MCID: CMR001
MIFTS: 69

Camurati-Engelmann Disease malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Camurati-Engelmann Disease

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Genetics Home Reference:23 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 based summary: Camurati-Engelmann Disease, also known as progressive diaphyseal dysplasia, is related to osteopetrosis and camurati engelmann disease, type 2, and has symptoms including skeletal dysplasia, bone pain and abnormality of the femur. 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 brain, and related mouse phenotypes are embryogenesis and skeleton.

Disease Ontology:10 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

OMIM:47 Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is... (131300) more...

GeneReviews summary for ced

Aliases & Classifications for Camurati-Engelmann Disease

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Camurati-Engelmann Disease, Aliases & Descriptions:

Name: Camurati-Engelmann Disease 47 10 11 21 43 22 23 12 45 49
Progressive Diaphyseal Dysplasia 10 21 43 49
Diaphyseal Dysplasia 10 23 24
Diaphyseal Dysplasia 1, Progressive 43 62
Ced 43 23
Pdd 43 23
Pervasive Development Disorder 62
 
Camurati-Engelmann Syndrome 23
Diaphyseal Hyperostosis 23
Engelmann's Disease 23
Engelman's Disease 10
Engelmann Disease 43
Dpd1 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM47 131300
Disease Ontology10 DOID:4997
MeSH35 D003966
NCIt40 C84610
Orphanet49 1328
MESH via Orphanet36 D003966
ICD10 via Orphanet28 Q78.3
UMLS via Orphanet63 C0011989
ICD1027 Q78.3

Related Diseases for Camurati-Engelmann Disease

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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 92)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis30.1BGLAP, LRP5
2camurati engelmann disease, type 210.7
3pervasive developmental disorder10.6
4hypogonadism10.5
5pervasive developmental disorder not otherwise specified10.5
6ghosal hematodiaphyseal syndrome10.5
7atypical autism10.4
8metaphyseal dysplasia10.4
9dappled diaphyseal dysplasia10.4
10cranioectodermal dysplasia 110.4
11obesity10.3
12cerebellar ataxia10.3
13otosclerosis10.3
14amenorrhea10.3
15craniodiaphyseal dysplasia10.3
16conjunctivitis10.3
17hypothyroidism10.3
18neuropathy10.3
19papilledema10.3
20enchondroma10.3
21fibromatosis10.3
22ataxia10.3
23autistic disorder10.2
24attention deficit-hyperactivity disorder10.1
25autism 1810.1
26autism x-linked 510.1
27epsilon-trimethyllysine hydroxylase deficiency10.1
28autism susceptibility 1610.1
29autism susceptibility 1510.1
30autism susceptibility 1710.1
31autism susceptibility, x-linked 210.1
32autism susceptibility, x-linked 110.1
33autism susceptibility, x-linked 310.1
34asperger syndrome10.1
35autism spectrum disorder10.1
36ribbing disease10.1
37congenital disorder of glycosylation, type iik10.1
38craniometaphyseal dysplasia10.1
39multiple epiphyseal dysplasia10.1
40neuromuscular disease10.1
41lattice corneal dystrophy10.1TGIF1
42cranioectodermal dysplasia 210.1
43cranioectodermal dysplasia 410.1
44cranioectodermal dysplasia 310.1
45autoimmune lymphoproliferative syndrome with recurrent viral infections10.1
46osteonecrosis10.1BGLAP
47biliary atresia10.0TGFB1, TGIF1
48van buchem disease10.0LRP5, TGFB1
49sclerosteosis10.0TGFB1, LRP5
50hereditary hemorrhagic telangiectasia10.0TGFBR1, TGFB1

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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Symptoms by clinical synopsis from OMIM:

131300

Clinical features from OMIM:

131300

Symptoms:

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

HPO human phenotypes related to Camurati-Engelmann Disease:

(show all 67)
id Description Frequency HPO Source Accession
1 skeletal dysplasia hallmark (90%) HP:0002652
2 bone pain hallmark (90%) HP:0002653
3 abnormality of the femur hallmark (90%) HP:0002823
4 abnormality of the ulna hallmark (90%) HP:0002997
5 abnormality of the humerus hallmark (90%) HP:0003063
6 abnormal cortical bone morphology hallmark (90%) HP:0003103
7 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
8 increased bone mineral density hallmark (90%) HP:0011001
9 hyperostosis hallmark (90%) HP:0100774
10 abnormality of the metaphyses typical (50%) HP:0000944
11 gait disturbance typical (50%) HP:0001288
12 limitation of joint mobility typical (50%) HP:0001376
13 amyotrophy typical (50%) HP:0003202
14 abnormality of the genital system occasional (7.5%) HP:0000078
15 abnormality of the urinary system occasional (7.5%) HP:0000079
16 hearing impairment occasional (7.5%) HP:0000365
17 glaucoma occasional (7.5%) HP:0000501
18 proptosis occasional (7.5%) HP:0000520
19 optic atrophy occasional (7.5%) HP:0000648
20 carious teeth occasional (7.5%) HP:0000670
21 delayed eruption of teeth occasional (7.5%) HP:0000684
22 acrocyanosis occasional (7.5%) HP:0001063
23 disproportionate tall stature occasional (7.5%) HP:0001519
24 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
25 splenomegaly occasional (7.5%) HP:0001744
26 pes planus occasional (7.5%) HP:0001763
27 leukopenia occasional (7.5%) HP:0001882
28 anemia occasional (7.5%) HP:0001903
29 abnormal facial shape occasional (7.5%) HP:0001999
30 frontal bossing occasional (7.5%) HP:0002007
31 anorexia occasional (7.5%) HP:0002039
32 neurological speech impairment occasional (7.5%) HP:0002167
33 hepatomegaly occasional (7.5%) HP:0002240
34 incoordination occasional (7.5%) HP:0002311
35 scoliosis occasional (7.5%) HP:0002650
36 kyphosis occasional (7.5%) HP:0002808
37 genu valgum occasional (7.5%) HP:0002857
38 abnormality of the hip bone occasional (7.5%) HP:0003272
39 hyperlordosis occasional (7.5%) HP:0003307
40 feeding difficulties in infancy occasional (7.5%) HP:0008872
41 abnormality of adipose tissue occasional (7.5%) HP:0009124
42 facial palsy occasional (7.5%) HP:0010628
43 autosomal dominant inheritance HP:0000006
44 mandibular prognathia HP:0000303
45 hearing impairment HP:0000365
46 proptosis HP:0000520
47 diplopia HP:0000651
48 carious teeth HP:0000670
49 delayed puberty HP:0000823
50 decreased subcutaneous fat HP:0001002
51 muscle weakness HP:0001324
52 slender build HP:0001533
53 anemia HP:0001903
54 headache HP:0002315
55 waddling gait HP:0002515
56 scoliosis HP:0002650
57 sclerosis of skull base HP:0002694
58 genu valgum HP:0002857
59 diaphyseal sclerosis HP:0003034
60 amyotrophy HP:0003202
61 easy fatigability HP:0003388
62 juvenile onset HP:0003621
63 poor appetite HP:0004396
64 bone marrow hypocellularity HP:0005528
65 cortical thickening of long bone diaphyses HP:0005791
66 optic nerve compression HP:0007807
67 limb pain HP:0009763

Drugs & Therapeutics for Camurati-Engelmann Disease

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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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Genetic tests related to Camurati-Engelmann Disease:

id Genetic test Affiliating Genes
1 Camurati-Engelmann Disease22 TGFB1
2 Diaphyseal Dysplasia24

Anatomical Context for Camurati-Engelmann Disease

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MalaCards organs/tissues related to Camurati-Engelmann Disease:

33
Bone, Brain, Bone marrow, Liver

FMA organs/tissues related to Camurati-Engelmann Disease:

16
Long bone

Animal Models for Camurati-Engelmann Disease or affiliated genes

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MGI Mouse Phenotypes related to Camurati-Engelmann Disease:

37
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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Articles related to Camurati-Engelmann Disease:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Camurati-engelmann disease association with hypogonadism and primary hypothyroidism. (25389497)
2014
2
Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance. (25145018)
2014
3
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation. (25099136)
2014
4
Elimination of pain and improvement of exercise capacity in camurati-engelmann disease with losartan. (25140400)
2014
5
Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred. (24154985)
2013
6
Anesthesia for a child with Camurati-Engelmann disease. (23577825)
2013
7
Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report. (23368730)
2013
8
MeniA"re-like syndrome in Camurati-Engelmann disease. (23943989)
2013
9
Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. (23824952)
2013
10
Camurati-Engelmann disease--a rare cause of bone pain. (22372177)
2012
11
Papilledema with Camurati-Engelmann disease instigating loss of ganglion cell complex thickness. (21331705)
2011
12
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
13
Unusual association between enchondroma and Camurati-Engelmann disease: a case report. (19943817)
2010
14
Skull base manifestations of Camurati-Engelmann disease. (20566907)
2010
15
Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. (19214502)
2009
16
A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease. (18095072)
2008
17
Camurati-Engelmann disease on a 99mTc-HMDP bone scan. (18690431)
2008
18
A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease. (17433803)
2007
19
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease. (17206397)
2007
20
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. (15894597)
2006
21
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family. (15959620)
2005
22
Camurati-Engelmann disease--a case report and literature review. (15827032)
2005
23
Juvenile vertebrobasilar ischaemic stroke in a patient with Camurati-Engelmann disease. (16127272)
2005
24
Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases. (15660289)
2005
25
Mesenteric fibromatosis in a patient with Camurati-Engelmann disease. A case report and literature review. (16457156)
2005
26
Internal auditory canal decompression and cochlear implantation in Camurati-Engelmann disease. (15577805)
2004
27
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
28
Camurati-Engelmann disease. Review of radioclinical features. (12846694)
2003
29
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. (12843182)
2003
30
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
31
Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease). (11452173)
2001
32
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. (11810278)
2001
33
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
34
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. (10973241)
2000
35
Cochlear implantation for auditory rehabilitation in Camurati-Engelmann disease. (10685567)
2000
36
Genetic homogeneity of the Camurati-Engelmann disease. (11005150)
2000
37
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. (10631145)
2000
38
Mutations in the gene encoding the latency-associated peptide of TGF- beta 1 cause Camurati-Engelmann disease. (11062463)
2000
39
Pamidronate in the treatment of progressive diaphyseal dysplasia (Camurati-Engelmann disease) (10342062)
1999
40
Camurati-Engelmann disease. A case report. (10602980)
1999
41
Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease). (10457303)
1999
42
Camurati-Engelmann disease: a late and sporadic case with metaphyseal involvement. (9933401)
1999
43
Bone scan in Camurati-Engelmann disease. (9580522)
1998
44
Camurati-Engelmann disease: two case reports describing metadiaphyseal dysplasia associated with cerebellar ataxia. (9661085)
1998
45
Camurati-Engelmann disease. Effects of corticosteroids. (9701854)
1998
46
Biochemical markers of bone turnover in Camurati-Engelmann disease: a report on four cases in one family. (9192513)
1997
47
Camurati-Engelmann disease presenting as 'juvenile otosclerosis'. (8894811)
1996
48
Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling. (7917133)
1994
49
MR of multiple cranial neuropathies in a patient with camurati-engelmann disease: case report. (2058515)
1991
50
Camurati-Engelmann disease with recurrent bone marrow hypoplasia. (4055012)
1985

Variations for Camurati-Engelmann Disease

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

64
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:

7 (show all 12)
id Gene Variation 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.29C> T (p.Pro10Leu)single nucleotide variantrisk factorrs1800470GRCh37Chr 19, 41858921: 41858921
8TGFB1NM_000660.5(TGFB1): c.30_38dupGCTGCTGCT (p.Leu13_Pro14insLeuLeuLeu)duplicationPathogenicrs281865483GRCh37Chr 19, 41858912: 41858920
9TGFB1NM_000660.5(TGFB1): c.466C> T (p.Arg156Cys)single nucleotide variantPathogenicrs200482214GRCh37Chr 19, 41854250: 41854250
10TGFB1NM_000660.5(TGFB1): c.505G> A (p.Glu169Lys)single nucleotide variantPathogenicrs281865484GRCh37Chr 19, 41854211: 41854211
11TGFB1NM_000660.5(TGFB1): c.664C> G (p.His222Asp)single nucleotide variantPathogenicrs281865485GRCh37Chr 19, 41848123: 41848123
12TGFB1NM_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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Search GEO for disease gene expression data for Camurati-Engelmann Disease.

Pathways for genes affiliated with Camurati-Engelmann Disease

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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
29.6LRP5, TGFB1
3
Show member pathways
9.6TGFBR1, TGFB1
4
Show member pathways
9.6TGFBR1, TGFB1
59.6TGFBR1, TGFB1
6
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation60
9.6TGFBR1, TGFB1
79.6TGFBR1, TGFB1
8
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
9.6TGFBR1, TGFB1
99.6TGFBR1, TGFB1
109.6TGFBR1, TGFB1
119.6TGFBR1, TGFB1
12
Show member pathways
ALK1 pathway38
9.6TGFBR1, TGFB1
139.6TGFBR1, TGFB1
149.6TGFBR1, TGFB1
15
Show member pathways
9.6TGFBR1, TGFB1
16
Show member pathways
9.6TGFBR1, TGFB1
17
Show member pathways
9.6TGFB1, TGFBR1
189.6TGFB1, TGFBR1
199.6TGFB1, TGFBR1
20
Show member pathways
9.6TGFB1, TGFBR1
219.6TGFB1, TGFBR1
229.5BGLAP, TGFBR1
239.5TGFB1, ACP5
24
Show member pathways
9.2TGFBR1, TGIF1, TGFB1
259.2TGFBR1, TGIF1, TGFB1
269.2TGFBR1, TGIF1, TGFB1
279.1LRP5, TGFB1, TGFBR1
289.0TGFB1, TGFBR1, ACP5
298.5ACP5, TGFBR1, TGIF1, TGFB1

Compounds for genes affiliated with Camurati-Engelmann Disease

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

(show all 41)
idCompoundScoreTop Affiliating Genes
1cmdb74510.1TGFB1, TGIF1
2alizarin red s4510.0TGFB1, BGLAP
3ns 39845 6110.9BGLAP, TGFB1
4alginate459.9BGLAP, TGFB1
5pmma459.8ACP5, TGFB1
64-hydroxytamoxifen459.8TGIF1, TGFB1
7clonidine45 51 30 1312.8TGFB1, BGLAP
8tartrate459.8ACP5, BGLAP
9clodronate45 51 1311.7ACP5, BGLAP
10tibolone459.7ACP5, BGLAP
11titanium459.7ACP5, BGLAP
12deoxypyridinoline459.7BGLAP, ACP5
1325-hydroxyvitamin d459.6ACP5, BGLAP
14phosphorus459.6BGLAP, ACP5
15tamoxifen45 51 30 1312.5TGFB1, TGIF1, BGLAP
16tgf beta1459.5TGFBR1, TGIF1, TGFB1
17ribonucleic acid459.5TGFBR1, TGIF1, TGFB1
18hydroxyproline45 26 1311.4ACP5, TGFB1, BGLAP
19tetracycline45 1310.4BGLAP, TGFB1, ACP5
20hydroxyapatite459.4BGLAP, TGIF1, ACP5
21polyethylene glycol459.4ACP5, TGFB1
22estradiol45 26 1311.2ACP5, TGIF1, BGLAP
23rapamycin459.2ACP5, TGIF1, TGFBR1
24cyclosporin a45 30 6111.2ACP5, TGFB1, BGLAP
25oligonucleotide459.2TGFB1, TGIF1, TGFBR1
26dihydrotestosterone45 30 26 1312.1BGLAP, TGFBR1, TGIF1, TGFB1
27azathioprine45 3 51 1312.1ACP5, BGLAP
28vegf459.1BGLAP, TGFBR1, TGIF1, TGFB1
29procollagen459.0ACP5, TGFB1, TGIF1, BGLAP
30retinoic acid45 2610.0BGLAP, TGFBR1, TGIF1, TGFB1
31calcitriol45 61 26 1312.0ACP5, TGFB1, TGIF1, BGLAP
32pge2459.0ACP5, TGFB1, TGIF1, BGLAP
33creatinine459.0BGLAP, TGIF1, TGFB1, ACP5
34h2o2459.0BGLAP, TGIF1, ACP5
35paraffin458.9ACP5, TGFB1, TGFBR1, BGLAP
36heparin45 30 26 1311.8ACP5, TGIF1, TGFBR1, BGLAP
37serine458.8TGFB1, TGIF1, TGFBR1, BGLAP
381,25 dihydroxy vitamin d3458.5ACP5, TGFB1, TGIF1, BGLAP, LRP5
39vitamin d458.5LRP5, BGLAP, TGIF1, TGFB1, ACP5
40dexamethasone45 51 30 1311.5BGLAP, TGFBR1, TGIF1, TGFB1, ACP5
41estrogen458.0LRP5, BGLAP, TGFBR1, TGIF1, TGFB1, ACP5

GO Terms for genes affiliated with Camurati-Engelmann Disease

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

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:00432359.4TGFBR1, LRP5

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1response to vitamin DGO:00332809.9TGFB1, BGLAP
2response to cholesterolGO:00707239.9TGFBR1, TGFB1
3positive regulation of SMAD protein import into nucleusGO:00603919.9TGFB1, TGFBR1
4germ cell migrationGO:00083549.9TGFBR1, TGFB1
5pathway-restricted SMAD protein phosphorylationGO:00603899.8TGFBR1, TGFB1
6positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.8TGFB1, TGFBR1
7osteoblast developmentGO:00020769.7LRP5, BGLAP
8epithelial to mesenchymal transitionGO:00018379.7TGFB1, TGFBR1
9negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.6TGFBR1, TGFB1
10bone morphogenesisGO:00603499.6LRP5, ACP5
11positive regulation of protein kinase B signalingGO:00518979.5TGFBR1, TGFB1
12transforming growth factor beta receptor signaling pathwayGO:00071799.5TGFBR1, TGIF1, TGFB1
13anterior/posterior pattern specificationGO:00099529.4LRP5, TGFBR1
14response to drugGO:00424939.4BGLAP, TGIF1, TGFB1
15positive regulation of cell proliferationGO:00082849.2TGFB1, TGFBR1, LRP5
16positive regulation of transcription, DNA-templatedGO:00458939.1TGFB1, TGFBR1, LRP5
17cellular calcium ion homeostasisGO:00068749.0TGFB1, TMEM165

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

idNameGO IDScoreTop Affiliating Genes
1type II transforming growth factor beta receptor bindingGO:00051149.6TGFB1, TGFBR1

Products for genes affiliated with Camurati-Engelmann Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Camurati-Engelmann Disease

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet