MCID: CMR001
MIFTS: 62

Camurati-Engelmann Disease

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Camurati-Engelmann Disease

MalaCards integrated aliases for Camurati-Engelmann Disease:

Name: Camurati-Engelmann Disease 53 12 23 49 24 55 71 13 51 14
Progressive Diaphyseal Dysplasia 53 12 72 23 49 24 55 71 36
Diaphyseal Dysplasia 1, Progressive 53 49 71 69
Engelmann Disease 53 49 24 71
Ced 53 49 24 71
Pdd 53 49 24 71
Camurati-Engelmann Syndrome 24 41 69
Diaphyseal Dysplasia 12 24 28
Dpd1 53 49 71
Caend 53 71
Diaphyseal Dysplasia 1, Progressive; Dpd1 53
Progressive Diaphyseal Dysplasia; Pdd 53
Diaphyseal Osteosclerosis 24
Diaphyseal Hyperostosis 24
Engelman's Disease 12

Characteristics:

Orphanet epidemiological data:

55
camurati-engelmann disease
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

53
Miscellaneous:
waddling gait
onset in childhood
leg pain

Inheritance:
autosomal dominant


HPO:

31
camurati-engelmann disease:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


GeneReviews:

23
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:



Summaries for Camurati-Engelmann Disease

NIH Rare Diseases : 49 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 at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II.  Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.   Last updated: 3/15/2016

MalaCards based summary : Camurati-Engelmann Disease, also known as progressive diaphyseal dysplasia, is related to craniodiaphyseal dysplasia and camurati-engelmann disease, type 2, and has symptoms including ataxia, cachexia and muscle weakness. 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 Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Angiotensin II and Irbesartan have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and breast.

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

OMIM : 53 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 : 71 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 : 72 Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes... more...

GeneReviews: NBK1156

Related Diseases for Camurati-Engelmann Disease

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 86)
# Related Disease Score Top Affiliating Genes
1 craniodiaphyseal dysplasia 30.3 LRP5 TGFB1
2 camurati-engelmann disease, type 2 12.8
3 dappled diaphyseal dysplasia 12.1
4 caspase 8 deficiency 11.6
5 cranioectodermal dysplasia 1 11.6
6 pervasive developmental disorder 11.4
7 ghosal hematodiaphyseal dysplasia 11.3
8 ribbing disease 11.3
9 autism 11.3
10 asperger syndrome 11.1
11 atypical autism 11.0
12 autism x-linked 1 10.9
13 autism x-linked 2 10.9
14 autism x-linked 3 10.9
15 autism x-linked 4 10.9
16 autism x-linked 5 10.9
17 autism x-linked 6 10.9
18 autism 5 10.9
19 autism 8 10.9
20 autism 3 10.9
21 autism 6 10.9
22 autism 7 10.9
23 autism 11 10.9
24 autism 12 10.9
25 autism 13 10.9
26 autism 9 10.9
27 autism 10 10.9
28 autism 15 10.9
29 autism 16 10.9
30 autism 17 10.9
31 autism 18 10.9
32 cranioectodermal dysplasia 2 10.9
33 cranioectodermal dysplasia 3 10.9
34 cranioectodermal dysplasia 4 10.9
35 dysthymic disorder 10.7
36 episodic pain syndrome, familial, 1 10.5
37 hypogonadism 10.3
38 lattice corneal dystrophy 10.2 TGFB1 TGIF1
39 osteofibrous dysplasia 10.1 BGLAP TGFB1
40 body mass index quantitative trait locus 11 10.1
41 ataxia and polyneuropathy, adult-onset 10.1
42 body mass index quantitative trait locus 9 10.1
43 body mass index quantitative trait locus 8 10.1
44 aceruloplasminemia 10.1
45 angioid streaks 10.1
46 body mass index quantitative trait locus 4 10.1
47 body mass index quantitative trait locus 10 10.1
48 body mass index quantitative trait locus 7 10.1
49 body mass index quantitative trait locus 12 10.1
50 body mass index quantitative trait locus 14 10.1

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



Diseases related to Camurati-Engelmann Disease

Symptoms & Phenotypes for Camurati-Engelmann Disease

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Camurati-Engelmann Disease:

55 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
2 cachexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004326
3 muscle weakness 55 31 Frequent (79-30%) HP:0001324
4 waddling gait 55 31 frequent (33%) Frequent (79-30%) HP:0002515
5 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
6 frontal bossing 55 31 occasional (7.5%) Occasional (29-5%) HP:0002007
7 genu valgum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002857
8 neurological speech impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002167
9 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
10 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
11 hyperlordosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003307
12 facial palsy 55 31 occasional (7.5%) Occasional (29-5%) HP:0010628
13 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
14 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
15 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
16 carious teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000670
17 pes planus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001763
18 abnormal facial shape 55 31 occasional (7.5%) Occasional (29-5%) HP:0001999
19 abnormality of the ulna 55 31 hallmark (90%) Very frequent (99-80%) HP:0002997
20 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
21 feeding difficulties in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0008872
22 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
23 hypertrophic cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001639
24 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
25 skeletal muscle atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003202
26 sensory neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000763
27 delayed eruption of teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000684
28 coxa valga 55 31 occasional (7.5%) Occasional (29-5%) HP:0002673
29 limitation of joint mobility 55 31 frequent (33%) Frequent (79-30%) HP:0001376
30 anorexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002039
31 hypogonadism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000135
32 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
33 slender build 55 31 occasional (7.5%) Occasional (29-5%) HP:0001533
34 hyperostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100774
35 abnormality of pelvic girdle bone morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0002644
36 proptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000520
37 elevated aldolase level 55 31 hallmark (90%) Very frequent (99-80%) HP:0012544
38 aplasia/hypoplasia of the radius 55 31 hallmark (90%) Very frequent (99-80%) HP:0006501
39 cortical thickening of long bone diaphyses 55 31 hallmark (90%) Very frequent (99-80%) HP:0005791
40 abnormality of tibia morphology 55 31 frequent (33%) Frequent (79-30%) HP:0002992
41 abnormal subcutaneous fat tissue distribution 55 31 occasional (7.5%) Occasional (29-5%) HP:0007552
42 leukopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001882
43 urinary retention 55 31 occasional (7.5%) Occasional (29-5%) HP:0000016
44 elevated erythrocyte sedimentation rate 55 31 occasional (7.5%) Occasional (29-5%) HP:0003565
45 optic nerve compression 55 31 occasional (7.5%) Occasional (29-5%) HP:0007807
46 abnormality of the humerus 55 31 hallmark (90%) Very frequent (99-80%) HP:0003063
47 craniofacial osteosclerosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005464
48 metaphyseal dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0100255
49 headache 31 HP:0002315
50 diplopia 31 HP:0000651

UMLS symptoms related to Camurati-Engelmann Disease:


waddling gait, pain in lower limb, headache

Drugs & Therapeutics for Camurati-Engelmann Disease

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

(show top 50) (show all 388)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
2
Irbesartan Approved, Investigational Phase 4,Phase 2 138402-11-6 3749
3
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 22916-47-8 4189
4
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
5
Montelukast Approved Phase 4,Phase 3 158966-92-8 5281040
6
Desflurane Approved Phase 4 57041-67-5 42113
7
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
8
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
9
Remifentanil Approved Phase 4 132875-61-7 60815
10
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
11
Miltefosine Approved, Investigational Phase 4 58066-85-6 3600
12
Amlodipine Approved Phase 4 88150-42-9 2162
13
Losartan Approved Phase 4,Phase 3,Phase 2 114798-26-4 3961
14
Coal tar Approved Phase 4 8007-45-2
15
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
16
Eplerenone Approved Phase 4 107724-20-9 443872 150310
17
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
18
Telmisartan Approved, Investigational Phase 4,Phase 2 144701-48-4 65999
19
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
20
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
21
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
22
Ribavirin Approved Phase 4 36791-04-5 37542
23
Olmesartan Approved, Investigational Phase 4,Phase 3 144689-24-7, 144689-63-4 158781 130881
24
Pentoxifylline Approved, Investigational Phase 4,Phase 1,Phase 2 6493-05-6 4740
25
Ramipril Approved Phase 4 87333-19-5 5362129
26
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
27
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
28
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 68-26-8, 11103-57-4 445354
29
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3 67-97-0 10883523 5280795 6221
30
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2 50-14-6 5280793
31
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 1406-16-2
32
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
33
Lactitol Investigational Phase 4 585-86-4 3871
34
Candesartan Experimental Phase 4,Phase 1,Phase 2 139481-59-7 2541
35 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3,Phase 2,Phase 1
36 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1
37 Angiotensinogen Phase 4,Phase 3,Phase 2,Phase 1
38 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Anticholesteremic Agents Phase 4,Phase 2
40 Antimetabolites Phase 4,Phase 2,Phase 1
41 Atorvastatin Calcium Phase 4 134523-03-8
42 Calcium, Dietary Phase 4,Phase 3,Phase 1
43 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
44 Hypolipidemic Agents Phase 4,Phase 2
45 Lipid Regulating Agents Phase 4,Phase 2
46 Vaccines Phase 4,Phase 2,Phase 1
47 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
48 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
49 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
50 Retinol palmitate Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 255)

# 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 Effects of Short-term Atorvastatin Treatment on Vaccination Efficacy in Nonresponder Persons to Hepatitis B Vaccine Unknown status NCT01548326 Phase 4 Atorvastatin;placebo
4 The Effect of Vitamin A Supplementation on Cytokine Profile in Obesity Unknown status NCT01405352 Phase 4
5 The Effects of Vitamin D on Transforming Growth Factor-beta1 in Polycystic Ovary Syndrome Completed NCT02460380 Phase 4 Vitamin D3
6 Effect of Montelukast on Remodelling Markers in Asthmatic Children Completed NCT00875082 Phase 4 Montelukast;placebo
7 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
8 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
9 Treatment of Intrabony Periodontal Defects With Enamel Matrix Derivatives and Autogenous Bone Graft Completed NCT02218515 Phase 4
10 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
11 Optimizing Prograf® Therapy in Renal Transplant Patients Completed NCT00297765 Phase 4 Tacrolimus, Prograf®
12 C-Reactive Protein (CRP) in Obese Diabetic Women Completed NCT00262548 Phase 4 Rosuvastatin; improvement of lipid profile
13 The Effect of Various Types of the Renin-angiotensin-aldosterone System Blockade on Proteinuria Completed NCT01541267 Phase 4 aliskiren, eplerenon, telmisartan
14 The Effect of Aspirin Desensitization on Patients With Aspirin-exacerbated Respiratory Diseases Completed NCT01867281 Phase 4 aspirin
15 Lactobacillus Plantarum 3547 Effects Over Inflammatory and Immunologic Markers Completed NCT02622867 Phase 4
16 A Study Of Maraviroc In HIV Co-Infected Subjects With Hepatitis C And/Or Hepatitis B Completed NCT01327547 Phase 4 Maraviroc;Placebo
17 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
18 Ramipril Treatment of Claudication Recruiting NCT02842424 Phase 4 Ramipril
19 Renoprotection by Pentoxifylline and Angiotensin Receptor Blocker in Chronic Kidney Disease (CKD) Recruiting NCT01377285 Phase 4 ARB;Pentoxifylline;Placebo (for Pentoxifylline)
20 Clinical Study of Treating Type 2 Diabetic Nephropathy With Alfacalcidol and Irbesartan Recruiting NCT03147677 Phase 4 Alfacalcidol;Irbesartan
21 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
22 Study of Arimidex and Radiotherapy Sequencing Unknown status NCT01402193 Phase 3 Pre-radiotherapy commencement of Arimidex;Post radiotherapy commencement of Arimidex
23 GTN Therapy on Biomarkers of Immune Escape in Men With Biochemical Recurrence of Prostate Cancer After Primary Therapy Unknown status NCT01704274 Phase 3
24 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
25 Platelet Gel in Systemic Sclerosis Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
26 Dextromethorphan and Silymarin in Chronic Kidney Disease (CKD) Patients Unknown status NCT01091324 Phase 3 Dextromethorphan;Silymarin;sugar pill
27 Acetylsalicylic Acid and Colorectal Cancer Prevention: Exploring the Platelet Function of Its Mechanism of Action Unknown status NCT02125409 Phase 3 Acetylsalicylic acid
28 Juvista in Scar Revision Surgery of Disfiguring Scars Completed NCT00742443 Phase 3 Juvista (avotermin);Juvista (avotermin);Juvista (avotermin)
29 Comparison of Aliskiren vs Negative Controls on Aortic Stiffness in Patients With MFS Completed NCT01715207 Phase 3 Aliskiren;Atenolol
30 Evaluation of Tranilast to Treat Pterygium Before Excision Completed NCT01003613 Phase 3 Tranilast, and Tissucol
31 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
32 Effects and Safety of Budesonide Inhalation Suspension Via Transnasal Nebulization in Nasal Polyps Completed NCT02024659 Phase 2, Phase 3 budesonide
33 Pharmacological Modulations of Allergen-Specific Immunotherapy Completed NCT00504946 Phase 3 prednisone, lactose;prednisone, colecalciferol, lactose;lactose;montelukast sodium;lactose
34 A Randomized, Double Blind Study To Compare The Effects Of Olmesartan Medoxomil Versus Placebo In Patients With Established Atherosclerosis Completed NCT00382213 Phase 3 Olmesartan medoxomil;Placebo
35 Effect of Pirfenidone on Glomerular Filtration Rate and Albuminuria in Patients With Diabetic Nephropathy Recruiting NCT02689778 Phase 3 Pirfenidone;Placebo
36 Semi-individualised Chinese Medicine Treatment as an Adjuvant Management for Diabetic Nephropathy Recruiting NCT02488252 Phase 2, Phase 3 Semi-individualised Chinese Medicine treatment;Routine medical care (active comparator)
37 Evaluation Effect of Crocina on The Cellular Immune Responses in Osteoarthritis Patients Active, not recruiting NCT03375814 Phase 3 Crocin;Placebo Oral Tablet
38 Giant Cell Arteritis and Anakinra Trial Not yet recruiting NCT02902731 Phase 3 PLACEBO;ANAKINRA
39 TGC15302: A Study to Determine the Efficacy and Effectiveness of TG-C in Subjects With Kellgren and Lawrence Grade 2 or 3 OA of the Knee Not yet recruiting NCT03291470 Phase 3
40 A Study to Determine the Safety and Efficacy of TG-C in Subjects With Kellgren and Lawrence Grade 2 or 3 OA of the Knee Not yet recruiting NCT03203330 Phase 3
41 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome Withdrawn NCT01361087 Phase 3
42 PF-03446962 in Relapsed or Refractory Urothelial Cancer Unknown status NCT01620970 Phase 2 PF03446962
43 Safety Study of Aqueous Suppression After Ahmed Glaucoma Valve (AGV) Implantation Unknown status NCT01814514 Phase 2 Timolol-trusopt;placebo
44 The Effectiveness and Safety for Mesenchymal Stem Cell for Alcoholic Liver Cirrhosis Unknown status NCT01741090 Phase 2
45 Epigenetic Effects Elicited By Lactobacillus GG In Children With Cow's Milk Allergy Unknown status NCT02062476 Phase 2
46 Cannabis for Inflammatory Bowel Disease Unknown status NCT01040910 Phase 1, Phase 2 smoking of cannabis;smoking cigarettes with placebo
47 The Oxford Marfan Trial Unknown status NCT01949233 Phase 2 Irbesartan 150-300mg capsules daily for 6 months;Doxycycline 100-200mg capsules daily for 6 months;Doxycycline placebo capsules daily for 6 months;Irbesartan placebo capsules daily for 6 months
48 Safety, Tolerability, and Pharmacokinetics of CAT-192 (Human Anti-TGF-Beta1 Monoclonal Antibody) in Patients With Early Stage Diffuse Systemic Sclerosis Completed NCT00043706 Phase 1, Phase 2 Human Anti-Transforming Growth Factor Beta-1 Monoclonal Antibody
49 Phase II Study of Lucanix™ in Patients With Stages II-IV Non-Small Cell Lung Cancer Completed NCT01058785 Phase 2
50 Phase IIb Clinical Trial With TGF-β2 Antisense Compound AP 12009 for Recurrent or Refractory High-grade Glioma Completed NCT00431561 Phase 2 AP 12009 10 µM;AP 12009 80 µM;temozolomide or PCV

Search NIH Clinical Center for Camurati-Engelmann Disease

Cochrane evidence based reviews: camurati-engelmann syndrome

Genetic Tests for Camurati-Engelmann Disease

Genetic tests related to Camurati-Engelmann Disease:

# Genetic test Affiliating Genes
1 Diaphyseal Dysplasia 28 TGFB1

Anatomical Context for Camurati-Engelmann Disease

MalaCards organs/tissues related to Camurati-Engelmann Disease:

38
Bone, Kidney, Breast, Lung, Liver, Skin, T Cells

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

18
Long Bone

Publications for Camurati-Engelmann Disease

Articles related to Camurati-Engelmann Disease:

(show top 50) (show all 74)
# Title Authors Year
1
Failure of conventional treatment and losartan in Camurati-Engelmann disease: a case report. ( 29452301 )
2018
2
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
3
Angioid streaks in a case of Camurati-Engelmann disease. ( 28724827 )
2017
4
Pain improvement in Camurati-Engelmann disease after anti-TNFI+ therapy. ( 29184006 )
2017
5
Orthopedic Manifestations of Type I Camurati-Engelmann Disease. ( 28261436 )
2017
6
Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease. ( 28842728 )
2017
7
Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease. ( 27959412 )
2017
8
A Rare Sporadic Case of Camurati-Engelmann Disease With Jaw Involvement. ( 28499806 )
2017
9
Camurati-Engelmann disease: New clinical insights in an Egyptian case report. ( 28943142 )
2017
10
Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report. ( 28682867 )
2017
11
Imaging aspects of Camurati-Engelmann disease. ( 28001254 )
2016
12
Camurati-Engelmann disease. ( 26830437 )
2016
13
An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes. ( 27928112 )
2016
14
Reduced dentin matrix protein expression in Camurati-Engelmann disease transgenic mouse model. ( 26427011 )
2015
15
Bilateral papilloedema in Camurati-Engelmann disease. ( 26286906 )
2015
16
Elimination of pain and improvement of exercise capacity in camurati-engelmann disease with losartan. ( 25140400 )
2014
17
Camurati-engelmann disease association with hypogonadism and primary hypothyroidism. ( 25389497 )
2014
18
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation. ( 25099136 )
2014
19
Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance. ( 25145018 )
2014
20
Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. ( 23824952 )
2013
21
MeniA"re-like syndrome in Camurati-Engelmann disease. ( 23943989 )
2013
22
Anesthesia for a child with Camurati-Engelmann disease. ( 23577825 )
2013
23
Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report. ( 23368730 )
2013
24
Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred. ( 24154985 )
2013
25
Camurati-Engelmann disease--a rare cause of bone pain. ( 22372177 )
2012
26
Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease. ( 22044122 )
2012
27
Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFI^1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand. ( 21541994 )
2011
28
Papilledema with Camurati-Engelmann disease instigating loss of ganglion cell complex thickness. ( 21331705 )
2011
29
Skull base manifestations of Camurati-Engelmann disease. ( 20566907 )
2010
30
Unusual association between enchondroma and Camurati-Engelmann disease: a case report. ( 19943817 )
2010
31
The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis. ( 19654961 )
2009
32
Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. ( 19214502 )
2009
33
Camurati-Engelmann disease on a 99mTc-HMDP bone scan. ( 18690431 )
2008
34
A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease. ( 18095072 )
2008
35
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease. ( 17206397 )
2007
36
A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease. ( 17433803 )
2007
37
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. ( 15894597 )
2006
38
[A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease]. ( 17029195 )
2006
39
Camurati-Engelmann disease in conjunction with hypogonadism. ( 16638728 )
2005
40
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family. ( 15959620 )
2005
41
Juvenile vertebrobasilar ischaemic stroke in a patient with Camurati-Engelmann disease. ( 16127272 )
2005
42
Mesenteric fibromatosis in a patient with Camurati-Engelmann disease. A case report and literature review. ( 16457156 )
2005
43
Camurati-Engelmann disease--a case report and literature review. ( 15827032 )
2005
44
Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases. ( 15660289 )
2005
45
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. ( 15103729 )
2004
46
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. ( 15326622 )
2004
47
Internal auditory canal decompression and cochlear implantation in Camurati-Engelmann disease. ( 15577805 )
2004
48
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. ( 12843182 )
2003
49
Transforming growth factor-beta-1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. ( 12493741 )
2003
50
Camurati-Engelmann disease. Review of radioclinical features. ( 12846694 )
2003

Variations for Camurati-Engelmann Disease

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFB1 NM_000660.6(TGFB1): c.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic rs104894721 GRCh37 Chromosome 19, 41848135: 41848135
2 TGFB1 NM_000660.6(TGFB1): c.667T> C (p.Cys223Arg) single nucleotide variant Pathogenic rs104894722 GRCh37 Chromosome 19, 41848120: 41848120
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.667T> G (p.Cys223Gly) single nucleotide variant Pathogenic rs104894722 GRCh37 Chromosome 19, 41848120: 41848120
5 TGFB1 NM_000660.6(TGFB1): c.673T> C (p.Cys225Arg) single nucleotide variant Pathogenic rs104894719 GRCh37 Chromosome 19, 41848114: 41848114
6 TGFB1 NM_000660.6(TGFB1): c.29C> T (p.Pro10Leu) single nucleotide variant risk factor rs1800470 GRCh37 Chromosome 19, 41858921: 41858921
7 TGFB1 NM_000660.6(TGFB1): c.241T> C (p.Tyr81His) single nucleotide variant Pathogenic rs111033611 GRCh37 Chromosome 19, 41858709: 41858709

Expression for Camurati-Engelmann Disease

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

Pathways for Camurati-Engelmann Disease

Pathways related to Camurati-Engelmann Disease according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

GO Terms for Camurati-Engelmann Disease

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 9.54 BGLAP TGFB1 TGIF1
2 cellular calcium ion homeostasis GO:0006874 9.43 TGFB1 TMEM165
3 bone development GO:0060348 9.4 BGLAP LRP5
4 response to radiation GO:0009314 9.32 LRP5 TGFB1
5 bone morphogenesis GO:0060349 9.26 ACP5 LRP5
6 response to vitamin D GO:0033280 9.16 BGLAP TGFB1
7 osteoblast development GO:0002076 8.96 BGLAP LRP5
8 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 for Camurati-Engelmann Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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