Page last updated: 2024-09-28

Dysplasia Linguofacialis

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

Synonyms(14)

Synonym
Orofaciodigital Syndrome
Orodigitofacial Syndrome
Orodigitofacial Dysostosis
Oro-Facio-Digital Syndrome
Dysplasia Linguofacialis
Gorlin-Psaume Syndrome
Mohr Syndrome
Papillon-Leage and Psaume Syndrome
Oral-Facial-Digital Syndrome, Type II
Oral-Facial-Digital Syndrome, Type I
Oral-Facial-Digital Syndrome
Orofaciodigital Syndromes
Orofaciodigital Syndrome II
Orofaciodigital Syndrome I

Research

Studies (52)

TimeframeStudies, This Condition (%)All Conditions %
pre-199038 (73.08)23.3326
1990's4 (7.69)12.5806
2000's5 (9.62)18.1394
2010's4 (7.69)28.8240
2020's1 (1.92)9.53
DrugIndicatedRelationship StrengthStudiesTrials
salicylic acid0low30
histamine0low10
phenytoin0low10
acetaminophen0low10
valproic acid0low10
flumazenil0low10
2-propanol0low10
apnea0low20
sevoflurane0low10
thalidomide0low20
acetylcysteine0low10
remifentanil0low10
methotrexate0low10
aminopterin0low10
inositol 3-phosphate0low90
tretinoin0low20
phenylephrine hydrochloride0low40
sodium ethylxanthate0low10
piperidines0low10
ascorbic acid0low10
guanine0low10
eye0low10

Protein Targets (482)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
hypoxia-inducible factor 1 alpha subunit4004
RAR-related orphan receptor gamma8008
GLI family zinc finger 37007
AR protein110011
aldehyde dehydrogenase 1 family, member A18008
retinoic acid nuclear receptor alpha variant 18008
retinoid X nuclear receptor alpha9009
estrogen nuclear receptor alpha120012
peroxisome proliferator-activated receptor delta5005
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a5005
activating transcription factor 63003
v-jun sarcoma virus 17 oncogene homolog (avian)2002
Histone H2A.x4004
thyroid hormone receptor beta isoform a6006
heat shock protein beta-15005
nuclear factor erythroid 2-related factor 2 isoform 19009
lamin isoform A-delta107007
Voltage-dependent calcium channel gamma-2 subunit4004
Glutamate receptor 24004
ATAD5 protein, partial3003
GLS protein4004
Microtubule-associated protein tau6006
Smad31001
thyroid stimulating hormone receptor3003
nuclear receptor subfamily 1, group I, member 38008
progesterone receptor4004
EWS/FLI fusion protein5005
estrogen-related nuclear receptor alpha100010
peroxisome proliferator activated receptor gamma7007
aryl hydrocarbon receptor2002
chromobox protein homolog 16006
thyroid hormone receptor beta isoform 28008
peripheral myelin protein 225005
cytochrome P450 3A4 isoform 12002
Gamma-aminobutyric acid receptor subunit pi2305
ATP-binding cassette sub-family C member 30404
Multidrug resistance-associated protein 40405
Solute carrier family 22 member 60303
Carbonic anhydrase 120203
UDP-glucuronosyltransferase 1A90002
Bile salt export pump0505
Bile salt export pump0808
Cytochrome P450 2B10001
Cytochrome P450 1A10001
Carbonic anhydrase 10304
Carbonic anhydrase 20316
Myoglobin0101
Cytochrome P450 1A10012
Cytochrome P450 1A20012
Prostaglandin G/H synthase 10202
Carbonic anhydrase 30203
Cytochrome P450 3A40112
Cytochrome P450 2D60112
Cytochrome P450 2C9 0213
Polyunsaturated fatty acid lipoxygenase ALOX150101
Gamma-aminobutyric acid receptor subunit beta-12305
Sulfotransferase 1A1 0001
Gamma-aminobutyric acid receptor subunit delta2305
Gamma-aminobutyric acid receptor subunit gamma-22305
UDP-glucuronosyltransferase 1-60002
Gamma-aminobutyric acid receptor subunit alpha-52305
Gamma-aminobutyric acid receptor subunit alpha-32305
Arachidonate 5-lipoxygenase-activating protein0101
UDP-glucuronosyltransferase 1A1 0001
Carbonic anhydrase 40203
Prostaglandin G/H synthase 10202
Carbonic anhydrase 60203
Gamma-aminobutyric acid receptor subunit gamma-12305
Gamma-aminobutyric acid receptor subunit alpha-22305
Gamma-aminobutyric acid receptor subunit alpha-42305
Gamma-aminobutyric acid receptor subunit gamma-32305
Gamma-aminobutyric acid receptor subunit alpha-62305
Carbonic anhydrase 5A, mitochondrial0203
Prostaglandin G/H synthase 20102
Carbonic anhydrase 70203
Nuclear receptor ROR-gamma2114
Cytochrome P450 2J20101
Gamma-aminobutyric acid receptor subunit alpha-12305
Gamma-aminobutyric acid receptor subunit beta-32305
Gamma-aminobutyric acid receptor subunit beta-22305
Carbonic anhydrase 90203
GABA theta subunit2305
Canalicular multispecific organic anion transporter 10404
Carbonic anhydrase 150203
Carbonic anhydrase 130203
Gamma-aminobutyric acid receptor subunit epsilon2305
Carbonic anhydrase 140203
Carbonic anhydrase 5B, mitochondrial0203
toxin B0001
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, 2-oxoglutarate Oxygenase5005
Chain A, ATP-DEPENDENT DNA HELICASE Q12002
acetylcholinesterase2002
dopamine D1 receptor2002
15-lipoxygenase, partial2002
pregnane X receptor3003
phosphopantetheinyl transferase5005
USP1 protein, partial4004
NFKB1 protein, partial1001
Thrombopoietin1001
regulator of G-protein signaling 45005
glucocorticoid receptor [Homo sapiens]6006
farnesoid X nuclear receptor7007
vitamin D (1,25- dihydroxyvitamin D3) receptor7007
arylsulfatase A5005
euchromatic histone-lysine N-methyltransferase 2100010
Bloom syndrome protein isoform 18008
D(1A) dopamine receptor2002
flap endonuclease 14004
geminin9009
survival motor neuron protein isoform d5005
muscarinic acetylcholine receptor M13003
Histone deacetylase 30303
Histone deacetylase 40303
Guanine nucleotide-binding protein G1001
Histone deacetylase 10303
Histone deacetylase 70303
Histone deacetylase 20303
Polyamine deacetylase HDAC100303
Histone deacetylase 11 0303
Ataxin-24004
Histone deacetylase 80303
Histone deacetylase 60303
Histone deacetylase 90303
Histone deacetylase 50303
ATP-dependent phosphofructokinase3003
SMAD family member 21001
SMAD family member 31001
TDP1 protein8008
pregnane X nuclear receptor4004
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
Dihydrofolate reductase0405
Dihydrofolate reductase0406
Dihydrofolate reductase0305
Cellular tumor antigen p535005
5-hydroxytryptamine receptor 2C0103
Dihydrofolate reductase0325
Folylpolyglutamate synthase, mitochondrial0205
Solute carrier organic anion transporter family member 1A30102
Folylpolyglutamate synthase, mitochondrial0105
thioredoxin reductase8008
neuropeptide S receptor isoform A1001
Chain A, Hyaluronidase, phage associated0101
thioredoxin glutathione reductase2002
cytochrome P450 family 3 subfamily A polypeptide 43003
IDH13003
nuclear factor erythroid 2-related factor 2 isoform 24004
lethal(3)malignant brain tumor-like protein 1 isoform I1001
lethal factor (plasmid)1001
Polyphenol oxidase 20203
Pancreatic alpha-amylase0202
Albumin0101
Urease0101
Prolyl 4-hydroxylase subunit alpha-10001
Tyrosinase0101
Alpha-2B adrenergic receptor0011
Spike glycoprotein4004
Hyaluronate lyase0101
Prolyl hydroxylase EGLN20001
Egl nine homolog 10001
Prolyl hydroxylase EGLN30001
Hypoxia-inducible factor 1-alpha inhibitor0001
Solute carrier family 23 member 10101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE4004
endonuclease IV2002
G3003
cytochrome P450 2D6 isoform 11001
cytochrome P450 2C19 precursor1001
nuclear receptor ROR-gamma isoform 13003
muscleblind-like protein 1 isoform 12002
Gamma-aminobutyric acid receptor subunit pi0202
Gamma-aminobutyric acid receptor subunit delta0202
Interferon beta3003
HLA class I histocompatibility antigen, B alpha chain 3003
Gamma-aminobutyric acid receptor subunit alpha-10202
Gamma-aminobutyric acid receptor subunit beta-10202
Neuronal acetylcholine receptor subunit alpha-41102
Gamma-aminobutyric acid receptor subunit alpha-20202
Gamma-aminobutyric acid receptor subunit alpha-30202
Neuronal acetylcholine receptor subunit beta-21102
Gamma-aminobutyric acid receptor subunit alpha-10213
Gamma-aminobutyric acid receptor subunit beta-10202
Gamma-aminobutyric acid receptor subunit gamma-20213
5-hydroxytryptamine receptor 1A0303
Gamma-aminobutyric acid receptor subunit alpha-40202
Gamma-aminobutyric acid receptor subunit gamma-20202
Gamma-aminobutyric acid receptor subunit beta-30213
Gamma-aminobutyric acid receptor subunit alpha-50213
Gamma-aminobutyric acid receptor subunit alpha-30213
Gamma-aminobutyric acid receptor subunit alpha-20202
Gamma-aminobutyric acid receptor subunit beta-20202
Gamma-aminobutyric acid receptor subunit alpha-40202
Gamma-aminobutyric acid receptor subunit epsilon0202
Neuronal acetylcholine receptor subunit alpha-70101
TAR DNA-binding protein 432002
Gamma-aminobutyric acid receptor subunit alpha-60202
Gamma-aminobutyric acid receptor subunit gamma-10202
Inositol hexakisphosphate kinase 13003
Gamma-aminobutyric acid receptor subunit gamma-30202
Gamma-aminobutyric acid receptor subunit theta0202
cytochrome P450 2C9, partial3003
Purine nucleoside phosphorylase0202
Hypoxanthine-guanine phosphoribosyltransferase0001
Ricin0101
2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase0011
Purine nucleoside phosphorylase 0012
Shiga toxin subunit A0101
Guanine deaminase0001
Chain A, CARBONIC ANHYDRASE II0011
Chain A, Protein (female-specific Histamine Binding Protein 2)0011
Chain A, Beta-lactamase2002
aryl hydrocarbon receptor nuclear translocator0001
GALC protein2002
apical membrane antigen 1, AMA11001
bromodomain adjacent to zinc finger domain 2B2002
potassium voltage-gated channel subfamily H member 2 isoform d2002
transforming acidic coiled-coil-containing protein 30001
DNA polymerase iota isoform a (long)2002
Solute carrier family 22 member 20001
Solute carrier family 22 member 1 0001
Solute carrier family 22 member 30102
Plasma kallikrein0001
Macrophage migration inhibitory factor0202
Histamine H2 receptor0123
Adenosine receptor A10001
5-hydroxytryptamine receptor 1D0001
Adenosine receptor A2a0001
Histamine H1 receptor0123
Histamine H1 receptor0213
Metabotropic glutamate receptor 50112
Histamine H1 receptor0224
Glutamate receptor ionotropic, NMDA 1 0001
Carbonic anhydrase0001
Histamine H2 receptor1012
Carbonic anhydrase0002
Histamine H3 receptor0101
Glutamate receptor ionotropic, NMDA 2A 0001
Glutamate receptor ionotropic, NMDA 2B0001
Glutamate receptor ionotropic, NMDA 2C0001
Histamine N-methyltransferase 0101
Glutaminyl-peptide cyclotransferase0101
Carbonic anhydrase 0002
Carbonic anhydrase-like protein, putative0001
Carbonic anhydrase0002
Carbonic anhydrase0002
Glutamate receptor ionotropic, NMDA 2D0001
Solute carrier family 22 member 10102
Carbonic anhydrase 0002
Equilibrative nucleoside transporter 40001
Carbonic anhydrase 130001
Glutamate receptor ionotropic, NMDA 3B0001
Histamine H4 receptor0123
Histamine H4 receptor0123
Histamine H4 receptor 0101
Carbonic anhydrase 40001
Histamine H4 receptor0123
Histamine H3 receptor0101
Carboxylic ester hydrolase 0001
Solute carrier family 22 member 20102
Glutamate receptor ionotropic, NMDA 3A0001
Histamine H3 receptor0123
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, Ferritin light chain2002
acid sphingomyelinase1001
ClpP1001
estrogen receptor 2 (ER beta)3003
67.9K protein1001
Thymidylate synthase 0101
alpha-galactosidase1001
Thymidylate synthase 0101
cellular tumor antigen p53 isoform a1001
polyunsaturated fatty acid lipoxygenase ALOX121001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 12002
vitamin D3 receptor isoform VDRA2002
transcriptional regulator ERG isoform 32002
importin subunit beta-1 isoform 11001
DNA polymerase beta1001
nuclear receptor coactivator 1 isoform 1 [Homo sapiens]0101
snurportin-11001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
DNA polymerase eta isoform 11001
transactivating tegument protein VP16 [Human herpesvirus 1]0101
DNA polymerase kappa isoform 12002
M-phase phosphoprotein 82002
histone acetyltransferase KAT2A isoform 13003
caspase-1 isoform alpha precursor1001
nuclear receptor coactivator 3 isoform a0101
Toll-like receptor 40101
Fatty-acid amide hydrolase 10101
ATP-binding cassette sub-family C member 30102
Dihydrofolate reductase 0202
Dihydrofolate reductase0101
Dihydrofolate reductase0101
Thymidylate synthase0101
Tyrosine-protein kinase ABL10011
Thymidylate synthase0202
Integrin beta-31001
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Thymidylate synthase0202
Integrin alpha-IIb1001
High mobility group protein B10022
Dihydrofolate reductase0101
Thymidylate synthase0101
Glucose-6-phosphate 1-dehydrogenase0101
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Folate receptor beta0101
5-hydroxytryptamine receptor 2A0101
Cytochrome P450 11B1, mitochondrial 0101
Folate receptor alpha0101
Dihydrofolate reductase0202
Histidine decarboxylase0101
Trifunctional purine biosynthetic protein adenosine-30101
Cyclin-dependent kinase 20011
Bifunctional purine biosynthesis protein ATIC0202
Multidrug resistance-associated protein 1 0001
Delta-type opioid receptor0101
Mu-type opioid receptor0202
Kappa-type opioid receptor0101
Reduced folate transporter0202
6-phosphogluconate dehydrogenase, decarboxylating0101
Caspase-71001
Dihydrofolate reductase0101
Pteridine reductase 10101
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Solute carrier family 22 member 60102
Canalicular multispecific organic anion transporter 10102
Trifunctional purine biosynthetic protein adenosine-30101
Solute carrier family 22 member 200202
Dihydrofolate reductase 0101
Solute carrier family 22 member 80102
Solute carrier family 22 member 60202
Dihydrofolate reductase0101
ATP-binding cassette sub-family C member 110001
Proton-coupled folate transporter0101
Multidrug resistance associated protein0102
ATPase family AAA domain-containing protein 53003
Solute carrier organic anion transporter family member 1B30001
Solute carrier family 22 member 110001
Protein-arginine deiminase type-40101
Broad substrate specificity ATP-binding cassette transporter ABCG20001
glp-1 receptor, partial1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)2002
thyroid stimulating hormone receptor2002
beta-2 adrenergic receptor1001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
Vpr1001
5-hydroxytryptamine receptor 2A0011
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
Gamma-aminobutyric acid 0101
peripheral myelin protein 22 isoform 11001
cytochrome P450 2C9 precursor1001
atrial natriuretic peptide receptor 1 precursor1001
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Voltage-dependent L-type calcium channel subunit alpha-1F0101
Sodium channel protein type 2 subunit alpha0101
Aldo-keto reductase family 1 member B10101
Gamma-aminobutyric acid receptor subunit alpha-60101
Gamma-aminobutyric acid receptor subunit gamma-20101
Gamma-aminobutyric acid receptor subunit delta0101
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit alpha-30101
Gamma-aminobutyric acid receptor subunit gamma-30101
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 4 subunit alpha0102
Gamma-aminobutyric acid receptor subunit beta-10101
Gamma-aminobutyric acid receptor subunit alpha-10101
Gamma-aminobutyric acid receptor subunit beta-30101
Inositol monophosphatase 11001
Voltage-dependent L-type calcium channel subunit alpha-1D 0101
Potassium voltage-gated channel subfamily H member 20101
Voltage-dependent L-type calcium channel subunit alpha-1S0101
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Sodium channel protein type 5 subunit alpha0101
Sodium channel protein type 9 subunit alpha0101
Gamma-aminobutyric acid receptor subunit alpha-50101
Gamma-aminobutyric acid receptor subunit pi0101
Sodium channel protein type 2 subunit alpha0101
Gamma-aminobutyric acid receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit theta0101
Sodium channel protein type 3 subunit alpha0101
Gamma-aminobutyric acid receptor subunit gamma-10101
Sigma non-opioid intracellular receptor 10202
chaperonin-containing TCP-1 beta subunit homolog1001
Estrogen receptor beta0001
Inhibitor of nuclear factor kappa-B kinase subunit beta0001
5'-AMP-activated protein kinase subunit beta-20001
Albumin0101
Polymerase acidic protein0011
Stromelysin-10011
Tyrosine-protein phosphatase YopH0101
Aldo-keto reductase family 1 member B10101
Prolyl 4-hydroxylase subunit alpha-10101
Tyrosine-protein phosphatase non-receptor type 10103
Estrogen receptor0001
Acetylcholinesterase0101
Cystathionine gamma-lyase0101
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 70001
Nicotinate phosphoribosyltransferase0101
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
Luciferase3003
Caspase-72002
caspase-32002
Cereblon isoform 40202
cytochrome P450 2D61001
cAMP-specific 3',5'-cyclic phosphodiesterase 4A0101
Prostaglandin G/H synthase 20101
cAMP-specific 3',5'-cyclic phosphodiesterase 4B0101
cAMP-specific 3',5'-cyclic phosphodiesterase 4C0101
cAMP-specific 3',5'-cyclic phosphodiesterase 4D0101
DNA-binding protein Ikaros0001
DNA damage-binding protein 10112
Protein cereblon0214
Chain A, Nuclear Receptor ROR-beta0101
Chain A, Cruzipain1001
nonstructural protein 11001
Parkin1001
thyrotropin-releasing hormone receptor1001
Ornithine decarboxylase0001
Amyloid-beta precursor protein0101
Ornithine decarboxylase0001
60 kDa chaperonin0101
Adenosine receptor A30202
Retinoic acid receptor alpha0227
60 kDa heat shock protein, mitochondrial0101
Retinoic acid receptor beta0227
Retinoic acid receptor alpha0123
Retinoic acid receptor gamma 0227
Alpha-1B adrenergic receptor0202
Alpha-1A adrenergic receptor0101
Retinoic acid receptor gamma0123
Retinoic acid receptor RXR-alpha0224
Retinoic acid receptor beta0123
Cellular retinoic acid-binding protein 20011
Alpha-1D adrenergic receptor0101
Mitogen-activated protein kinase 10101
Retinoic acid receptor RXR-alpha0123
Retinoic acid receptor RXR-beta0224
Retinoic acid receptor RXR-beta0123
Retinoic acid receptor RXR-gamma0123
Indoleamine 2,3-dioxygenase 10101
Cytochrome P450 2C190011
Nuclear receptor ROR-alpha0101
Alpha-synuclein0101
Cellular retinoic acid-binding protein 10102
5-hydroxytryptamine receptor 2B0202
Alpha-1A adrenergic receptor0202
Retinoic acid receptor RXR-gamma0224
10 kDa heat shock protein, mitochondrial0101
Cellular retinoic acid-binding protein 10011
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 10213
Thiosulfate sulfurtransferase0101
60 kDa chaperonin 0101
10 kDa chaperonin 0101
Indoleamine 2,3-dioxygenase 20101
Nuclear receptor ROR-beta0101
Cocaine esterase0101
Aldo-keto reductase family 1 member B10101
Cytochrome P450 2A60101
Tissue factor0101
Aldo-keto reductase family 1 member A10101
UDP-glucuronosyltransferase 2B70102
Liver carboxylesterase 10101
Aldo-keto reductase family 1 member A10101
Aldo-keto reductase family 1 member A10101
Aldo-keto reductase family 1 member B70101
NAD-dependent protein deacylase sirtuin-5, mitochondrial0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]