CED
MCID: CMR001
MIFTS: 57

Camurati-Engelmann Disease (CED) malady

Bone, Fetal categories

Summaries for Camurati-Engelmann Disease

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Camurati-Engelmann Disease, also known as progressive diaphyseal dysplasia, is related to osteopetrosis and camurati engelmann disease, type 2, and has symptoms including frontal bossing/prominent forehead, genu valgum and scoliosis. An important gene associated with Camurati-Engelmann Disease is TGFB1 (transforming growth factor, beta 1), and among its related pathways are PEDF Induced Signaling and Transcription Role of VDR in regulation of genes involved in osteoporosis. The compounds pge2 and clodronate have been mentioned in the context of this disorder. Affiliated tissues include long bone, brain and bone marrow.

Disease Ontology:8 An osteosclerosis that has material basis in mutations in the tgfb1 gene which results in increased bone density located in long bone.

NIH Rare Diseases:43 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. last updated: 8/1/2013

Description from OMIM:47 131300

GeneReviews summary for ced

Aliases & Classifications for Camurati-Engelmann Disease

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 22GTR, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
camurati-engelmann disease:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

camurati-engelmann disease 8 9 19 43 20 21 47 10 45 49
progressive diaphyseal dysplasia 8 19 49
diaphyseal dysplasia 8 22 21
diaphyseal dysplasia 1, progressive 43 61
ced 43 21
pdd 43 21
pervasive development disorder 61
camurati-engelmann syndrome 21
diaphyseal hyperostosis 21
engelmann's disease 21
engelman's disease 8
engelmann disease 43
dpd1 43


External Ids:

Disease Ontology8 DOID:4997
NCIt40 C84610
MeSH35 D003966
OMIM47 131300
MESH via Orphanet36 D003966
ICD10 via Orphanet26 Q78.3
UMLS via Orphanet62 C0011989

Related Diseases for Camurati-Engelmann Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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/GeneDecks gene sharing:

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis30.0LRP5, BGLAP
2camurati engelmann disease, type 210.7
3cochlear disease10.5
4pervasive developmental disorder not otherwise specified10.3
5otosclerosis10.3
6amenorrhea10.3
7craniodiaphyseal dysplasia10.3
8vestibular disease10.3
9ribbing disease10.3
10enchondroma10.3
11fibromatosis10.3
12cranioectodermal dysplasia 210.3
13ataxia10.3
14dappled diaphyseal dysplasia10.3
15autistic disorder10.3
16asperger syndrome10.2
17cranioectodermal dysplasia 110.2
18atypical autism10.1
19autism spectrum disorder10.1
20childhood-onset schizophrenia10.1
21attention deficit hyperactivity disorder10.1
22epsilon-trimethyllysine hydroxylase deficiency10.1
23autism susceptibility 1610.1
24autism susceptibility 1510.1
25autism susceptibility 1710.1
26autism 1810.1
27autism susceptibility, x-linked 210.1
28autism susceptibility, x-linked 110.1
29autism susceptibility, x-linked 310.1
30autism x-linked 510.1
31multiple epiphyseal dysplasia10.0
32craniometaphyseal dysplasia10.0
33ghosal hematodiaphyseal syndrome10.0
34sensenbrenner syndrome10.0
35cranioectodermal dysplasia 310.0
36cranioectodermal dysplasia 410.0
37lung cancer10.0TGFB1
38hypertension10.0TGFB1
39inflammatory bowel disease10.0TGFB1
40lattice corneal dystrophy10.0TGIF1
41psoriasis10.0TGIF1
42craniosynostosis10.0LRP5
43osteonecrosis10.0BGLAP
44osteosclerosis10.0LRP5
45chondrosarcoma10.0TGFBR1
46liver cirrhosis10.0TGFB1
47marfan syndrome10.0TGFBR1
48aortic aneurysm10.0TGFBR1
49glanders10.0LRP5
50asthma10.0TGIF1, TGFB1

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



Diseases related to camurati-engelmann disease

Clinical Features for Camurati-Engelmann Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

131300

Clinical synopsis from OMIM:

131300

Symptoms:

49 (show all 49)
  • frontal bossing/prominent forehead
  • genu valgum
  • scoliosis
  • facial palsy
  • kyphosis
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autosomal dominant inheritance
  • lordosis
  • muscle weakness/flaccidity
  • hearing loss/hypoacusia/deafness
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • facial dysmorphism
  • multiple caries
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • cortical anomaly/thick bone cortical layer
  • flat foot
  • restricted joint mobility/joint stiffness/ankylosis
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • late puberty/hypogonadism/hypogenitalism
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • cardiomyopathy/hypertrophic/dilated
  • anaemia
  • osteosclerosis/osteopetrosis/bone condensation
  • sensitive trouble/deficit
  • metaphyseal anomaly
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • skull/cranial anomalies
  • anorexia
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • glaucoma
  • marfanoid morphotype
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • hyperostosis
  • bladder and ureter anomalies
  • anomalies of spine, vertebrae and pelvis
  • proptosis/exophthalmos
  • bone pain
  • diaphyseal anomaly
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • abnormal fat distribution/lipodystrophy
  • leukopenia/hypoleukocytosis
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus

Drugs & Therapeutics for Camurati-Engelmann Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Camurati-Engelmann Disease

Drug clinical trials:

Search ClinicalTrials for Camurati-Engelmann Disease

Search NIH Clinical Center for Camurati-Engelmann Disease

Search CenterWatch for Camurati-Engelmann Disease

Genetic Tests for Camurati-Engelmann Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Camurati-Engelmann Disease:

id Genetic test Affiliating Genes
1 Camurati-engelmann Disease20 TGFB1
2 Diaphyseal Dysplasia22

Anatomical Context for Camurati-Engelmann Disease

Sources:
33MalaCards, 14FMA
See all sources

MalaCards organs/tissues related to Camurati-Engelmann Disease:

33
Brain, Bone marrow, Skeletal muscle

FMA organs/tissues related to Camurati-Engelmann Disease:

14
Long bone

Animal Models for Camurati-Engelmann Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Camurati-Engelmann Disease

Sources:
51PubMed
See all sources

Articles related to Camurati-Engelmann Disease:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred. (24154985)
2013
2
Anesthesia for a child with Camurati-Engelmann disease. (23577825)
2013
3
Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report. (23368730)
2013
4
MeniA"re-like syndrome in Camurati-Engelmann disease. (23943989)
2013
5
Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. (23824952)
2013
6
Camurati-Engelmann disease--a rare cause of bone pain. (22372177)
2012
7
Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease. (22044122)
2012
8
Papilledema with Camurati-Engelmann disease instigating loss of ganglion cell complex thickness. (21331705)
2011
9
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
10
Unusual association between enchondroma and Camurati-Engelmann disease: a case report. (19943817)
2010
11
Skull base manifestations of Camurati-Engelmann disease. (20566907)
2010
12
Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. (19214502)
2009
13
The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis. (19654961)
2009
14
Camurati-Engelmann disease on a 99mTc-HMDP bone scan. (18690431)
2008
15
A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease. (17433803)
2007
16
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease. (17206397)
2007
17
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. (15894597)
2006
18
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family. (15959620)
2005
19
Camurati-Engelmann disease--a case report and literature review. (15827032)
2005
20
Juvenile vertebrobasilar ischaemic stroke in a patient with Camurati-Engelmann disease. (16127272)
2005
21
Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases. (15660289)
2005
22
Mesenteric fibromatosis in a patient with Camurati-Engelmann disease. A case report and literature review. (16457156)
2005
23
Camurati-Engelmann disease in conjunction with hypogonadism. (16638728)
2005
24
Internal auditory canal decompression and cochlear implantation in Camurati-Engelmann disease. (15577805)
2004
25
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
26
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. (15103729)
2004
27
Camurati-Engelmann disease. Review of radioclinical features. (12846694)
2003
28
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. (12843182)
2003
29
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
30
Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease). (11452173)
2001
31
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. (11810278)
2001
32
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
33
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. (10973241)
2000
34
Cochlear implantation for auditory rehabilitation in Camurati-Engelmann disease. (10685567)
2000
35
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. (10631145)
2000
36
Mutations in the gene encoding the latency-associated peptide of TGF- beta 1 cause Camurati-Engelmann disease. (11062463)
2000
37
Pamidronate in the treatment of progressive diaphyseal dysplasia (Camurati-Engelmann disease) (10342062)
1999
38
Camurati-Engelmann disease. A case report. (10602980)
1999
39
Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease). (10457303)
1999
40
Camurati-Engelmann disease: a late and sporadic case with metaphyseal involvement. (9933401)
1999
41
Bone scan in Camurati-Engelmann disease. (9580522)
1998
42
Camurati-Engelmann disease. Effects of corticosteroids. (9701854)
1998
43
Biochemical markers of bone turnover in Camurati-Engelmann disease: a report on four cases in one family. (9192513)
1997
44
Camurati-Engelmann disease presenting as 'juvenile otosclerosis'. (8894811)
1996
45
Vestibular nerve compression in Camurati-Engelmann disease. (7574262)
1995
46
Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling. (7917133)
1994
47
Camurati-Engelmann Disease (20301335)
1993
48
MR of multiple cranial neuropathies in a patient with camurati-engelmann disease: case report. (2058515)
1991
49
Camurati-Engelmann disease with recurrent bone marrow hypoplasia. (4055012)
1985
50
Camurati-Engelmann disease (progressive hereditary craniodiaphyseal dysplasia). Case report. (619016)
1978

Genetic Variations for Camurati-Engelmann Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Camurati-Engelmann Disease:

63
id Symbol AA change Variation SNP ID
1TGFB1p.Tyr81HisVAR_017607
2TGFB1p.Arg218CysVAR_017608
3TGFB1p.Arg218HisVAR_017609
4TGFB1p.His222AspVAR_017610
5TGFB1p.Cys225ArgVAR_017611
6TGFB1p.Cys223GlyVAR_067303
7TGFB1p.Cys223ArgVAR_067304

Expression for genes affiliated with Camurati-Engelmann Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Camurati-Engelmann Disease

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

Pathways for genes affiliated with Camurati-Engelmann Disease

Sources:
52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 4Cell Signaling Technology, 54Reactome, 53R&D Systems, 12EMD Millipore
See all sources

Pathways related to Camurati-Engelmann Disease according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.7TGFBR1
2
Transcription Role of VDR in regulation of genes involved in osteoporosis
9.7TGFBR1
39.6TGFB1, BGLAP
49.3TGFBR1, TGFB1
59.3TGFBR1, TGFB1
69.3TGFBR1, TGFB1
79.3TGFBR1, TGFB1
8
Hide members
9.3TGFBR1, TGFB1
9
Hide members
9.3TGFBR1, TGFB1
10
Hide members
9.3TGFBR1, TGFB1
11
Hide members
9.3TGFB1, TGFBR1
12
Hide members
9.3TGFB1, TGFBR1
13
Hide members
9.3TGFB1, TGFBR1
149.3TGFB1, TGFBR1
15
Hide members
9.3TGFB1, TGFBR1
16
Cytokine production by Th17 cells in CF (Mouse model)
9.3TGFB1, TGFBR1
17
Hide members
9.3TGFB1, TGFBR1
18
Hide members
9.3TGFB1, TGFBR1
199.3TGFB1, TGFBR1
209.3TGFB1, TGFBR1
218.9TGFB1, TGFBR1, TGIF1
228.9TGFB1, TGFBR1, TGIF1
238.8LRP5, TGFBR1, TGFB1
248.8TGFB1, TGFBR1, ACP5

Compounds for genes affiliated with Camurati-Engelmann Disease

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Camurati-Engelmann Disease according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1pge24510.5TGFB1
2clodronate45 50 1112.3ACP5
3cmdb74510.1TGFB1, TGIF1
4alizarin red s4510.0TGFB1, BGLAP
5pmma459.9ACP5, TGFB1
6estradiol45 11 2411.9ACP5
7tartrate459.8ACP5, BGLAP
8tibolone459.7BGLAP, ACP5
9ns 39845 6010.7BGLAP, TGFB1
10pyridinoline459.7ACP5, BGLAP
11alginate459.7BGLAP, TGFB1
12titanium459.7ACP5, BGLAP
13deoxypyridinoline459.7BGLAP, ACP5
1425-hydroxyvitamin d459.5ACP5, BGLAP
15hydroxyproline45 11 2411.4TGFB1, ACP5, BGLAP
16phosphorus459.4ACP5, BGLAP
17tetracycline45 1110.4TGFB1, ACP5, BGLAP
18hydroxyapatite459.4BGLAP, ACP5, TGIF1
19tamoxifen45 50 29 1112.4TGFB1, TGIF1, BGLAP
20clonidine45 29 1111.3TGFB1, BGLAP
21tgf beta1459.2TGFB1, TGFBR1, TGIF1
22ribonucleic acid459.1TGIF1, TGFBR1, TGFB1
23cyclosporin a45 29 6011.1TGFB1, ACP5, BGLAP
24procollagen459.1BGLAP, ACP5, TGIF1, TGFB1
25calcitriol45 60 11 2412.0BGLAP, ACP5, TGIF1, TGFB1
26creatinine459.0BGLAP, ACP5, TGIF1, TGFB1
27rapamycin458.9TGFBR1, TGIF1, ACP5
28dihydrotestosterone45 29 11 2411.7TGFB1, TGFBR1, TGIF1, BGLAP
29vegf458.7TGFB1, TGFBR1, TGIF1, BGLAP
30paraffin458.6BGLAP, ACP5, TGFBR1, TGFB1
311,25 dihydroxy vitamin d3458.6TGFB1, TGIF1, ACP5, LRP5, BGLAP
32vitamin d458.6BGLAP, LRP5, ACP5, TGIF1, TGFB1
33retinoic acid45 249.5BGLAP, TGIF1, TGFBR1, TGFB1
34heparin45 29 11 2411.5BGLAP, ACP5, TGIF1, TGFBR1
35dexamethasone45 50 29 1111.2BGLAP, ACP5, TGIF1, TGFBR1, TGFB1

GO Terms for genes affiliated with Camurati-Engelmann Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Camurati-Engelmann Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.2TGFBR1, LRP5

Biological processes related to Camurati-Engelmann Disease according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1response to vitamin DGO:0332809.8TGFB1, BGLAP
2bone morphogenesisGO:0603499.7LRP5, ACP5
3osteoblast developmentGO:0020769.6BGLAP, LRP5
4response to cholesterolGO:0707239.6TGFB1, TGFBR1
5positive regulation of SMAD protein import into nucleusGO:0603919.5TGFBR1, TGFB1
6germ cell migrationGO:0083549.5TGFBR1, TGFB1
7pathway-restricted SMAD protein phosphorylationGO:0603899.5TGFB1, TGFBR1
8positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.4TGFB1, TGFBR1
9epithelial to mesenchymal transitionGO:0018379.3TGFB1, TGFBR1
10positive regulation of protein kinase B signaling cascadeGO:0518979.3TGFB1, TGFBR1
11response to drugGO:0424939.2BGLAP, TGIF1, TGFB1
12transforming growth factor beta receptor signaling pathwayGO:0071799.1TGFB1, TGFBR1, TGIF1
13negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.0TGFB1, TGFBR1
14positive regulation of cell proliferationGO:0082848.7TGFB1, TGFBR1, LRP5

Molecular functions related to Camurati-Engelmann Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1type II transforming growth factor beta receptor bindingGO:0051149.3TGFB1, TGFBR1

Products for genes affiliated with Camurati-Engelmann Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Camurati-Engelmann Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet