Page last updated: 2024-09-27

BOF Syndrome

An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)

Synonyms(15)

Synonym
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging
Branchiooculofacial Syndrome
BOR Syndrome
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
Branchio-Oculo-Facial Syndrome
Branchio-Oto-Renal Syndrome
Branchiootorenal Syndrome 2
Lee Root Fenske Syndrome
Branchiootorenal Syndrome 1
Branchio-Otorenal Dysplasia
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
Branchiootorenal Dysplasia
Melnick-Fraser Syndrome
BOF Syndrome
Branchio-Otorenal Syndrome

Research Excerpts

Research

Studies (15)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's1 (6.67)12.5806
2000's8 (53.33)18.1394
2010's6 (40.00)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
salicylic acid0low10
furosemide0low10
2-propanol0low10
sevoflurane0low10
thymidine0low10
phenylalanine0low10
ethylnitrosourea0low10
4-phosphonomethylphenylalanine0low10
atropine0low10
inositol 3-phosphate0low20
succimer0low10
small cardioactive peptide a0low10
eye0low30

Protein Targets (185)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
hypoxia-inducible factor 1 alpha subunit1001
RAR-related orphan receptor gamma2002
GLI family zinc finger 33003
AR protein4004
aldehyde dehydrogenase 1 family, member A13003
retinoic acid nuclear receptor alpha variant 13003
retinoid X nuclear receptor alpha3003
estrogen nuclear receptor alpha5005
peroxisome proliferator-activated receptor delta1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
activating transcription factor 62002
v-jun sarcoma virus 17 oncogene homolog (avian)1001
Histone H2A.x1001
thyroid hormone receptor beta isoform a2002
heat shock protein beta-11001
nuclear factor erythroid 2-related factor 2 isoform 14004
lamin isoform A-delta101001
Voltage-dependent calcium channel gamma-2 subunit1001
Glutamate receptor 21001
Chain A, 2-oxoglutarate Oxygenase2002
nuclear receptor subfamily 1, group I, member 31001
glucocorticoid receptor [Homo sapiens]4004
pregnane X nuclear receptor1001
cystic fibrosis transmembrane conductance regulator0101
DNA polymerase beta1001
short transient receptor potential channel 6 isoform 10011
Solute carrier family 22 member 1 0101
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40202
5-hydroxytryptamine receptor 40202
Bile salt export pump0303
Muscarinic acetylcholine receptor M20216
Muscarinic acetylcholine receptor M40215
Muscarinic acetylcholine receptor M10215
Muscarinic acetylcholine receptor M30215
Muscarinic acetylcholine receptor M40215
Muscarinic acetylcholine receptor M50215
Muscarinic acetylcholine receptor M50215
Muscarinic acetylcholine receptor M20216
Muscarinic acetylcholine receptor M10216
Muscarinic acetylcholine receptor M10001
Muscarinic acetylcholine receptor M30215
Alpha-1D adrenergic receptor0202
5-hydroxytryptamine receptor 2C0202
Muscarinic acetylcholine receptor M40101
Histamine H2 receptor0001
5-hydroxytryptamine receptor 70101
Reverse transcriptase/RNaseH 0001
Muscarinic acetylcholine receptor0112
Canalicular multispecific organic anion transporter 10202
interleukin 81001
pregnane X receptor1001
progesterone receptor1001
lethal factor (plasmid)1001
estrogen receptor 2 (ER beta)1001
cytochrome P450 family 3 subfamily A polypeptide 41001
EWS/FLI fusion protein1001
farnesoid X nuclear receptor1001
aryl hydrocarbon receptor1001
thyrotropin-releasing hormone receptor1001
thyroid hormone receptor beta isoform 21001
geminin2002
Solute carrier family 22 member 60202
Carbonic anhydrase 120204
Bile salt export pump0202
Carbonic anhydrase 10406
Carbonic anhydrase 20406
Albumin0202
Carbonic anhydrase 30203
Glucose-6-phosphate 1-dehydrogenase0202
Cytochrome P450 2C9 0101
Carbonic anhydrase 40305
Carbonic anhydrase 60204
Serum paraoxonase/arylesterase 10101
Corticosteroid 11-beta-dehydrogenase isozyme 10101
Carbonic anhydrase 5A, mitochondrial0305
Carbonic anhydrase 70204
Adenosine receptor A10101
Corticosteroid 11-beta-dehydrogenase isozyme 10101
Cytochrome P450 2J20101
6-phosphogluconate dehydrogenase, decarboxylating0101
Spike glycoprotein2002
Holo-[acyl-carrier-protein] synthase0101
Solute carrier organic anion transporter family member 2A10101
Sodium/bile acid cotransporter0101
Carbonic anhydrase 90305
Multidrug and toxin extrusion protein 10101
Carbonic anhydrase 130204
G-protein coupled receptor 350112
CDGSH iron-sulfur domain-containing protein 10202
Carbonic anhydrase 140204
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Carbonic anhydrase 5B, mitochondrial0305
Chain A, AMINOPEPTIDASE0101
Chain A, AMINOPEPTIDASE0101
Luciferase1001
peripheral myelin protein 222002
Voltage-dependent calcium channel subunit alpha-2/delta-10101
Plasma kallikrein0001
Alkaline phosphatase, tissue-nonspecific isozyme0101
Alkaline phosphatase, tissue-nonspecific isozyme 0101
Intestinal-type alkaline phosphatase0101
Intestinal-type alkaline phosphatase0101
5'-nucleotidase0101
Adenosine receptor A10001
Adenosine receptor A2a0001
Glutamate receptor ionotropic, NMDA 1 0001
Carbonic anhydrase0102
Carbonic anhydrase0001
E3 ubiquitin-protein ligase XIAP0101
Glutamate receptor ionotropic, NMDA 2A 0001
Glutamate receptor ionotropic, NMDA 2B0001
Glutamate receptor ionotropic, NMDA 2C0001
Large neutral amino acids transporter small subunit 10102
SLC16A10 protein0001
Carbonic anhydrase 0001
Carbonic anhydrase-like protein, putative0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Glutamate receptor ionotropic, NMDA 2D0001
Large neutral amino acids transporter small subunit 1 0101
Carbonic anhydrase 0001
Carbonic anhydrase 130001
Glutamate receptor ionotropic, NMDA 3B0001
Monocarboxylate transporter 100001
Carbonic anhydrase 150102
Glutamate receptor ionotropic, NMDA 3A0001
Phospholipase A-2-activating protein0101
thioredoxin reductase1001
chaperonin-containing TCP-1 beta subunit homolog1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
survival motor neuron protein isoform d1001
histone acetyltransferase KAT2A isoform 11001
Estrogen receptor beta0001
Inhibitor of nuclear factor kappa-B kinase subunit beta0001
Polyphenol oxidase 20102
5'-AMP-activated protein kinase subunit beta-20001
Polymerase acidic protein0011
Stromelysin-10011
Tyrosine-protein phosphatase YopH0101
High mobility group protein B10011
Aldo-keto reductase family 1 member B10101
Prolyl 4-hydroxylase subunit alpha-10101
Tyrosine-protein phosphatase non-receptor type 10103
Estrogen receptor0001
Acetylcholinesterase0101
Prostaglandin G/H synthase 10101
Cystathionine gamma-lyase0101
Prostaglandin G/H synthase 20101
5'-AMP-activated protein kinase subunit gamma-10001
5'-AMP-activated protein kinase catalytic subunit alpha-20001
Xanthine dehydrogenase/oxidase0101
5'-AMP-activated protein kinase catalytic subunit alpha-10001
Carbonic anhydrase0101
Solute carrier family 22 member 60101
Solute carrier family 22 member 70001
Nicotinate phosphoribosyltransferase0101
Solute carrier family 22 member 200101
Solute carrier family 22 member 80101
Solute carrier family 22 member 60101
Ubiquitin-like domain-containing CTD phosphatase 10101
5'-AMP-activated protein kinase subunit gamma-30001
5'-AMP-activated protein kinase subunit gamma-20001
5'-AMP-activated protein kinase subunit beta-10001
Carbonic anhydrase 0101
Mu-type opioid receptor0101
Carbonic anhydrase 0101
Replicase polyprotein 1ab0101
Replicase polyprotein 1ab0101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Thymidine kinase 0102
Thymidine kinase, cytosolic0204
Thymidine kinase0102
Thymidylate synthase0001
Thymidine phosphorylase0001
Polyunsaturated fatty acid 5-lipoxygenase0101
Thymidine phosphorylase0001
Thymidylate kinase0101
Thymidine kinase, cytosolic 0002
Thymidine kinase0001
Thymidylate kinase0101
Thymidine kinase 0102
Sterol O-acyltransferase 10101
Thymidine kinase0001
Thymidine kinase0001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]