CAEND
MCID: CMR001
MIFTS: 56

Camurati-Engelmann Disease (CAEND)

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

Aliases & Classifications for Camurati-Engelmann Disease

MalaCards integrated aliases for Camurati-Engelmann Disease:

Name: Camurati-Engelmann Disease 57 12 24 53 25 59 75 37 13 55 15
Progressive Diaphyseal Dysplasia 57 12 76 24 53 25 59 75
Diaphyseal Dysplasia 1, Progressive 57 53 75 44 73
Diaphyseal Dysplasia 12 25 29 6
Engelmann Disease 57 53 25 75
Ced 57 53 25 75
Pdd 57 53 25 75
Camurati-Engelmann Syndrome 25 44 73
Dpd1 57 53 75
Caend 57 75
Diaphyseal Dysplasia 1, Progressive; Dpd1 57
Progressive Diaphyseal Dysplasia; Pdd 57
Camurati-Engelmann Disease ) 40
Camuratiengelmann Disease 76
Diaphyseal Osteosclerosis 25
Diaphyseal Hyperostosis 25
Engelman's Disease 12

Characteristics:

Orphanet epidemiological data:

59
camurati-engelmann disease
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

57
Miscellaneous:
waddling gait
onset in childhood
leg pain

Inheritance:
autosomal dominant


HPO:

32
camurati-engelmann disease:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 53 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 camurati-engelmann disease, type 2, 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 Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer. The drugs Irbesartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skeletal muscle, and related phenotypes are frontal bossing and genu valgum

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

OMIM : 57 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 : 75 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 : 76 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 85)
# Related Disease Score Top Affiliating Genes
1 craniodiaphyseal dysplasia 30.6 TGFB1 LRP5
2 camurati-engelmann disease, type 2 13.0
3 cranioectodermal dysplasia 1 11.9
4 caspase 8 deficiency 11.8
5 atypical autism 11.6
6 pervasive developmental disorder 11.6
7 ribbing disease 11.6
8 ghosal hematodiaphyseal dysplasia 11.5
9 autism 11.5
10 asperger syndrome 11.3
11 autism x-linked 1 11.1
12 autism x-linked 2 11.1
13 autism x-linked 3 11.1
14 autism x-linked 4 11.1
15 autism x-linked 5 11.1
16 autism x-linked 6 11.1
17 autism 5 11.1
18 autism 8 11.1
19 autism 3 11.1
20 autism 6 11.1
21 autism 7 11.1
22 autism 11 11.1
23 autism 12 11.1
24 autism 13 11.1
25 autism 9 11.1
26 autism 10 11.1
27 autism 15 11.1
28 autism 16 11.1
29 autism 17 11.1
30 autism 18 11.1
31 cranioectodermal dysplasia 2 11.0
32 cranioectodermal dysplasia 3 11.0
33 cranioectodermal dysplasia 4 11.0
34 dysthymic disorder 10.9
35 hypogonadism 10.5
36 aceruloplasminemia 10.3
37 angioid streaks 10.3
38 otosclerosis 10.3
39 amenorrhea 10.3
40 hypothyroidism 10.3
41 papilledema 10.3
42 enchondroma 10.3
43 fibromatosis 10.3
44 dementia 10.3
45 bone fracture 10.1 TGFB1 BGLAP
46 lattice corneal dystrophy 10.1 TGIF1 TGFB1
47 facial paralysis 10.1 TGFB1 LRP5
48 attention deficit-hyperactivity disorder 10.1
49 alacrima, achalasia, and mental retardation syndrome 10.1
50 autosomal recessive cutis laxa type i 10.1 TGFBR1 TGFB1

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:

57
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:

59 32 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
2 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
3 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
4 muscle weakness 59 32 Frequent (79-30%) HP:0001324
5 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
8 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
9 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
10 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
11 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
12 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
13 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
14 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
15 abnormal facial shape 59 32 occasional (7.5%) Occasional (29-5%) HP:0001999
16 abnormality of the ulna 59 32 hallmark (90%) Very frequent (99-80%) HP:0002997
17 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
18 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
19 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
20 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
21 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
22 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
23 sensory neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000763
24 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
25 coxa valga 59 32 occasional (7.5%) Occasional (29-5%) HP:0002673
26 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
27 waddling gait 59 32 frequent (33%) Frequent (79-30%) HP:0002515
28 anorexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002039
29 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
30 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
31 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
32 slender build 59 32 occasional (7.5%) Occasional (29-5%) HP:0001533
33 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
34 hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100774
35 abnormality of pelvic girdle bone morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002644
36 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
37 elevated aldolase level 59 32 hallmark (90%) Very frequent (99-80%) HP:0012544
38 aplasia/hypoplasia of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0006501
39 cortical thickening of long bone diaphyses 59 32 hallmark (90%) Very frequent (99-80%) HP:0005791
40 abnormality of tibia morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002992
41 abnormal subcutaneous fat tissue distribution 59 32 occasional (7.5%) Occasional (29-5%) HP:0007552
42 leukopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001882
43 urinary retention 59 32 occasional (7.5%) Occasional (29-5%) HP:0000016
44 elevated erythrocyte sedimentation rate 59 32 occasional (7.5%) Occasional (29-5%) HP:0003565
45 optic nerve compression 59 32 occasional (7.5%) Occasional (29-5%) HP:0007807
46 abnormality of the humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003063
47 craniofacial osteosclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005464
48 metaphyseal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100255
49 diplopia 32 HP:0000651
50 mandibular prognathia 32 HP:0000303

UMLS symptoms related to Camurati-Engelmann Disease:


waddling gait, headache, pain in lower limb

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

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 TGFB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.72 TGFBR1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.72 BGLAP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.72 TGFB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.72 BGLAP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.72 BGLAP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.72 TGFB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.72 TGFB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.72 BGLAP TGFBR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.72 BGLAP
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.72 BGLAP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.72 BGLAP
13 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 BGLAP TGFB1 TGFBR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.72 BGLAP TGFB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.72 TGFB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.72 TGFB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.72 TGFBR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.72 TGFBR1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.72 TGFB1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 TGFBR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.72 TGFBR1

Drugs & Therapeutics for Camurati-Engelmann Disease

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

(show top 50) (show all 483)
# 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 65143
3
Pentoxifylline Approved, Investigational Phase 4,Phase 1,Phase 2 6493-05-6 4740
4
Telmisartan Approved, Investigational Phase 4,Phase 2,Not Applicable 144701-48-4 65999
5
Candesartan cilexetil Approved Phase 4,Phase 1,Phase 2,Not Applicable 145040-37-5 2540
6
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
7
Olmesartan Approved, Investigational Phase 4,Phase 3 144689-63-4, 144689-24-7 158781 130881
8
Losartan Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 114798-26-4 3961
9
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
10
Everolimus Approved Phase 4,Phase 1,Phase 2,Not Applicable 159351-69-6 6442177
11
Sirolimus Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 53123-88-9 46835353 6436030 5284616
12
Prednisone Approved, Vet_approved Phase 4,Phase 3 53-03-2 5865
13
Mycophenolic acid Approved Phase 4,Not Applicable 24280-93-1 446541
14
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 22916-47-8 4189
15
Montelukast Approved Phase 4,Phase 3 158966-92-8 5281040
16
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
17
Thiopental Approved, Vet_approved Phase 4,Not Applicable 76-75-5 3000715
18
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
19
Atracurium Approved, Experimental, Investigational Phase 4,Not Applicable 64228-79-1 47319
20
Aspirin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-78-2 2244
21
Benzocaine Approved, Investigational Phase 4,Not Applicable 94-09-7, 1994-09-7 2337
22 tannic acid Approved Phase 4,Not Applicable
23
Minoxidil Approved, Investigational Phase 4 38304-91-5 4201
24
Clobetasol Approved, Experimental, Investigational Phase 4,Not Applicable 25122-46-7, 25122-41-2 5311051 32798
25
Miltefosine Approved, Investigational Phase 4 58066-85-6 3600
26
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
27
Eplerenone Approved Phase 4 107724-20-9 443872 150310
28
Ramipril Approved Phase 4 87333-19-5 5362129
29
Remifentanil Approved Phase 4,Not Applicable 132875-61-7 60815
30
Desflurane Approved Phase 4 57041-67-5 42113
31
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
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
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
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
45
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 11103-57-4, 68-26-8 445354
46
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2,Not Applicable 50-14-6 5280793
47
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 67-97-0 5280795 6221
48
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 1406-16-2
49
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
50
Candesartan Experimental Phase 4,Phase 1,Phase 2,Not Applicable 139481-59-7 2541

Interventional clinical trials:

(show top 50) (show all 398)
# 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 Anti-proteinuric Effect of Calcitriol in Non-diabetic Kidney Disease Patients Unknown status NCT01512862 Phase 4 Calcitriol;Placebo
9 The Effect of Vitamin A Supplementation on Cytokine Profile in Obesity Unknown status NCT01405352 Phase 4
10 The Effects of Vitamin D on Angiogenic Factors in Women With Polycystic Ovary Syndrome Completed NCT02460380 Phase 4 Vitamin D3
11 Effect of Montelukast on Remodelling Markers in Asthmatic Children Completed NCT00875082 Phase 4 Montelukast;placebo
12 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
13 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
14 The Effect of Various Types of the Renin-angiotensin-aldosterone System Blockade on Proteinuria Completed NCT01541267 Phase 4 aliskiren, eplerenon, telmisartan
15 Ramipril Treatment of Claudication Recruiting NCT02842424 Phase 4 Ramipril
16 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
17 Treatment of Intrabony Periodontal Defects With Enamel Matrix Derivatives and Autogenous Bone Graft Completed NCT02218515 Phase 4
18 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
19 Optimizing Prograf® Therapy in Renal Transplant Patients Completed NCT00297765 Phase 4 Tacrolimus, Prograf®
20 The Effect of Proprioception of Platelet Rich Plasma for Patients With Ankle Sprain Recruiting NCT03808454 Phase 4 PRP
21 C-Reactive Protein (CRP) in Obese Diabetic Women Completed NCT00262548 Phase 4 Rosuvastatin; improvement of lipid profile
22 The Effect of Aspirin Desensitization on Patients With Aspirin-exacerbated Respiratory Diseases Completed NCT01867281 Phase 4 aspirin
23 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
24 Influence of Probiotic VSL#3 Administration on Metabolic and Immunological Profile of the Milk of Breastfeeding Mothers Completed NCT01367470 Phase 4
25 The Effect of Norethisterone Enanthate on Recurrent Bacterial Vaginosis Recruiting NCT02905890 Phase 4 Norethisterone enantate
26 Clinical Study of Treating Type 2 Diabetic Nephropathy With Alfacalcidol and Irbesartan Recruiting NCT03147677 Phase 4 Alfacalcidol;Irbesartan
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 The Thoracic Peri-Operative Integrative Surgical Care Evaluation (POISE) Trial- Stage I Not yet recruiting NCT02845479 Phase 4
39 Study of Arimidex and Radiotherapy Sequencing Unknown status NCT01402193 Phase 3 Pre-radiotherapy commencement of Arimidex;Post radiotherapy commencement of Arimidex
40 GTN Therapy on Biomarkers of Immune Escape in Men With Biochemical Recurrence of Prostate Cancer After Primary Therapy Unknown status NCT01704274 Phase 3
41 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
42 Platelet Gel in Systemic Sclerosis Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
43 Dextromethorphan and Silymarin in Chronic Kidney Disease (CKD) Patients Unknown status NCT01091324 Phase 3 Dextromethorphan;Silymarin;sugar pill
44 Tonsillar Cytokine Expression After Allergen and/or Virus Intervention Unknown status NCT01924208 Phase 3
45 25-Gauge Vitrectomy With Ranibizumab or Triamcinolone Acetonide on Proliferative Diabetic Retinopathy in China Unknown status NCT02328118 Phase 2, Phase 3 Ranibizumab;Triamcinolone Acetonide
46 Acetylsalicylic Acid and Colorectal Cancer Prevention: Exploring the Platelet Function of Its Mechanism of Action Unknown status NCT02125409 Phase 3 Acetylsalicylic acid
47 Effects of Short-chain Fatty Acids on Inflammatory and Metabolic Parameters in Maintenance Hemodialysis Unknown status NCT02976688 Phase 2, Phase 3
48 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome Withdrawn NCT01361087 Phase 3
49 Effects and Safety of Budesonide Inhalation Suspension Via Transnasal Nebulization in Nasal Polyps Completed NCT02024659 Phase 2, Phase 3 budesonide
50 Juvista in Scar Revision Surgery of Disfiguring Scars Completed NCT00742443 Phase 3 Juvista (avotermin);Juvista (avotermin);Juvista (avotermin)

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 29 TGFB1

Anatomical Context for Camurati-Engelmann Disease

MalaCards organs/tissues related to Camurati-Engelmann Disease:

41
Bone, Bone Marrow, Skeletal Muscle, Thyroid

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

19
Long Bone

Publications for Camurati-Engelmann Disease

Articles related to Camurati-Engelmann Disease:

(show top 50) (show all 117)
# Title Authors Year
1
Regarding Camurati-Engelmann Disease: In Reply. ( 29564057 )
2018
2
Regarding Camurati-Engelmann Disease: To the Editor. ( 29564056 )
2018
3
Total Hip Arthroplasty in a Patient with Camurati-Engelmann Disease: A Case Report. ( 29952779 )
2018
4
Failure of conventional treatment and losartan in Camurati-Engelmann disease: a case report. ( 29452301 )
2018
5
Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series. ( 29620655 )
2018
6
Camurati-Engelmann disease: a case report from sub-Saharan Africa. ( 30034812 )
2018
7
Bone-targeted delivery of TGF-β type 1 receptor inhibitor rescues uncoupled bone remodeling in Camurati-Engelmann disease. ( 30091466 )
2018
8
Pain improvement in Camurati-Engelmann disease after anti-TNFI+ therapy. ( 29184006 )
2017
9
Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease. ( 28842728 )
2017
10
Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report. ( 28682867 )
2017
11
A Rare Sporadic Case of Camurati-Engelmann Disease With Jaw Involvement. ( 28499806 )
2017
12
Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease. ( 27959412 )
2017
13
Orthopedic Manifestations of Type I Camurati-Engelmann Disease. ( 28261436 )
2017
14
Camurati-Engelmann disease: New clinical insights in an Egyptian case report. ( 28943142 )
2017
15
Angioid streaks in a case of Camurati-Engelmann disease. ( 28724827 )
2017
16
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
17
Imaging aspects of Camurati-Engelmann disease. ( 28001254 )
2016
18
An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes. ( 27928112 )
2016
19
Camurati-Engelmann disease. ( 26830437 )
2016
20
Bilateral papilloedema in Camurati-Engelmann disease. ( 26286906 )
2015
21
Reduced dentin matrix protein expression in Camurati-Engelmann disease transgenic mouse model. ( 26427011 )
2015
22
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation. ( 25099136 )
2014
23
Elimination of pain and improvement of exercise capacity in camurati-engelmann disease with losartan. ( 25140400 )
2014
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
MeniA"re-like syndrome in Camurati-Engelmann disease. ( 23943989 )
2013
27
Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. ( 23824952 )
2013
28
Anesthesia for a child with Camurati-Engelmann disease. ( 23577825 )
2013
29
[Camurati-Engelmann disease: a case report]. ( 24141349 )
2013
30
Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred. ( 24154985 )
2013
31
Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report. ( 23368730 )
2013
32
Camurati-Engelmann disease--a rare cause of bone pain. ( 22372177 )
2012
33
Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease. ( 22044122 )
2012
34
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
35
Papilledema with Camurati-Engelmann disease instigating loss of ganglion cell complex thickness. ( 21331705 )
2011
36
Unusual association between enchondroma and Camurati-Engelmann disease: a case report. ( 19943817 )
2010
37
Skull base manifestations of Camurati-Engelmann disease. ( 20566907 )
2010
38
Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. ( 19214502 )
2009
39
The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis. ( 19654961 )
2009
40
A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease. ( 18095072 )
2008
41
Camurati-Engelmann disease on a 99mTc-HMDP bone scan. ( 18690431 )
2008
42
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease. ( 17206397 )
2007
43
A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease. ( 17433803 )
2007
44
[A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease]. ( 17029195 )
2006
45
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. ( 15894597 )
2006
46
Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases. ( 15660289 )
2005
47
Camurati-Engelmann disease--a case report and literature review. ( 15827032 )
2005
48
Juvenile vertebrobasilar ischaemic stroke in a patient with Camurati-Engelmann disease. ( 16127272 )
2005
49
Mesenteric fibromatosis in a patient with Camurati-Engelmann disease. A case report and literature review. ( 16457156 )
2005
50
Camurati-Engelmann disease in conjunction with hypogonadism. ( 16638728 )
2005

Variations for Camurati-Engelmann Disease

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

75
# 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.-171delC deletion Benign rs281865481 GRCh37 Chromosome 19, 41859120: 41859120
2 TGFB1 NM_000660.6(TGFB1): c.-171delC deletion Benign rs281865481 GRCh38 Chromosome 19, 41353215: 41353215
3 TGFB1 NM_000660.6(TGFB1): c.30_38dupGCTGCTGCT (p.Leu13_Pro14insLeuLeuLeu) duplication Pathogenic rs281865483 GRCh37 Chromosome 19, 41858912: 41858920
4 TGFB1 NM_000660.6(TGFB1): c.30_38dupGCTGCTGCT (p.Leu13_Pro14insLeuLeuLeu) duplication Pathogenic rs281865483 GRCh38 Chromosome 19, 41353007: 41353015
5 TGFB1 NM_000660.6(TGFB1): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs200482214 GRCh37 Chromosome 19, 41854250: 41854250
6 TGFB1 NM_000660.6(TGFB1): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs200482214 GRCh38 Chromosome 19, 41348345: 41348345
7 TGFB1 NM_000660.6(TGFB1): c.505G> A (p.Glu169Lys) single nucleotide variant Pathogenic rs281865484 GRCh37 Chromosome 19, 41854211: 41854211
8 TGFB1 NM_000660.6(TGFB1): c.505G> A (p.Glu169Lys) single nucleotide variant Pathogenic rs281865484 GRCh38 Chromosome 19, 41348306: 41348306
9 TGFB1 NM_000660.6(TGFB1): c.664C> G (p.His222Asp) single nucleotide variant Pathogenic rs281865485 GRCh37 Chromosome 19, 41848123: 41848123
10 TGFB1 NM_000660.6(TGFB1): c.664C> G (p.His222Asp) single nucleotide variant Pathogenic rs281865485 GRCh38 Chromosome 19, 41342218: 41342218
11 TGFB1 NM_000660.6(TGFB1): c.667T> A (p.Cys223Ser) single nucleotide variant Pathogenic rs104894722 GRCh37 Chromosome 19, 41848120: 41848120
12 TGFB1 NM_000660.6(TGFB1): c.667T> A (p.Cys223Ser) single nucleotide variant Pathogenic rs104894722 GRCh38 Chromosome 19, 41342215: 41342215
13 TGFB1 NM_000660.6(TGFB1): c.74G> C (p.Arg25Pro) single nucleotide variant Benign rs1800471 GRCh37 Chromosome 19, 41858876: 41858876
14 TGFB1 NM_000660.6(TGFB1): c.74G> C (p.Arg25Pro) single nucleotide variant Benign rs1800471 GRCh38 Chromosome 19, 41352971: 41352971
15 TGFB1 NM_000660.6(TGFB1): c.788C> T (p.Thr263Ile) single nucleotide variant Benign rs1800472 GRCh37 Chromosome 19, 41847860: 41847860
16 TGFB1 NM_000660.6(TGFB1): c.788C> T (p.Thr263Ile) single nucleotide variant Benign rs1800472 GRCh38 Chromosome 19, 41341955: 41341955
17 TGFB1 NM_000660.6(TGFB1): c.-1347T> C single nucleotide variant Benign rs1800469 GRCh37 Chromosome 19, 41860296: 41860296
18 TGFB1 NM_000660.6(TGFB1): c.-1347T> C single nucleotide variant Benign rs1800469 GRCh38 Chromosome 19, 41354391: 41354391
19 TGFB1 NM_000660.6(TGFB1): c.29C> T (p.Pro10Leu) single nucleotide variant Benign rs1800470 GRCh38 Chromosome 19, 41353016: 41353016
20 TGFB1 NM_000660.6(TGFB1): c.29C> T (p.Pro10Leu) single nucleotide variant Benign rs1800470 GRCh37 Chromosome 19, 41858921: 41858921
21 TGFB1 NM_000660.6(TGFB1): c.667T> C (p.Cys223Arg) single nucleotide variant Pathogenic rs104894722 GRCh38 Chromosome 19, 41342215: 41342215
22 TGFB1 NM_000660.6(TGFB1): c.667T> C (p.Cys223Arg) single nucleotide variant Pathogenic rs104894722 GRCh37 Chromosome 19, 41848120: 41848120
23 TGFB1 NM_000660.6(TGFB1): c.241T> C (p.Tyr81His) single nucleotide variant Pathogenic rs111033611 GRCh38 Chromosome 19, 41352804: 41352804
24 TGFB1 NM_000660.6(TGFB1): c.241T> C (p.Tyr81His) single nucleotide variant Pathogenic rs111033611 GRCh37 Chromosome 19, 41858709: 41858709
25 TGFB1 NM_000660.6(TGFB1): c.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic rs104894721 GRCh38 Chromosome 19, 41342230: 41342230
26 TGFB1 NM_000660.6(TGFB1): c.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic rs104894721 GRCh37 Chromosome 19, 41848135: 41848135
27 TGFB1 NM_000660.6(TGFB1): c.667T> G (p.Cys223Gly) single nucleotide variant Pathogenic rs104894722 GRCh38 Chromosome 19, 41342215: 41342215
28 TGFB1 NM_000660.6(TGFB1): c.667T> G (p.Cys223Gly) single nucleotide variant Pathogenic rs104894722 GRCh37 Chromosome 19, 41848120: 41848120
29 TGFB1 NM_000660.6(TGFB1): c.653G> A (p.Arg218His) single nucleotide variant Pathogenic rs104894720 GRCh38 Chromosome 19, 41342229: 41342229
30 TGFB1 NM_000660.6(TGFB1): c.653G> A (p.Arg218His) single nucleotide variant Pathogenic rs104894720 GRCh37 Chromosome 19, 41848134: 41848134
31 TGFB1 NM_000660.6(TGFB1): c.673T> C (p.Cys225Arg) single nucleotide variant Pathogenic rs104894719 GRCh38 Chromosome 19, 41342209: 41342209
32 TGFB1 NM_000660.6(TGFB1): c.673T> C (p.Cys225Arg) single nucleotide variant Pathogenic rs104894719 GRCh37 Chromosome 19, 41848114: 41848114

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:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.96 TGFB1 TGFBR1 TGIF1
2 11.89 LRP5 TGFB1 TGFBR1
3 11.76 LRP5 TGFB1 TGFBR1
4
Show member pathways
11.7 LRP5 TGFB1 TGFBR1
5 11.69 TGFB1 TGFBR1 TGIF1
6 11.56 TGFB1 TGFBR1 TGIF1
7 11.47 LRP5 TGFB1
8 11.46 TGFB1 TGFBR1
9
Show member pathways
11.44 TGFB1 TGFBR1
10 11.44 ACP5 TGFB1 TGFBR1
11 11.31 TGFB1 TGFBR1 TGIF1
12 11.29 TGFB1 TGFBR1
13 11.28 TGFB1 TGFBR1
14 11.26 TGFB1 TGFBR1
15 11.21 TGFB1 TGFBR1
16 11.2 BGLAP TGFBR1
17 11.18 BGLAP TGFB1
18 11.06 TGFB1 TGFBR1 TGIF1
19 11 TGFB1 TGFBR1
20
Show member pathways
10.94 TGFB1 TGFBR1
21 10.91 TGFB1 TGFBR1
22 10.56 TGFB1 TGFBR1 TGIF1

GO Terms for Camurati-Engelmann Disease

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.69 BGLAP TGFB1 TGIF1
2 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.54 TGFB1 TGFBR1
3 cellular response to transforming growth factor beta stimulus GO:0071560 9.52 TGFB1 TGFBR1
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.49 TGFB1 TGFBR1
5 positive regulation of epithelial to mesenchymal transition GO:0010718 9.48 TGFB1 TGFBR1
6 epithelial to mesenchymal transition GO:0001837 9.46 TGFB1 TGFBR1
7 bone morphogenesis GO:0060349 9.43 ACP5 LRP5
8 response to vitamin D GO:0033280 9.4 BGLAP TGFB1
9 osteoblast development GO:0002076 9.37 BGLAP LRP5
10 pathway-restricted SMAD protein phosphorylation GO:0060389 9.32 TGFB1 TGFBR1
11 positive regulation of SMAD protein signal transduction GO:0060391 9.26 TGFB1 TGFBR1
12 response to cholesterol GO:0070723 9.16 TGFB1 TGFBR1
13 germ cell migration GO:0008354 8.96 TGFB1 TGFBR1
14 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 type II transforming growth factor beta receptor binding GO:0005114 8.62 TGFB1 TGFBR1

Sources for Camurati-Engelmann Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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