CAEND
MCID: CMR001
MIFTS: 60

Camurati-Engelmann Disease (CAEND)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Camurati-Engelmann Disease

MalaCards integrated aliases for Camurati-Engelmann Disease:

Name: Camurati-Engelmann Disease 57 11 24 19 42 58 75 73 12 53 14 38
Progressive Diaphyseal Dysplasia 57 11 24 19 42 58 75 73 31
Diaphyseal Dysplasia 1, Progressive 57 19 73 71
Diaphyseal Dysplasia 11 42 28 5
Engelmann Disease 57 19 42 73
Ced 57 19 42 73
Pdd 57 19 42 73
Camurati-Engelmann Syndrome 42 43 71
Dpd1 57 19 73
Caend 57 73
Diaphyseal Osteosclerosis 42
Diaphyseal Hyperostosis 42
Engelman's Disease 11

Characteristics:


Inheritance:

Autosomal dominant 58 57

Age Of Onset:

Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
waddling gait
onset in childhood
leg pain


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

MedlinePlus Genetics: 42 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 ghosal hematodiaphyseal dysplasia and craniodiaphyseal dysplasia, 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 Human Embryonic Stem Cell Pluripotency and Signaling by TGFB family members. Affiliated tissues include long bone, bone and spinal cord, and related phenotypes are cachexia and hyperostosis

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 08-Dec-2022)

GARD: 19 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. Camurati-Engelmann disease is caused by a genetic change in the TGFB1 gene and inheritance is autosomal dominant. In some cases, people have the genetic change that causes Camurati-Engelmann disease but they never develop symptoms. In others, symptoms are present, but a genetic change cannot be found. These cases are referred to as Camurati-Engelmann disease type 2.

Orphanet: 58 Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 An osteosclerosis that has material basis in mutations in the TGFB1 gene which results in increased bone density located in long bone.

Wikipedia: 75 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 315)
# Related Disease Score Top Affiliating Genes
1 ghosal hematodiaphyseal dysplasia 32.2 TNFRSF11B TBXAS1
2 craniodiaphyseal dysplasia, autosomal dominant 30.2 SOST LRP5
3 marfan syndrome 30.2 TGFBR2 TGFBR1 TGFB2 TGFB1
4 hyperostosis 30.1 TNFRSF11B TGFB1 SOST LRP5 ANKH ACVR1
5 endosteal hyperostosis, autosomal dominant 29.9 TNFRSF11B SP7 SOST LRP5 ACP5
6 metaphyseal dysplasia 29.8 SOST RUNX2 ACP5
7 craniodiaphyseal dysplasia 29.8 SP7 SOST LRP5 ANKH
8 bone disease 29.6 TNFRSF11B SP7 SOST RUNX2 LRP5 BGLAP
9 osteopetrosis 29.4 TNFRSF11B RUNX2 LRP5 BGLAP ACP5
10 scoliosis 29.3 TNFRSF11B TGFBR2 TGFB2 TGFB1 RUNX2 BGLAP
11 connective tissue disease 29.3 TGFBR2 TGFB1 SP7 SOST RUNX2 BGLAP
12 osteochondrodysplasia 28.8 TNFRSF11B SP7 SOST RUNX2 LRP5 BGLAP
13 mammary paget's disease 28.7 TNFRSF11B SP7 SOST RUNX2 BGLAP ACP5
14 breast adenocarcinoma 28.7 TNFRSF11B SP7 SOST RUNX2 BGLAP ACP5
15 ankylosis 28.6 TNFRSF11B TGFB1 SP7 SOST RUNX2 BGLAP
16 osteoporosis 28.3 TNFRSF11B TGFBR1 TGFB2 TGFB1 SP7 SOST
17 craniometaphyseal dysplasia, autosomal dominant 28.2 TNFRSF11B SP7 SOST RUNX2 BGLAP ANKH
18 camurati-engelmann disease, type 2 11.9
19 ribbing disease 11.5
20 cranioectodermal dysplasia 11.4
21 pervasive developmental disorder 11.4
22 pseudodiastrophic dysplasia 11.3
23 autism 11.1
24 dementia 11.1
25 childhood disintegrative disease 11.0
26 autism x-linked 1 11.0
27 autism x-linked 2 11.0
28 autism x-linked 3 11.0
29 autism x-linked 4 11.0
30 autism x-linked 5 11.0
31 autism x-linked 6 11.0
32 autism 8 11.0
33 autism 3 11.0
34 autism 6 11.0
35 autism 7 11.0
36 autism 11 11.0
37 autism 12 11.0
38 autism 13 11.0
39 autism 9 11.0
40 autism 10 11.0
41 autism 15 11.0
42 autism 16 11.0
43 autism 17 11.0
44 cranioectodermal dysplasia 3 11.0
45 cranioectodermal dysplasia 4 11.0
46 atypical autism 11.0
47 rare pervasive developmental disorder 11.0
48 dementia, lewy body 11.0
49 asperger syndrome 11.0
50 cranioectodermal dysplasia 1 10.9

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 30 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004326
2 hyperostosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100774
3 elevated aldolase level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012544
4 bone pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002653
5 aplasia/hypoplasia of the radius 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006501
6 cortical thickening of long bone diaphyses 58 30 Very rare (1%) Very frequent (99-80%)
HP:0005791
7 abnormality of the humerus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003063
8 craniofacial osteosclerosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005464
9 abnormal morphology of ulna 30 Hallmark (90%) HP:0040071
10 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
11 waddling gait 58 30 Very rare (1%) Frequent (79-30%)
HP:0002515
12 abnormality of tibia morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0002992
13 limitation of joint mobility 58 30 Frequent (33%) Frequent (79-30%)
HP:0001376
14 metaphyseal dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0100255
15 frontal bossing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002007
16 neurological speech impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002167
17 scoliosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0002650
18 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
19 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
20 facial palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010628
21 hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003307
22 hearing impairment 58 30 Very rare (1%) Occasional (29-5%)
HP:0000365
23 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
24 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002240
25 carious teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000670
26 pes planus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001763
27 abnormal facial shape 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001999
28 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648
29 feeding difficulties in infancy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008872
30 delayed puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000823
31 anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001903
32 genu valgum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002857
33 hypertrophic cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001639
34 anorexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002039
35 slender build 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001533
36 glaucoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000501
37 delayed eruption of teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000684
38 proptosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0000520
39 sensory neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000763
40 coxa valga 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002673
41 hypogonadism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000135
42 abnormal subcutaneous fat tissue distribution 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007552
43 leukopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001882
44 elevated erythrocyte sedimentation rate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003565
45 urinary retention 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000016
46 optic nerve compression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007807
47 abnormal pelvic girdle bone morphology 30 Occasional (7.5%) HP:0002644
48 muscle weakness 58 30 Very rare (1%) Frequent (79-30%)
HP:0001324
49 easy fatigability 30 Very rare (1%) HP:0003388
50 limb pain 30 Very rare (1%) HP:0009763

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Camurati-Engelmann Disease:


waddling gait; headache; pain in lower limb

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

25 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.21 TGFB2 TGFBR1 TGFBR2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.21 TGFB2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.21 ACVR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.21 TGFBR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.21 TGFBR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.21 ACVR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.21 TGFB2 TGIF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-14 10.21 TGFB2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.21 TGIF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.21 TGFBR1 TGFBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-160 10.21 ACVR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.21 TGFBR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.21 TGFBR2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.21 TGFBR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.21 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.21 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.21 TGFB2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.21 TGFBR1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.21 TGFB2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.21 TGFBR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.21 ACVR1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.21 TGFBR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.21 TGFBR2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.21 TGFB2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-48 10.21 TGFBR2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-59 10.21 TGFB2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.21 TGFB2 TGFBR1 TGFBR2 ACVR1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-66 10.21 ACVR1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.21 TGFBR2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-72 10.21 TGFB2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.21 TGFB2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.21 TGFBR1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.21 ACVR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.21 TGFBR1 ACVR1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.21 TGFBR1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.21 TGIF1 ACVR1

MGI Mouse Phenotypes related to Camurati-Engelmann Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ACVR1 ANKH BGLAP LRP5 RUNX2 SOST
2 cellular MP:0005384 10.18 ACVR1 ANKH BGLAP LRP5 RUNX2 SOST
3 limbs/digits/tail MP:0005371 10.16 ACP5 ACVR1 ANKH LRP5 RUNX2 SOST
4 craniofacial MP:0005382 10.1 ACVR1 ANKH LRP5 RUNX2 TGFB1 TGFB2
5 immune system MP:0005387 10.07 ACP5 ACVR1 ANKH BGLAP LRP5 RUNX2
6 muscle MP:0005369 10.02 ACVR1 ANKH RUNX2 TGFB1 TGFB2 TGFBR1
7 cardiovascular system MP:0005385 10.02 ACVR1 ANKH LRP5 RUNX2 TGFB1 TGFB2
8 skeleton MP:0005390 9.8 ACP5 ACVR1 ANKH BGLAP LRP5 RUNX2
9 respiratory system MP:0005388 9.76 ANKH RUNX2 SP7 TGFB1 TGFB2 TGFBR1
10 hematopoietic system MP:0005397 9.4 ACP5 ANKH BGLAP LRP5 RUNX2 TBXAS1

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 28 TGFB1

Anatomical Context for Camurati-Engelmann Disease

Organs/tissues related to Camurati-Engelmann Disease:

FMA: Long Bone
MalaCards : Bone, Spinal Cord, Spleen, Liver, Bone Marrow, Eye, Skin
ODiseA: Blood And Bone Marrow

Publications for Camurati-Engelmann Disease

Articles related to Camurati-Engelmann Disease:

(show top 50) (show all 327)
# Title Authors PMID Year
1
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. 53 62 24 57 5
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. 53 62 24 57
15326622 2004
3
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. 53 62 24 5
15103729 2004
4
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. 53 62 24 57
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. 53 62 24 5
11278244 2001
6
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. 53 62 24 5
11062463 2000
7
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. 62 24 57
15894597 2006
8
Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome. 62 24 57
11260231 2001
9
Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity? 62 24 57
10748417 2000
10
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. 53 62 5
12843182 2003
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. 53 62 24
12493741 2003
12
Genetic homogeneity of the Camurati-Engelmann disease. 62 57
11005150 2000
13
Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region. 62 57
10843814 2000
14
Anticipation in progressive diaphyseal dysplasia. 62 57
10905898 2000
15
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. 62 57
10745041 2000
16
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. 62 57
10631145 2000
17
Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling. 62 57
7917133 1994
18
Engelmann's disease of bone--a systemic disorder? 62 57
7073346 1982
19
Progessive diaphyseal dysplasia. Review of the literature and report of seven cases in one family. 62 57
4703201 1973
20
Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature. 62 57
5025487 1972
21
Corticosteroids in the treatment of Engelmann's disease: progressive diaphyseal dysplasia. 62 57
5503688 1970
22
PROGRESSIVE DIAPHYSEAL DYSPLASIA (ENGELMANN'S DISEASE). 62 57
14104304 1964
23
Progressive diaphyseal dysplasia (Engelmann's disease). 62 57
13350520 1956
24
Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease. 62 24
28842728 2017
25
Repeat Intracranial Expansion After Skull Regrowth in Hyperostotic Disease: Technical Note. 62 24
28137547 2017
26
Orthopedic Manifestations of Type I Camurati-Engelmann Disease. 62 24
28261436 2017
27
Bilateral papilloedema in Camurati-Engelmann disease. 62 24
26286906 2015
28
Elimination of pain and improvement of exercise capacity in Camurati-Engelmann disease with losartan. 62 24
25140400 2014
29
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation. 62 24
25099136 2014
30
Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease. 62 24
22044122 2012
31
Skull base manifestations of Camurati-Engelmann disease. 62 24
20566907 2010
32
Two distinct regions of latency-associated peptide coordinate stability of the latent transforming growth factor-beta1 complex. 62 24
20308061 2010
33
Camurati-Engelmann disease in conjunction with hypogonadism. 62 24
16638728 2005
34
Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases. 62 24
15660289 2005
35
Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease). 62 24
11452173 2001
36
Cochlear implantation for auditory rehabilitation in Camurati-Engelmann disease. 62 24
10685567 2000
37
Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease). 62 24
10457303 1999
38
Ribbing disease (multiple diaphyseal sclerosis): imaging and differential diagnosis. 57
8751682 1996
39
Engelmann's disease: a 45-year follow-up. 57
8636193 1996
40
Hereditary multiple diaphyseal sclerosis: a tumor simulator. 57
2259666 1990
41
Clinical and scintigraphic evaluation of corticosteroid treatment in a case of progressive diaphyseal dysplasia. 62 24
4057207 1985
42
Muscular changes in Engelmann's disease. 57
7436538 1980
43
Diaphyseal dysplasia (Engelmann) treated with corticosteroids. 62 24
4461085 1974
44
[Engelmann's disease: results of treatment with prednisone]. 57
4860416 1967
45
Camurati-Engelmann's disease affecting the jaws. 57
5223066 1966
46
Hereditary multiple diaphyseal sclerosis (ribbing). 57
13038037 1953
47
Englemann's disease (progressive diaphyseal hyperostosis); report of a case. 62 24
14850520 1951
48
Hereditary, multiple, diaphyseal sclerosis. 57
18138014 1949
49
Progressive diaphyseal dysplasia. 62 24
18869144 1948
50
Case for Diagnosis. 57
19981348 1920

Variations for Camurati-Engelmann Disease

ClinVar genetic disease variations for Camurati-Engelmann Disease:

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFB1 NM_000660.7(TGFB1):c.667T>G (p.Cys223Gly) SNV Pathogenic
12530 rs104894722 GRCh37: 19:41848120-41848120
GRCh38: 19:41342215-41342215
2 TGFB1 NM_000660.7(TGFB1):c.667T>C (p.Cys223Arg) SNV Pathogenic
12533 rs104894722 GRCh37: 19:41848120-41848120
GRCh38: 19:41342215-41342215
3 TGFB1 NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg) SNV Pathogenic
12528 rs104894719 GRCh37: 19:41848114-41848114
GRCh38: 19:41342209-41342209
4 TGFB1 NM_000660.7(TGFB1):c.653G>A (p.Arg218His) SNV Pathogenic
12529 rs104894720 GRCh37: 19:41848134-41848134
GRCh38: 19:41342229-41342229
5 TGFB1 NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) SNV Pathogenic
12531 rs104894721 GRCh37: 19:41848135-41848135
GRCh38: 19:41342230-41342230
6 TGFB1 NM_000660.7(TGFB1):c.241T>C (p.Tyr81His) SNV Pathogenic
12532 rs111033611 GRCh37: 19:41858709-41858709
GRCh38: 19:41352804-41352804
7 TGFB1 NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys) SNV Likely Pathogenic
803561 rs1599893542 GRCh37: 19:41854204-41854204
GRCh38: 19:41348299-41348299
8 TGFB1 NM_000660.7(TGFB1):c.712G>A (p.Gly238Arg) SNV Uncertain Significance
803560 rs1454205854 GRCh37: 19:41848075-41848075
GRCh38: 19:41342170-41342170
9 LRP5 NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe) SNV Uncertain Significance
805882 rs1591284438 GRCh37: 11:68170984-68170984
GRCh38: 11:68403516-68403516
10 TGFB1 NM_000660.7(TGFB1):c.535T>C (p.Trp179Arg) SNV Uncertain Significance
634551 rs1568478752 GRCh37: 19:41850751-41850751
GRCh38: 19:41344846-41344846
11 TGFB1 NM_000660.7(TGFB1):c.861-20C>T SNV Benign
256753 rs8179181 GRCh37: 19:41838206-41838206
GRCh38: 19:41332301-41332301
12 TGFB1 NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) SNV Benign
12534 rs1800470 GRCh37: 19:41858921-41858921
GRCh38: 19:41353016-41353016
13 TGFB1 NM_000660.7(TGFB1):c.30GCT[6] (p.Leu11_Leu13dup) MICROSAT Not Provided
38892 rs281865483 GRCh37: 19:41858911-41858912
GRCh38: 19:41353006-41353007
14 TGFB1 NM_000660.7(TGFB1):c.664C>G (p.His222Asp) SNV Not Provided
38900 rs281865485 GRCh37: 19:41848123-41848123
GRCh38: 19:41342218-41342218

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 GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 TGFBR2 TGFBR1 TGFB2 TGFB1 ACVR1
2
Show member pathways
12.38 TGFB1 TGFB2 TGFBR1 TGFBR2 TGIF1
3 12.37 TGFBR2 TGFBR1 TGFB2 TGFB1
4
Show member pathways
12.33 TGFBR2 TGFBR1 TGFB2 TGFB1
5 12.2 TNFRSF11B TGFB2 TGFB1 LRP5 BGLAP
6 12.18 TGFBR1 TGFB2 TGFB1 LRP5 ACVR1
7 12.11 TGFBR2 TGFBR1 TGFB2 TGFB1 LRP5
8 12.09 TGFBR2 TGFBR1 TGFB2 TGFB1
9 12.08 LRP5 TGFB1 TGFB2 TGFBR1 TGFBR2
10
Show member pathways
11.97 TGFB2 TGFB1 RUNX2
11
Show member pathways
11.89 TGFBR2 TGFBR1 TGFB2 TGFB1
12
Show member pathways
11.85 TNFRSF11B TGFB2 TGFB1 RUNX2
13
Show member pathways
11.83 TGFBR2 TGFBR1 TGFB1
14
Show member pathways
11.83 TGFBR2 TGFBR1 TGFB2 TGFB1
15
Show member pathways
11.82 TGIF1 TGFBR2 TGFBR1 TGFB1 RUNX2
16 11.81 TGFBR1 TGFB2 TGFB1
17
Show member pathways
11.75 TGFBR2 TGFBR1 ACVR1
18 11.71 TGFBR2 TGFBR1 TGFB1
19 11.7 RUNX2 TGFB1 TGFB2 TGFBR1 TGFBR2
20 11.64 TGIF1 TGFBR2 TGFBR1 TGFB2 TGFB1
21
Show member pathways
11.63 SP7 RUNX2 BGLAP
22 11.63 TGFB2 TGFB1 SP7 RUNX2 BGLAP
23
Show member pathways
11.62 TGFBR2 TGFBR1 TGFB2 TGFB1
24 11.59 TGFB2 RUNX2 BGLAP
25 11.53 TGFBR2 TGFBR1 TGFB1
26 11.51 TGFBR2 TGFB2 TGFB1
27 11.48 TGFBR2 TGFBR1 TGFB2 TGFB1
28 11.47 BGLAP RUNX2 TGFB1
29 11.42 TGFBR2 TGFBR1 TGFB2 TGFB1
30 11.36 TNFRSF11B TGFBR1 RUNX2 BGLAP
31 11.35 TGFBR1 TGFB2 TGFB1
32 11.33 TNFRSF11B SP7 LRP5
33 11.33 SP7 SOST RUNX2
34 11.25 TGFB1 TGFBR1 TGFBR2
35 11.24 TGFB1 TGFB2 TGFBR1
36
Show member pathways
11.22 TGFBR2 TGFBR1 TGFB1
37 11.17 TGFBR2 TGFBR1 RUNX2
38
Show member pathways
11.02 SOST LRP5
39 11.01 TGFBR2 TGFBR1 TGFB1
40 11 TNFRSF11B TGFB1 SP7 SOST RUNX2 LRP5
41 10.95 TGFBR2 TGFBR1 TGFB1
42
Show member pathways
10.85 TGFBR2 TGFBR1 TGFB1 ACVR1
43 10.77 TGFB2 TGFB1
44 10.49 TGFBR2 TGFBR1 TGFB2 TGFB1

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 activin receptor complex GO:0048179 9.56 TGFBR1 ACVR1
2 receptor complex GO:0043235 9.32 TNFRSF11B TGFBR2 TGFBR1 LRP5 ACVR1
3 transforming growth factor beta ligand-receptor complex GO:0070021 9.26 TGFBR2 TGFBR1
4 plasma membrane signaling receptor complex GO:0098802 9.16 TGFBR1 ACVR1

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.35 TGFBR2 TGFBR1 TGFB2 TGFB1 RUNX2 LRP5
2 heart development GO:0007507 10.32 ACVR1 TGFB1 TGFB2 TGFBR1 TGFBR2
3 response to xenobiotic stimulus GO:0009410 10.3 TNFRSF11B TGFBR2 TGFB2 TGFB1 BGLAP
4 gene expression GO:0010467 10.18 TGFB1 SP7 RUNX2 ANKH
5 peptidyl-threonine phosphorylation GO:0018107 10.17 TGFBR2 TGFBR1 ACVR1
6 wound healing GO:0042060 10.16 TGFBR2 TGFBR1 TGFB2 TGFB1
7 transforming growth factor beta receptor signaling pathway GO:0007179 10.16 TGFBR2 TGFBR1 TGFB2 TGFB1 ACVR1
8 response to mechanical stimulus GO:0009612 10.15 TGFBR2 SOST BGLAP
9 response to estrogen GO:0043627 10.15 BGLAP TGFBR2 TNFRSF11B
10 epithelial to mesenchymal transition GO:0001837 10.14 TGFBR1 TGFB2 TGFB1
11 positive regulation of epithelial to mesenchymal transition GO:0010718 10.11 TGFB1 TGFB2 TGFBR1 TGFBR2
12 embryonic cranial skeleton morphogenesis GO:0048701 10.1 TGFBR2 TGFBR1 RUNX2
13 ventricular septum morphogenesis GO:0060412 10.08 TGFBR2 TGFBR1 TGFB2 ACVR1
14 activin receptor signaling pathway GO:0032924 10.07 ACVR1 TGFBR1 TGFBR2
15 osteoblast development GO:0002076 10.06 RUNX2 LRP5 BGLAP
16 BMP signaling pathway GO:0030509 10.06 TGFB2 TGFB1 SOST RUNX2 ACVR1
17 skeletal system development GO:0001501 10.06 TNFRSF11B TGFBR1 TGFB2 RUNX2 BGLAP ANKH
18 atrioventricular valve morphogenesis GO:0003181 10.01 TGFBR2 TGFB2 ACVR1
19 response to organic cyclic compound GO:0014070 10 TGFBR2 TGFB1 SP7 BGLAP
20 outflow tract septum morphogenesis GO:0003148 10 TGFBR2 TGFB2 ACVR1
21 SMAD protein signal transduction GO:0060395 9.99 TGFB2 TGFB1 RUNX2
22 cellular response to zinc ion starvation GO:0034224 9.99 SP7 BGLAP
23 response to sodium phosphate GO:1904383 9.98 RUNX2 ANKH
24 membranous septum morphogenesis GO:0003149 9.98 TGFBR2 TGFB2
25 heart valve morphogenesis GO:0003179 9.97 TGFB2 TGFB1
26 atrial septum primum morphogenesis GO:0003289 9.95 ACVR1 TGFB2
27 cementum mineralization GO:0071529 9.95 SP7 ANKH
28 diphosphate metabolic process GO:0071344 9.92 SP7 ANKH
29 negative regulation of macrophage cytokine production GO:0010936 9.92 TGFB2 TGFB1 ACP5
30 cellular response to growth factor stimulus GO:0071363 9.91 ACVR1 BGLAP TGFB1 TGFBR1 TGFBR2
31 response to cholesterol GO:0070723 9.89 TGFBR2 TGFBR1 TGFB1
32 germ cell migration GO:0008354 9.86 TGFBR1 TGFB1
33 salivary gland morphogenesis GO:0007435 9.85 TGFB2 TGFB1
34 endocardial cushion fusion GO:0003274 9.85 TGFBR2 TGFB2 ACVR1
35 common-partner SMAD protein phosphorylation GO:0007182 9.84 TGFBR2 TGFB1
36 Langerhans cell differentiation GO:0061520 9.81 TGFBR2 TGFB1
37 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.81 TGFBR2 TGFBR1 TGFB2 TGFB1 ACVR1
38 regulation of macromolecule metabolic process GO:0060255 9.75 TGFBR2 TGFBR1 ACVR1
39 regulation of primary metabolic process GO:0080090 9.74 TGFBR2 TGFBR1 ACVR1
40 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.73 TGFBR2 TGFBR1 ACVR1
41 regulation of nitrogen compound metabolic process GO:0051171 9.72 TGFBR2 TGFBR1 ACVR1
42 regulation of multicellular organismal process GO:0051239 9.61 ACVR1 TGFBR1 TGFBR2
43 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.56 TGFBR2 TGFBR1 TGFB2 ACVR1
44 pathway-restricted SMAD protein phosphorylation GO:0060389 9.32 TGFBR2 TGFBR1 TGFB2 TGFB1 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 9.91 TGFBR2 TGFBR1 ACVR1
2 transforming growth factor beta binding GO:0050431 9.8 ACVR1 TGFBR1 TGFBR2
3 transforming growth factor beta receptor activity GO:0005024 9.76 TGFBR2 TGFBR1
4 activin binding GO:0048185 9.73 TGFBR2 TGFBR1 ACVR1
5 activin receptor activity, type I GO:0016361 9.71 TGFBR1 ACVR1
6 transforming growth factor beta receptor activity, type I GO:0005025 9.67 TGFBR1 ACVR1
7 type I transforming growth factor beta receptor binding GO:0034713 9.65 TGFBR2 TGFB1
8 type II transforming growth factor beta receptor binding GO:0005114 9.55 TGFBR1 TGFB2 TGFB1
9 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.35 TGFBR2 TGFBR1 ACVR1
10 type III transforming growth factor beta receptor binding GO:0034714 8.92 TGFBR2 TGFB2 TGFB1

Sources for Camurati-Engelmann Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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