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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Steroid Metabolism, Inborn Errors (D043202)
Parent Node: Synostosis (D013580)
..Starting node ..Antley-Bixler Syndrome Phenotype (D054882)
Child Nodes:
........ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
........ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Sister Nodes:
..Antley-Bixler Syndrome Phenotype (D054882) 2
..Banki Syndrome (C566228)
..Coronal synostosis, syndactyly and jejunal atresia (C536445)
..Craniosynostoses (D003398) 64
..Der Kaloustian Mcintosh Silver syndrome (C538217)
..Humeroradial Multiple Synostosis Syndrome (C565509)
..Humeroradial Synostosis with Craniofacial Anomalies (C566888)
..Jorgenson Lenz syndrome (C536292)
..Mesomelia-synostoses syndrome (C537348)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Multiple synostoses syndrome 2 (C537380)
..Multiple Synostoses Syndrome 3 (C567839)
..NOG-Related-Symphalangism Spectrum Disorder (C536943)
..Patella aplasia, coxa vara, tarsal synostosis (C536307)
..Prata Libéral Gonçalves syndrome (C538277)
..Radioulnar Synostosis (C562408)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..Ramer Ladda syndrome (C535284)
..Spondylocarpotarsal synostosis (C535780)
..Symphalangism of Toes (C566101)
..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
..Syndactyly (D013576) 69
..Synostoses, tarsal, carpal, and digital (C538156)
..Synostosis of Talus and Calcaneus with Short Stature (C566089)
..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..Tsukahara Syndrome (C566376)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

766

Name:

Antley-Bixler Syndrome Phenotype

Definition:

An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).

Alternative IDs:

OMIM:613571

ParentIDs:

MESH:D013580|MESH:D043202

TreeNumbers:

C05.116.099.370.894.115 |C05.660.906.181 |C16.131.621.906.181 |C16.320.565.925.324 |C18.452.648.925.324

Synonyms:

Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency |Antley Bixler Syndrome |Antley-Bixler Syndrome |Antley Bixler Syndrome, Autosomal Dominant |Antley-Bixler Syndrome, Autosomal Dominant |Antley Bixler Syndrome Like Phenotype Wi

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease

Reference:

MedGen: D054882
MeSH: D054882
OMIM: 613571;

Genes: POR;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000062	Ambiguous genitalia
3	HP:0008258	Congenital adrenal hyperplasia
4	HP:0003154	Increased circulating ACTH level

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000941.2(POR):c.541T>G (p.Tyr181Asp)	5447	POR	Pathogenic	72552771	RCV000018405;	N	MedGen:C2673964,OMIM:613571	7	75610390	75610390	NM_000941.2:c.541T>G	NP_000932.3:p.Tyr181Asp	NC_000007.13:g.75610390T>G	OMIM Allelic Variant:124015.0007	C2673964 613571 Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
NM_000941.2(POR):c.859G>C (p.Ala287Pro)	5447	POR	Pathogenic	121912974	RCV000018401; RCV000170457;	N	MedGen:C1860042,OMIM:201750; MedGen:C2673964,OMIM:613571	7	75612866	75612866	NM_000941.2:c.859G>C	NP_000932.3:p.Ala287Pro	NC_000007.13:g.75612866G>C	OMIM Allelic Variant:124015.0002,OMIM Allelic Variant:124015.0009	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; C2673964 613571 Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
NM_000941.2(POR):c.1370G>A (p.Arg457His)	5447	POR	Pathogenic	28931608	RCV000018406; RCV000018407;	N	MedGen:C1860042,OMIM:201750; MedGen:C2673964,OMIM:613571	7	75614497	75614497	NM_000941.2:c.1370G>A	NP_000932.3:p.Arg457His	NC_000007.13:g.75614497G>A	OMIM Allelic Variant:124015.0005	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; C2673964 613571 Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
NM_000941.2(POR):c.1615G>A (p.Gly539Arg)	5447	POR	Pathogenic	121912976	RCV000018415; RCV000018416;	N	MedGen:C1860042,OMIM:201750; MedGen:C2673964,OMIM:613571	7	75615113	75615113	NM_000941.2:c.1615G>A	NP_000932.3:p.Gly539Arg	NC_000007.13:g.75615113G>A	OMIM Allelic Variant:124015.0016	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; C2673964 613571 Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
NM_000941.2(POR):c.1706G>A (p.Cys569Tyr)	5447	POR	Pathogenic	28931607	RCV000018402;	N	MedGen:C2673964,OMIM:613571	7	75615277	75615277	NM_000941.2:c.1706G>A	NP_000932.3:p.Cys569Tyr	NC_000007.13:g.75615277G>A	OMIM Allelic Variant:124015.0003,OMIM Allelic Variant:124015.0008	C2673964 613571 Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
NM_000941.2(POR):c.1822G>T (p.Val608Phe)	5447	POR	Pathogenic	72552772	RCV000018403;	N	MedGen:C2673964,OMIM:613571	7	75615483	75615483	NM_000941.2:c.1822G>T	NP_000932.3:p.Val608Phe	NC_000007.13:g.75615483G>T	OMIM Allelic Variant:124015.0004	C2673964 613571 Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency