Page last updated: 2024-09-28

Camurati-Engelmann Disease

An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.

Synonyms(8)

Synonym
Progressive Diaphyseal Dysplasia
Diaphyseal Hyperostosis
Camurati-Engelmann Syndrome
Camurati-Engelmann Disease
Diaphyseal Dysplasia 1, Progressive
Engelmann's Disease
Engelmann Disease
Diaphyseal Dysplasia, Progressive

Research Excerpts

Overview

ExcerptReference
"Progressive diaphyseal dysplasia is characterized clinically by crippling leg pain, fatigue, headache, poor appetite, muscle weakness, and waddling gait."( Alon, U; Berant, M; Kaftori, JK; Naveh, Y, 1985)
"It is argued that Engelmann's disease is not primarily a metabolic bone disease but may be a systemic disorder which might be included within the spectrum of the inflammatory connective tissue diseases."( Brenton, DP; Crisp, AJ, 1982)
"Camurati-Engelmann disease is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe limb pain, and progressive joint contractures in some patients."( Boduroglu, K; Bonafe, L; Campos-Xavier, B; Dikoglu, E; Simsek-Kiper, PO; Superti-Furga, A; Unger, S; Utine, GE, 2014)
"Camurati-Engelmann disease is an extremely rare disease characterized by hyperostosis of multiple long bones."( Choi, JH; Kang, E; Kim, GH; Kim, YM; Lee, BH; Yoo, HW, 2018)

Treatment

ExcerptReference
"A 27-year-old woman with progressive diaphyseal dysplasia (Camurati-Engelmann disease) received pamidronate and corticosteroid therapy for bone pain."( Aburano, T; Inaoka, T; Ishikawa, Y; Makita, Y; Sato, J; Shuke, N; Takahashi, K, 2001)

Research

Studies (91)

TimeframeStudies, This Condition (%)All Conditions %
pre-199021 (23.08)23.3326
1990's13 (14.29)12.5806
2000's28 (30.77)18.1394
2010's25 (27.47)28.8240
2020's4 (4.40)9.53
DrugIndicatedRelationship StrengthStudiesTrials
carnitine0low10
nitrous oxide0low10
acetazolamide0low20
alendronate0low20
betahistine0low10
celecoxib0low10
losartan0low80
activins0low10
pamidronate0low30
sevoflurane0low10
prednisolone0low90
prednisone0low80
pilocarpine0low10
serine0low10
methylprednisolone0low30
calcium gluconate0low10
ethylnitrosourea0low10
technetium0low30
thallium chloride0low10
transferrin0low10
tramadol0low10
vecuronium bromide0low10
propiconazole0low30
6-amino-1-hydroxyhexane-1,1-diphosphonate0low10
arginyl-glycyl-aspartic acid0low10
pyridinoline0low10
technetium tc 99m hydroxymethylene diphosphonate0low30
deflazacort0low10
thallium0low10
sulfur0low10
cysteine0low10
acid phosphatase0low10
jaw0low10
calcitonin0low10
transforming growth factor beta0low180
technetium tc 99m sulfur colloid0low10
technetium tc 99m medronate0low150

Protein Targets (408)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Geranylgeranyl pyrophosphate synthase0303
Farnesyl pyrophosphate synthase0606
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, CARBONIC ANHYDRASE II0011
Chain A, CARBONIC ANHYDRASE II0011
Chain A, CARBONIC ANHYDRASE II0011
Chain A, Carbonic Anhydrase Ii0011
Chain A, Carbonic Anhydrase Ii0011
Chain A, Beta-lactamase2002
Chain A, Endochitinase0101
Chain A, Endochitinase0101
Chain A, Endochitinase0101
Chain A, Class Iii Chitinase Chia10101
Chain A, Carbonic anhydrase 130101
Chain A, Carbonic anhydrase II0101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase0101
Chain B, Carbonic anhydrase0101
Chain A, Carbonic anhydrase 20101
Carbonic anhydrase 0002
Carbonic anhydrase 0202
thioredoxin reductase3003
GALC protein1001
GLI family zinc finger 38008
nuclear receptor subfamily 1, group I, member 33003
cytochrome P450 family 3 subfamily A polypeptide 46006
glucocorticoid receptor [Homo sapiens]110011
retinoic acid nuclear receptor alpha variant 18008
retinoid X nuclear receptor alpha6006
estrogen-related nuclear receptor alpha8008
Carbonic anhydrase 0202
Carbonic anhydrase 0202
arylsulfatase A3003
Carbonic anhydrase0202
euchromatic histone-lysine N-methyltransferase 24004
Bloom syndrome protein isoform 12002
thyroid hormone receptor beta isoform a4004
nuclear factor erythroid 2-related factor 2 isoform 17007
geminin5005
peripheral myelin protein 223003
survival motor neuron protein isoform d2002
muscleblind-like protein 1 isoform 12002
Gamma-aminobutyric acid receptor subunit pi3104
ATP-binding cassette sub-family C member 30505
Multidrug resistance-associated protein 40505
Carbonic anhydrase0101
Solute carrier family 22 member 60202
Carbonic anhydrase 120316
Prolyl endopeptidase0101
Carbonic anhydrase-related protein 110102
Bile salt export pump0707
Glycogen phosphorylase, muscle form0101
Renin0202
Carbonic anhydrase 10419
Carbonic anhydrase 20418
Carbonic anhydrase 20202
Cytochrome P450 1A20101
Carbonic anhydrase 30316
Cathepsin B0101
Cytochrome P450 3A40202
Steryl-sulfatase0101
5-hydroxytryptamine receptor 2C0101
Polyunsaturated fatty acid 5-lipoxygenase0202
Cytochrome P450 2C80101
Cytochrome P450 2D60202
Cytochrome P450 2A60213
Cytochrome P450 2C9 0404
5-hydroxytryptamine receptor 2A0101
Androgen receptor0404
Gamma-aminobutyric acid receptor subunit beta-13104
Translocator protein0101
Gamma-aminobutyric acid receptor subunit delta3104
Gamma-aminobutyric acid receptor subunit gamma-23104
Gamma-aminobutyric acid receptor subunit alpha-53104
Gamma-aminobutyric acid receptor subunit alpha-33104
Cannabinoid receptor 10101
Arachidonate 5-lipoxygenase-activating protein0101
Cytochrome P450 2B60101
Carbonic anhydrase 40315
Carbonic anhydrase 60315
Gamma-aminobutyric acid receptor subunit gamma-13104
Gamma-aminobutyric acid receptor subunit alpha-23104
Carbonic anhydrase 5A, mitochondrial0101
Adenosine receptor A10202
Serum paraoxonase/arylesterase 10101
Dipeptidyl peptidase 40001
Gamma-aminobutyric acid receptor subunit alpha-43104
Gamma-aminobutyric acid receptor subunit gamma-33104
Endochitinase0101
Gamma-aminobutyric acid receptor subunit alpha-63104
Adenosine receptor A2a0202
5-hydroxytryptamine receptor 2B0101
Sodium-dependent serotonin transporter0112
Delta-type opioid receptor0202
Cytochrome P450 2C190101
Delta-type opioid receptor0202
Mu-type opioid receptor0202
Carbonic anhydrase 5A, mitochondrial0316
Carbonic anhydrase0202
Kappa-type opioid receptor0101
Carbonic anhydrase 70315
Carbonic anhydrase0101
D(1A) dopamine receptor0101
Corticosteroid 11-beta-dehydrogenase isozyme 10101
Carbonic anhydrase0202
D(2) dopamine receptor0202
Gamma-aminobutyric acid receptor subunit alpha-13205
Gamma-aminobutyric acid receptor subunit beta-33104
Gamma-aminobutyric acid receptor subunit beta-23104
Cholinesterase0202
Carbonic anhydrase 0202
Mu-type opioid receptor0303
Fatty-acid amide hydrolase 10101
Beta-carbonic anhydrase 10202
Carbonic anhydrase 20202
Glutamate receptor ionotropic, NMDA 2B0101
Squalene synthase0202
Neuronal acetylcholine receptor subunit alpha-70101
Carbonic anhydrase 90417
Carbonic anhydrase0101
Carbonic anhydrase, alpha family 0202
Carbonic anhydrase 0202
Carbonic anhydrase 30101
Carbonic anhydrase0203
Carbonic anhydrase0203
Carbonic anhydrase 0202
Sigma intracellular receptor 20202
Delta carbonic anhydrase0202
Sigma non-opioid intracellular receptor 10101
Renin0101
Carbonic anhydrase 0202
Endochitinase A10101
Multidrug resistance-associated protein 10101
Carbonic anhydrase 130315
GABA theta subunit3104
Canalicular multispecific organic anion transporter 10505
Carbonic anhydrase 40404
Carbonic anhydrase 150203
Acidic mammalian chitinase0101
Carbonic anhydrase 130203
Carbonic anhydrase 70101
Gamma-aminobutyric acid receptor subunit epsilon3104
Carbonic anhydrase 0101
Carbonic anhydrase 140316
Carbonic anhydrase 0101
Carbonic anhydrase 2, isoform A 0101
Carbonic anhydrase 5B, mitochondrial0316
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, 2-oxoglutarate Oxygenase2002
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
acetylcholinesterase3003
dopamine D1 receptor1001
15-lipoxygenase, partial1001
pregnane X receptor5005
phosphopantetheinyl transferase3003
RAR-related orphan receptor gamma4004
USP1 protein, partial2002
NFKB1 protein, partial1001
Microtubule-associated protein tau1001
Thrombopoietin2002
AR protein8008
regulator of G-protein signaling 43003
farnesoid X nuclear receptor3003
estrogen nuclear receptor alpha100010
vitamin D (1,25- dihydroxyvitamin D3) receptor4004
D(1A) dopamine receptor1001
thyroid hormone receptor beta isoform 24004
heat shock protein beta-12002
flap endonuclease 11001
muscarinic acetylcholine receptor M13003
Histone deacetylase 30202
Histone deacetylase 40202
Guanine nucleotide-binding protein G2002
Histone deacetylase 10202
Histone deacetylase 70202
Histone deacetylase 20202
Polyamine deacetylase HDAC100202
Histone deacetylase 11 0202
Ataxin-26006
Histone deacetylase 80202
Histone deacetylase 60202
Histone deacetylase 90202
Histone deacetylase 50202
ATP-dependent phosphofructokinase4004
Chain A, farnesyl pyrophosphate synthase0101
Acetylcholinesterase0101
Hypoxanthine-guanine phosphoribosyltransferase0202
Farnesyl pyrophosphate synthase 0202
Farnesyl pyrophosphate synthase 0101
DNA polymerase kappa isoform 12002
Integrin beta-30101
Integrin beta-10101
Integrin alpha-V 0101
Integrin alpha-IIb0101
Integrin alpha-50101
Integrin beta-50101
Histamine H3 receptor0101
Potassium channel subfamily K member 30101
Potassium channel subfamily K member 30101
Potassium channel subfamily K member 20011
Potassium channel subfamily K member 90101
Solute carrier family 22 member 50001
Solute carrier family 22 member 50001
Solute carrier family 22 member 160001
Solute carrier family 22 member 210001
Solute carrier family 22 member 50001
Chain A, Carbonic anhydrase II0101
Chain A, Cruzipain2002
GTP-binding protein (rab7)0011
ras protein, partial0011
glp-1 receptor, partial3003
hypoxia-inducible factor 1 alpha subunit4004
SMAD family member 22002
PPM1D protein2002
SMAD family member 32002
TDP1 protein6006
Smad31001
caspase 7, apoptosis-related cysteine protease1001
thyroid stimulating hormone receptor2002
estrogen receptor 2 (ER beta)3003
progesterone receptor7007
EWS/FLI fusion protein1001
pregnane X nuclear receptor6006
G3003
cytochrome P450 2D62002
67.9K protein1001
peroxisome proliferator-activated receptor delta2002
peroxisome proliferator activated receptor gamma3003
Rac1 protein0011
caspase-31001
IDH12002
cell division cycle 42 (GTP binding protein, 25kDa), partial0011
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a6006
thyroid stimulating hormone receptor1001
activating transcription factor 62002
thyrotropin-releasing hormone receptor1001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
v-jun sarcoma virus 17 oncogene homolog (avian)4004
Histone H2A.x1001
Caspase-71001
interferon gamma precursor0001
prostaglandin E2 receptor EP2 subtype0001
nuclear factor erythroid 2-related factor 2 isoform 24004
potassium voltage-gated channel subfamily H member 2 isoform d1001
caspase-31001
cytochrome P450 3A4 isoform 13003
lamin isoform A-delta103003
Prostaglandin E synthase0101
3-phosphoinositide-dependent protein kinase 10101
Prostaglandin G/H synthase 1 0101
Prostaglandin G/H synthase 2 0101
cGMP-specific 3',5'-cyclic phosphodiesterase0101
Cytochrome c oxidase subunit 10101
Cytochrome c oxidase subunit 20101
Catechol O-methyltransferase0101
Voltage-dependent calcium channel gamma-2 subunit3003
Cytochrome c oxidase subunit 20101
Interferon beta5005
HLA class I histocompatibility antigen, B alpha chain 3003
Cellular tumor antigen p534004
Prostaglandin G/H synthase 10101
Procathepsin L0101
Aldo-keto reductase family 1 member B10202
Seed linoleate 13S-lipoxygenase-10101
Neuronal acetylcholine receptor subunit alpha-40101
Quinolone resistance protein NorA0101
Adenosine receptor A30202
Neuronal acetylcholine receptor subunit beta-20101
Beta-3 adrenergic receptor0202
Alpha-1B adrenergic receptor0202
Calpain-2 catalytic subunit0101
Alpha-2B adrenergic receptor0202
5-hydroxytryptamine receptor 1A0202
Glutamate receptor 23003
D(1A) dopamine receptor0202
Prostaglandin G/H synthase 10101
Prostaglandin G/H synthase 10102
Sodium-dependent noradrenaline transporter 0202
Cruzipain0101
Sodium/hydrogen exchanger 10101
Indoleamine 2,3-dioxygenase 10101
Sodium-dependent serotonin transporter0202
Bifunctional epoxide hydrolase 20101
Prostaglandin G/H synthase 20315
Prostaglandin G/H synthase 2 0101
Alpha-1A adrenergic receptor0202
Urotensin-2 receptor0101
Nuclear receptor ROR-gamma2002
Ras-related protein Rab-2A0011
Prostaglandin G/H synthase 20202
Sodium-dependent dopamine transporter 0202
Prostaglandin G/H synthase 20101
Mitogen-activated protein kinase 140101
Prostaglandin G/H synthase 1 0101
Prostaglandin G/H synthase 10101
Cyclooxygenase-2 0101
Rap guanine nucleotide exchange factor 41001
Inositol hexakisphosphate kinase 13003
ATPase family AAA domain-containing protein 55005
P2Y purinoceptor 120101
cytochrome P450 2C9, partial3003
GLS protein2002
vitamin D3 receptor isoform VDRA3003
chromobox protein homolog 13003
aryl hydrocarbon receptor3003
nuclear receptor subfamily 1, group I, member 23003
interleukin 81001
lethal factor (plasmid)2002
Neutral amino acid transporter A0202
Asc-type amino acid transporter 10101
Neutral amino acid transporter B(0)0202
Proton-coupled amino acid transporter 10202
Amino acid transporter0202
ATAD5 protein, partial1001
Chymotrypsinogen A0101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
histone acetyltransferase KAT2A isoform 12002
ATP-dependent translocase ABCB10001
Neprilysin0101
Angiotensin-converting enzyme 0101
Atrial natriuretic peptide receptor 30101
Thromboxane A2 receptor 0102
Type-1A angiotensin II receptor 0213
cAMP-specific 3',5'-cyclic phosphodiesterase 4A0101
Type-1B angiotensin II receptor0202
Type-1 angiotensin II receptor0215
Type-1 angiotensin II receptor0112
Type-2 angiotensin II receptor0202
Type-2 angiotensin II receptor0101
Spike glycoprotein3003
cAMP-specific 3',5'-cyclic phosphodiesterase 4B0101
cAMP-specific 3',5'-cyclic phosphodiesterase 4C0101
cAMP-specific 3',5'-cyclic phosphodiesterase 4D0101
cGMP-inhibited 3',5'-cyclic phosphodiesterase B0101
cGMP-inhibited 3',5'-cyclic phosphodiesterase A0101
Multidrug and toxin extrusion protein 10202
Platelet glycoprotein VI0113
Solute carrier organic anion transporter family member 1B30202
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Type-1 angiotensin II receptor0112
Solute carrier organic anion transporter family member 1B10202
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)2002
nonstructural protein 12002
bromodomain adjacent to zinc finger domain 2B1001
Nuclear receptor subfamily 1 group I member 20011
Glucocorticoid receptor06213
Glycine receptor subunit alpha-10606
Glycine receptor subunit beta0606
Glycine receptor subunit alpha-20606
Glycine receptor subunit alpha-30606
Nuclear receptor subfamily 1 group I member 20011
cytochrome P450 2C19 precursor1001
cytochrome P450 2C9 precursor1001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
Muscarinic acetylcholine receptor M20112
Muscarinic acetylcholine receptor M10203
Muscarinic acetylcholine receptor M30203
Muscarinic acetylcholine receptor M40203
Muscarinic acetylcholine receptor M50203
Muscarinic acetylcholine receptor M50101
Muscarinic acetylcholine receptor M20203
Muscarinic acetylcholine receptor M10123
Muscarinic acetylcholine receptor M10011
Muscarinic acetylcholine receptor DM10101
Histamine H2 receptor2002
Cytochrome P450 2A130112
luciferase0001
Fatty acid-binding protein, liver0101
Estrogen receptor0202
Progesterone receptor0203
Glucocorticoid receptor0112
Glucocorticoid receptor0011
Corticosteroid-binding globulin0101
Mineralocorticoid receptor 0213
Androgen receptor0202
Glutamine synthetase0011
Histamine H1 receptor0011
Nociceptin receptor0011
Cytochrome P450 2J20101
Estrogen receptor beta0202
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
thioredoxin glutathione reductase1001
aldehyde dehydrogenase 1 family, member A11001
nuclear receptor ROR-gamma isoform 12002
Chain A, Ferritin light chain1001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
heat shock protein HSP 90-alpha isoform 20001
DNA polymerase iota isoform a (long)1001
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
TAR DNA-binding protein 431001
heat shock protein 90, putative0001
Acetylcholinesterase0101
Pyruvate kinase PKM0011
Solute carrier family 22 member 1 0101
Mu-type opioid receptor0112
Delta-type opioid receptor0101
Kappa-type opioid receptor0101
Solute carrier family 22 member 20101
Multidrug and toxin extrusion protein 20101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]