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

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

Sources:
⁴⁶OMIM, ³²MalaCards
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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, is also known as antley-bixler-like syndrome - ambiguous genitalia - 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).

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

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⁴⁶OMIM, ⁴⁸Orphanet
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Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis, Aliases & Descriptions:

Name: Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis ⁴⁶

Antley-Bixler-Like Syndrome - Ambiguous Genitalia - Disordered Steroidogenesis ⁴⁸

Antley-Bixler Syndrome with Genital Anomaly and Disorder of Steroidogenesis ⁴⁸

Antley-Bixler Syndrome, Por-Related ⁴⁸

Antley-Bixler Syndrome Type 2 ⁴⁸

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Reproductive diseases

External Ids:

OMIM⁴⁶ 201750

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

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

Sources:
⁴⁶OMIM, ⁵⁸The 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 50)

id	Description	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...

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
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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...

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

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:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁷Clinvar, ⁶³UniProtKB/Swiss-Prot
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Genes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

- Elite gene

id	Symbol	Products	Description	Score	Implication
1	POR		P450 (cytochrome) oxidoreductase	32.51	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative variation ⁶³ GeneCards inferred via : Disorders (show sections)

Products for genes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	1	-	1	1
2	Novus Biologicals	1	1	1	-

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

Sources:
⁶³UniProtKB/Swiss-Prot, ⁷Clinvar
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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
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:

⁷

id	Gene	Name	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	POR, IVS6DS, G-A, +1	single nucleotide variant	Pathogenic
4	POR	NM_000941.2(POR): c.1370G> A (p.Arg457His)	single nucleotide variant	Pathogenic	rs28931608	GRCh37	Chr 7, 75614497: 75614497
5	POR	POR, 1-BP INS, 1329C	insertion	Pathogenic
6	POR	NM_000941.2(POR): c.1733A> G (p.Tyr578Cys)	single nucleotide variant	Pathogenic	rs121912975	GRCh37	Chr 7, 75615304: 75615304
7	POR	POR, 24-BP DEL, NT1835	deletion	Pathogenic
8	POR	POR, 15A-G	single nucleotide variant	Pathogenic
9	POR	POR, 13-BP INS, NT580	insertion	Pathogenic
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:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

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...

Compounds 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...

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

Antibodies
Proteins
Lysates

Antibodies
Proteins
Kits and Assays

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

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⁶³UniProtKB/Swiss-Prot

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Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis malady