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Antley-Bixler Syndrome Phenotype

Go to external page http://purl.bioontology.org/ontology/MESH/D054882

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).

Autosomally recessive Antley-Bixler Syndrome with ambiguous genitalia and disturbed steroidogenesis, and associated with mutations in the POR gene, encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE).

Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2.

Instance info

Synonyms

Trapezoidocephaly-Synostosis Syndromes, Antley Bixler Syndrome, Autosomal Dominant, Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency, Osteodysgenesis, Multisynostotic, Phenotype, Antley-Bixler Syndrome, Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency, Trapezoidocephaly-Synostosis Syndrome, Antley-Bixler Syndrome with Disordered Steroidogenesis, Multisynostotic Osteodysgenesis With Long Bone Fractures, Syndrome, Antley-Bixler, Trapezoidocephaly Synostosis Syndrome, Antley-Bixler Syndrome, Antley-Bixler-Syndrom, Phänotyp (DE), Antley Bixler Syndrome, POR-Mangel (DE), Multisynostotic Osteodysgenesis, Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis, Antley Bixler Syndrome Phenotype, Antley-Bixler-Syndrom, autosomal dominant (DE), Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency, Antley-Bixler Syndrome, Autosomal Dominant, Cytochrome P450 Oxidoreductase Deficiency, Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase, Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis, Syndrome, Trapezoidocephaly-Synostosis, Syndromes, Trapezoidocephaly-Synostosis, Antley Bixler Syndrome with Disordered Steroidogenesis, Osteodysgenesis, Multisynostotic, With Fractures, Syndrome Phenotype, Antley-Bixler, POR Deficiency

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20090101

FX

D009251,D051497

HN

2009

MDA

20080708

MMR

20130708

MN

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

PM

2009

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D009251,http://purl.bioontology.org/ontology/MESH/D051497

SIB

http://purl.bioontology.org/ontology/MESH/D013576,http://purl.bioontology.org/ontology/MESH/D000312,http://purl.bioontology.org/ontology/MESH/D000070604,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D003398,http://purl.bioontology.org/ontology/MESH/D043204,http://purl.bioontology.org/ontology/MESH/D019082

TERMUI

T812161,T809849,T812162,T812163,T812164,T702501,T702503,T702502,T702505,T812666,T702504,T812667,T809848,T841236,T841237

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (2009),NLM (2013)

cui

C2936791,C1860042,C2350233

hasSTY

http://purl.bioontology.org/ontology/STY/T047

tui

T047

Instance relations

Types