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 57 12 73 25 20 43 58 72 36 13 54 15 39
Progressive Diaphyseal Dysplasia 57 12 73 25 20 43 58 72 32
Diaphyseal Dysplasia 1, Progressive 57 20 72 70
Diaphyseal Dysplasia 12 43 29 6
Engelmann Disease 57 20 43 72
Ced 57 20 43 72
Pdd 57 20 43 72
Camurati-Engelmann Syndrome 43 44 70
Dpd1 57 20 72
Caend 57 72
Diaphyseal Dysplasia 1, Progressive; Dpd1 57
Progressive Diaphyseal Dysplasia; Pdd 57
Diaphyseal Osteosclerosis 43
Diaphyseal Hyperostosis 43
Engelman's Disease 12

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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:

25
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

MedlinePlus Genetics : 43 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 facial paralysis, 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.

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 253)
# Related Disease Score Top Affiliating Genes
1 hyperostosis 31.4 TGFB1 LRP5 ANKH
2 facial paralysis 30.9 TGFB1 LRP5 ANKH
3 craniodiaphyseal dysplasia 30.5 LRP5 ANKH
4 marfan syndrome 29.9 TGFBR2 TGFBR1 TGFB1 LTBP2
5 ankylosis 29.6 TGFB1 SP7 RUNX2 BGLAP ANKH
6 bone resorption disease 29.3 TNFRSF11A SP7 RUNX2 LRP5 BGLAP ACP5
7 bone disease 29.1 TNFRSF11A SP7 RUNX2 LRP5 BGLAP ANKH
8 scoliosis 29.0 TNFRSF11A TGFBR2 TGFB1 RUNX2 BGLAP ACP5
9 osteopetrosis 28.9 TNFRSF11A RUNX2 LRP5 BGLAP ACP5
10 osteoporosis 28.5 TNFRSF11A TGFBR1 TGFB1 SP7 RUNX2 LRP5
11 craniometaphyseal dysplasia, autosomal dominant 28.5 TNFRSF11A SP7 RUNX2 BGLAP ANKH ACP5
12 camurati-engelmann disease, type 2 11.9
13 ghosal hematodiaphyseal dysplasia 11.7
14 cranioectodermal dysplasia 11.5
15 ribbing disease 11.4
16 atypical autism 11.4
17 pseudodiastrophic dysplasia 11.4
18 pervasive developmental disorder 11.3
19 autism 11.1
20 childhood disintegrative disease 11.0
21 autism x-linked 1 11.0
22 autism x-linked 2 11.0
23 autism x-linked 3 11.0
24 autism x-linked 4 11.0
25 autism x-linked 5 11.0
26 autism x-linked 6 11.0
27 autism 8 11.0
28 autism 3 11.0
29 autism 6 11.0
30 autism 7 11.0
31 autism 11 11.0
32 autism 12 11.0
33 autism 13 11.0
34 autism 9 11.0
35 autism 10 11.0
36 autism 15 11.0
37 autism 16 11.0
38 autism 17 11.0
39 autism 18 11.0
40 cranioectodermal dysplasia 3 11.0
41 rare pervasive developmental disorder 10.9
42 cranioectodermal dysplasia 4 10.9
43 asperger syndrome 10.9
44 cranioectodermal dysplasia 1 10.9
45 cranioectodermal dysplasia 2 10.9
46 parkinsonism 10.8
47 dysthymic disorder 10.8
48 branchiootic syndrome 1 10.5
49 exophthalmos 10.5
50 hypogonadism 10.4

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 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
16 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
17 scoliosis 58 31 very rare (1%) Occasional (29-5%) HP:0002650
18 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
19 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
20 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
21 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
22 hearing impairment 58 31 very rare (1%) Occasional (29-5%) HP:0000365
23 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
24 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
25 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
26 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
27 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
28 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
29 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
30 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
31 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
32 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
33 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
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 proptosis 58 31 very rare (1%) Occasional (29-5%) HP:0000520
39 abnormality of pelvic girdle bone morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002644
40 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
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®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
sclerosis of posterior part of vertebrae (body and arches)

Endocrine Features:
delayed puberty

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

Head And Neck Eyes:
diplopia
optic nerve compression
exophthalmos

Hematology:
anemia
bone marrow hypoplasia

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 (Updated 05-Apr-2021)

UMLS symptoms related to Camurati-Engelmann Disease:


waddling gait; headache; pain in lower limb

MGI Mouse Phenotypes related to Camurati-Engelmann Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 ANKH BGLAP LRP5 RUNX2 SP7 TGFB1
2 immune system MP:0005387 10.02 ANKH BGLAP LRP5 LTBP3 RUNX2 TGFB1
3 craniofacial MP:0005382 9.97 ANKH LRP5 LTBP3 RUNX2 TGFB1 TGFBR2
4 mortality/aging MP:0010768 9.9 ANKH LRP5 LTBP2 LTBP3 RUNX2 SP7
5 limbs/digits/tail MP:0005371 9.73 ANKH LRP5 RUNX2 SP7 TGIF1 TNFRSF11A
6 respiratory system MP:0005388 9.65 ANKH LTBP2 LTBP3 RUNX2 SP7 TGFB1
7 skeleton MP:0005390 9.36 ANKH BGLAP LRP5 LTBP3 RUNX2 SP7

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

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, Spinal Cord, Skeletal Muscle, Bone Marrow, T Cells

Publications for Camurati-Engelmann Disease

Articles related to Camurati-Engelmann Disease:

(show top 50) (show all 238)
# Title Authors PMID Year
1
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. 57 61 25 54 6
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. 57 25 54 61
15326622 2004
3
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. 61 54 6 25
15103729 2004
4
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. 57 54 61 25
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. 61 25 6 54
11278244 2001
6
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. 61 54 25 6
11062463 2000
7
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. 25 61 57
15894597 2006
8
Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity? 61 25 57
10748417 2000
9
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. 54 6 61
12843182 2003
10
Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome. 25 57
11260231 2001
11
Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. 25 61 54
12493741 2003
12
Anticipation in progressive diaphyseal dysplasia. 61 57
10905898 2000
13
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. 61 57
10745041 2000
14
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. 57 61
10631145 2000
15
Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling. 61 57
7917133 1994
16
Engelmann's disease of bone--a systemic disorder? 57 61
7073346 1982
17
Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature. 57 61
5025487 1972
18
Corticosteroids in the treatment of Engelmann's disease: progressive diaphyseal dysplasia. 61 57
5503688 1970
19
PROGRESSIVE DIAPHYSEAL DYSPLASIA (ENGELMANN'S DISEASE). 61 57
14104304 1964
20
Progressive diaphyseal dysplasia (Engelmann's disease). 57 61
13350520 1956
21
Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease. 25 61
28842728 2017
22
Repeat Intracranial Expansion After Skull Regrowth in Hyperostotic Disease: Technical Note. 61 25
28137547 2017
23
Orthopedic Manifestations of Type I Camurati-Engelmann Disease. 61 25
28261436 2017
24
Elimination of pain and improvement of exercise capacity in Camurati-Engelmann disease with losartan. 61 25
25140400 2014
25
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation. 25 61
25099136 2014
26
Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease. 61 25
22044122 2012
27
Skull base manifestations of Camurati-Engelmann disease. 25 61
20566907 2010
28
Two distinct regions of latency-associated peptide coordinate stability of the latent transforming growth factor-beta1 complex. 25 61
20308061 2010
29
Camurati-Engelmann disease in conjunction with hypogonadism. 61 25
16638728 2005
30
Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases. 25 61
15660289 2005
31
Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease). 25 61
11452173 2001
32
Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region. 57
10843814 2000
33
Cochlear implantation for auditory rehabilitation in Camurati-Engelmann disease. 61 25
10685567 2000
34
Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease). 25 61
10457303 1999
35
Ribbing disease (multiple diaphyseal sclerosis): imaging and differential diagnosis. 57
8751682 1996
36
Engelmann's disease: a 45-year follow-up. 57
8636193 1996
37
Hereditary multiple diaphyseal sclerosis: a tumor simulator. 57
2259666 1990
38
Clinical and scintigraphic evaluation of corticosteroid treatment in a case of progressive diaphyseal dysplasia. 61 25
4057207 1985
39
Muscular changes in Engelmann's disease. 57
7436538 1980
40
Progessive diaphyseal dysplasia. Review of the literature and report of seven cases in one family. 57
4703201 1973
41
[Engelmann's disease: results of treatment with prednisone]. 57
4860416 1967
42
Camurati-Engelmann's disease affecting the jaws. 57
5223066 1966
43
Hereditary multiple diaphyseal sclerosis (ribbing). 57
13038037 1953
44
Hereditary, multiple, diaphyseal sclerosis. 57
18138014 1949
45
Progressive diaphyseal dysplasia. 61 25
18869144 1948
46
Case for Diagnosis. 57
19981348 1920
47
Ribbing disease: a case report and literature review. 25
21478664 2011
48
The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis. 61 54
19654961 2009
49
TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation. 54 61
19584867 2009
50
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease. 61 54
17206397 2007

Variations for Camurati-Engelmann Disease

ClinVar genetic disease variations for Camurati-Engelmann Disease:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFB1 NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg) SNV Pathogenic 12528 rs104894719 GRCh37: 19:41848114-41848114
GRCh38: 19:41342209-41342209
2 TGFB1 NM_000660.7(TGFB1):c.653G>A (p.Arg218His) SNV Pathogenic 12529 rs104894720 GRCh37: 19:41848134-41848134
GRCh38: 19:41342229-41342229
3 TGFB1 NM_000660.7(TGFB1):c.667T>G (p.Cys223Gly) SNV Pathogenic 12530 rs104894722 GRCh37: 19:41848120-41848120
GRCh38: 19:41342215-41342215
4 TGFB1 NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) SNV Pathogenic 12531 rs104894721 GRCh37: 19:41848135-41848135
GRCh38: 19:41342230-41342230
5 TGFB1 NM_000660.7(TGFB1):c.241T>C (p.Tyr81His) SNV Pathogenic 12532 rs111033611 GRCh37: 19:41858709-41858709
GRCh38: 19:41352804-41352804
6 TGFB1 NM_000660.7(TGFB1):c.667T>C (p.Cys223Arg) SNV Pathogenic 12533 rs104894722 GRCh37: 19:41848120-41848120
GRCh38: 19:41342215-41342215
7 TGFB1 NM_000660.7(TGFB1):c.466C>T (p.Arg156Cys) SNV Pathogenic 38897 rs200482214 GRCh37: 19:41854250-41854250
GRCh38: 19:41348345-41348345
8 TGFB1 NM_000660.7(TGFB1):c.505G>A (p.Glu169Lys) SNV Pathogenic 38898 rs281865484 GRCh37: 19:41854211-41854211
GRCh38: 19:41348306-41348306
9 TGFB1 NM_000660.7(TGFB1):c.664C>G (p.His222Asp) SNV Pathogenic 38900 rs281865485 GRCh37: 19:41848123-41848123
GRCh38: 19:41342218-41342218
10 TGFB1 NM_000660.7(TGFB1):c.667T>A (p.Cys223Ser) SNV Pathogenic 38901 rs104894722 GRCh37: 19:41848120-41848120
GRCh38: 19:41342215-41342215
11 TGFB1 NM_000660.7(TGFB1):c.30_32GCT[6] (p.Leu11_Leu13dup) Microsatellite Pathogenic 38892 rs281865483 GRCh37: 19:41858911-41858912
GRCh38: 19:41353006-41353007
12 TGFB1 NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys) SNV Likely pathogenic 803561 rs1599893542 GRCh37: 19:41854204-41854204
GRCh38: 19:41348299-41348299
13 LRP5 NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe) SNV Uncertain significance 805882 rs1591284438 GRCh37: 11:68170984-68170984
GRCh38: 11:68403516-68403516
14 TGFB1 NM_000660.7(TGFB1):c.535T>C (p.Trp179Arg) SNV Uncertain significance 634551 rs1568478752 GRCh37: 19:41850751-41850751
GRCh38: 19:41344846-41344846
15 TGFB1 NM_000660.7(TGFB1):c.712G>A (p.Gly238Arg) SNV Uncertain significance 803560 rs1454205854 GRCh37: 19:41848075-41848075
GRCh38: 19:41342170-41342170
16 TGFB1 NM_000660.6(TGFB1):c.-1347T>C SNV Benign 39302 rs1800469 GRCh37: 19:41860296-41860296
GRCh38: 19:41354391-41354391
17 TGFB1 NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) SNV Benign 12534 rs1800470 GRCh37: 19:41858921-41858921
GRCh38: 19:41353016-41353016
18 TGFB1 NM_000660.7(TGFB1):c.-171del Deletion Benign 38891 rs281865481 GRCh37: 19:41859120-41859120
GRCh38: 19:41353215-41353215
19 TGFB1 NM_000660.7(TGFB1):c.74G>C (p.Arg25Pro) SNV Benign 38902 rs1800471 GRCh37: 19:41858876-41858876
GRCh38: 19:41352971-41352971
20 TGFB1 NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile) SNV Benign 38903 rs1800472 GRCh37: 19:41847860-41847860
GRCh38: 19:41341955-41341955

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

72
# 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 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 TNFRSF11A TGFBR2 TGFBR1 TGFB1 LTBP3 LTBP2
2
Show member pathways
12.18 TGIF1 TGFBR2 TGFBR1 TGFB1
3
Show member pathways
12.15 TGFBR1 TGFB1 LTBP3 LTBP2
4
Show member pathways
12.05 TGFBR1 TGFB1 LRP5
5 12.04 TGFBR2 TGFBR1 TGFB1
6 12.04 TGFBR2 TGFBR1 TGFB1
7 12.04 TGFBR2 TGFBR1 TGFB1 LRP5
8
Show member pathways
11.97 TGFBR2 TGFBR1 TGFB1
9 11.84 RUNX2 LRP5 BGLAP
10 11.8 TGFBR2 TGFBR1 TGFB1
11 11.78 TGIF1 TGFBR2 TGFBR1 TGFB1 RUNX2
12 11.77 TNFRSF11A TGFB1 ACP5
13
Show member pathways
11.76 TGFBR2 TGFBR1 TGFB1
14
Show member pathways
11.75 TGFBR2 TGFBR1 TGFB1
15 11.74 TGFBR2 TGFBR1 TGFB1 RUNX2
16 11.71 TGFB1 SP7 RUNX2 BGLAP
17 11.68 TGIF1 TGFBR2 TGFBR1 TGFB1
18
Show member pathways
11.67 TGFBR2 TGFBR1 TGFB1
19 11.66 TNFRSF11A TGFBR2 TGFBR1 TGFB1 ACP5
20
Show member pathways
11.64 TGFB1 LTBP3 LTBP2
21 11.62 TGFBR2 TGFBR1 TGFB1
22
Show member pathways
11.61 TGFBR2 TGFBR1 TGFB1
23 11.58 TGIF1 TGFBR2 TGFBR1 TGFB1
24
Show member pathways
11.52 TGFBR2 TGFBR1 TGFB1
25 11.45 TGFBR2 TGFBR1 TGFB1
26 11.42 TGFBR2 TGFBR1 TGFB1
27 11.36 TGFB1 RUNX2 BGLAP
28 11.28 TNFRSF11A TGFBR1 RUNX2 BGLAP
29 11.16 TGFBR2 TGFBR1 TGFB1
30
Show member pathways
11.1 TGFBR2 TGFBR1 TGFB1
31 11.07 TGFBR2 TGFBR1 TGFB1
32 10.98 TGFBR2 TGFBR1
33 10.91 TGFB1 RUNX2
34 10.85 TNFRSF11A ACP5
35 10.78 TGIF1 TGFBR2 TGFBR1 TGFB1 RUNX2
36 10.77 TGFBR2 TGFBR1 TGFB1
37 10.65 TGFBR2 TGFBR1 RUNX2 LTBP2

GO Terms for Camurati-Engelmann Disease

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.91 TNFRSF11A TGFBR2 TGFBR1 TGFB1 RUNX2 LRP5
2 regulation of gene expression GO:0010468 9.88 TGFBR2 TGFBR1 TGFB1 RUNX2
3 response to drug GO:0042493 9.86 TGIF1 TGFBR2 TGFB1 BGLAP
4 response to organic cyclic compound GO:0014070 9.81 TGFBR2 TGFB1 BGLAP
5 osteoblast differentiation GO:0001649 9.75 SP7 RUNX2 BGLAP
6 wound healing GO:0042060 9.74 TGFBR2 TGFBR1 TGFB1
7 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.72 TGFBR2 TGFBR1 TGFB1
8 ossification GO:0001503 9.71 TNFRSF11A RUNX2 BGLAP ACP5
9 positive regulation of epithelial to mesenchymal transition GO:0010718 9.67 TGFBR2 TGFBR1 TGFB1
10 regulation of bone mineralization GO:0030500 9.65 BGLAP ANKH
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.65 TGFBR2 LRP5
12 embryonic cranial skeleton morphogenesis GO:0048701 9.65 TGFBR2 TGFBR1 RUNX2
13 negative regulation of chondrocyte differentiation GO:0032331 9.64 TGFBR1 LTBP3
14 positive regulation of bone resorption GO:0045780 9.64 TNFRSF11A LTBP3
15 myeloid dendritic cell differentiation GO:0043011 9.63 TGFBR2 TGFB1
16 response to radiation GO:0009314 9.63 TNFRSF11A TGFB1 LRP5
17 activin receptor signaling pathway GO:0032924 9.62 TGFBR2 TGFBR1
18 lymph node development GO:0048535 9.62 TNFRSF11A TGFB1
19 bone remodeling GO:0046849 9.61 LTBP3 LRP5
20 response to vitamin D GO:0033280 9.61 TGFB1 BGLAP
21 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.6 TGFBR2 TGFBR1
22 positive regulation of SMAD protein signal transduction GO:0060391 9.59 TGFBR1 TGFB1
23 skeletal system development GO:0001501 9.55 TGFBR1 RUNX2 LTBP3 BGLAP ANKH
24 germ cell migration GO:0008354 9.54 TGFBR1 TGFB1
25 osteoblast development GO:0002076 9.54 RUNX2 LRP5 BGLAP
26 common-partner SMAD protein phosphorylation GO:0007182 9.52 TGFBR2 TGFB1
27 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.51 TGFBR2 TGFBR1
28 pathway-restricted SMAD protein phosphorylation GO:0060389 9.5 TGFBR2 TGFBR1 TGFB1
29 response to cholesterol GO:0070723 9.43 TGFBR2 TGFBR1 TGFB1
30 transforming growth factor beta receptor signaling pathway GO:0007179 9.35 TGFBR2 TGFBR1 TGFB1 LTBP3 LTBP2
31 cellular response to growth factor stimulus GO:0071363 9.02 TGIF1 TGFBR2 TGFBR1 TGFB1 BGLAP

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

# Name GO ID Score Top Affiliating Genes
1 activin binding GO:0048185 9.43 TGFBR2 TGFBR1
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.4 TGFBR2 TGFBR1
3 type I transforming growth factor beta receptor binding GO:0034713 9.37 TGFBR2 TGFB1
4 growth factor binding GO:0019838 9.33 TGFBR1 LTBP3 LTBP2
5 transforming growth factor beta-activated receptor activity GO:0005024 9.32 TGFBR2 TGFBR1
6 type II transforming growth factor beta receptor binding GO:0005114 9.26 TGFBR1 TGFB1
7 type III transforming growth factor beta receptor binding GO:0034714 8.96 TGFBR2 TGFB1
8 transforming growth factor beta binding GO:0050431 8.8 TGFBR2 TGFBR1 LTBP3

Sources for Camurati-Engelmann Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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