Page last updated: 2024-09-28

Cleidocranial Digital Dysostosis

Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.

Synonyms(6)

Synonym
Cleidocranial Dysplasia
Cleidocranial Dysostosis
Cleidocranial Digital Dysostosis
Marie-Sainton Syndrome
Dysostosis, Cleidocranial
Scheuthauer-Marie-Sainton Syndrome

Research Excerpts

Overview

ExcerptReference
"Cleidocranial dysplasia is a rare autosomal dominant disorder resulting in skeletal and dental abnormalities due to the disturbance in ossification of the bones."( Ma, Y; Yu, D; Zhao, F, 2019)

Research

Studies (59)

TimeframeStudies, This Condition (%)All Conditions %
pre-199027 (45.76)23.3326
1990's1 (1.69)12.5806
2000's8 (13.56)18.1394
2010's20 (33.90)28.8240
2020's3 (5.08)9.53
DrugIndicatedRelationship StrengthStudiesTrials
adenine0low20
cytosine0low30
inositol0low10
thymine0low50
chloroquine0low30
furosemide0low10
hydrochlorothiazide0low10
2-propanol0low10
entinostat0low10
procainamide0low10
propranolol0low10
hydroxyproline0low10
serine0low10
aspartic acid0low20
glutamine0low40
leucine0low20
asparagine0low10
histidine0low10
threonine0low10
tryptophan0low30
isoleucine0low10
arginine0low50
docusate0low10
durapatite0low10
titanium0low10
proline0low20
glucosamine0low10
inositol 3-phosphate0low10
bromochloroacetic acid0low10
mercaptopurine0low10
osteoprotegerin0low30
phenylephrine hydrochloride0low10
levetiracetam0low10
casein kinase ii0low10
strontium0low10
phosphorus0low20
acid phosphatase0low10
jaw0low40
chondroitin0low20
transforming growth factor beta0low20
guanine0low20

Protein Targets (459)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
hypoxia-inducible factor 1 alpha subunit1001
RAR-related orphan receptor gamma8008
GLI family zinc finger 38008
AR protein7007
aldehyde dehydrogenase 1 family, member A16006
retinoic acid nuclear receptor alpha variant 17007
retinoid X nuclear receptor alpha3003
estrogen nuclear receptor alpha7007
peroxisome proliferator-activated receptor delta1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a3003
activating transcription factor 62002
v-jun sarcoma virus 17 oncogene homolog (avian)2002
Histone H2A.x2002
thyroid hormone receptor beta isoform a2002
heat shock protein beta-12002
nuclear factor erythroid 2-related factor 2 isoform 15005
lamin isoform A-delta10100010
Voltage-dependent calcium channel gamma-2 subunit4004
Glutamate receptor 24004
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE4004
Chain A, MTA/SAH nucleosidase0101
Chain A, Ribosome-inactivating protein alpha-trichosanthin0011
Chain A, Ricin A chain0011
Chain A, Ribosome-inactivating protein 30011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
TDP1 protein7007
nuclear receptor subfamily 1, group I, member 34004
cytochrome P450 family 3 subfamily A polypeptide 42002
glucocorticoid receptor [Homo sapiens]5005
estrogen-related nuclear receptor alpha7007
pregnane X nuclear receptor2002
nuclear factor erythroid 2-related factor 2 isoform 21001
importin subunit beta-1 isoform 11001
snurportin-11001
tumor susceptibility gene 101 protein1001
GTP-binding nuclear protein Ran isoform 11001
Bile salt export pump0808
Cyclin-dependent kinase 10101
Heat shock protein HSP 90-beta0101
Xanthine dehydrogenase/oxidase0101
TAR DNA-binding protein 432002
Protein mono-ADP-ribosyltransferase PARP150101
Leucine-rich repeat serine/threonine-protein kinase 20202
ATPase family AAA domain-containing protein 52002
Ataxin-24004
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0022
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0022
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0022
thioredoxin reductase7007
phosphopantetheinyl transferase5005
NFKB1 protein, partial2002
GLS protein3003
thyroid stimulating hormone receptor3003
alpha-galactosidase1001
euchromatic histone-lysine N-methyltransferase 2120012
cytochrome P450 2C19 precursor3003
chromobox protein homolog 13003
flap endonuclease 17007
DNA polymerase iota isoform a (long)4004
muscarinic acetylcholine receptor M13003
lethal factor (plasmid)4004
Cytochrome P450 3A40304
Nitric oxide synthase, endothelial0002
Nitric oxide synthase, brain0001
Nitric oxide synthase, brain 0001
Nitric oxide synthase, inducible0001
Nitric oxide synthase, inducible0013
Cationic amino acid transporter 30101
ATP-dependent phosphofructokinase5005
Carbonic anhydrase 10209
Carbonic anhydrase 203010
Neutral amino acid transporter A0505
Neutral amino acid transporter B(0)0505
Carbonic anhydrase-like protein, putative0005
Amino acid transporter0505
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, Ferritin light chain2002
arylsulfatase A6006
Bloom syndrome protein isoform 15005
Metabotropic glutamate receptor 60011
Excitatory amino acid transporter 40101
Glutamate transporter homolog0011
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase0101
5-hydroxytryptamine receptor 1D0002
Glutamate receptor ionotropic, NMDA 1 0204
Excitatory amino acid transporter 10101
Excitatory amino acid transporter 20101
Excitatory amino acid transporter 30101
Glutamate receptor ionotropic, NMDA 2A 0103
Glutamate receptor ionotropic, NMDA 2B0103
Glutamate receptor ionotropic, NMDA 2C0103
Metabotropic glutamate receptor 10011
Metabotropic glutamate receptor 20011
Glutamate receptor ionotropic, NMDA 2D0103
Glutamate receptor ionotropic, NMDA 3B0103
Carbonic anhydrase 40002
Glutamate receptor ionotropic, NMDA 3A0103
thyroid stimulating hormone receptor4004
Cellular tumor antigen p534004
Nuclear receptor ROR-gamma1001
Chain A, Protein kinase CK2, alpha Subunit0101
Chain A, PROTEIN KINASE CK2, alpha SUBUNIT0101
Chain A, Protein Kinase Ck2, Alpha Subunit0101
endonuclease IV1001
dopamine D1 receptor1001
ATAD5 protein, partial5005
Thrombopoietin1001
Parkin1001
NPC intracellular cholesterol transporter 1 precursor1001
peripheral myelin protein 22 isoform 14004
mitogen-activated protein kinase 12002
ras-related protein Rab-9A1001
serine/threonine-protein kinase mTOR isoform 11001
geminin6006
cytochrome P450 3A4 isoform 12002
Serine/threonine-protein kinase Sgk10101
Gamma-aminobutyric acid receptor subunit pi2114
Gamma-aminobutyric acid receptor subunit beta-12114
Ribosyldihydronicotinamide dehydrogenase [quinone]0213
Gamma-aminobutyric acid receptor subunit delta2114
Gamma-aminobutyric acid receptor subunit gamma-22114
Casein kinase II subunit alpha 0101
Casein kinase II subunit alpha'0202
Gamma-aminobutyric acid receptor subunit alpha-52114
Gamma-aminobutyric acid receptor subunit alpha-32114
Cyclin-A20101
Gamma-aminobutyric acid receptor subunit gamma-12114
Gamma-aminobutyric acid receptor subunit alpha-22114
Cyclin-dependent kinase 20101
Gamma-aminobutyric acid receptor subunit alpha-42114
Gamma-aminobutyric acid receptor subunit gamma-32114
Gamma-aminobutyric acid receptor subunit alpha-62114
D(1A) dopamine receptor1001
Gamma-aminobutyric acid receptor subunit alpha-12114
Gamma-aminobutyric acid receptor subunit beta-32114
Gamma-aminobutyric acid receptor subunit beta-22114
Casein kinase II subunit beta0202
Casein kinase II subunit beta0101
Casein kinase II subunit alpha0202
Cyclin-A10101
Dual specificity mitogen-activated protein kinase kinase 10101
Dual specificity tyrosine-phosphorylation-regulated kinase 1A0101
Ribosomal protein S6 kinase alpha-10101
Casein kinase II subunit alpha 30202
GABA theta subunit2114
Gamma-aminobutyric acid receptor subunit epsilon2114
Single-stranded DNA cytosine deaminase1001
PPM1D protein2002
glucose-6-phosphate dehydrogenase-6-phosphogluconolactonase0101
Spike glycoprotein0112
Replicase polyprotein 1ab0112
glucose-6-phosphate 1-dehydrogenase isoform b0101
Transmembrane protease serine 20112
ATP-binding cassette sub-family C member 30606
Multidrug resistance-associated protein 40606
Dihydrofolate reductase 0101
DNA ligase0101
Interferon beta4004
Riboflavin-binding protein0011
Major prion protein0011
Amyloid-beta precursor protein0202
Histidine-rich protein PFHRP-II0102
Procathepsin L0112
Muscarinic acetylcholine receptor M20213
Muscarinic acetylcholine receptor M40101
Muscarinic acetylcholine receptor M50101
Alpha-2A adrenergic receptor0225
Replicase polyprotein 1a0112
Replicase polyprotein 1ab0112
Replicase polyprotein 1ab0112
Spike glycoprotein0101
Replicase polyprotein 1ab0112
Muscarinic acetylcholine receptor M10213
Alpha-2B adrenergic receptor0113
Alpha-2C adrenergic receptor0225
DNA ligase 10101
Muscarinic acetylcholine receptor M30213
Serine/threonine-protein kinase mTOR0101
Nuclear receptor subfamily 4 group A member 20011
Beta-secretase 10101
Spike glycoprotein3115
Calcium-dependent protein kinase 10011
MO15-related protein kinase Pfmrk 0101
DNA ligase A0101
Potassium voltage-gated channel subfamily H member 20505
Sigma intracellular receptor 20101
Phosphoethanolamine N-methyltransferase0101
Canalicular multispecific organic anion transporter 10606
Sigma non-opioid intracellular receptor 10303
Angiotensin-converting enzyme 2 0112
Cysteine proteinase falcipain 2a 0101
Cysteine proteinase falcipain 2a 0101
IDH13003
Deoxycytidine kinase0001
Histone deacetylase 80101
EWS/FLI fusion protein4004
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
tyrosine-protein kinase Yes1001
Histone deacetylase 30213
Bromodomain-containing protein 40101
Leukotriene A-4 hydrolase0101
Androgen receptor0101
Tissue factor0101
Cytochrome P450 2C190202
Histone deacetylase 40112
Histone deacetylase 10224
Histone deacetylase-like amidohydrolase0202
Histone deacetylase 70112
Histone deacetylase 20224
Polyamine deacetylase HDAC100112
Histone deacetylase 11 0112
NAD-dependent protein deacetylase sirtuin-10101
Histone deacetylase 80112
Histone deacetylase 60112
Histone deacetylase 90112
Histone deacetylase 50112
Histone deacetylase 0101
Nuclear receptor corepressor 20202
estrogen receptor 2 (ER beta)1001
farnesoid X nuclear receptor2002
aryl hydrocarbon receptor3003
thyrotropin-releasing hormone receptor1001
thyroid hormone receptor beta isoform 21001
Solute carrier family 22 member 60202
Carbonic anhydrase 120205
Bile salt export pump0202
Albumin0213
Carbonic anhydrase 30204
Glucose-6-phosphate 1-dehydrogenase0101
Cytochrome P450 2C9 0303
Carbonic anhydrase 40205
Carbonic anhydrase 60205
Serum paraoxonase/arylesterase 10101
Corticosteroid 11-beta-dehydrogenase isozyme 10101
Carbonic anhydrase 5A, mitochondrial0205
Carbonic anhydrase 70205
Adenosine receptor A10101
Corticosteroid 11-beta-dehydrogenase isozyme 10101
Cytochrome P450 2J20303
6-phosphogluconate dehydrogenase, decarboxylating0101
Holo-[acyl-carrier-protein] synthase0101
Solute carrier organic anion transporter family member 2A10101
Sodium/bile acid cotransporter0202
Carbonic anhydrase 90205
Multidrug and toxin extrusion protein 10101
Carbonic anhydrase 130205
G-protein coupled receptor 350112
CDGSH iron-sulfur domain-containing protein 10202
Carbonic anhydrase 140205
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Carbonic anhydrase 5B, mitochondrial0205
Chain A, Glutamine Binding Protein0011
15-lipoxygenase, partial1001
histone-lysine N-methyltransferase 2A isoform 2 precursor2002
Asc-type amino acid transporter 10202
Purine nucleoside phosphorylase0202
Hypoxanthine-guanine phosphoribosyltransferase0002
Ricin0101
2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase0011
Purine nucleoside phosphorylase 0012
Shiga toxin subunit A0101
Guanine deaminase0001
Chain A, HISTIDINE-BINDING PROTEIN0011
histone acetyltransferase KAT2A isoform 12002
Plasma kallikrein0002
Histidine-binding periplasmic protein0011
Adenosine receptor A10001
Adenosine receptor A2a0001
Carbonic anhydrase0002
Carbonic anhydrase0002
Large neutral amino acids transporter small subunit 10404
Glutaminyl-peptide cyclotransferase0101
Carbonic anhydrase 0002
Carbonic anhydrase0002
Carbonic anhydrase0002
Carbonic anhydrase 0002
Carbonic anhydrase 130001
Carbonic anhydrase 150002
Carbonic anhydrase 0101
acetylcholinesterase2002
Hsf1 protein0011
G2002
Carbonic anhydrase 0101
cytochrome P450 2C9 precursor1001
survival motor neuron protein isoform d2002
HLA class I histocompatibility antigen, B alpha chain 2002
Delta-type opioid receptor0101
Delta-type opioid receptor0101
Mu-type opioid receptor0101
Histamine H2 receptor1001
Guanine nucleotide-binding protein G1001
Mu-type opioid receptor0101
Carbonic anhydrase, alpha family 0101
Carbonic anhydrase 0101
Delta carbonic anhydrase0101
Inositol hexakisphosphate kinase 12002
cytochrome P450 2C9, partial2002
Proton-coupled amino acid transporter 10506
Chain B, Pulmonary surfactant-associated protein D0101
Chain A, Pulmonary surfactant-associated protein D0101
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
Sodium/myo-inositol cotransporter 20101
Chymotrypsinogen A0101
Chain A, AMINOPEPTIDASE0101
Chain A, AMINOPEPTIDASE0101
Chain A, Leucine Aminopeptidase0101
Alkaline phosphatase, tissue-nonspecific isozyme0202
Intestinal-type alkaline phosphatase0202
Phospholipase A-2-activating protein0202
chaperonin-containing TCP-1 beta subunit homolog1001
Synaptic vesicle glycoprotein 2A0101
Chain A, Beta-lactamase1001
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, 2-oxoglutarate Oxygenase4004
Fumarate hydratase1001
thioredoxin glutathione reductase2002
apical membrane antigen 1, AMA11001
progesterone receptor1001
cytochrome P450 2D61001
polyprotein1001
bromodomain adjacent to zinc finger domain 2B2002
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
hemoglobin subunit beta1001
cellular tumor antigen p53 isoform a1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
transcriptional regulator ERG isoform 31001
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
UDP-glucose 6-dehydrogenase0101
Solute carrier family 22 member 80001
Integrin beta-31001
Integrin alpha-IIb1001
UDP-glucose 6-dehydrogenase0101
Prostaglandin G/H synthase 10101
Purine nucleoside phosphorylase0011
UDP-glucuronosyltransferase 1A1 0101
glp-1 receptor, partial1001
GALC protein1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)2002
peroxisome proliferator activated receptor gamma2002
beta-2 adrenergic receptor1001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
Vpr1001
peripheral myelin protein 221001
5-hydroxytryptamine receptor 2A0011
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
Solute carrier family 22 member 10101
Solute carrier family 22 member 20101
Solute carrier family 22 member 1 0203
Voltage-dependent L-type calcium channel subunit alpha-1F0101
Sterol O-acyltransferase 10101
Solute carrier family 22 member 20101
Solute carrier family 22 member 30101
Acetylcholinesterase0202
Acetylcholinesterase 0101
DNA (cytosine-5)-methyltransferase 10101
Sterol O-acyltransferase 10101
Voltage-dependent L-type calcium channel subunit alpha-1D 0101
Voltage-dependent L-type calcium channel subunit alpha-1S0101
Voltage-dependent L-type calcium channel subunit alpha-1C0202
Solute carrier family 22 member 10202
Solute carrier family 22 member 20202
Solute carrier family 22 member 40101
DNA (cytosine-5)-methyltransferase 3-like0101
DNA (cytosine-5)-methyltransferase 3A0101
Glutamate 5-kinase0001
Angiotensin-converting enzyme 0101
Beta-1 adrenergic receptor 0113
D(1A) dopamine receptor1001
Voltage-dependent L-type calcium channel subunit alpha-1C0101
5-hydroxytryptamine receptor 40202
Cytochrome P450 1A20101
Beta-2 adrenergic receptor0213
ATP-dependent translocase ABCB10202
Beta-1 adrenergic receptor0213
5-hydroxytryptamine receptor 1A0101
Adenosine receptor A30112
Beta-2 adrenergic receptor0203
Cytochrome P450 2C80101
Cytochrome P450 2D60101
Beta-3 adrenergic receptor0213
D(2) dopamine receptor0112
Alpha-1B adrenergic receptor0112
Beta-1 adrenergic receptor0214
D(3) dopamine receptor0101
5-hydroxytryptamine receptor 1A0214
Alpha-2B adrenergic receptor0011
D(1A) dopamine receptor0112
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Alpha-2C adrenergic receptor0011
Alpha-2A adrenergic receptor0011
Alpha-1D adrenergic receptor0112
Alpha-1D adrenergic receptor0012
Endothelin-1 receptor0112
Beta-3 adrenergic receptor0202
5-hydroxytryptamine receptor 1B0213
5-hydroxytryptamine receptor 2A0213
5-hydroxytryptamine receptor 2C0213
5-hydroxytryptamine receptor 1B0202
Adenosine receptor A2a0112
Neuromedin-K receptor0011
Type-1 angiotensin II receptor0112
Sodium-dependent serotonin transporter0202
Cholecystokinin receptor type A0112
5-hydroxytryptamine receptor 70112
Beta-1 adrenergic receptor0101
Alpha-1A adrenergic receptor0124
Alpha-1B adrenergic receptor0012
Mu-type opioid receptor0112
Vasopressin V1a receptor0112
Delta-type opioid receptor0112
Kappa-type opioid receptor0112
5-hydroxytryptamine receptor 2B0213
Alpha-1A adrenergic receptor0112
5-hydroxytryptamine receptor 60213
5-hydroxytryptamine receptor 70101
Beta-2 adrenergic receptor0101
Sodium channel protein type 5 subunit alpha0101
Beta-2 adrenergic receptor0113
Nuclear receptor subfamily 2 group E member 10022
DNA polymerase kappa isoform 11001
Acetylcholinesterase0101
Pyruvate kinase PKM0011
Cholinesterase0101
Thymidine phosphorylase0101
Chain A, Trp Rna-binding Attenuation Protein0011
Chain K, Trp Rna-binding Attenuation Protein0011
Chain B, tryptophanyl-tRNA synthetase0011
Chain C, Tryptophanyl-tRNA synthetase II0011
Microtubule-associated protein tau1001
M-phase phosphoprotein 81001
Dihydrofolate reductase0202
Myeloperoxidase0101
Stromelysin-10101
Indoleamine 2,3-dioxygenase 10102
Substance-P receptor0101
Tryptophan 2,3-dioxygenase0102
SLC16A10 protein0001
Uracil nucleotide/cysteinyl leukotriene receptor0101
Tryprostatin B synthase0001
2-C-methyl-D-erythritol 2,4-cyclodiphosphate synthase0011
Monocarboxylate transporter 100001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]