CED
MCID: CMR001
MIFTS: 67

Camurati-Engelmann Disease (CED) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Camurati-Engelmann Disease

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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 bladder and ureter anomalies, 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 Interleukin-11 Signaling Pathway and MicroRNAs in cardiomyocyte hypertrophy. The compounds cmdb7 and alizarin red s have been mentioned in the context of this disorder. Affiliated tissues include long bone, bone and liver, and related mouse phenotypes are embryogenesis and skeleton.

Disease Ontology:9 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:44 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:48 131300

GeneReviews summary for ced

Aliases & Classifications for Camurati-Engelmann Disease

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
camurati-engelmann disease:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

camurati-engelmann disease 9 10 20 44 21 22 48 11 46 50
progressive diaphyseal dysplasia 9 20 44 50
diaphyseal dysplasia 9 23 22
diaphyseal dysplasia 1, progressive 44 63
ced 44 22
pdd 44 22
pervasive development disorder 63
camurati-engelmann syndrome 22
diaphyseal hyperostosis 22
engelmann's disease 22
engelman's disease 9
engelmann disease 44
dpd1 44


External Ids:

Disease Ontology9 DOID:4997
MeSH36 D003966
NCIt41 C84610
OMIM48 131300
MESH via Orphanet37 D003966
ICD10 via Orphanet27 Q78.3
UMLS via Orphanet64 C0011989

Related Diseases for Camurati-Engelmann Disease

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Sources:
18GeneCards, 19GeneDecks
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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 93)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis30.1LRP5, BGLAP
2camurati engelmann disease, type 210.7
3pervasive developmental disorder10.6
4pervasive developmental disorder not otherwise specified10.4
5atypical autism10.4
6metaphyseal dysplasia10.3
7dappled diaphyseal dysplasia10.3
8otosclerosis10.3
9amenorrhea10.3
10craniodiaphyseal dysplasia10.3
11cerebellar ataxia10.3
12conjunctivitis10.3
13hypogonadism10.3
14neuropathy10.3
15obesity10.3
16enchondroma10.3
17fibromatosis10.3
18ribbing disease10.3
19cranioectodermal dysplasia 210.3
20ataxia10.3
21autistic disorder10.3
22autism spectrum disorder10.2
23ghosal hematodiaphyseal dysplasia syndrome10.2
24cranioectodermal dysplasia 110.2
25attention deficit hyperactivity disorder10.1
26asperger syndrome10.1
27epsilon-trimethyllysine hydroxylase deficiency10.1
28autism susceptibility 1610.1
29autism susceptibility 1510.1
30autism susceptibility 1710.1
31autism 1810.1
32autism susceptibility, x-linked 210.1
33autism susceptibility, x-linked 110.1
34autism susceptibility, x-linked 310.1
35autism x-linked 510.1
36lattice corneal dystrophy10.1TGIF1
37osteonecrosis10.1BGLAP
38biliary atresia10.1TGIF1, TGFB1
39sost-related sclerosing bone dysplasia10.1TGFB1, LRP5
40hereditary hemorrhagic telangiectasia10.1TGFB1, TGFBR1
41ankylosing spondylitis10.1BGLAP, TGIF1
42renal fibrosis10.1TGFBR1, TGFB1
43idiopathic juvenile osteoporosis10.1BGLAP, LRP5
44hyperostosis10.1BGLAP, LRP5
45keloids10.0TGFBR1, TGFB1
46multiple epiphyseal dysplasia10.0
47craniometaphyseal dysplasia10.0
48ghosal hematodiaphyseal syndrome10.0
49hypercalcemia10.0BGLAP, TGIF1
50osteogenesis imperfecta10.0BGLAP, LRP5

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



Diseases related to camurati-engelmann disease

Symptoms for Camurati-Engelmann Disease

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

131300

Clinical features from OMIM:

131300

Symptoms:

50 (show all 49)
  • bladder and ureter anomalies
  • 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
  • anomalies of spine, vertebrae and pelvis
  • cardiomyopathy/hypertrophic/dilated
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • 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)
  • 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
  • splenomegaly
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Camurati-Engelmann Disease

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Sources:
43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Camurati-Engelmann Disease

Search NIH Clinical Center for Camurati-Engelmann Disease

Genetic Tests for Camurati-Engelmann Disease

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21GeneTests, 23GTR
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Genetic tests related to Camurati-Engelmann Disease:

id Genetic test Affiliating Genes
1 Camurati-Engelmann Disease21 TGFB1
2 Diaphyseal Dysplasia23

Anatomical Context for Camurati-Engelmann Disease

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Camurati-Engelmann Disease:

34
Bone, Liver, Bone marrow

FMA organs/tissues related to Camurati-Engelmann Disease:

15
Long bone

Animal Models for Camurati-Engelmann Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Camurati-Engelmann Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.6TGFB1, TGIF1, TGFBR1, LRP5
2MP:00053908.1LRP5, TGFBR1, TGIF1, ACP5
3MP:00053877.9ACP5, TGFB1, TGIF1, TGFBR1, LRP5

Publications for Camurati-Engelmann Disease

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53PubMed
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Articles related to Camurati-Engelmann Disease:

(show top 50)    (show all 54)
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
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
8
Unusual association between enchondroma and Camurati-Engelmann disease: a case report. (19943817)
2010
9
Skull base manifestations of Camurati-Engelmann disease. (20566907)
2010
10
Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. (19214502)
2009
11
A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease. (18095072)
2008
12
Camurati-Engelmann disease on a 99mTc-HMDP bone scan. (18690431)
2008
13
A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease. (17433803)
2007
14
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease. (17206397)
2007
15
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. (15894597)
2006
16
A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease]. (17029195)
2006
17
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family. (15959620)
2005
18
Camurati-Engelmann disease--a case report and literature review. (15827032)
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
Internal auditory canal decompression and cochlear implantation in Camurati-Engelmann disease. (15577805)
2004
23
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
24
Camurati-Engelmann disease. Review of radioclinical features. (12846694)
2003
25
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. (12843182)
2003
26
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
27
Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones. (11807860)
2002
28
Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease). (11452173)
2001
29
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. (11810278)
2001
30
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
31
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. (10973241)
2000
32
Cochlear implantation for auditory rehabilitation in Camurati-Engelmann disease. (10685567)
2000
33
Genetic homogeneity of the Camurati-Engelmann disease. (11005150)
2000
34
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. (10631145)
2000
35
Mutations in the gene encoding the latency-associated peptide of TGF- beta 1 cause Camurati-Engelmann disease. (11062463)
2000
36
Pamidronate in the treatment of progressive diaphyseal dysplasia (Camurati-Engelmann disease) (10342062)
1999
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

Variations for Camurati-Engelmann Disease

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Camurati-Engelmann Disease:

65
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

Clinvar genetic disease variations for Camurati-Engelmann Disease:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1TGFB1NM_000660.5(TGFB1): c.673T> C (p.Cys225Arg)single nucleotide variantPathogenicrs104894719GRCh37Chr 19, 41848114: 41848114
2TGFB1NM_000660.5(TGFB1): c.653G> A (p.Arg218His)single nucleotide variantPathogenicrs104894720GRCh37Chr 19, 41848134: 41848134
3TGFB1NM_000660.5(TGFB1): c.667T> G (p.Cys223Gly)single nucleotide variantPathogenicrs104894722GRCh37Chr 19, 41848120: 41848120
4TGFB1NM_000660.5(TGFB1): c.652C> T (p.Arg218Cys)single nucleotide variantPathogenicrs104894721GRCh37Chr 19, 41848135: 41848135
5TGFB1NM_000660.5(TGFB1): c.241T> C (p.Tyr81His)single nucleotide variantPathogenicrs111033611GRCh37Chr 19, 41858709: 41858709
6TGFB1NM_000660.5(TGFB1): c.667T> C (p.Cys223Arg)single nucleotide variantPathogenicrs104894722GRCh37Chr 19, 41848120: 41848120
7TGFB1NM_000660.5(TGFB1): c.30_38dupGCTGCTGCT (p.Leu13_Pro14insLeuLeuLeu)duplicationPathogenicrs281865483GRCh37Chr 19, 41858912: 41858920
8TGFB1NM_000660.5(TGFB1): c.466C> T (p.Arg156Cys)single nucleotide variantPathogenicrs200482214GRCh37Chr 19, 41854250: 41854250
9TGFB1NM_000660.5(TGFB1): c.505G> A (p.Glu169Lys)single nucleotide variantPathogenicrs281865484GRCh37Chr 19, 41854211: 41854211
10TGFB1NM_000660.5(TGFB1): c.664C> G (p.His222Asp)single nucleotide variantPathogenicrs281865485GRCh37Chr 19, 41848123: 41848123
11TGFB1NM_000660.5(TGFB1): c.667T> A (p.Cys223Ser)single nucleotide variantPathogenicrs104894722GRCh37Chr 19, 41848120: 41848120

Expression for genes affiliated with Camurati-Engelmann Disease

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Sources:
2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 5Cell Signaling Technology, 61Thomson Reuters, 31KEGG, 56Reactome, 55R&D Systems, 54QIAGEN, 58SinoBiological
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Pathways related to Camurati-Engelmann Disease according to GeneCards/GeneDecks:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6BGLAP, TGFB1
29.6TGFB1, LRP5
39.6TGFBR1, TGFB1
4
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation61
9.6TGFBR1, TGFB1
5
Show member pathways
9.6TGFBR1, TGFB1
6
Show member pathways
9.6TGFBR1, TGFB1
79.6TGFBR1, TGFB1
8
Show member pathways
9.6TGFB1, TGFBR1
99.6TGFB1, TGFBR1
109.6TGFB1, TGFBR1
119.6TGFB1, TGFBR1
129.6TGFB1, TGFBR1
13
Show member pathways
Translation Non genomic rapid action of Androgen Receptor61
9.6TGFB1, TGFBR1
14
Show member pathways
9.6TGFB1, TGFBR1
15
Show member pathways
9.6TGFB1, TGFBR1
169.6TGFB1, TGFBR1
179.6TGFB1, TGFBR1
18
Show member pathways
9.6TGFB1, TGFBR1
199.6TGFB1, TGFBR1
209.6TGFB1, TGFBR1
21
Show member pathways
ALK1 pathway39
9.6TGFB1, TGFBR1
229.5BGLAP, TGFBR1
239.5ACP5, TGFB1
24
Show member pathways
9.2TGFB1, TGIF1, TGFBR1
259.2TGFB1, TGIF1, TGFBR1
269.2TGFB1, TGIF1, TGFBR1
279.1TGFB1, TGFBR1, LRP5
289.0TGFBR1, TGFB1, ACP5
298.5ACP5, TGFB1, TGIF1, TGFBR1

Compounds for genes affiliated with Camurati-Engelmann Disease

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Sources:
46Novoseek, 62Tocris Bioscience, 52PharmGKB, 30IUPHAR, 12DrugBank, 25HMDB, 3BitterDB
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Compounds related to Camurati-Engelmann Disease according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1cmdb74610.1TGFB1, TGIF1
2alizarin red s4610.0TGFB1, BGLAP
3ns 39846 6210.9BGLAP, TGFB1
4alginate469.9BGLAP, TGFB1
5pmma469.8ACP5, TGFB1
64-hydroxytamoxifen469.8TGIF1, TGFB1
7clonidine46 52 30 1212.8TGFB1, BGLAP
8tartrate469.8ACP5, BGLAP
9clodronate46 52 1211.7ACP5, BGLAP
10tibolone469.7ACP5, BGLAP
11titanium469.7ACP5, BGLAP
12deoxypyridinoline469.7BGLAP, ACP5
1325-hydroxyvitamin d469.6ACP5, BGLAP
14phosphorus469.6BGLAP, ACP5
15tamoxifen46 52 30 1212.5TGFB1, TGIF1, BGLAP
16tgf beta1469.5TGFBR1, TGIF1, TGFB1
17ribonucleic acid469.5TGFBR1, TGIF1, TGFB1
18hydroxyproline46 25 1211.4ACP5, TGFB1, BGLAP
19tetracycline46 1210.4BGLAP, TGFB1, ACP5
20hydroxyapatite469.4BGLAP, TGIF1, ACP5
21polyethylene glycol469.4ACP5, TGFB1
22estradiol46 25 1211.2ACP5, TGIF1, BGLAP
23rapamycin469.2ACP5, TGIF1, TGFBR1
24cyclosporin a46 30 6211.2ACP5, TGFB1, BGLAP
25oligonucleotide469.2TGFB1, TGIF1, TGFBR1
26dihydrotestosterone46 30 25 1212.1BGLAP, TGFBR1, TGIF1, TGFB1
27azathioprine46 3 52 1212.1ACP5, BGLAP
28vegf469.1BGLAP, TGFBR1, TGIF1, TGFB1
29procollagen469.0ACP5, TGFB1, TGIF1, BGLAP
30retinoic acid46 2510.0BGLAP, TGFBR1, TGIF1, TGFB1
31calcitriol46 62 25 1212.0ACP5, TGFB1, TGIF1, BGLAP
32pge2469.0ACP5, TGFB1, TGIF1, BGLAP
33creatinine469.0BGLAP, TGIF1, TGFB1, ACP5
34h2o2469.0BGLAP, TGIF1, ACP5
35paraffin468.9ACP5, TGFB1, TGFBR1, BGLAP
36heparin46 30 25 1211.8ACP5, TGIF1, TGFBR1, BGLAP
37serine468.8TGFB1, TGIF1, TGFBR1, BGLAP
381,25 dihydroxy vitamin d3468.5ACP5, TGFB1, TGIF1, BGLAP, LRP5
39vitamin d468.5LRP5, BGLAP, TGIF1, TGFB1, ACP5
40dexamethasone46 52 30 1211.5BGLAP, TGFBR1, TGIF1, TGFB1, ACP5
41estrogen468.0LRP5, BGLAP, TGFBR1, TGIF1, TGFB1, ACP5

GO Terms for genes affiliated with Camurati-Engelmann Disease

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17Gene Ontology
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Cellular components related to Camurati-Engelmann Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.4TGFBR1, LRP5

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1response to vitamin DGO:0332809.9TGFB1, BGLAP
2response to cholesterolGO:0707239.9TGFB1, TGFBR1
3positive regulation of SMAD protein import into nucleusGO:0603919.9TGFBR1, TGFB1
4germ cell migrationGO:0083549.9TGFBR1, TGFB1
5pathway-restricted SMAD protein phosphorylationGO:0603899.8TGFBR1, TGFB1
6positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.8TGFB1, TGFBR1
7osteoblast developmentGO:0020769.7BGLAP, LRP5
8epithelial to mesenchymal transitionGO:0018379.7TGFB1, TGFBR1
9negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.6TGFB1, TGFBR1
10bone morphogenesisGO:0603499.6LRP5, ACP5
11positive regulation of protein kinase B signalingGO:0518979.5TGFB1, TGFBR1
12transforming growth factor beta receptor signaling pathwayGO:0071799.5TGFB1, TGIF1, TGFBR1
13anterior/posterior pattern specificationGO:0099529.4TGFBR1, LRP5
14response to drugGO:0424939.4BGLAP, TGIF1, TGFB1
15positive regulation of cell proliferationGO:0082849.2TGFB1, TGFBR1, LRP5
16positive regulation of transcription, DNA-templatedGO:0458939.1LRP5, TGFBR1, TGFB1
17cellular calcium ion homeostasisGO:0068749.0TMEM165, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1type II transforming growth factor beta receptor bindingGO:0051149.6TGFB1, TGFBR1

Products for genes affiliated with Camurati-Engelmann Disease

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Sources for Camurati-Engelmann Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet