MCID: MLR003
MIFTS: 37

Melorheostosis

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Melorheostosis

MalaCards integrated aliases for Melorheostosis:

Name: Melorheostosis 12 50 29 52 42 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:4253
MeSH 42 D008557
NCIt 47 C84887
SNOMED-CT 64 240173003 44697002
UMLS 69 C0025239

Summaries for Melorheostosis

NIH Rare Diseases : 50 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 melorheostosis, isolated and melorheostosis with osteopoikilosis. 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, cortex and skin, 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.

Wikipedia : 72 Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex... more...

Related Diseases for Melorheostosis

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

(show all 42)
id Related Disease Score Top Affiliating Genes
1 melorheostosis, isolated 12.3
2 melorheostosis with osteopoikilosis 12.2
3 buschke-ollendorff syndrome 11.6
4 osteopoikilosis 10.2
5 cavitary optic disc anomalies 10.1 LEMD3 SMAD2
6 spermatocele 10.1 LEMD3 SMAD2
7 conventional central osteosarcoma 10.1 POSTN SPARC
8 linear scleroderma 10.0
9 congenital methemoglobinemia 10.0 BMP6 SMAD2
10 aneurysm 9.9
11 bone benign neoplasm 9.8 FGF2 LEMD3
12 hilar cholangiocellular carcinoma 9.8 FGF2 LEMD3
13 hypertrichosis 9.8
14 neurofibroma 9.8
15 fibromatosis 9.8
16 vascular malformation 9.8
17 ohdo syndrome, maat-kievit-brunner type 9.7 BMP6 FGF2
18 purulent endophthalmitis 9.7 FGF2 SMAD2
19 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 9.7 BMP6 FGF2
20 rheumatoid arthritis 9.6
21 klippel-trenaunay-weber syndrome 9.6
22 arthritis 9.6
23 osteopetrosis 9.6
24 rickets 9.6
25 nephrotic syndrome 9.6
26 renovascular hypertension 9.6
27 cervicitis 9.6
28 histiocytoma 9.6
29 radiculopathy 9.6
30 fibrous histiocytoma 9.6
31 desmoid tumor 9.6
32 tricho-dento-osseous syndrome 9.6
33 weber syndrome 9.6
34 back pain 9.6
35 silver-russell syndrome due to 11p15 microduplication 9.6 BMP6 FGF2
36 perrault syndrome 9.6 BMP6 SMAD2
37 beare-stevenson cutis gyrata syndrome 9.6 BMP6 FGF2
38 exudative vitreoretinopathy 1 9.5 FGF2 SPARC
39 myelofibrosis with myeloid metaplasia, somatic 9.5 BMP6 FGF2
40 trichorhinophalangeal syndrome, type ii 9.2 FGF2 SPARC
41 diamond-blackfan anemia 3 8.2 BMP6 FGF2 POSTN SMAD2 SPARC
42 intravascular angioleiomyoma 7.8 BMP6 FGF2 LEMD3 POSTN SMAD2 SPARC

Graphical network of the top 20 diseases related to Melorheostosis:



Diseases related to Melorheostosis

Symptoms & Phenotypes for Melorheostosis

MGI Mouse Phenotypes related to Melorheostosis:

44
id 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:


id 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:

id Genetic test Affiliating Genes
1 Melorheostosis 29

Anatomical Context for Melorheostosis

MalaCards organs/tissues related to Melorheostosis:

39
Bone, Cortex, Skin, Spinal Cord, Skeletal Muscle

Publications for Melorheostosis

Articles related to Melorheostosis:

(show top 50) (show all 222)
id Title Authors Year
1
Melorheostosis with recurrent soft-tissue components: a histologically confirmed case. ( 28062900 )
2017
2
18F-NaF PET/CT in Extensive Melorheostosis of the Axial and Appendicular Skeleton With Soft-Tissue Involvement. ( 28319505 )
2017
3
Melorheostosis-Foot and ankle perspective. ( 28544914 )
2017
4
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. ( 28434888 )
2017
5
Melorheostosis: a Rare Sclerosing Bone Dysplasia. ( 28676968 )
2017
6
Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic. ( 27485676 )
2016
7
Detection of melorheostosis in a young lady with upper limb pain on Three Phase Bone Scintigram/SPECT-CT. ( 27252746 )
2016
8
Pelvic Pain Due to Ischial Tuberosity and Acetabular Melorheostosis-Multimodal Image Presentation. ( 26968610 )
2016
9
Poster 442 Intractable Pelvic Pain Due to Melorheostosis Managed with Spinal Cord Stimulation: A Case Report. ( 27673191 )
2016
10
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
11
Melorheostosis. ( 25798011 )
2015
12
Melorheostosis involving the hand. ( 25708729 )
2015
13
Arthroscopic findings in melorheostosis. ( 25807097 )
2015
14
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. ( 26135202 )
2015
15
Incidentally diagnosed melorheostosis of upper limb: case report. ( 25637225 )
2015
16
Melorheostosis: segmental osteopoikilosis or a separate entity? ( 25575356 )
2015
17
Melorheostosis of the spine and ribs. ( 25912499 )
2015
18
Melorheostosis - Case Report of Rare Disease. ( 27298954 )
2014
19
Melorheostosis mimicking synovial osteochondromatosis. ( 25971832 )
2014
20
Melorheostosis: Two atypical cases. ( 25024532 )
2014
21
Extensive melorheostosis of the ribs demonstrated on (18)F-Fluoride PET/CT. ( 25367750 )
2014
22
Melorheostosis of the hand affecting the c6 sclerotome and presenting with carpal tunnel syndrome. ( 24763843 )
2014
23
Melorheostosis: a rare entity: a case report. ( 25489356 )
2014
24
Severe valgus deformity of the knee with permanent patellar dislocation associated with melorheostosis: A case report and review of the literature. ( 23306029 )
2013
25
Successful Treatment of the Pain Associated With Melorheostosis With Spinal Cord Stimulation: A Case Study. ( 23663163 )
2013
26
Melorheostosis and central giant cell granuloma of the mandible in a 15-year-old girl. ( 24119529 )
2013
27
Successful treatment of pain in melorheostosis with zoledronate, with improvement on bone scintigraphy. ( 23813581 )
2013
28
Melorheostosis causing lumbar radiculopathy: a case report and a review of the literature. ( 23541445 )
2013
29
Melorheostosis and a review of the literature in China. ( 25343102 )
2013
30
Appearance of osteolysis with melorheostosis: redefining the disease or a new disorder? A novel case report with multimodality imaging. ( 23680113 )
2013
31
Melorheostosis associated with bilateral aneurysms of the intrarenal arteries. ( 23890790 )
2013
32
Three cases of melorheostosis with foot and ankle involvement. ( 22900256 )
2012
33
Unilateral nevoid telangiectasia associated with ipsilateral melorheostosis. ( 22577274 )
2012
34
Bone scintigraphy elucidates different metabolic stages of melorheostosis. ( 22514755 )
2012
35
Melorheostosis in the hand and forearm. ( 21849883 )
2012
36
Knee melorheostosis treated by drilling fenestration: a case report. ( 22615160 )
2012
37
Case report: Emergency department diagnosis of melorheostosis in the upper extremity: a rare disease with an unusual presentation. ( 20576391 )
2012
38
Surgical treatment of melorheostosis: report of two cases. ( 22531309 )
2012
39
Melorheostosis of the sacrum causing acute-onset neurological symptoms. ( 21667326 )
2011
40
Melorheostosis of the foot. ( 22191303 )
2011
41
Melorheostosis of the ulna. ( 22036140 )
2011
42
Arthroscopically assisted knee contracture release secondary to melorheostosis: a case report. ( 20490459 )
2011
43
Melorheostosis of the thumb and trapezium bone. ( 22379444 )
2011
44
Detection of extensive melorheostosis on bone scintigram performed for suspected metastases. ( 21285690 )
2011
45
Melorheostosis and its treatment with intravenous zoledronic acid. ( 22479293 )
2010
46
Linear scleroderma in association with melorheostosis. ( 20216133 )
2010
47
Melorheostosis of the humerus: a rare differential diagnosis of carpal tunnel syndrome. ( 20299264 )
2010
48
An unusual case of sciatic neuropraxia due to melorheostosis. ( 20594895 )
2010
49
Classical and unusual imaging appearances of melorheostosis. ( 20599060 )
2010
50
Melorheostosis: a rare aetiology for trigger-finger. ( 20444786 )
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:

id 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:

id 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 response to glucocorticoid GO:0051384 9.4 BMP6 SPARC
4 positive regulation of endothelial cell proliferation GO:0001938 9.37 BMP6 FGF2
5 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.32 LEMD3 SMAD2
6 somatic stem cell population maintenance GO:0035019 9.26 FGF2 SMAD2
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 8.8 FGF2 POSTN SPARC

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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