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CAEND
MCID: CMR001
MIFTS: 61

Camurati-Engelmann Disease (CAEND)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Camurati-Engelmann Disease

About this section

MalaCards integrated aliases for Camurati-Engelmann Disease:

Name: Camurati-Engelmann Disease 58 12 77 25 54 26 60 76 38 13 56 15
Progressive Diaphyseal Dysplasia 58 12 77 25 54 26 60 76
Diaphyseal Dysplasia 1, Progressive 58 54 76 74
Diaphyseal Dysplasia 12 26 30 6
Engelmann Disease 58 54 26 76
Ced 58 54 26 76
Pdd 58 54 26 76
Camurati-Engelmann Syndrome 26 45 74
Dpd1 58 54 76
Caend 58 76
Diaphyseal Dysplasia 1, Progressive; Dpd1 58
Progressive Diaphyseal Dysplasia; Pdd 58
Camurati-Engelmann Disease ) 41
Diaphyseal Osteosclerosis 26
Diaphyseal Hyperostosis 26
Engelman's Disease 12

Characteristics:

Orphanet epidemiological data:

60
camurati-engelmann disease
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

58
Miscellaneous:
waddling gait
onset in childhood
leg pain

Inheritance:
autosomal dominant


HPO:

33
camurati-engelmann disease:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Some obligate heterozygotes with an identified tgfb1 pathogenic variant have had normal radiographs [wallace et al 2004]; an exact penetrance figure is not known...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Camurati-Engelmann Disease

About this section
NIH Rare Diseases : 54 Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age that symptoms begin varies greatly, but most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene and inheritance is autosomal dominant. In some cases, people have the gene mutation that causes Camurati-Engelmann disease but they never develop symptoms. In others, symptoms are present, but a gene mutation cannot be found. These cases are referred to as Camurati-Engelmann disease type 2. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition. Treatment options  to control symptoms may include corticosteroid therapy, losartan as an adjuvant therapy to minimize the need for steroids, pain medications, and craniectomy to reduce intracranial pressure and headaches.

MalaCards based summary : Camurati-Engelmann Disease, also known as progressive diaphyseal dysplasia, is related to craniodiaphyseal dysplasia and hyperostosis, and has symptoms including waddling gait, headache and pain in lower limb. An important gene associated with Camurati-Engelmann Disease is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are TGF-beta signaling pathway and Parathyroid hormone synthesis, secretion and action. The drugs Irbesartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and kidney, and related phenotypes are abnormality of the ulna and cachexia

Disease Ontology : 12 An osteosclerosis that has material basis in mutations in the TGFB1 gene which results in increased bone density located in long bone.

Genetics Home Reference : 26 Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull.

OMIM : 58 Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is the cortical thickening of the diaphyses of the long bones. Hyperostosis is bilateral and symmetrical and usually starts at the diaphyses of the femora and tibiae, expanding to the fibulae, humeri, ulnae, and radii. As the disease progresses, the metaphyses may be affected as well, but the epiphyses are spared. Sclerotic changes at the skull base may be present. The onset of the disease is usually during childhood and almost always before the age of 30. Most patients present with limb pain, muscular weakness, a waddling gait, and easy fatigability. Systemic manifestations such as anemia, leukopenia, and hepatosplenomegaly occur occasionally (summary by Janssens et al., 2006). (131300)

UniProtKB/Swiss-Prot : 76 Camurati-Engelmann disease: An autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision.

Wikipedia : 77 Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes... more...

GeneReviews: NBK1156
Sources

Related Diseases for Camurati-Engelmann Disease

About this section

Diseases in the Camurati-Engelmann Disease family:

Camurati-Engelmann Disease, Type 2

Diseases related to Camurati-Engelmann Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 craniodiaphyseal dysplasia 30.6 LRP5 TGFB1
2 hyperostosis 30.0 LRP5 TGFB1
3 camurati-engelmann disease, type 2 13.0
4 cranioectodermal dysplasia 1 11.9
5 ghosal hematodiaphyseal dysplasia 11.9
6 atypical autism 11.7
7 pervasive developmental disorder 11.7
8 ribbing disease 11.6
9 autism 11.5
10 caspase 8 deficiency 11.3
11 asperger syndrome 11.3
12 classic ehlers-danlos syndrome 11.1
13 autism x-linked 1 11.1
14 autism x-linked 2 11.1
15 autism x-linked 3 11.1
16 autism x-linked 4 11.1
17 autism x-linked 5 11.1
18 autism x-linked 6 11.1
19 autism 8 11.1
20 autism 3 11.1
21 autism 6 11.1
22 autism 7 11.1
23 autism 11 11.1
24 autism 12 11.1
25 autism 13 11.1
26 autism 9 11.1
27 autism 10 11.1
28 autism 15 11.1
29 autism 16 11.1
30 autism 17 11.1
31 autism 18 11.1
32 cranioectodermal dysplasia 2 11.1
33 cranioectodermal dysplasia 3 11.1
34 cranioectodermal dysplasia 4 11.1
35 dysthymic disorder 10.9
36 hypogonadism 10.5
37 hypogonadotropism 10.5
38 laryngeal adductor paralysis 10.4
39 aceruloplasminemia 10.4
40 angioid streaks 10.4
41 otosclerosis 10.4
42 amenorrhea 10.4
43 hypothyroidism 10.4
44 papilledema 10.4
45 enchondroma 10.4
46 fibromatosis 10.4
47 dementia 10.3
48 lattice corneal dystrophy 10.2 TGFB1 TGIF1
49 bone fracture 10.2 BGLAP TGFB1
50 attention deficit-hyperactivity disorder 10.1

Graphical network of the top 20 diseases related to Camurati-Engelmann Disease:



Diseases related to Camurati-Engelmann Disease
Sources

Symptoms & Phenotypes for Camurati-Engelmann Disease

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Human phenotypes related to Camurati-Engelmann Disease:

60 33 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ulna 60 33 hallmark (90%) Very frequent (99-80%) HP:0002997
2 cachexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004326
3 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
4 hyperostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100774
5 elevated aldolase level 60 33 hallmark (90%) Very frequent (99-80%) HP:0012544
6 aplasia/hypoplasia of the radius 60 33 hallmark (90%) Very frequent (99-80%) HP:0006501
7 cortical thickening of long bone diaphyses 60 33 hallmark (90%) Very frequent (99-80%) HP:0005791
8 abnormality of the humerus 60 33 hallmark (90%) Very frequent (99-80%) HP:0003063
9 craniofacial osteosclerosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005464
10 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
11 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
12 waddling gait 60 33 frequent (33%) Frequent (79-30%) HP:0002515
13 abnormality of tibia morphology 60 33 frequent (33%) Frequent (79-30%) HP:0002992
14 metaphyseal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0100255
15 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
16 genu valgum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002857
17 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
18 neurological speech impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002167
19 scoliosis 60 33 very rare (1%) Occasional (29-5%) HP:0002650
20 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
21 hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003307
22 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
23 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
24 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
25 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
26 carious teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000670
27 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
28 abnormal facial shape 60 33 occasional (7.5%) Occasional (29-5%) HP:0001999
29 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
30 feeding difficulties in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008872
31 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
32 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
33 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
34 sensory neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000763
35 delayed eruption of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000684
36 coxa valga 60 33 occasional (7.5%) Occasional (29-5%) HP:0002673
37 anorexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002039
38 hypogonadism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000135
39 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
40 slender build 60 33 occasional (7.5%) Occasional (29-5%) HP:0001533
41 abnormality of pelvic girdle bone morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0002644
42 proptosis 60 33 very rare (1%) Occasional (29-5%) HP:0000520
43 abnormal subcutaneous fat tissue distribution 60 33 occasional (7.5%) Occasional (29-5%) HP:0007552
44 leukopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001882
45 urinary retention 60 33 occasional (7.5%) Occasional (29-5%) HP:0000016
46 elevated erythrocyte sedimentation rate 60 33 occasional (7.5%) Occasional (29-5%) HP:0003565
47 optic nerve compression 60 33 occasional (7.5%) Occasional (29-5%) HP:0007807
48 muscle weakness 60 33 very rare (1%) Frequent (79-30%) HP:0001324
49 easy fatigability 33 very rare (1%) HP:0003388
50 lower limb pain 33 very rare (1%) HP:0012514

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
diplopia
optic nerve compression
exophthalmos

Endocrine Features:
delayed puberty

Skeletal Skull:
sclerosis of skull base
mandible involvement

Neurologic Central Nervous System:
headaches

Growth Other:
asthenic habitus

Muscle Soft Tissue:
relative muscle weakness, especially in pelvic girdle
atrophic muscle fiber on biopsy

Skeletal Spine:
scoliosis
sclerosis of posterior part of vertebrae (body and arches)

Hematology:
anemia
bone marrow hypoplasia

Head And Neck Ears:
deafness

Head And Neck Teeth:
dental caries

Skeletal Limbs:
progressive diaphyseal widening
thickened cortices
narrowing of medullary canal
erlenmeyer flask defect
genu varus deformity
more

Clinical features from OMIM:

131300

UMLS symptoms related to Camurati-Engelmann Disease:


waddling gait, headache, pain in lower limb
Sources

Drugs & Therapeutics for Camurati-Engelmann Disease

About this section

Drugs for Camurati-Engelmann Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 501)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Irbesartan Approved, Investigational Phase 4,Phase 2 138402-11-6 3749
2
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 11128-99-7, 68521-88-0, 4474-91-3 172198
3
carbamide peroxide Approved Phase 4 124-43-6
4
Losartan Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 114798-26-4 3961
5
Pentoxifylline Approved, Investigational Phase 4,Phase 1,Phase 2 6493-05-6 4740
6
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
7
Candesartan cilexetil Approved Phase 4,Phase 1,Phase 2,Not Applicable 145040-37-5 2540
8
Olmesartan Approved, Investigational Phase 4,Phase 3 144689-24-7, 144689-63-4 158781 130881
9
Telmisartan Approved, Investigational Phase 4,Phase 2,Not Applicable 144701-48-4 65999
10
Sirolimus Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 53123-88-9 46835353 5284616 6436030
11
Prednisone Approved, Vet_approved Phase 4,Phase 3 53-03-2 5865
12
Mycophenolic acid Approved Phase 4,Not Applicable 24280-93-1 446541
13
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 22916-47-8 4189
14
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
15
Everolimus Approved Phase 4,Phase 1,Phase 2,Not Applicable 159351-69-6 70789204 6442177
16
Atorvastatin Approved Phase 4 134523-00-5 60823
17
Montelukast Approved Phase 4,Phase 3 158966-92-8 5281040
18
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
19
Thiopental Approved, Vet_approved Phase 4,Not Applicable 76-75-5 3000715
20
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
21
Atracurium Approved, Experimental, Investigational Phase 4,Not Applicable 64228-79-1 47319
22
Aspirin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-78-2 2244
23
tannic acid Approved Phase 4,Not Applicable 1401-55-4
24
Benzocaine Approved, Investigational Phase 4,Not Applicable 1994-09-7, 94-09-7 2337
25
Minoxidil Approved, Investigational Phase 4 38304-91-5 4201
26
Clobetasol Approved, Experimental, Investigational Phase 4,Not Applicable 25122-46-7, 25122-41-2 5311051 32798
27
Miltefosine Approved, Investigational Phase 4 58066-85-6 3600
28
Eplerenone Approved Phase 4 107724-20-9 443872 150310
29
Ramipril Approved Phase 4 87333-19-5 5362129
30
Desflurane Approved Phase 4 57041-67-5 42113
31
Remifentanil Approved Phase 4,Not Applicable 132875-61-7 60815
32
Amlodipine Approved Phase 4 88150-42-9 2162
33
Coal tar Approved Phase 4 8007-45-2
34
Zinc Approved, Investigational Phase 4,Phase 1,Not Applicable 7440-66-6 32051
35
Norethindrone Approved Phase 4 68-22-4 6230
36
Linagliptin Approved Phase 4 668270-12-0 10096344
37
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
38
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
39
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
40
Ribavirin Approved Phase 4 36791-04-5 37542
41
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
42
alemtuzumab Approved, Investigational Phase 4 216503-57-0
43
Tadalafil Approved, Investigational Phase 4,Phase 2 171596-29-5 110635
44
Adenosine Approved, Investigational Phase 4 58-61-7 60961
45
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
46
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7440-70-2 271
47
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
48
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
49
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 1406-16-2
50
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 67-97-0 5280795 6221

Interventional clinical trials:

(show top 50) (show all 424)
# Name Status NCT ID Phase Drugs
1 Omegaven (w-3 Fish Oil) Supplemented Parenteral Nutrition in Subjects of SICU. Unknown status NCT00172198 Phase 4 Omegaven 10%
2 Irbesartan and Adhesion Molecules in AF Unknown status NCT00613496 Phase 4 irbesartan;placebo
3 Renoprotection by Pentoxifylline and Angiotensin Receptor Blocker in Chronic Kidney Disease (CKD) Unknown status NCT01377285 Phase 4 ARB;Pentoxifylline;Placebo (for Pentoxifylline)
4 Investigator Initiated Randomized Open-label Comparative Study of Britomar (Prolonged Release Torasemide) and Diuver (Torasemide) to Assess Effects on Natriuresis and Central Hemodynamics. Unknown status NCT02087332 Phase 4 Prolonged release Torasemide (Britomar);Torasemide (Diuver)
5 Cytokines Evaluation in Early Calcineurin Inhibitors Withdrawn on Renal Transplant Unknown status NCT01239472 Phase 4 everolimus
6 Effects of Short-term Atorvastatin Treatment on Vaccination Efficacy in Nonresponder Persons to Hepatitis B Vaccine Unknown status NCT01548326 Phase 4 Atorvastatin;placebo
7 Evaluation Effects of Treatment With IL-6R Inhibitor on Clinical Response and Biomarkers in Patients With Rheumatoid Arthritis (RA) Not Responding to DMARDs and/or a First Biological Agent. Unknown status NCT01835613 Phase 4
8 Clinical Study of Treating Type 2 Diabetic Nephropathy With Alfacalcidol and Irbesartan Unknown status NCT03147677 Phase 4 Alfacalcidol;Irbesartan
9 Anti-proteinuric Effect of Calcitriol in Non-diabetic Kidney Disease Patients Unknown status NCT01512862 Phase 4 Calcitriol;Placebo
10 The Effect of Vitamin A Supplementation on Cytokine Profile in Obesity Unknown status NCT01405352 Phase 4
11 The Effects of Vitamin D on Angiogenic Factors in Women With Polycystic Ovary Syndrome Completed NCT02460380 Phase 4 Vitamin D3
12 Effect of Montelukast on Remodelling Markers in Asthmatic Children Completed NCT00875082 Phase 4 Montelukast;placebo
13 Topical 5% Minoxidil and Potent Topical Corticosteroid Versus Intralesional Corticosteroid in the Treatment of Alopecia Areata Completed NCT03535233 Phase 4 Triamcinolone Acetonide;Minoxidil 5 % Topical Spray;clobetasol propionate
14 A Study to Explore Association of Treatment Regimens for Visceral Leishmaniasis, Host Immunological, Genetical and Nutrition Factors With Post-kala-azar Dermal Leishmaniasis (PKDL) Completed NCT01975051 Phase 4 Mitefosine
15 The Effect of Various Types of the Renin-angiotensin-aldosterone System Blockade on Proteinuria Completed NCT01541267 Phase 4 aliskiren, eplerenon, telmisartan
16 Ramipril Treatment of Claudication Recruiting NCT02842424 Phase 4 Ramipril
17 A Comparison of Propofol Based Total Intravenous Anesthesia and Desflurane Based Balanced Anesthesia on Renal Protection During Deceased Brain Dead Donor Kidney Transplantation - A Prospective, Randomized Trial Completed NCT01870011 Phase 4 Desflurane balanced anesthesia;Propofol total intravenous anesthesia
18 Treatment of Intrabony Periodontal Defects With Enamel Matrix Derivatives and Autogenous Bone Graft Completed NCT02218515 Phase 4
19 Antiproteinuric Efficacy of Losartan Potassium in Patients With Non-Diabetic Proteinuric Renal Diseases (0954-213) Completed NCT00140985 Phase 4 MK0954, losartan potassium/Duration of Treatment: 20 weeks;Comparator: amlodipine / Duration of Treatment: 20 weeks
20 Optimizing Prograf® Therapy in Renal Transplant Patients Completed NCT00297765 Phase 4 Tacrolimus, Prograf®
21 The Effect of Proprioception of Platelet Rich Plasma for Patients With Ankle Sprain Recruiting NCT03808454 Phase 4 PRP
22 C-Reactive Protein (CRP) in Obese Diabetic Women Completed NCT00262548 Phase 4 Rosuvastatin; improvement of lipid profile
23 The Effect of Aspirin Desensitization on Patients With Aspirin-exacerbated Respiratory Diseases Completed NCT01867281 Phase 4 aspirin
24 Insulin Therapy Reduce Post-Operative Inflammatory Response After Curative Colorectal Cancer Resection: Randomization Controlled Trial Not yet recruiting NCT02746432 Phase 4 Hyper insulinemic euglycemic clamp
25 Influence of Probiotic VSL#3 Administration on Metabolic and Immunological Profile of the Milk of Breastfeeding Mothers Completed NCT01367470 Phase 4
26 The Effect of Norethisterone Enanthate on Recurrent Bacterial Vaginosis Recruiting NCT02905890 Phase 4 Norethisterone enantate
27 Rapid Effects Linagliptin on Monocyte Polarization and Endothelial Progenitor Cells in Type 2 Diabetes Completed NCT01617824 Phase 4 Linagliptin;Placebo
28 Gingival Recession Coverage With and Without Emdogain Completed NCT02230787 Phase 4
29 A Study Of Maraviroc In HIV Co-Infected Subjects With Hepatitis C And/Or Hepatitis B Completed NCT01327547 Phase 4 Maraviroc;Placebo
30 Lactobacillus Plantarum 3547 Effects Over Inflammatory and Immunologic Markers Completed NCT02622867 Phase 4
31 A Study of PEGASYS (Peginterferon Alfa-2a (40KD)) Plus COPEGUS (Ribavirin) With or Without Pioglitazone in Treatment-Naive Patients With Chronic Hepatitis C and Insulin Resistance. Completed NCT00545233 Phase 4 peginterferon alfa-2a [Pegasys];ribavirin [Copegus];Pioglitazone
32 GLP-1 Receptor Agonist Therapy and Albuminuria in Patients With Type 2 Diabetes Not yet recruiting NCT03029351 Phase 4 Exenatide Extended Release for Inj Susp 2 MG;Placebos
33 Consequences of Anti-interleukin 6 Immunotherapy Treatment for Rheumatoid Arthritis on Periodontium Terminated NCT01806974 Phase 4
34 Immunomodulation With Romiplostim in Young Adults With ITP Recruiting NCT02760251 Phase 4 romiplostim
35 Alemtuzumab in Autoimmune Inflammatory Neurodegeneration: Mechanisms of Action and Neuroprotective Potential Recruiting NCT02419378 Phase 4 Alemtuzumab
36 Effect of Sublingual Immunotherapy in Patients With Atopic Dermatitis Active, not recruiting NCT03388866 Phase 4 Mite extract sublingual immunotherapy (SLIT)
37 REmodelling in Diabetic CardiOmapathy: Gender Response to PDE5i InhibiTOrs Recruiting NCT01803828 Phase 4 Tadalafil;Placebo
38 Pentoxifylline in Lupus Nephritis Not yet recruiting NCT03859570 Phase 4 Pentoxifylline;Placebos
39 The Thoracic Peri-Operative Integrative Surgical Care Evaluation (POISE) Trial- Stage I Recruiting NCT02845479 Phase 4
40 Study of Arimidex and Radiotherapy Sequencing Unknown status NCT01402193 Phase 3 Pre-radiotherapy commencement of Arimidex;Post radiotherapy commencement of Arimidex
41 GTN Therapy on Biomarkers of Immune Escape in Men With Biochemical Recurrence of Prostate Cancer After Primary Therapy Unknown status NCT01704274 Phase 3
42 Impact of Melatonin in the Pretreatment of Organ Donor and the Influence in the Evolution of Liver Transplant. Unknown status NCT01860716 Phase 3 Melatonin;Placebo
43 Platelet Gel in Systemic Sclerosis Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
44 Dextromethorphan and Silymarin in Chronic Kidney Disease (CKD) Patients Unknown status NCT01091324 Phase 3 Dextromethorphan;Silymarin;sugar pill
45 Tonsillar Cytokine Expression After Allergen and/or Virus Intervention Unknown status NCT01924208 Phase 3
46 25-Gauge Vitrectomy With Ranibizumab or Triamcinolone Acetonide on Proliferative Diabetic Retinopathy in China Unknown status NCT02328118 Phase 2, Phase 3 Ranibizumab;Triamcinolone Acetonide
47 Acetylsalicylic Acid and Colorectal Cancer Prevention: Exploring the Platelet Function of Its Mechanism of Action Unknown status NCT02125409 Phase 3 Acetylsalicylic acid
48 Effects of Short-chain Fatty Acids on Inflammatory and Metabolic Parameters in Maintenance Hemodialysis Unknown status NCT02976688 Phase 2, Phase 3
49 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome Withdrawn NCT01361087 Phase 3
50 Effects and Safety of Budesonide Inhalation Suspension Via Transnasal Nebulization in Nasal Polyps Completed NCT02024659 Phase 2, Phase 3 budesonide

Search NIH Clinical Center for Camurati-Engelmann Disease

Cochrane evidence based reviews: camurati-engelmann syndrome

Sources

Genetic Tests for Camurati-Engelmann Disease

About this section

Genetic tests related to Camurati-Engelmann Disease:

# Genetic test Affiliating Genes
1 Diaphyseal Dysplasia 30 TGFB1
Sources

Anatomical Context for Camurati-Engelmann Disease

About this section

MalaCards organs/tissues related to Camurati-Engelmann Disease:

42
Bone, Breast, Kidney, Lung, Liver, Skin, T Cells

The Foundational Model of Anatomy Ontology organs/tissues related to Camurati-Engelmann Disease:

20
Long Bone
Sources

Publications for Camurati-Engelmann Disease

About this section

Articles related to Camurati-Engelmann Disease:

(show top 50) (show all 123)
# Title Authors Year
1
Observations on the Natural History of Camurati-Engelmann Disease. ( 30690794 )
2019
2
Camurati-Engelmann Disease. ( 30721323 )
2019
3
Failure of conventional treatment and losartan in Camurati-Engelmann disease: A case report. ( 29452301 )
2018
4
Regarding Camurati-Engelmann Disease: To the Editor. ( 29564056 )
2018
5
Regarding Camurati-Engelmann Disease: In Reply. ( 29564057 )
2018
6
Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series. ( 29620655 )
2018
7
Total Hip Arthroplasty in a Patient with Camurati-Engelmann Disease: A Case Report. ( 29952779 )
2018
8
Camurati-Engelmann disease: a case report from sub-Saharan Africa. ( 30034812 )
2018
9
Bone-targeted delivery of TGF-β type 1 receptor inhibitor rescues uncoupled bone remodeling in Camurati-Engelmann disease. ( 30091466 )
2018
10
Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease. ( 29230158 )
2017
11
Pain improvement in Camurati-Engelmann disease after anti-TNFα therapy. ( 29184006 )
2017
12
Camurati-Engelmann disease: New clinical insights in an Egyptian case report. ( 28943142 )
2017
13
Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease. ( 28842728 )
2017
14
Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report. ( 28682867 )
2017
15
A Rare Sporadic Case of Camurati-Engelmann Disease With Jaw Involvement. ( 28499806 )
2017
16
Orthopedic Manifestations of Type I Camurati-Engelmann Disease. ( 28261436 )
2017
17
Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease. ( 27959412 )
2017
18
An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes. ( 27928112 )
2017
19
Camurati-Engelmann disease. ( 26830437 )
2017
20
Angioid streaks in a case of Camurati-Engelmann disease. ( 28724827 )
2017
21
Imaging aspects of Camurati-Engelmann disease. ( 28001254 )
2016
22
Reduced Dentin Matrix Protein Expression in Camurati-Engelmann Disease Transgenic Mouse Model. ( 26427011 )
2016
23
Bilateral papilloedema in Camurati-Engelmann disease. ( 26286906 )
2015
24
Camurati-engelmann disease association with hypogonadism and primary hypothyroidism. ( 25389497 )
2014
25
Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance. ( 25145018 )
2014
26
Elimination of pain and improvement of exercise capacity in Camurati-Engelmann disease with losartan. ( 25140400 )
2014
27
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation. ( 25099136 )
2014
28
Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred. ( 24154985 )
2014
29
Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report. ( 23368730 )
2013
30
Menière-like syndrome in Camurati-Engelmann disease. ( 23943989 )
2013
31
Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. ( 23824952 )
2013
32
Anesthesia for a child with Camurati-Engelmann disease. ( 23577825 )
2013
33
[Camurati-Engelmann disease: a case report]. ( 24141349 )
2013
34
Transforming growth factor-β1 gene mutations and phenotypes in pediatric patients with Camurati‑Engelmann disease. ( 23503840 )
2013
35
Camurati-Engelmann disease--a rare cause of bone pain. ( 22372177 )
2012
36
Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease. ( 22044122 )
2012
37
Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand. ( 21541994 )
2011
38
Papilledema with Camurati-Engelmann disease instigating loss of ganglion cell complex thickness. ( 21331705 )
2011
39
Skull base manifestations of Camurati-Engelmann disease. ( 20566907 )
2010
40
Unusual association between enchondroma and Camurati-Engelmann disease: a case report. ( 19943817 )
2010
41
The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis. ( 19654961 )
2009
42
Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. ( 19214502 )
2009
43
Camurati-Engelmann disease on a 99mTc-HMDP bone scan. ( 18690431 )
2008
44
A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease. ( 18095072 )
2008
45
A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease. ( 17433803 )
2007
46
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease. ( 17206397 )
2007
47
[A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease]. ( 17029195 )
2006
48
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. ( 15894597 )
2006
49
Camurati-Engelmann disease in conjunction with hypogonadism. ( 16638728 )
2005
50
Mesenteric fibromatosis in a patient with Camurati-Engelmann disease. A case report and literature review. ( 16457156 )
2005
Sources

Variations for Camurati-Engelmann Disease

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UniProtKB/Swiss-Prot genetic disease variations for Camurati-Engelmann Disease:

76
# Symbol AA change Variation ID SNP ID
1 TGFB1 p.Tyr81His VAR_017607
2 TGFB1 p.Arg218Cys VAR_017608
3 TGFB1 p.Arg218His VAR_017609
4 TGFB1 p.His222Asp VAR_017610
5 TGFB1 p.Cys225Arg VAR_017611
6 TGFB1 p.Cys223Gly VAR_067303
7 TGFB1 p.Cys223Arg VAR_067304

ClinVar genetic disease variations for Camurati-Engelmann Disease:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFB1 NM_000660.6(TGFB1): c.673T> C (p.Cys225Arg) single nucleotide variant Pathogenic rs104894719 GRCh37 Chromosome 19, 41848114: 41848114
2 TGFB1 NM_000660.6(TGFB1): c.673T> C (p.Cys225Arg) single nucleotide variant Pathogenic rs104894719 GRCh38 Chromosome 19, 41342209: 41342209
3 TGFB1 NM_000660.6(TGFB1): c.653G> A (p.Arg218His) single nucleotide variant Pathogenic rs104894720 GRCh37 Chromosome 19, 41848134: 41848134
4 TGFB1 NM_000660.6(TGFB1): c.653G> A (p.Arg218His) single nucleotide variant Pathogenic rs104894720 GRCh38 Chromosome 19, 41342229: 41342229
5 TGFB1 NM_000660.6(TGFB1): c.667T> G (p.Cys223Gly) single nucleotide variant Pathogenic rs104894722 GRCh37 Chromosome 19, 41848120: 41848120
6 TGFB1 NM_000660.6(TGFB1): c.667T> G (p.Cys223Gly) single nucleotide variant Pathogenic rs104894722 GRCh38 Chromosome 19, 41342215: 41342215
7 TGFB1 NM_000660.6(TGFB1): c.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic rs104894721 GRCh37 Chromosome 19, 41848135: 41848135
8 TGFB1 NM_000660.6(TGFB1): c.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic rs104894721 GRCh38 Chromosome 19, 41342230: 41342230
9 TGFB1 NM_000660.6(TGFB1): c.241T> C (p.Tyr81His) single nucleotide variant Pathogenic rs111033611 GRCh37 Chromosome 19, 41858709: 41858709
10 TGFB1 NM_000660.6(TGFB1): c.241T> C (p.Tyr81His) single nucleotide variant Pathogenic rs111033611 GRCh38 Chromosome 19, 41352804: 41352804
11 TGFB1 NM_000660.6(TGFB1): c.667T> C (p.Cys223Arg) single nucleotide variant Pathogenic rs104894722 GRCh37 Chromosome 19, 41848120: 41848120
12 TGFB1 NM_000660.6(TGFB1): c.667T> C (p.Cys223Arg) single nucleotide variant Pathogenic rs104894722 GRCh38 Chromosome 19, 41342215: 41342215
13 TGFB1 NM_000660.6(TGFB1): c.29C> T (p.Pro10Leu) single nucleotide variant Benign rs1800470 GRCh37 Chromosome 19, 41858921: 41858921
14 TGFB1 NM_000660.6(TGFB1): c.29C> T (p.Pro10Leu) single nucleotide variant Benign rs1800470 GRCh38 Chromosome 19, 41353016: 41353016
15 TGFB1 NM_000660.6(TGFB1): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs200482214 GRCh38 Chromosome 19, 41348345: 41348345
16 TGFB1 NM_000660.6(TGFB1): c.667T> A (p.Cys223Ser) single nucleotide variant Pathogenic rs104894722 GRCh37 Chromosome 19, 41848120: 41848120
17 TGFB1 NM_000660.6(TGFB1): c.505G> A (p.Glu169Lys) single nucleotide variant Pathogenic rs281865484 GRCh37 Chromosome 19, 41854211: 41854211
18 TGFB1 NM_000660.6(TGFB1): c.505G> A (p.Glu169Lys) single nucleotide variant Pathogenic rs281865484 GRCh38 Chromosome 19, 41348306: 41348306
19 TGFB1 NM_000660.6(TGFB1): c.664C> G (p.His222Asp) single nucleotide variant Pathogenic rs281865485 GRCh37 Chromosome 19, 41848123: 41848123
20 TGFB1 NM_000660.6(TGFB1): c.664C> G (p.His222Asp) single nucleotide variant Pathogenic rs281865485 GRCh38 Chromosome 19, 41342218: 41342218
21 TGFB1 NM_000660.6(TGFB1): c.667T> A (p.Cys223Ser) single nucleotide variant Pathogenic rs104894722 GRCh38 Chromosome 19, 41342215: 41342215
22 TGFB1 NM_000660.6(TGFB1): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs200482214 GRCh37 Chromosome 19, 41854250: 41854250
23 TGFB1 NM_000660.6(TGFB1): c.-171del deletion Benign rs281865481 GRCh37 Chromosome 19, 41859120: 41859120
24 TGFB1 NM_000660.6(TGFB1): c.-171del deletion Benign rs281865481 GRCh38 Chromosome 19, 41353215: 41353215
25 TGFB1 NM_000660.6(TGFB1): c.30_38dup (p.Leu13_Pro14insLeuLeuLeu) duplication Pathogenic rs281865483 GRCh37 Chromosome 19, 41858912: 41858920
26 TGFB1 NM_000660.6(TGFB1): c.30_38dup (p.Leu13_Pro14insLeuLeuLeu) duplication Pathogenic rs281865483 GRCh38 Chromosome 19, 41353007: 41353015
27 TGFB1 NM_000660.6(TGFB1): c.74G> C (p.Arg25Pro) single nucleotide variant Benign rs1800471 GRCh37 Chromosome 19, 41858876: 41858876
28 TGFB1 NM_000660.6(TGFB1): c.74G> C (p.Arg25Pro) single nucleotide variant Benign rs1800471 GRCh38 Chromosome 19, 41352971: 41352971
29 TGFB1 NM_000660.6(TGFB1): c.788C> T (p.Thr263Ile) single nucleotide variant Benign rs1800472 GRCh37 Chromosome 19, 41847860: 41847860
30 TGFB1 NM_000660.6(TGFB1): c.788C> T (p.Thr263Ile) single nucleotide variant Benign rs1800472 GRCh38 Chromosome 19, 41341955: 41341955
31 TGFB1 NM_000660.6(TGFB1): c.-1347T> C single nucleotide variant Benign rs1800469 GRCh37 Chromosome 19, 41860296: 41860296
32 TGFB1 NM_000660.6(TGFB1): c.-1347T> C single nucleotide variant Benign rs1800469 GRCh38 Chromosome 19, 41354391: 41354391
Sources

Expression for Camurati-Engelmann Disease

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Search GEO for disease gene expression data for Camurati-Engelmann Disease.
Sources

Pathways for Camurati-Engelmann Disease

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Pathways related to Camurati-Engelmann Disease according to KEGG:

38
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

Pathways related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Parathyroid hormone synthesis, secretion and action 38
11.39 BGLAP LRP5
2
Rheumatoid arthritis 38
11.28 ACP5 TGFB1
3
TGF-beta signaling pathway (KEGG) 38
11.23 TGFB1 TGIF1
4
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.02 LRP5 TGFB1
5
TGF-beta Receptor Signaling (WikiPathways) 1
10.72 TGFB1 TGIF1
6
Interleukin-11 Signaling Pathway 1
10.27 BGLAP TGFB1
Sources

GO Terms for Camurati-Engelmann Disease

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Cellular components related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi lumen GO:0005796 8.62 BGLAP TGFB1

Biological processes related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.5 BGLAP TGFB1 TGIF1
2 cellular calcium ion homeostasis GO:0006874 9.4 TGFB1 TMEM165
3 ossification GO:0001503 9.37 ACP5 BGLAP
4 bone morphogenesis GO:0060349 9.26 ACP5 LRP5
5 response to vitamin D GO:0033280 9.16 BGLAP TGFB1
6 osteoblast development GO:0002076 8.96 BGLAP LRP5
7 cellular response to growth factor stimulus GO:0071363 8.8 BGLAP TGFB1 TGIF1

Molecular functions related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 8.62 ALG2 TGFB1
Sources

Sources for Camurati-Engelmann Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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