CAEND
MCID: CMR001
MIFTS: 59

Camurati-Engelmann Disease (CAEND)

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

Aliases & Classifications for Camurati-Engelmann Disease

MalaCards integrated aliases for Camurati-Engelmann Disease:

Name: Camurati-Engelmann Disease 56 12 74 24 52 25 58 73 36 13 54 15 39
Progressive Diaphyseal Dysplasia 56 12 74 24 52 25 58 73 32
Diaphyseal Dysplasia 1, Progressive 56 52 73 71
Diaphyseal Dysplasia 12 25 29 6
Engelmann Disease 56 52 25 73
Ced 56 52 25 73
Pdd 56 52 25 73
Camurati-Engelmann Syndrome 25 43 71
Dpd1 56 52 73
Caend 56 73
Diaphyseal Dysplasia 1, Progressive; Dpd1 56
Progressive Diaphyseal Dysplasia; Pdd 56
Diaphyseal Osteosclerosis 25
Diaphyseal Hyperostosis 25
Engelman's Disease 12

Characteristics:

Orphanet epidemiological data:

58
camurati-engelmann disease
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

56
Miscellaneous:
waddling gait
onset in childhood
leg pain

Inheritance:
autosomal dominant


HPO:

31
camurati-engelmann disease:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


GeneReviews:

24
Penetrance Some obligate heterozygotes with an identified tgfb1 pathogenic variant have had normal radiographs [wallace et al 2004]; an exact penetrance figure is not known.

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Camurati-Engelmann Disease

Genetics Home Reference : 25 Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull. The thick limb bones can lead to bone pain and muscle weakness in the arms and legs and cause individuals with Camurati-Engelmann disease to tire quickly. Bone pain ranges from mild to severe and can increase with stress, activity, or cold weather. Leg weakness can make it difficult to stand up from a seated position and some affected individuals develop a waddling or unsteady walk. Additional limb abnormalities include joint deformities (contractures), knock knees, and flat feet (pes planus). Swelling and redness (erythema) of the limbs and an abnormal curvature of the spine can also occur. Individuals with Camurati-Engelmann disease may have an unusually thick skull, which can lead to an abnormally large head (macrocephaly) and lower jaw (mandible), a prominent forehead (frontal bossing), and bulging eyes with shallow eye sockets (ocular proptosis). These changes to the head and face become more prominent with age and are most noticeable in affected adults. In about a quarter of individuals with Camurati-Engelmann disease, the thickened skull increases pressure on the brain or compresses the spinal cord, which can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. The degree of hyperostosis varies among individuals with Camurati-Engelmann disease as does the age at which they experience their first symptoms. Other, rare features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, delayed teething (dentition), frequent cavities, delayed puberty, a shortage of red blood cells (anemia), an enlarged liver and spleen (hepatosplenomegaly), thinning of the skin, and excessively sweaty (hyperhidrotic) hands and feet.

MalaCards based summary : Camurati-Engelmann Disease, also known as progressive diaphyseal dysplasia, is related to hyperostosis and endosteal hyperostosis, autosomal dominant, and has symptoms including waddling gait, headache and pain in lower limb. An important gene associated with Camurati-Engelmann Disease is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are TGF-beta signaling pathway and PAK Pathway. Affiliated tissues include long bone, bone and eye, and related phenotypes are abnormality of the ulna and cachexia

Disease Ontology : 12 An osteosclerosis that has material basis in mutations in the TGFB1 gene which results in increased bone density located in long bone.

NIH Rare Diseases : 52 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 that symptoms begin varies greatly, but most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene and inheritance is autosomal dominant . In some cases, people have the gene mutation that causes Camurati-Engelmann disease but they never develop symptoms. In others, symptoms are present, but a gene mutation cannot be found. These cases are referred to as Camurati-Engelmann disease type 2. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition. Treatment options to control symptoms may include corticosteroid therapy, losartan as an adjuvant therapy to minimize the need for steroids, pain medications, and craniectomy to reduce intracranial pressure and headaches.

OMIM : 56 Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is the cortical thickening of the diaphyses of the long bones. Hyperostosis is bilateral and symmetrical and usually starts at the diaphyses of the femora and tibiae, expanding to the fibulae, humeri, ulnae, and radii. As the disease progresses, the metaphyses may be affected as well, but the epiphyses are spared. Sclerotic changes at the skull base may be present. The onset of the disease is usually during childhood and almost always before the age of 30. Most patients present with limb pain, muscular weakness, a waddling gait, and easy fatigability. Systemic manifestations such as anemia, leukopenia, and hepatosplenomegaly occur occasionally (summary by Janssens et al., 2006). (131300)

KEGG : 36 Camurati-Engelmann disease (CED) is an autosomal dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 LAP domain modulate TGF-beta 1 activity and leads to increased proliferation of osteoblasts in CED.

UniProtKB/Swiss-Prot : 73 Camurati-Engelmann disease: An autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision.

Wikipedia : 74 Camurati-Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes... more...

GeneReviews: NBK1156

Related Diseases for Camurati-Engelmann Disease

Diseases in the Camurati-Engelmann Disease family:

Camurati-Engelmann Disease, Type 2

Diseases related to Camurati-Engelmann Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 226)
# Related Disease Score Top Affiliating Genes
1 hyperostosis 31.0 TGFB1 SOST LRP5 ANKH
2 endosteal hyperostosis, autosomal dominant 30.5 SP7 SOST LRP5 ACP5
3 facial paralysis 30.5 TGFB1 SOST LRP5 ANKH
4 craniodiaphyseal dysplasia 30.3 SOST LRP5 ANKH
5 osteopetrosis 29.7 RUNX2 LRP5 BGLAP ACP5
6 bone disease 29.7 SP7 SOST RUNX2 LRP5 BGLAP ACP5
7 bone resorption disease 29.7 SP7 SOST RUNX2 LRP5 BGLAP ACP5
8 marfan syndrome 29.6 TGFBR2 TGFBR1 TGFB1 LTBP2
9 craniometaphyseal dysplasia, autosomal dominant 29.5 SP7 RUNX2 BGLAP ANKH
10 myeloma, multiple 29.5 SOST RUNX2 BGLAP ACP5
11 scoliosis 29.4 TGFBR2 TGFB1 RUNX2 BGLAP ACP5
12 osteoporosis 28.7 TGFBR1 TGFB1 SP7 SOST RUNX2 LRP5
13 camurati-engelmann disease, type 2 13.1
14 ghosal hematodiaphyseal dysplasia 12.3
15 cranioectodermal dysplasia 1 12.1
16 pervasive developmental disorder 11.9
17 ribbing disease 11.8
18 autism 11.7
19 childhood disintegrative disease 11.6
20 cranioectodermal dysplasia 3 11.5
21 caspase 8 deficiency 11.5
22 asperger syndrome 11.4
23 atypical autism 11.3
24 rare pervasive developmental disorder 11.3
25 classic ehlers-danlos syndrome 11.2
26 autism x-linked 1 11.2
27 autism x-linked 2 11.2
28 autism x-linked 3 11.2
29 autism x-linked 4 11.2
30 autism x-linked 5 11.2
31 autism x-linked 6 11.2
32 autism 8 11.2
33 autism 3 11.2
34 autism 6 11.2
35 autism 7 11.2
36 autism 11 11.2
37 autism 12 11.2
38 autism 13 11.2
39 autism 9 11.2
40 autism 10 11.2
41 autism 15 11.2
42 autism 16 11.2
43 autism 17 11.2
44 autism 18 11.2
45 cranioectodermal dysplasia 2 11.2
46 cranioectodermal dysplasia 4 11.2
47 dysthymic disorder 11.1
48 branchiootic syndrome 1 10.7
49 exophthalmos 10.7
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6

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



Diseases related to Camurati-Engelmann Disease

Symptoms & Phenotypes for Camurati-Engelmann Disease

Human phenotypes related to Camurati-Engelmann Disease:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0002997
2 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
3 hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100774
4 elevated aldolase level 58 31 hallmark (90%) Very frequent (99-80%) HP:0012544
5 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
6 aplasia/hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0006501
7 cortical thickening of long bone diaphyses 58 31 very rare (1%) Very frequent (99-80%) HP:0005791
8 abnormality of the humerus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003063
9 craniofacial osteosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005464
10 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
11 waddling gait 58 31 very rare (1%) Frequent (79-30%) HP:0002515
12 abnormality of tibia morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002992
13 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
14 metaphyseal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100255
15 hearing impairment 58 31 very rare (1%) Occasional (29-5%) HP:0000365
16 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
17 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
18 scoliosis 58 31 very rare (1%) Occasional (29-5%) HP:0002650
19 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
20 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
21 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
22 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
23 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
24 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
25 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
26 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
27 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
28 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
29 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
30 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
31 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
32 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
33 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
34 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
35 slender build 58 31 occasional (7.5%) Occasional (29-5%) HP:0001533
36 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
37 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
38 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
39 proptosis 58 31 very rare (1%) Occasional (29-5%) HP:0000520
40 abnormality of pelvic girdle bone morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002644
41 coxa valga 58 31 occasional (7.5%) Occasional (29-5%) HP:0002673
42 hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000135
43 abnormal subcutaneous fat tissue distribution 58 31 occasional (7.5%) Occasional (29-5%) HP:0007552
44 leukopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001882
45 elevated erythrocyte sedimentation rate 58 31 occasional (7.5%) Occasional (29-5%) HP:0003565
46 urinary retention 58 31 occasional (7.5%) Occasional (29-5%) HP:0000016
47 optic nerve compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0007807
48 muscle weakness 58 31 very rare (1%) Frequent (79-30%) HP:0001324
49 easy fatigability 31 very rare (1%) HP:0003388
50 limb pain 31 very rare (1%) HP:0009763

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
sclerosis of posterior part of vertebrae (body and arches)

Hematology:
anemia
bone marrow hypoplasia

Skeletal Skull:
sclerosis of skull base
mandible involvement

Neurologic Central Nervous System:
headaches

Head And Neck Teeth:
dental caries

Muscle Soft Tissue:
relative muscle weakness, especially in pelvic girdle
atrophic muscle fiber on biopsy

Endocrine Features:
delayed puberty

Head And Neck Eyes:
diplopia
optic nerve compression
exophthalmos

Skeletal Limbs:
narrowing of medullary canal
progressive diaphyseal widening
thickened cortices
erlenmeyer flask defect
genu varus deformity
more
Head And Neck Ears:
deafness

Growth Other:
asthenic habitus

Clinical features from OMIM:

131300

UMLS symptoms related to Camurati-Engelmann Disease:


waddling gait, headache, pain in lower limb

MGI Mouse Phenotypes related to Camurati-Engelmann Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 ACVR1 ANKH BGLAP LRP5 RUNX2 SOST
2 cardiovascular system MP:0005385 10.11 ACVR1 ANKH LRP5 LTBP2 RUNX2 TGFB1
3 homeostasis/metabolism MP:0005376 10.11 ACVR1 ANKH BGLAP LRP5 RUNX2 SOST
4 immune system MP:0005387 10.02 ACVR1 ANKH BGLAP LRP5 LTBP3 RUNX2
5 craniofacial MP:0005382 10.01 ACVR1 ANKH LRP5 LTBP3 RUNX2 TGFB1
6 mortality/aging MP:0010768 9.9 ACVR1 ANKH LRP5 LTBP2 LTBP3 RUNX2
7 limbs/digits/tail MP:0005371 9.8 ACVR1 ANKH LRP5 RUNX2 SOST SP7
8 respiratory system MP:0005388 9.61 ANKH LTBP2 LTBP3 RUNX2 SP7 TGFB1
9 skeleton MP:0005390 9.4 ACVR1 ANKH BGLAP LRP5 LTBP3 RUNX2

Drugs & Therapeutics for Camurati-Engelmann Disease

Search Clinical Trials , NIH Clinical Center for Camurati-Engelmann Disease

Cochrane evidence based reviews: camurati-engelmann syndrome

Genetic Tests for Camurati-Engelmann Disease

Genetic tests related to Camurati-Engelmann Disease:

# Genetic test Affiliating Genes
1 Diaphyseal Dysplasia 29 TGFB1

Anatomical Context for Camurati-Engelmann Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Camurati-Engelmann Disease:

19
Long Bone

MalaCards organs/tissues related to Camurati-Engelmann Disease:

40
Bone, Eye, Spleen, Brain, Spinal Cord, Liver, Skin

Publications for Camurati-Engelmann Disease

Articles related to Camurati-Engelmann Disease:

(show top 50) (show all 230)
# Title Authors PMID Year
1
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. 61 54 6 24 56
10973241 2000
2
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. 24 61 54 56
15326622 2004
3
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. 6 24 54 61
15103729 2004
4
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. 56 24 54 61
11810278 2001
5
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. 6 61 54 24
11278244 2001
6
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. 54 6 24 61
11062463 2000
7
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. 56 24 61
15894597 2006
8
Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity? 61 24 56
10748417 2000
9
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. 61 54 6
12843182 2003
10
Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome. 56 24
11260231 2001
11
Camurati-Engelmann Disease 6 61
20301335 2004
12
Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. 24 61 54
12493741 2003
13
Anticipation in progressive diaphyseal dysplasia. 56 61
10905898 2000
14
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. 56 61
10745041 2000
15
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. 61 56
10631145 2000
16
Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling. 61 56
7917133 1994
17
Engelmann's disease of bone--a systemic disorder? 61 56
7073346 1982
18
Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature. 56 61
5025487 1972
19
Corticosteroids in the treatment of Engelmann's disease: progressive diaphyseal dysplasia. 56 61
5503688 1970
20
PROGRESSIVE DIAPHYSEAL DYSPLASIA (ENGELMANN'S DISEASE). 61 56
14104304 1964
21
Progressive diaphyseal dysplasia (Engelmann's disease). 56 61
13350520 1956
22
Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease. 61 24
28842728 2017
23
Repeat Intracranial Expansion After Skull Regrowth in Hyperostotic Disease: Technical Note. 24 61
28137547 2017
24
Orthopedic Manifestations of Type I Camurati-Engelmann Disease. 24 61
28261436 2017
25
Elimination of pain and improvement of exercise capacity in Camurati-Engelmann disease with losartan. 24 61
25140400 2014
26
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation. 24 61
25099136 2014
27
Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease. 61 24
22044122 2012
28
Skull base manifestations of Camurati-Engelmann disease. 61 24
20566907 2010
29
Two distinct regions of latency-associated peptide coordinate stability of the latent transforming growth factor-beta1 complex. 61 24
20308061 2010
30
Camurati-Engelmann disease in conjunction with hypogonadism. 24 61
16638728 2005
31
Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases. 24 61
15660289 2005
32
Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease). 61 24
11452173 2001
33
Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region. 56
10843814 2000
34
Cochlear implantation for auditory rehabilitation in Camurati-Engelmann disease. 24 61
10685567 2000
35
Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease). 24 61
10457303 1999
36
Ribbing disease (multiple diaphyseal sclerosis): imaging and differential diagnosis. 56
8751682 1996
37
Engelmann's disease: a 45-year follow-up. 56
8636193 1996
38
Hereditary multiple diaphyseal sclerosis: a tumor simulator. 56
2259666 1990
39
Clinical and scintigraphic evaluation of corticosteroid treatment in a case of progressive diaphyseal dysplasia. 61 24
4057207 1985
40
Muscular changes in Engelmann's disease. 56
7436538 1980
41
Progessive diaphyseal dysplasia. Review of the literature and report of seven cases in one family. 56
4703201 1973
42
[Engelmann's disease: results of treatment with prednisone]. 56
4860416 1967
43
Camurati-Engelmann's disease affecting the jaws. 56
5223066 1966
44
Hereditary multiple diaphyseal sclerosis (ribbing). 56
13038037 1953
45
Hereditary, multiple, diaphyseal sclerosis. 56
18138014 1949
46
Progressive diaphyseal dysplasia. 61 24
18869144 1948
47
Case for Diagnosis. 56
19981348 1920
48
Ribbing disease: a case report and literature review. 24
21478664 2011
49
The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis. 61 54
19654961 2009
50
TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation. 61 54
19584867 2009

Variations for Camurati-Engelmann Disease

ClinVar genetic disease variations for Camurati-Engelmann Disease:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TGFB1 NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg)SNV Pathogenic 12528 rs104894719 19:41848114-41848114 19:41342209-41342209
2 TGFB1 NM_000660.7(TGFB1):c.653G>A (p.Arg218His)SNV Pathogenic 12529 rs104894720 19:41848134-41848134 19:41342229-41342229
3 TGFB1 NM_000660.7(TGFB1):c.667T>G (p.Cys223Gly)SNV Pathogenic 12530 rs104894722 19:41848120-41848120 19:41342215-41342215
4 TGFB1 NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys)SNV Pathogenic 12531 rs104894721 19:41848135-41848135 19:41342230-41342230
5 TGFB1 NM_000660.7(TGFB1):c.241T>C (p.Tyr81His)SNV Pathogenic 12532 rs111033611 19:41858709-41858709 19:41352804-41352804
6 TGFB1 NM_000660.7(TGFB1):c.667T>C (p.Cys223Arg)SNV Pathogenic 12533 rs104894722 19:41848120-41848120 19:41342215-41342215
7 TGFB1 NM_000660.7(TGFB1):c.30_32GCT[6] (p.Leu11_Leu13dup)short repeat Pathogenic 38892 rs281865483 19:41858911-41858912 19:41353006-41353007
8 TGFB1 NM_000660.7(TGFB1):c.466C>T (p.Arg156Cys)SNV Pathogenic 38897 rs200482214 19:41854250-41854250 19:41348345-41348345
9 TGFB1 NM_000660.7(TGFB1):c.505G>A (p.Glu169Lys)SNV Pathogenic 38898 rs281865484 19:41854211-41854211 19:41348306-41348306
10 TGFB1 NM_000660.7(TGFB1):c.664C>G (p.His222Asp)SNV Pathogenic 38900 rs281865485 19:41848123-41848123 19:41342218-41342218
11 TGFB1 NM_000660.7(TGFB1):c.667T>A (p.Cys223Ser)SNV Pathogenic 38901 rs104894722 19:41848120-41848120 19:41342215-41342215
12 TGFB1 NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys)SNV Likely pathogenic 803561 19:41854204-41854204 19:41348299-41348299
13 LRP5 NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe)SNV Uncertain significance 805882 11:68170984-68170984 11:68403516-68403516
14 TGFB1 NM_000660.7(TGFB1):c.535T>C (p.Trp179Arg)SNV Uncertain significance 634551 rs1568478752 19:41850751-41850751 19:41344846-41344846
15 TGFB1 NM_000660.7(TGFB1):c.712G>A (p.Gly238Arg)SNV Uncertain significance 803560 19:41848075-41848075 19:41342170-41342170
16 TGFB1 NM_000660.7(TGFB1):c.74G>C (p.Arg25Pro)SNV Benign 38902 rs1800471 19:41858876-41858876 19:41352971-41352971
17 TGFB1 NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile)SNV Benign 38903 rs1800472 19:41847860-41847860 19:41341955-41341955
18 TGFB1 NM_000660.6(TGFB1):c.-1347T>CSNV Benign 39302 rs1800469 19:41860296-41860296 19:41354391-41354391
19 TGFB1 NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)SNV Benign 12534 rs1800470 19:41858921-41858921 19:41353016-41353016
20 TGFB1 NM_000660.7(TGFB1):c.-171deldeletion Benign 38891 rs281865481 19:41859120-41859120 19:41353215-41353215

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

73
# Symbol AA change Variation ID SNP ID
1 TGFB1 p.Tyr81His VAR_017607
2 TGFB1 p.Arg218Cys VAR_017608
3 TGFB1 p.Arg218His VAR_017609
4 TGFB1 p.His222Asp VAR_017610
5 TGFB1 p.Cys225Arg VAR_017611
6 TGFB1 p.Cys223Gly VAR_067303
7 TGFB1 p.Cys223Arg VAR_067304

Expression for Camurati-Engelmann Disease

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

Pathways for Camurati-Engelmann Disease

Pathways related to Camurati-Engelmann Disease according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 TGFBR2 TGFBR1 TGFB1 LTBP3 LTBP2 ACVR1
2
Show member pathways
12.37 TGFBR2 TGFBR1 TGFB1 ACVR1
3
Show member pathways
12.2 TGIF1 TGFBR2 TGFBR1 TGFB1
4
Show member pathways
12.16 TGFBR1 TGFB1 LTBP3 LTBP2
5 12.14 TGFBR1 TGFB1 LRP5 ACVR1
6 12.05 TGFBR2 TGFBR1 TGFB1 LRP5
7
Show member pathways
11.97 TGFBR2 TGFBR1 TGFB1
8 11.92 TGFBR2 TGFBR1 TGFB1 ACP5
9 11.84 TGIF1 TGFBR2 TGFBR1 TGFB1 RUNX2
10 11.81 TGFBR2 TGFBR1 TGFB1
11
Show member pathways
11.78 TGFBR2 TGFBR1 TGFB1
12 11.78 SOST RUNX2 LRP5 BGLAP
13
Show member pathways
11.76 TGFBR2 TGFBR1 TGFB1
14 11.72 TGFBR2 TGFBR1 TGFB1 RUNX2
15
Show member pathways
11.68 TGFBR2 TGFBR1 TGFB1
16 11.68 TGFB1 SP7 RUNX2 BGLAP
17
Show member pathways
11.65 TGFB1 LTBP3 LTBP2
18 11.64 TGFBR2 TGFBR1 TGFB1
19 11.63 TGIF1 TGFBR2 TGFBR1 TGFB1 ACVR1
20
Show member pathways
11.62 TGFBR2 TGFBR1 TGFB1
21 11.59 TGIF1 TGFBR2 TGFBR1 TGFB1
22
Show member pathways
11.52 TGFBR2 TGFBR1 TGFB1
23 11.47 TGFBR2 TGFBR1 TGFB1
24 11.43 TGFBR2 TGFBR1 TGFB1
25 11.38 TGFBR1 RUNX2 BGLAP
26 11.34 TGFB1 RUNX2 BGLAP
27 11.15 TGFBR2 TGFBR1 TGFB1
28 11.07 TGFBR2 TGFBR1 TGFB1
29 10.99 TGFBR2 TGFBR1
30
Show member pathways
10.98 SOST LRP5
31 10.91 TGFB1 RUNX2
32
Show member pathways
10.89 TGFBR2 TGFBR1 TGFB1 ACVR1
33 10.78 TGIF1 TGFBR2 TGFBR1 TGFB1 RUNX2
34 10.77 TGFBR2 TGFBR1 TGFB1
35 10.65 TGFBR2 TGFBR1 RUNX2 LTBP2

GO Terms for Camurati-Engelmann Disease

Cellular components related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.46 TGFB1 SOST LTBP3 LTBP2
2 activin receptor complex GO:0048179 8.96 TGFBR1 ACVR1
3 receptor complex GO:0043235 8.92 TGFBR2 TGFBR1 LRP5 ACVR1

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.02 TGFBR2 TGFBR1 TGFB1 RUNX2 LRP5
2 positive regulation of transcription, DNA-templated GO:0045893 10 TGFBR1 TGFB1 SOST RUNX2 LRP5 ACVR1
3 regulation of gene expression GO:0010468 9.96 TGFBR2 TGFBR1 TGFB1 RUNX2
4 response to drug GO:0042493 9.94 TGIF1 TGFBR2 TGFB1 BGLAP
5 heart development GO:0007507 9.91 TGFBR2 TGFBR1 TGFB1 ACVR1
6 response to organic cyclic compound GO:0014070 9.85 TGFBR2 TGFB1 BGLAP
7 osteoblast differentiation GO:0001649 9.83 SP7 RUNX2 BGLAP
8 wound healing GO:0042060 9.81 TGFBR2 TGFBR1 TGFB1
9 BMP signaling pathway GO:0030509 9.8 TGFB1 RUNX2 ACVR1
10 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.8 TGFBR2 TGFBR1 TGFB1
11 peptidyl-threonine phosphorylation GO:0018107 9.78 TGFBR2 TGFBR1 ACVR1
12 ossification GO:0001503 9.78 SOST RUNX2 BGLAP ACP5
13 response to mechanical stimulus GO:0009612 9.77 TGFBR2 SOST BGLAP
14 positive regulation of osteoblast differentiation GO:0045669 9.76 RUNX2 LRP5 ACVR1
15 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.74 TGFBR1 TGFB1 ACVR1
16 positive regulation of epithelial to mesenchymal transition GO:0010718 9.73 TGFBR2 TGFBR1 TGFB1
17 skeletal system development GO:0001501 9.72 TGFBR1 RUNX2 LTBP3 BGLAP ANKH
18 ventricular septum morphogenesis GO:0060412 9.71 TGFBR2 TGFBR1 ACVR1
19 regulation of bone mineralization GO:0030500 9.69 BGLAP ANKH
20 bone morphogenesis GO:0060349 9.69 LTBP3 LRP5 ACP5
21 negative regulation of ossification GO:0030279 9.68 TGFB1 SOST
22 negative regulation of chondrocyte differentiation GO:0032331 9.68 TGFBR1 LTBP3
23 myeloid dendritic cell differentiation GO:0043011 9.68 TGFBR2 TGFB1
24 gastrulation with mouth forming second GO:0001702 9.68 LRP5 ACVR1
25 pharyngeal system development GO:0060037 9.67 TGFBR1 ACVR1
26 bone remodeling GO:0046849 9.67 LTBP3 LRP5
27 embryonic cranial skeleton morphogenesis GO:0048701 9.67 TGFBR2 TGFBR1 RUNX2
28 response to vitamin D GO:0033280 9.66 TGFB1 BGLAP
29 positive regulation of SMAD protein signal transduction GO:0060391 9.65 TGFBR1 TGFB1
30 regulation of ossification GO:0030278 9.65 RUNX2 ACVR1
31 atrioventricular valve morphogenesis GO:0003181 9.64 TGFBR2 ACVR1
32 activin receptor signaling pathway GO:0032924 9.63 TGFBR2 TGFBR1 ACVR1
33 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.61 TGFBR2 TGFBR1 ACVR1
34 germ cell migration GO:0008354 9.6 TGFBR1 TGFB1
35 common-partner SMAD protein phosphorylation GO:0007182 9.58 TGFBR2 TGFB1
36 osteoblast development GO:0002076 9.58 RUNX2 LRP5 BGLAP
37 endocardial cushion fusion GO:0003274 9.55 TGFBR2 ACVR1
38 response to cholesterol GO:0070723 9.54 TGFBR2 TGFBR1 TGFB1
39 pathway-restricted SMAD protein phosphorylation GO:0060389 9.46 TGFBR2 TGFBR1 TGFB1 ACVR1
40 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.43 TGFBR2 TGFBR1 ACVR1
41 transforming growth factor beta receptor signaling pathway GO:0007179 9.43 TGFBR2 TGFBR1 TGFB1 LTBP3 LTBP2 ACVR1
42 cellular response to growth factor stimulus GO:0071363 9.1 TGIF1 TGFBR2 TGFBR1 TGFB1 BGLAP ACVR1

Molecular functions related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.58 TGFBR2 TGFBR1 ACVR1
2 type I transforming growth factor beta receptor binding GO:0034713 9.48 TGFBR2 TGFB1
3 transforming growth factor beta-activated receptor activity GO:0005024 9.46 TGFBR2 TGFBR1
4 type II transforming growth factor beta receptor binding GO:0005114 9.43 TGFBR1 TGFB1
5 activin binding GO:0048185 9.43 TGFBR2 TGFBR1 ACVR1
6 activin receptor activity, type I GO:0016361 9.37 TGFBR1 ACVR1
7 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.33 TGFBR2 TGFBR1 ACVR1
8 transforming growth factor beta receptor activity, type I GO:0005025 9.32 TGFBR1 ACVR1
9 growth factor binding GO:0019838 9.26 TGFBR1 LTBP3 LTBP2 ACVR1
10 transforming growth factor beta binding GO:0050431 8.92 TGFBR2 TGFBR1 LTBP3 ACVR1

Sources for Camurati-Engelmann Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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