CAEND
MCID: CMR001
MIFTS: 58

Camurati-Engelmann Disease (CAEND) malady

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

Aliases & Classifications for Camurati-Engelmann Disease

Aliases & Descriptions for Camurati-Engelmann Disease:

Name: Camurati-Engelmann Disease 54 12 23 50 24 25 56 66 13 52 14
Progressive Diaphyseal Dysplasia 12 23 50 24 56 66
Diaphyseal Dysplasia 1, Progressive 50 66 69
Camurati-Engelmann Syndrome 25 42 69
Diaphyseal Dysplasia 12 25 29
Engelmann Disease 50 24 66
Ced 50 25 66
Pdd 50 25 66
Dpd1 50 66
Diaphyseal Hyperostosis 25
Engelmann's Disease 25
Engelman's Disease 12
Caend 66

Characteristics:

Orphanet epidemiological data:

56
camurati-engelmann disease
Inheritance: Autosomal dominant; Age of onset: All ages;

GeneReviews:

23
camurati-engelmann disease:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


GeneReviews:

23
Penetrance Some obligate heterozygotes with an identified tgfb1 variant have had normal radiographs [wallace et al 2004]; an exact penetrance figure is not known...

Classifications:



External Ids:

OMIM 54 131300
Disease Ontology 12 DOID:4997
ICD10 33 Q78.3
MeSH 42 D003966
NCIt 47 C84610
Orphanet 56 ORPHA1328
MESH via Orphanet 43 D003966
UMLS via Orphanet 70 C0011989
ICD10 via Orphanet 34 Q78.3
UMLS 69 C0011989

Summaries for Camurati-Engelmann Disease

NIH Rare Diseases : 50 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 camurati engelmann disease, type 2 and dappled diaphyseal dysplasia, 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 Rheumatoid arthritis and TGF-beta signaling pathway (KEGG). The drugs Irbesartan and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow.

UniProtKB/Swiss-Prot : 66 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.

Genetics Home Reference : 25 Camurati-Engelmann disease is a 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. An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. The added pressure that thickened bones put on the muscular and skeletal systems can cause abnormal curvature of the spine (scoliosis), joint deformities (contractures), knock knees, and flat feet (pes planus). Other features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, and delayed puberty.

OMIM : 54 Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is... (131300) more...

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.

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 66)
id Related Disease Score Top Affiliating Genes
1 camurati engelmann disease, type 2 12.5
2 dappled diaphyseal dysplasia 11.9
3 atypical autism 11.5
4 cranioectodermal dysplasia 1 11.5
5 pervasive developmental disorder 11.4
6 pervasive developmental disorder not otherwise specified 11.4
7 ghosal hematodiaphyseal syndrome 11.2
8 asperger syndrome 11.0
9 autoimmune lymphoproliferative syndrome, type iib 11.0
10 autism susceptibility, x-linked 1 10.8
11 autism susceptibility, x-linked 3 10.8
12 autism x-linked 5 10.8
13 epsilon-trimethyllysine hydroxylase deficiency 10.8
14 autism susceptibility 16 10.8
15 autism 9 10.8
16 autism susceptibility 15 10.8
17 autism 10 10.8
18 autism susceptibility 17 10.8
19 autism 18 10.8
20 autism susceptibility, x-linked 2 10.8
21 autism x-linked 4 10.8
22 autism spectrum disorder 10.8
23 cranioectodermal dysplasia 2 10.8
24 cranioectodermal dysplasia 4 10.8
25 cranioectodermal dysplasia 3 10.8
26 dysthymic disorder 10.7
27 hypogonadism 10.2
28 cervix uteri carcinoma in situ 10.2 TGFB1 TGIF1
29 atrophic vulva 10.2 TGFB1 TGIF1
30 fibrogenesis imperfecta ossium 10.1 LRP5 TGFB1
31 ovarian insufficiency due to fsh resistance 10.1 BGLAP TGFB1
32 maroteaux stanescu cousin syndrome 10.1 ACP5 BGLAP
33 benign paroxysmal positional nystagmus 10.1 LRP5 TGFB1
34 acrorenal syndrome 10.1 ACP5 BGLAP
35 endemic typhus 10.1 TGFB1 TGIF1
36 phacolytic glaucoma 10.1 BGLAP LRP5
37 pes anserinus tendinitis or bursitis 10.1 ACP5 BGLAP
38 skeletal dysplasias 10.1
39 skeletal dysplasia 10.1
40 hypothyroidism 10.1
41 obesity 10.1
42 papilledema 10.1
43 cerebellar ataxia 10.1
44 conjunctivitis 10.1
45 neuropathy 10.1
46 enchondroma 10.1
47 fibromatosis 10.1
48 craniodiaphyseal dysplasia 10.1
49 otosclerosis 10.1
50 ataxia 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 by clinical synopsis from OMIM:

131300

Clinical features from OMIM:

131300

Human phenotypes related to Camurati-Engelmann Disease:

56 32 (show top 50) (show all 64)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 cachexia 56 32 Very frequent (99-80%) HP:0004326
3 muscle weakness 56 32 Frequent (79-30%) HP:0001324
4 waddling gait 56 32 Frequent (79-30%) HP:0002515
5 bone pain 56 32 Very frequent (99-80%) HP:0002653
6 frontal bossing 56 32 Occasional (29-5%) HP:0002007
7 genu valgum 56 32 Occasional (29-5%) HP:0002857
8 neurological speech impairment 56 32 Occasional (29-5%) HP:0002167
9 scoliosis 56 32 Occasional (29-5%) HP:0002650
10 kyphosis 56 32 Occasional (29-5%) HP:0002808
11 hyperlordosis 56 32 Occasional (29-5%) HP:0003307
12 facial palsy 56 32 Occasional (29-5%) HP:0010628
13 hearing impairment 56 32 Occasional (29-5%) HP:0000365
14 splenomegaly 56 32 Occasional (29-5%) HP:0001744
15 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
16 carious teeth 56 32 Occasional (29-5%) HP:0000670
17 pes planus 56 32 Occasional (29-5%) HP:0001763
18 abnormal facial shape 56 32 Occasional (29-5%) HP:0001999
19 abnormality of the ulna 56 32 Very frequent (99-80%) HP:0002997
20 optic atrophy 56 32 Occasional (29-5%) HP:0000648
21 feeding difficulties in infancy 56 32 Occasional (29-5%) HP:0008872
22 delayed puberty 56 32 Occasional (29-5%) HP:0000823
23 hypertrophic cardiomyopathy 56 32 Occasional (29-5%) HP:0001639
24 anemia 56 32 Occasional (29-5%) HP:0001903
25 skeletal muscle atrophy 56 32 Frequent (79-30%) HP:0003202
26 sensory neuropathy 56 32 Occasional (29-5%) HP:0000763
27 delayed eruption of teeth 56 32 Occasional (29-5%) HP:0000684
28 coxa valga 56 32 Occasional (29-5%) HP:0002673
29 limitation of joint mobility 56 32 Frequent (79-30%) HP:0001376
30 anorexia 56 32 Occasional (29-5%) HP:0002039
31 hypogonadism 56 32 Occasional (29-5%) HP:0000135
32 glaucoma 56 32 Occasional (29-5%) HP:0000501
33 slender build 56 32 Occasional (29-5%) HP:0001533
34 hyperostosis 56 32 Very frequent (99-80%) HP:0100774
35 abnormality of pelvic girdle bone morphology 56 32 Occasional (29-5%) HP:0002644
36 proptosis 56 32 Occasional (29-5%) HP:0000520
37 elevated aldolase level 56 32 Very frequent (99-80%) HP:0012544
38 aplasia/hypoplasia of the radius 56 32 Very frequent (99-80%) HP:0006501
39 cortical thickening of long bone diaphyses 56 32 Very frequent (99-80%) HP:0005791
40 abnormality of the tibia 56 32 Frequent (79-30%) HP:0002992
41 abnormal subcutaneous fat tissue distribution 56 32 Occasional (29-5%) HP:0007552
42 leukopenia 56 32 Occasional (29-5%) HP:0001882
43 urinary retention 56 32 Occasional (29-5%) HP:0000016
44 elevated erythrocyte sedimentation rate 56 32 Occasional (29-5%) HP:0003565
45 optic nerve compression 56 32 Occasional (29-5%) HP:0007807
46 abnormality of the humerus 56 32 Very frequent (99-80%) HP:0003063
47 craniofacial osteosclerosis 56 32 Very frequent (99-80%) HP:0005464
48 metaphyseal dysplasia 56 32 Frequent (79-30%) HP:0100255
49 headache 32 HP:0002315
50 diplopia 32 HP:0000651

UMLS symptoms related to Camurati-Engelmann Disease:


headache, pain in lower limb, waddling gait

Drugs & Therapeutics for Camurati-Engelmann Disease

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

(show top 50) (show all 361)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Irbesartan Approved, Investigational Phase 4,Phase 2 138402-11-6 3749
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 22916-47-8 4189
3
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
4
Montelukast Approved Phase 4,Phase 3 158966-92-8 5281040
5
Desflurane Approved Phase 4 57041-67-5 42113
6
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
7
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
8
Remifentanil Approved Phase 4 132875-61-7 60815
9
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
10
Miltefosine Approved Phase 4 58066-85-6 3600
11
Amlodipine Approved Phase 4 88150-42-9 2162
12
Losartan Approved Phase 4,Phase 3,Phase 2 114798-26-4 3961
13
Coal tar Approved Phase 4 8007-45-2
14
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
15
Eplerenone Approved Phase 4 107724-20-9 150310 443872
16
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
17
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
18
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
19
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
20
Ribavirin Approved Phase 4 36791-04-5 37542
21
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
22
Candesartan Approved Phase 4,Phase 1,Phase 2 139481-59-7 2541
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 11103-57-4, 68-26-8 445354
29
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3 67-97-0 6221 10883523 5280795
30
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2 50-14-6 5280793
31
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
32
Angiotensin II Phase 4,Phase 3,Phase 1,Phase 2 68521-88-0, 11128-99-7 65143 172198
33 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3,Phase 1,Phase 2
34 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1
35 Angiotensinogen Phase 4,Phase 3,Phase 1,Phase 2
36 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Anticholesteremic Agents Phase 4,Phase 2
38 Antimetabolites Phase 4,Phase 2,Phase 1
39 Atorvastatin Calcium Phase 4 134523-03-8
40 Calcium, Dietary Phase 4,Phase 3,Phase 1
41 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
42 Hypolipidemic Agents Phase 4,Phase 2
43 Lipid Regulating Agents Phase 4,Phase 2
44 Vaccines Phase 4,Phase 2,Phase 1
45 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
46 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
47 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
48 Retinol palmitate Phase 4,Phase 2
49 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1
50 Vitamins Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 225)
id Name Status NCT ID Phase
1 Omegaven (w-3 Fish Oil) Supplemented Parenteral Nutrition in Subjects of SICU. Unknown status NCT00172198 Phase 4
2 Irbesartan and Adhesion Molecules in AF Unknown status NCT00613496 Phase 4
3 Effects of Short-term Atorvastatin Treatment on Vaccination Efficacy in Nonresponder Persons to Hepatitis B Vaccine Unknown status NCT01548326 Phase 4
4 The Effect of Vitamin A Supplementation on Cytokine Profile in Obesity Unknown status NCT01405352 Phase 4
5 Effect of Montelukast on Remodelling Markers in Asthmatic Children Completed NCT00875082 Phase 4
6 The Effects of Vitamin D on Transforming Growth Factor-beta1 in Polycystic Ovary Syndrome Completed NCT02460380 Phase 4
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
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
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
11 Optimizing Prograf® Therapy in Renal Transplant Patients Completed NCT00297765 Phase 4
12 C-Reactive Protein (CRP) in Obese Diabetic Women Completed NCT00262548 Phase 4
13 The Effect of Various Types of the Renin-angiotensin-aldosterone System Blockade on Proteinuria Completed NCT01541267 Phase 4
14 The Effect of Aspirin Desensitization on Patients With Aspirin-exacerbated Respiratory Diseases Completed NCT01867281 Phase 4
15 Lactobacillus Plantarum 3547 Effects Over Inflammatory and Immunologic Markers Completed NCT02622867 Phase 4
16 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
17 A Study Of Maraviroc In HIV Co-Infected Subjects With Hepatitis C And/Or Hepatitis B Completed NCT01327547 Phase 4
18 Ramipril Treatment of Claudication Recruiting NCT02842424 Phase 4
19 Renoprotection by Pentoxifylline and Angiotensin Receptor Blocker in Chronic Kidney Disease (CKD) Recruiting NCT01377285 Phase 4
20 Clinical Study of Treating Type 2 Diabetic Nephropathy With Alfacalcidol and Irbesartan Recruiting NCT03147677 Phase 4
21 GLP-1 Receptor Agonist Therapy and Albuminuria in Patients With Type 2 Diabetes Not yet recruiting NCT03029351 Phase 4
22 Study of Arimidex and Radiotherapy Sequencing Unknown status NCT01402193 Phase 3
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 Platelet Gel in Systemic Sclerosis Unknown status NCT00463125 Phase 2, Phase 3
25 Impact of Melatonin in the Pretreatment of Organ Donor and the Influence in the Evolution of Liver Transplant. Unknown status NCT01860716 Phase 3
26 Dextromethorphan and Silymarin in Chronic Kidney Disease (CKD) Patients Unknown status NCT01091324 Phase 3
27 Acetylsalicylic Acid and Colorectal Cancer Prevention: Exploring the Platelet Function of Its Mechanism of Action Unknown status NCT02125409 Phase 3
28 Juvista in Scar Revision Surgery of Disfiguring Scars Completed NCT00742443 Phase 3
29 Comparison of Aliskiren vs Negative Controls on Aortic Stiffness in Patients With MFS Completed NCT01715207 Phase 3
30 Evaluation of Tranilast to Treat Pterygium Before Excision Completed NCT01003613 Phase 3
31 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3
32 Effects and Safety of Budesonide Inhalation Suspension Via Transnasal Nebulization in Nasal Polyps Completed NCT02024659 Phase 2, Phase 3
33 Pharmacological Modulations of Allergen-Specific Immunotherapy Completed NCT00504946 Phase 3
34 A Randomized, Double Blind Study To Compare The Effects Of Olmesartan Medoxomil Versus Placebo In Patients With Established Atherosclerosis Completed NCT00382213 Phase 3
35 Effect of Pirfenidone on Glomerular Filtration Rate and Albuminuria in Patients With Diabetic Nephropathy Recruiting NCT02689778 Phase 3
36 Semi-individualised Chinese Medicine Treatment as an Adjuvant Management for Diabetic Nephropathy Recruiting NCT02488252 Phase 2, Phase 3
37 Giant Cell Arteritis and Anakinra Trial Not yet recruiting NCT02902731 Phase 3
38 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome Withdrawn NCT01361087 Phase 3
39 PF-03446962 in Relapsed or Refractory Urothelial Cancer Unknown status NCT01620970 Phase 2
40 Safety Study of Aqueous Suppression After Ahmed Glaucoma Valve (AGV) Implantation Unknown status NCT01814514 Phase 2
41 The Effectiveness and Safety for Mesenchymal Stem Cell for Alcoholic Liver Cirrhosis Unknown status NCT01741090 Phase 2
42 Epigenetic Effects Elicited By Lactobacillus GG In Children With Cow's Milk Allergy Unknown status NCT02062476 Phase 2
43 Cannabis for Inflammatory Bowel Disease Unknown status NCT01040910 Phase 1, Phase 2
44 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
45 Phase II Study of Lucanix™ in Patients With Stages II-IV Non-Small Cell Lung Cancer Completed NCT01058785 Phase 2
46 Phase IIb Clinical Trial With TGF-β2 Antisense Compound AP 12009 for Recurrent or Refractory High-grade Glioma Completed NCT00431561 Phase 2
47 Improvement in Scar Appearance Following Injection of Avotermin (Juvista) Into Skin Incisions Made in Healthy Men and Women Completed NCT00629811 Phase 2
48 Safety and Efficacy Study of Avotermin (Juvista) in Female Subjects Completed NCT00984581 Phase 1, Phase 2
49 Study of TG-C in Patients With Grade 3 Degenerative Joint Disease of the Knee Completed NCT01221441 Phase 2
50 Clinical Research on the Treatments on Advanced Malignant Melanoma by Combining in Situ Immunotherapy and Laser Therapy Completed NCT02372708 Phase 2

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:

id Genetic test Affiliating Genes
1 Diaphyseal Dysplasia 29
2 Camurati-Engelmann Disease 24 TGFB1

Anatomical Context for Camurati-Engelmann Disease

MalaCards organs/tissues related to Camurati-Engelmann Disease:

39
Bone, Brain, Bone Marrow, Skeletal Muscle

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 67)
id Title Authors Year
1
Orthopedic Manifestations of Type I Camurati-Engelmann Disease. ( 28261436 )
2017
2
A Rare Sporadic Case of Camurati-Engelmann Disease With Jaw Involvement. ( 28499806 )
2017
3
Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease. ( 27959412 )
2017
4
An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes. ( 27928112 )
2016
5
Imaging aspects of Camurati-Engelmann disease. ( 28001254 )
2016
6
Camurati-Engelmann disease. ( 26830437 )
2016
7
Reduced dentin matrix protein expression in Camurati-Engelmann disease transgenic mouse model. ( 26427011 )
2015
8
Bilateral papilloedema in Camurati-Engelmann disease. ( 26286906 )
2015
9
Camurati-engelmann disease association with hypogonadism and primary hypothyroidism. ( 25389497 )
2014
10
Elimination of pain and improvement of exercise capacity in camurati-engelmann disease with losartan. ( 25140400 )
2014
11
Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance. ( 25145018 )
2014
12
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation. ( 25099136 )
2014
13
Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report. ( 23368730 )
2013
14
MeniA"re-like syndrome in Camurati-Engelmann disease. ( 23943989 )
2013
15
Anesthesia for a child with Camurati-Engelmann disease. ( 23577825 )
2013
16
Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. ( 23824952 )
2013
17
Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred. ( 24154985 )
2013
18
Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease. ( 22044122 )
2012
19
Camurati-Engelmann disease--a rare cause of bone pain. ( 22372177 )
2012
20
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
21
Papilledema with Camurati-Engelmann disease instigating loss of ganglion cell complex thickness. ( 21331705 )
2011
22
Skull base manifestations of Camurati-Engelmann disease. ( 20566907 )
2010
23
Unusual association between enchondroma and Camurati-Engelmann disease: a case report. ( 19943817 )
2010
24
The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis. ( 19654961 )
2009
25
Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. ( 19214502 )
2009
26
Camurati-Engelmann disease on a 99mTc-HMDP bone scan. ( 18690431 )
2008
27
A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease. ( 18095072 )
2008
28
A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease. ( 17433803 )
2007
29
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease. ( 17206397 )
2007
30
[A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease]. ( 17029195 )
2006
31
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. ( 15894597 )
2006
32
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family. ( 15959620 )
2005
33
Mesenteric fibromatosis in a patient with Camurati-Engelmann disease. A case report and literature review. ( 16457156 )
2005
34
Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases. ( 15660289 )
2005
35
Camurati-Engelmann disease in conjunction with hypogonadism. ( 16638728 )
2005
36
Juvenile vertebrobasilar ischaemic stroke in a patient with Camurati-Engelmann disease. ( 16127272 )
2005
37
Camurati-Engelmann disease--a case report and literature review. ( 15827032 )
2005
38
Internal auditory canal decompression and cochlear implantation in Camurati-Engelmann disease. ( 15577805 )
2004
39
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. ( 15103729 )
2004
40
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
41
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. ( 12843182 )
2003
42
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
43
Camurati-Engelmann disease. Review of radioclinical features. ( 12846694 )
2003
44
Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones. ( 11807860 )
2002
45
Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease). ( 11452173 )
2001
46
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. ( 11810278 )
2001
47
Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1. ( 11278244 )
2001
48
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. ( 10631145 )
2000
49
Genetic homogeneity of the Camurati-Engelmann disease. ( 11005150 )
2000
50
Cochlear implantation for auditory rehabilitation in Camurati-Engelmann disease. ( 10685567 )
2000

Variations for Camurati-Engelmann Disease

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 TGFB1 NM_000660.6(TGFB1): c.241T> C (p.Tyr81His) single nucleotide variant Pathogenic rs111033611 GRCh37 Chromosome 19, 41858709: 41858709
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.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic rs104894721 GRCh38 Chromosome 19, 41342230: 41342230
4 TGFB1 NM_000660.6(TGFB1): c.673T> C (p.Cys225Arg) single nucleotide variant Pathogenic rs104894719 GRCh37 Chromosome 19, 41848114: 41848114
5 TGFB1 NM_000660.6(TGFB1): c.653G> A (p.Arg218His) single nucleotide variant Pathogenic rs104894720 GRCh37 Chromosome 19, 41848134: 41848134
6 TGFB1 NM_000660.6(TGFB1): c.667T> G (p.Cys223Gly) single nucleotide variant Pathogenic rs104894722 GRCh37 Chromosome 19, 41848120: 41848120
7 TGFB1 NM_000660.6(TGFB1): c.29C> T (p.Pro10Leu) single nucleotide variant risk factor rs1800470 GRCh37 Chromosome 19, 41858921: 41858921

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.28 ACP5 TGFB1
2 11.18 TGFB1 TGIF1
3 11.02 LRP5 TGFB1
4 10.72 TGFB1 TGIF1
5 10.27 BGLAP TGFB1

GO Terms for Camurati-Engelmann Disease

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

id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.63 BGLAP TGFB1 TGIF1
2 negative regulation of gene expression GO:0010629 9.5 TGFB1 TGIF1 WDR35
3 bone development GO:0060348 9.48 BGLAP LRP5
4 response to radiation GO:0009314 9.43 LRP5 TGFB1
5 liver regeneration GO:0097421 9.4 TGFB1 WDR35
6 bone morphogenesis GO:0060349 9.37 ACP5 LRP5
7 response to vitamin D GO:0033280 9.26 BGLAP TGFB1
8 osteoblast development GO:0002076 9.16 BGLAP LRP5
9 negative regulation of nitric oxide biosynthetic process GO:0045019 8.96 ACP5 WDR35
10 cellular response to growth factor stimulus GO:0071363 8.8 BGLAP TGFB1 TGIF1

Sources for Camurati-Engelmann Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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