MCID: MLR003
MIFTS: 43

Melorheostosis

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Melorheostosis

MalaCards integrated aliases for Melorheostosis:

Name: Melorheostosis 12 49 28 51 41 14 69

Classifications:



Summaries for Melorheostosis

NIH Rare Diseases : 49 Melorheostosis is a rare skeletal abnormality. It causes a lesion of bone to become overly thick and dense. The skin and soft tissues surrounding the bone lesion also harden. Melorheostosis tends to be limited to one extremity. Melorheostosis can cause pain, limit range of movement (if a joint is involved), or stunt the growth of an affected extremity.  Melorheostosis is thought to occur during fetal development, however signs and symptoms tend not to present until later childhood or early adulthood. Melorheostosis is a sporadic condition, and is not inherited. Last updated: 6/16/2015

MalaCards based summary : Melorheostosis is related to buschke-ollendorff syndrome and osteopoikilosis, and has symptoms including atypical scarring of skin, lymphedema and arthritis. An important gene associated with Melorheostosis is LEMD3 (LEM Domain Containing 3), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and TGF-beta signaling pathway (KEGG). Affiliated tissues include bone, skin and cortex, and related phenotypes are neoplasm and skeleton

Disease Ontology : 12 An osteosclerosis that has material basis in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.

Related Diseases for Melorheostosis

Diseases related to Melorheostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 buschke-ollendorff syndrome 32.7 LEMD3 SMAD2
2 osteopoikilosis 30.5 LEMD3 SMAD2
3 melorheostosis, isolated 12.4
4 melorheostosis with osteopoikilosis 12.4
5 episodic pain syndrome, familial, 1 10.2
6 linear scleroderma 10.1
7 aneurysm 10.0
8 peripheral osteosarcoma 10.0 POSTN SPARC
9 hypertrophic scars 9.9 BMP6 SMAD2
10 carpal tunnel syndrome 9.9
11 mononeuropathy of the median nerve, mild 9.9
12 arthritis 9.9
13 hypertrichosis 9.9
14 neurofibroma 9.9
15 fibromatosis 9.9
16 cardiovascular organ benign neoplasm 9.8 FGF2 LEMD3
17 benign perivascular tumor 9.8 FGF2 LEMD3
18 adamantinoma of long bones 9.8 FGF2 SPARC
19 dupuytren contracture 9.8 BMP6 FGF2
20 endosteal hyperostosis, autosomal dominant 9.7
21 klippel-trenaunay-weber syndrome 9.7
22 rheumatoid arthritis 9.7
23 osteopetrosis 9.7
24 rickets 9.7
25 nephrotic syndrome 9.7
26 renovascular hypertension 9.7
27 cervicitis 9.7
28 bone inflammation disease 9.7
29 histiocytoma 9.7
30 radiculopathy 9.7
31 fibrous histiocytoma 9.7
32 desmoid tumor 9.7
33 weber syndrome 9.7
34 back pain 9.7
35 juvenile nasopharyngeal angiofibroma 9.7 BMP6 FGF2
36 vitreous disease 9.7 FGF2 SMAD2
37 idiopathic hypercalciuria 9.7 BMP6 FGF2
38 crouzon syndrome 9.7 BMP6 FGF2
39 renal fibrosis 9.7 BMP6 SMAD2
40 vitreoretinopathy, neovascular inflammatory 9.6 FGF2 SPARC
41 dry eye syndrome 9.6 BMP6 FGF2
42 chondrosarcoma 9.4 FGF2 SPARC
43 pulmonary fibrosis, idiopathic 8.6 BMP6 FGF2 POSTN SMAD2 SPARC

Graphical network of the top 20 diseases related to Melorheostosis:



Diseases related to Melorheostosis

Symptoms & Phenotypes for Melorheostosis

Human phenotypes related to Melorheostosis:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 atypical scarring of skin 31 occasional (7.5%) HP:0000987
2 lymphedema 31 hallmark (90%) HP:0001004
3 arthritis 31 occasional (7.5%) HP:0001369
4 joint stiffness 31 hallmark (90%) HP:0001387
5 failure to thrive 31 hallmark (90%) HP:0001508
6 skeletal dysplasia 31 hallmark (90%) HP:0002652
7 bone pain 31 hallmark (90%) HP:0002653
8 arthralgia 31 hallmark (90%) HP:0002829
9 skeletal muscle atrophy 31 hallmark (90%) HP:0003202
10 cranial nerve paralysis 31 hallmark (90%) HP:0006824
11 increased bone mineral density 31 hallmark (90%) HP:0011001
12 ectopic ossification in muscle tissue 31 hallmark (90%) HP:0011987
13 lower limb asymmetry 31 frequent (33%) HP:0100559
14 upper limb asymmetry 31 frequent (33%) HP:0100560
15 hyperostosis 31 hallmark (90%) HP:0100774
16 peripheral arteriovenous fistula 31 occasional (7.5%) HP:0100784

MGI Mouse Phenotypes related to Melorheostosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.26 FGF2 POSTN SMAD2 SPARC
2 skeleton MP:0005390 9.02 BMP6 FGF2 POSTN SMAD2 SPARC

Drugs & Therapeutics for Melorheostosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease Recruiting NCT02504879

Search NIH Clinical Center for Melorheostosis

Cochrane evidence based reviews: melorheostosis

Genetic Tests for Melorheostosis

Genetic tests related to Melorheostosis:

# Genetic test Affiliating Genes
1 Melorheostosis 28 LEMD3

Anatomical Context for Melorheostosis

MalaCards organs/tissues related to Melorheostosis:

38
Bone, Skin, Cortex, Skeletal Muscle, Spinal Cord

Publications for Melorheostosis

Articles related to Melorheostosis:

(show top 50) (show all 227)
# Title Authors Year
1
18F-NaF PET/CT in Extensive Melorheostosis of the Axial and Appendicular Skeleton With Soft-Tissue Involvement. ( 28319505 )
2017
2
Clinical Images: Arthritis in melorheostosis-an uncommon feature in a rare disease. ( 29108116 )
2017
3
Melorheostosis: a Rare Sclerosing Bone Dysplasia. ( 28676968 )
2017
4
A Unique Case of Melorheostosis Presenting with Two Radiologically Distinct Lesions in the Shoulder. ( 29234550 )
2017
5
Managing Recurrence in Intraarticular Melorheostosis Involving the Knee Joint: A Case Report. ( 29242791 )
2017
6
Melorheostosis-Foot and ankle perspective. ( 28544914 )
2017
7
Melorheostosis with recurrent soft-tissue components: a histologically confirmed case. ( 28062900 )
2017
8
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. ( 28434888 )
2017
9
Detection of melorheostosis in a young lady with upper limb pain on Three Phase Bone Scintigram/SPECT-CT. ( 27252746 )
2016
10
Pelvic Pain Due to Ischial Tuberosity and Acetabular Melorheostosis-Multimodal Image Presentation. ( 26968610 )
2016
11
Melorheostosis of the Foot: A Case Report of A rare entity with a Review of Multimodality Imaging Emphasizing the Importance of Conventional Radiography in Diagnosis. ( 27299136 )
2016
12
Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic. ( 27485676 )
2016
13
Poster 442 Intractable Pelvic Pain Due to Melorheostosis Managed with Spinal Cord Stimulation: A Case Report. ( 27673191 )
2016
14
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. ( 26135202 )
2015
15
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty: A Case Report. ( 29252695 )
2015
16
Melorheostosis. ( 25798011 )
2015
17
Arthroscopic findings in melorheostosis. ( 25807097 )
2015
18
Melorheostosis: segmental osteopoikilosis or a separate entity? ( 25575356 )
2015
19
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty. ( 29252609 )
2015
20
Incidentally diagnosed melorheostosis of upper limb: case report. ( 25637225 )
2015
21
Melorheostosis of the spine and ribs. ( 25912499 )
2015
22
Melorheostosis involving the hand. ( 25708729 )
2015
23
Extensive melorheostosis of the ribs demonstrated on (18)F-Fluoride PET/CT. ( 25367750 )
2014
24
Melorheostosis - Case Report of Rare Disease. ( 27298954 )
2014
25
Melorheostosis: Two atypical cases. ( 25024532 )
2014
26
Melorheostosis of the hand affecting the c6 sclerotome and presenting with carpal tunnel syndrome. ( 24763843 )
2014
27
Melorheostosis: a rare entity: a case report. ( 25489356 )
2014
28
Melorheostosis mimicking synovial osteochondromatosis. ( 25971832 )
2014
29
Melorheostosis and central giant cell granuloma of the mandible in a 15-year-old girl. ( 24119529 )
2013
30
Melorheostosis associated with bilateral aneurysms of the intrarenal arteries. ( 23890790 )
2013
31
Severe valgus deformity of the knee with permanent patellar dislocation associated with melorheostosis: A case report and review of the literature. ( 23306029 )
2013
32
Melorheostosis and a review of the literature in China. ( 25343102 )
2013
33
Successful Treatment of the Pain Associated With Melorheostosis With Spinal Cord Stimulation: A Case Study. ( 23663163 )
2013
34
Successful treatment of pain in melorheostosis with zoledronate, with improvement on bone scintigraphy. ( 23813581 )
2013
35
Melorheostosis causing lumbar radiculopathy: a case report and a review of the literature. ( 23541445 )
2013
36
Appearance of osteolysis with melorheostosis: redefining the disease or a new disorder? A novel case report with multimodality imaging. ( 23680113 )
2013
37
Bone scintigraphy elucidates different metabolic stages of melorheostosis. ( 22514755 )
2012
38
Three cases of melorheostosis with foot and ankle involvement. ( 22900256 )
2012
39
Surgical treatment of melorheostosis: report of two cases. ( 22531309 )
2012
40
Case report: Emergency department diagnosis of melorheostosis in the upper extremity: a rare disease with an unusual presentation. ( 20576391 )
2012
41
Knee melorheostosis treated by drilling fenestration: a case report. ( 22615160 )
2012
42
Unilateral nevoid telangiectasia associated with ipsilateral melorheostosis. ( 22577274 )
2012
43
Melorheostosis in the hand and forearm. ( 21849883 )
2012
44
Melorheostosis of the sacrum causing acute-onset neurological symptoms. ( 21667326 )
2011
45
Melorheostosis of the foot. ( 22191303 )
2011
46
Melorheostosis of the thumb and trapezium bone. ( 22379444 )
2011
47
Arthroscopically assisted knee contracture release secondary to melorheostosis: a case report. ( 20490459 )
2011
48
Detection of extensive melorheostosis on bone scintigram performed for suspected metastases. ( 21285690 )
2011
49
Melorheostosis of the ulna. ( 22036140 )
2011
50
Classical and unusual imaging appearances of melorheostosis. ( 20599060 )
2010

Variations for Melorheostosis

Expression for Melorheostosis

Search GEO for disease gene expression data for Melorheostosis.

Pathways for Melorheostosis

GO Terms for Melorheostosis

Cellular components related to Melorheostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 8.92 BMP6 FGF2 POSTN SPARC

Biological processes related to Melorheostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.46 SMAD2 SPARC
2 ossification GO:0001503 9.43 BMP6 SPARC
3 positive regulation of endothelial cell proliferation GO:0001938 9.4 BMP6 FGF2
4 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.37 LEMD3 SMAD2
5 somatic stem cell population maintenance GO:0035019 9.32 FGF2 SMAD2
6 response to glucocorticoid GO:0051384 9.26 BMP6 SPARC
7 SMAD protein signal transduction GO:0060395 9.16 BMP6 SMAD2
8 extracellular matrix organization GO:0030198 9.13 FGF2 POSTN SPARC
9 wound healing GO:0042060 8.92 FGF2 POSTN SMAD2 SPARC

Molecular functions related to Melorheostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor binding GO:0005160 8.62 BMP6 SMAD2

Sources for Melorheostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....