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

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

Sources:
⁴⁹OMIM, ¹¹diseasecard, ⁶⁵UMLS, ⁶⁷UniProtKB/Swiss-Prot, ²⁴GTR, ³⁴MedGen, ³⁶MeSH, ⁶¹The Human Phenotype Ontology
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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 ⁴⁹ ¹¹ ⁶⁵

Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis ⁶⁷ ²⁴

Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis ⁶⁷

Antley-Bixler Syndrome with Disordered Steroidogenesis ⁶⁵

Cytochrome P450 Oxidoreductase Deficiency ⁶⁷

Por Deficiency ⁶⁷

Abs1 ⁶⁷

Characteristics:

HPO:

⁶¹

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:

OMIM⁴⁹ 201750

MedGen³⁴ C1860042, C3150099

MeSH³⁶ D054882

UMLS⁶⁵ C3150099

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

Sources:
⁴⁹OMIM, ⁶⁷UniProtKB/Swiss-Prot, ³³MalaCards
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OMIM:⁴⁹ 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 disordered steroidogenesis due to cytochrome p450 oxidoreductase, and has symptoms including camptodactyly, midface retrusion and carpal synostosis. An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (Cytochrome P450 Oxidoreductase). Affiliated tissues include placenta, ovary and kidney.

UniProtKB/Swiss-Prot:⁶⁷ 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:
²⁰GeneCards, ¹⁹GeneAnalytics
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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
1	cytochrome p450 oxidoreductase deficiency	12.7
2	disordered steroidogenesis due to cytochrome p450 oxidoreductase	12.1
3	bartter syndrome, type 1	11.6
4	aromatase deficiency	10.1
5	antley-bixler syndrome	10.1

Graphical network of diseases related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

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

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology
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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 49)

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

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

Sources:
⁴⁴NIH Clinical Center, 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...

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

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³³MalaCards
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MalaCards organs/tissues related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

³³

Placenta, Ovary, Kidney

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

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

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

Sources:
²⁰GeneCards, ⁴⁹OMIM, ⁵Clinvar, ⁶⁷UniProtKB/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	1231.21	Molecular basis known ⁴⁹ Pathogenic ⁵ Causative variation ⁶⁷ GeneCards inferred via : Disorders, Variants (show sections)

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

Sources:
⁶⁷UniProtKB/Swiss-Prot, ⁵Clinvar
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UniProtKB/Swiss-Prot genetic disease variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

⁶⁷

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)	single nucleotide variant	Pathogenic	rs28931606	GRCh37	Chr 7, 75614973: 75614973
2	POR	NM_000941.2(POR): c.859G> C (p.Ala287Pro)	single nucleotide variant	Pathogenic	rs121912974	GRCh37	Chr 7, 75612866: 75612866
3	POR	NM_000941.2(POR): c.731+1G> A	single nucleotide variant	Pathogenic	rs786205099	GRCh37	Chr 7, 75610925: 75610925
4	POR	NM_000941.2(POR): c.1370G> A (p.Arg457His)	single nucleotide variant	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)	single nucleotide variant	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.15A> G (p.Gly5=)	single nucleotide variant	Pathogenic	rs10262966	GRCh37	Chr 7, 75583325: 75583325
9	POR	NM_000941.2(POR): c.568_580dupTACGTGGACAAGC (p.Arg194Leufs)	duplication	Pathogenic	rs786205878	GRCh37	Chr 7, 75610417: 75610429
10	POR	NM_000941.2(POR): c.1615G> A (p.Gly539Arg)	single nucleotide variant	Pathogenic	rs121912976	GRCh37	Chr 7, 75615113: 75615113

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

Sources:
¹⁷Gene 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...

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

⁶Cochrane Library

⁷Cosmic

⁸dbSNP

⁹DGIdb

¹⁰Disease Ontology

¹¹diseasecard

¹²DISEASES

¹³DrugBank

¹⁴ExPASy

¹⁵FDA

¹⁶FMA

¹⁷Gene Expression Omnibus DataSets

¹⁸Gene Ontology

¹⁹GeneAnalytics

²⁰GeneCards

²¹GeneReviews

²²GeneTests

²³Genetics Home Reference

²⁴GTR

²⁵HGMD

²⁶HMDB

²⁷ICD10

²⁸ICD10 via Orphanet

²⁹ICD9CM

³⁰IUPHAR

³¹KEGG

³²LifeMap Discovery®

³³MalaCards

³⁴MedGen

³⁵MedlinePlus

³⁶MeSH

³⁷MESH via Orphanet

³⁸MGI

³⁹NCBI BioSystems Database

⁴⁰NCBI Bookshelf

⁴¹NCI

⁴²NCIt

⁴³NDF-RT

⁴⁴NIH Clinical Center

⁴⁵NIH Rare Diseases

⁴⁶NINDS

⁴⁷Novoseek

⁴⁸Novus Biologicals

⁴⁹OMIM

⁵⁰OMIM via Orphanet

⁵¹Orphanet

⁵²PathCards

⁵³PharmGKB

⁵⁴PubMed

⁵⁵QIAGEN

⁵⁶R&D Systems

⁵⁷Reactome

⁵⁸SinoBiological

⁵⁹SNOMED-CT

⁶⁰SNOMED-CT via Orphanet

⁶¹The Human Phenotype Ontology

⁶²Thomson Reuters

⁶³Tocris Bioscience

⁶⁴Tumor Gene Family of Databases

⁶⁵UMLS

⁶⁶UMLS via Orphanet

⁶⁷UniProtKB/Swiss-Prot

⁶⁸Wikipedia

Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis malady