⁴	HP:0002980
39	ulnar bowing⁶⁴	HP:0003031
40	humeroradial synostosis⁶⁴	HP:0003041
41	depressed nasal bridge⁶⁴	HP:0005280
42	maternal virilization in pregnancy⁶⁴	HP:0008072
43	low maternal serum estriol⁶⁴	HP:0008073
44	tarsal synostosis⁶⁴	HP:0008368
45	clitoral hypertrophy⁶⁴	HP:0008665
46	joint contracture of the hand⁶⁴	HP:0009473
47	carpal synostosis⁶⁴	HP:0009702
48	midface retrusion⁶⁴	HP:0011800
49	camptodactyly⁶⁴	HP:0012385

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

Sources:
⁴ClinicalTrials
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Interventional clinical trials:

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

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

Sources:
²⁷GTR
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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 Steroidogenesis²⁷

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

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

³⁶

Placenta, Ovary, Kidney

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

Genes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered...

Sources:
⁵Clinvar, ²¹GeneCards, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
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Genes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	POR	Cytochrome P450 Oxidoreductase	1231.52	Molecular basis known ⁵² Pathogenic ⁵ Causative variation ⁷⁰ GeneCards inferred via : Disorders, Variants (show sections)	20301592, 14758361, 12116245 more 15793702, 15220035, 15483095, 16470797, 14513299, 18559916, 9360545
2	MIR4651	MicroRNA 4651	9.55	GeneCards inferred via : Disorders (show sections)

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

Sources:
⁵Clinvar, ⁷⁰UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

⁷⁰

id	Symbol	AA change	Variation 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:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	POR	NM_ 000941.2(POR): c.1475T> A (p.Val492Glu)	SNV	Pathogenic	rs28931606	GRCh37	Chr 7, 75614973: 75614973
2	POR	NM_ 000941.2(POR): c.859G> C (p.Ala287Pro)	SNV	Pathogenic	rs121912974	GRCh37	Chr 7, 75612866: 75612866
3	POR	NM_ 000941.2(POR): c.731+1G> A	SNV	Pathogenic	rs786205099	GRCh37	Chr 7, 75610925: 75610925
4	POR	NM_ 000941.2(POR): c.1370G> A (p.Arg457His)	SNV	Pathogenic	rs28931608	GRCh37	Chr 7, 75614497: 75614497
5	POR	NM_ 000941.2(POR): c.1329dupC (p.Ile444Hisfs)	duplication	Pathogenic	rs786205875	GRCh37	Chr 7, 75614456: 75614456
6	POR	NM_ 000941.2(POR): c.1733A> G (p.Tyr578Cys)	SNV	Pathogenic	rs121912975	GRCh37	Chr 7, 75615304: 75615304
7	POR	NM_ 000941.2(POR): c.1835_ 1858del24 (p.Leu612_ Trp620delinsArg)	deletion	Pathogenic	rs786205876	GRCh37	Chr 7, 75615496: 75615519
8	POR	NM_ 000941.2(POR): c.568_ 580dupTACGTGGACAAGC (p.Arg194Leufs)	duplication	Pathogenic	rs786205878	GRCh37	Chr 7, 75610417: 75610429
9	POR	NM_ 000941.2(POR): c.1615G> A (p.Gly539Arg)	SNV	Pathogenic	rs121912976	GRCh37	Chr 7, 75615113: 75615113

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

Sources:
¹⁸Gene Expression Omnibus DataSets
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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...

Sources:
⁴²NCBI BioSystems Database, ⁵⁵PathCards, ⁶⁰Reactome, ⁶⁵Thomson Reuters
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Pathways related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis according to GeneCards Suite gene sharing:

id	Super pathways	Score	Top Affiliating Genes
1	Cytochrome P450 - arranged by substrate type⁶⁰ Show member pathways Biological oxidations⁶⁰ Phase 1 - Functionalization of compounds⁶⁰ Phase II conjugation⁶⁰ Cytosolic sulfonation of small molecules⁶⁰ Benzo(a)pyrene metabolism⁴² Metapathway biotransformation⁴² Ethanol oxidation⁶⁰ Methylation⁶⁰ Miscellaneous substrates⁶⁰ Xenobiotics⁶⁰ CYP2E1 reactions⁶⁰ Fatty acids⁶⁰ Fatty Acid Omega Oxidation⁴² Aryl hydrocarbon receptor signalling⁶⁰ Endogenous sterols⁶⁰ Amine Oxidase reactions⁶⁰ Transport and synthesis of PAPS⁶⁰ Oxidation by Cytochrome P450⁴² vitamin D3 biosynthesis⁴² Sterols are 12-hydroxylated by CYP8B1⁶⁰ Eicosanoids⁶⁰ Estradiol metabolism⁶⁵ Diclofenac Metabolic Pathway⁴² bupropion degradation⁴² Vitamin D2 (ergocalciferol) metabolism⁶⁵ Vitamins⁶⁰	9.1	MIR4651, POR

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

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

¹BitterDB

²CDC

³Cell Signaling Technology

⁴ClinicalTrials

⁵Clinvar

⁶CNVD

⁷Cochrane Library

⁸Cosmic

⁹dbSNP

¹⁰DGIdb

¹¹Disease Ontology

¹²diseasecard

¹³DISEASES

¹⁴DrugBank

¹⁵ExPASy

¹⁶FDA

¹⁷FMA

¹⁸Gene Expression Omnibus DataSets

¹⁹Gene Ontology

²⁰GeneAnalytics

²¹GeneCards

²²GeneHancer via GeneCards

²³GeneReviews

²⁴GeneTests

²⁵Genetics Home Reference

²⁶GenomeRNAi

²⁷GTR

²⁸HGMD

²⁹HMDB

³⁰ICD10

³¹ICD10 via Orphanet

³²ICD9CM

³³IUPHAR

³⁴KEGG

³⁵LifeMap Discovery®

³⁶MalaCards

³⁷MedGen

³⁸MedlinePlus

³⁹MeSH

⁴⁰MESH via Orphanet

⁴¹MGI

⁴²NCBI BioSystems Database

⁴³NCBI Bookshelf

⁴⁴NCI

⁴⁵NCIt

⁴⁶NDF-RT

⁴⁷NIH Clinical Center

⁴⁸NIH Rare Diseases

⁴⁹NINDS

⁵⁰Novoseek

⁵¹Novus Biologicals

⁵²OMIM

⁵³OMIM via Orphanet

⁵⁴Orphanet

⁵⁵PathCards

⁵⁶PharmGKB

⁵⁷PubMed

⁵⁸QIAGEN

⁵⁹R&D Systems

⁶⁰Reactome

⁶¹SinoBiological

⁶²SNOMED-CT

⁶³SNOMED-CT via Orphanet

⁶⁴The Human Phenotype Ontology

⁶⁵Thomson Reuters

⁶⁶Tocris Bioscience

⁶⁷Tumor Gene Family of Databases

⁶⁸UMLS

⁶⁹UMLS via Orphanet

⁷⁰UniProtKB/Swiss-Prot

⁷¹Wikipedia

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