CED
MCID: CMR001
MIFTS: 65

Camurati-Engelmann Disease (CED) malady

Bone diseases, Fetal diseases categories

Summaries for Camurati-Engelmann Disease

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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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 anomalies of spine, vertebrae and pelvis, glaucoma and femur anomaly/absence/agenesis/hypoplasia/bifurcation. 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, bone and brain.

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:42 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:46 131300

GeneReviews summary for ced

Aliases & Classifications for Camurati-Engelmann Disease

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
camurati-engelmann disease:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

camurati-engelmann disease 8 9 19 42 20 21 46 10 44 48
progressive diaphyseal dysplasia 8 19 48
diaphyseal dysplasia 8 22 21
diaphyseal dysplasia 1, progressive 42 60
ced 42 21
pdd 42 21
pervasive development disorder 60
camurati-engelmann syndrome 21
diaphyseal hyperostosis 21
engelmann's disease 21
engelman's disease 8
engelmann disease 42
dpd1 42


External Ids:

Disease Ontology8 DOID:4997
NCIt39 C84610
MeSH34 D003966
OMIM46 131300
MESH via Orphanet35 D003966
ICD10 via Orphanet26 Q78.3
UMLS via Orphanet61 C0011989

Related Diseases for Camurati-Engelmann Disease

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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 101)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis30.0LRP5, BGLAP
2camurati engelmann disease, type 210.7
3cochlear disease10.4
4pervasive developmental disorder not otherwise specified10.3
5metaphyseal dysplasia10.3
6dappled diaphyseal dysplasia10.3
7otosclerosis10.3
8amenorrhea10.3
9craniodiaphyseal dysplasia10.3
10cerebellar ataxia10.3
11cerebellar disease10.3
12chromosomal disease10.3
13conjunctivitis10.3
14hypogonadism10.3
15hypothalamic disease10.3
16neuropathy10.3
17obesity10.3
18papilledema10.3
19vestibular disease10.3
20ribbing disease10.3
21cranioectodermal dysplasia 210.3
22pervasive developmental disorder10.3
23autistic disorder10.2
24ghosal hematodiaphyseal dysplasia syndrome10.2
25cranioectodermal dysplasia 110.1
26atypical autism10.1
27autism spectrum disorder10.1
28mood disorder10.1
29schizophrenia10.1
30attention deficit hyperactivity disorder10.1
31asperger syndrome10.1
32epsilon-trimethyllysine hydroxylase deficiency10.1
33autism susceptibility 1610.1
34autism susceptibility 1510.1
35autism susceptibility 1710.1
36autism 1810.1
37autism susceptibility, x-linked 210.1
38autism susceptibility, x-linked 110.1
39autism susceptibility, x-linked 310.1
40autism x-linked 510.1
41multiple epiphyseal dysplasia10.0
42craniometaphyseal dysplasia10.0
43neuromuscular disease10.0
44ghosal hematodiaphyseal syndrome10.0
45sensenbrenner syndrome10.0
46cranioectodermal dysplasia 310.0
47cranioectodermal dysplasia 410.0
48lung cancer10.0TGFB1
49hypertension10.0TGFB1
50inflammatory bowel disease10.0TGFB1

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



Diseases related to camurati-engelmann disease

Clinical Features for Camurati-Engelmann Disease

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46OMIM, 48Orphanet
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Clinical features from OMIM:

131300

Clinical synopsis from OMIM:

131300

Symptoms:

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

Drugs & Therapeutics for Camurati-Engelmann Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Camurati-Engelmann Disease:

32
Bone, Brain, Liver, Bone marrow

FMA organs/tissues related to Camurati-Engelmann Disease:

14
Long bone

Animal Models for Camurati-Engelmann Disease or affiliated genes

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Publications for Camurati-Engelmann Disease

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Sources:
50PubMed
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Articles related to Camurati-Engelmann Disease:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Anesthesia for a child with Camurati-Engelmann disease. (23577825)
2013
2
Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report. (23368730)
2013
3
MeniA"re-like syndrome in Camurati-Engelmann disease. (23943989)
2013
4
Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. (23824952)
2013
5
Camurati-Engelmann disease--a rare cause of bone pain. (22372177)
2012
6
Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease. (22044122)
2012
7
Papilledema with Camurati-Engelmann disease instigating loss of ganglion cell complex thickness. (21331705)
2011
8
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
9
Unusual association between enchondroma and Camurati-Engelmann disease: a case report. (19943817)
2010
10
Skull base manifestations of Camurati-Engelmann disease. (20566907)
2010
11
Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. (19214502)
2009
12
A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease. (18095072)
2008
13
Camurati-Engelmann disease on a 99mTc-HMDP bone scan. (18690431)
2008
14
A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease. (17433803)
2007
15
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease. (17206397)
2007
16
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. (15894597)
2006
17
A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease]. (17029195)
2006
18
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family. (15959620)
2005
19
Juvenile vertebrobasilar ischaemic stroke in a patient with Camurati-Engelmann disease. (16127272)
2005
20
Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases. (15660289)
2005
21
Mesenteric fibromatosis in a patient with Camurati-Engelmann disease. A case report and literature review. (16457156)
2005
22
Camurati-Engelmann disease in conjunction with hypogonadism. (16638728)
2005
23
Internal auditory canal decompression and cochlear implantation in Camurati-Engelmann disease. (15577805)
2004
24
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
25
Camurati-Engelmann disease. Review of radioclinical features. (12846694)
2003
26
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. (12843182)
2003
27
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
28
Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones. (11807860)
2002
29
Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease). (11452173)
2001
30
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. (11810278)
2001
31
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
32
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. (10973241)
2000
33
Cochlear implantation for auditory rehabilitation in Camurati-Engelmann disease. (10685567)
2000
34
Genetic homogeneity of the Camurati-Engelmann disease. (11005150)
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
Camurati-Engelmann disease. A case report. (10602980)
1999
38
Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease). (10457303)
1999
39
Camurati-Engelmann disease: a late and sporadic case with metaphyseal involvement. (9933401)
1999
40
Bone scan in Camurati-Engelmann disease. (9580522)
1998
41
Camurati-Engelmann disease: two case reports describing metadiaphyseal dysplasia associated with cerebellar ataxia. (9661085)
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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Camurati-Engelmann Disease:

62
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology, 53Reactome, 52R&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

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Camurati-Engelmann Disease according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1pge24410.5TGFB1
2clodronate44 49 1112.3ACP5
3cmdb74410.1TGFB1, TGIF1
4alizarin red s4410.0TGFB1, BGLAP
5pmma449.9ACP5, TGFB1
6estradiol44 11 2411.9ACP5
7tartrate449.8ACP5, BGLAP
8tibolone449.7BGLAP, ACP5
9ns 39844 5910.7BGLAP, TGFB1
10pyridinoline449.7ACP5, BGLAP
11alginate449.7BGLAP, TGFB1
12titanium449.7ACP5, BGLAP
13deoxypyridinoline449.7BGLAP, ACP5
1425-hydroxyvitamin d449.5ACP5, BGLAP
15hydroxyproline44 11 2411.4TGFB1, ACP5, BGLAP
16phosphorus449.4ACP5, BGLAP
17tetracycline44 1110.4TGFB1, ACP5, BGLAP
18hydroxyapatite449.4BGLAP, ACP5, TGIF1
19tamoxifen44 49 28 1112.4TGFB1, TGIF1, BGLAP
20clonidine44 28 1111.3TGFB1, BGLAP
21tgf beta1449.2TGFB1, TGFBR1, TGIF1
22ribonucleic acid449.1TGIF1, TGFBR1, TGFB1
23cyclosporin a44 28 5911.1TGFB1, ACP5, BGLAP
24procollagen449.1BGLAP, ACP5, TGIF1, TGFB1
25calcitriol44 59 11 2412.0BGLAP, ACP5, TGIF1, TGFB1
26creatinine449.0BGLAP, ACP5, TGIF1, TGFB1
27rapamycin448.9TGFBR1, TGIF1, ACP5
28dihydrotestosterone44 28 11 2411.7TGFB1, TGFBR1, TGIF1, BGLAP
29vegf448.7TGFB1, TGFBR1, TGIF1, BGLAP
30paraffin448.6BGLAP, ACP5, TGFBR1, TGFB1
311,25 dihydroxy vitamin d3448.6TGFB1, TGIF1, ACP5, LRP5, BGLAP
32vitamin d448.6BGLAP, LRP5, ACP5, TGIF1, TGFB1
33retinoic acid44 249.5BGLAP, TGIF1, TGFBR1, TGFB1
34heparin44 28 11 2411.5BGLAP, ACP5, TGIF1, TGFBR1
35dexamethasone44 49 28 1111.2BGLAP, ACP5, TGIF1, TGFBR1, TGFB1

GO Terms for genes affiliated with Camurati-Engelmann Disease

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Sources:
16Gene Ontology
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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

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  • Antibodies
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Sources for Camurati-Engelmann Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet