MCID: MLR003
MIFTS: 46

Melorheostosis

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Melorheostosis

MalaCards integrated aliases for Melorheostosis:

Name: Melorheostosis 12 53 25 29 55 44 15 73
Melorheostosis, Isolated 25
Hyperostosis, Monomelic 25
Melorheostosis of Leri 25
Periostitis; Monomelic 25
Flowing Hyperostosis 25
Candle Wax Disease 25
Leri's Disease 25
Melorheostoses 25
Leri Syndrome 25
Rheostosis 25

Classifications:



Summaries for Melorheostosis

NIH Rare Diseases : 53 Melorheostosis is a rare skeletal abnormality that causes abnormal growth of new bone tissue on top of existing bones. Signs and symptoms typically appear by late childhood or adolescence. Signs and symptoms may include deformity, contracture, chronic pain, stiffness, and limited range of motion. In some cases, the overlying skin and soft tissue may show thickening, shininess, reddening or darkening, linear scleroderma, and/or swelling. The condition typically affects the long bones, and the legs are affected more often than the arms. Sometimes the small bones of the hand or foot are affected, and rarely, bones of the skull or trunk are affected. The condition is sometimes associated with other bone or connective tissue abnormalities. The diagnosis is based on a combination of clinical and radiological features, which are used to distinguish melorheostosis from other bone disorders. Isolated melorheostosis (with no other associated disorders) is typically sporadic, occurring in people with no family history of the condition. Around half of cases of isolated melorheostosis are due to acquired, somatic mutations in the MAP2K1 gene; these mutations are not inherited from a parent and occur randomly during a person's lifetime. In the remainder of cases, the cause is not yet known. Somatic mutations in other, unidentified genes may also cause the disorder. Some people with melorheostosis associated with other bone disorders (specifically osteopoikilosis and Buschke–Ollendorff syndrome) have heritable mutations in the LEMD3 gene, but mutations in this gene are not thought to be responsible for isolated melorheostosis. Management depends on the severity and symptoms in each person and aims to relieve pain, correct deformity, and restore movement. Management options may include medications, physical therapy, occupational therapy, and/or orthopedic surgery. Melorheostosis is not life-threatening, but chronic pain can greatly impact quality of life.

MalaCards based summary : Melorheostosis, also known as melorheostosis, isolated, is related to buschke-ollendorff syndrome and osteopoikilosis. An important gene associated with Melorheostosis is LEMD3 (LEM Domain Containing 3), and among its related pathways/superpathways are Immune response IFN gamma signaling pathway and TGF-beta signaling pathway (KEGG). Affiliated tissues include bone, cortex and skin, and related phenotypes are atypical scarring of skin and lymphedema

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

Genetics Home Reference : 25 Melorheostosis is a rare bone disease. It causes the abnormal growth of new bone tissue on the surface of existing bones. The new bone has a characteristic appearance on x-rays, often described as "flowing" or like dripping candle wax. The excess bone growth typically occurs on the bones in one arm or leg, although it can also affect the pelvis, breastbone (sternum), ribs, or other bones. (The term "melorheostosis" is derived from the Greek words "melos," which means limb; "rheos," which means flow; and "ostosis," which refers to bone formation.) The abnormal bone growth associated with melorheostosis is noncancerous (benign), and it does not spread from one bone to another.

Wikipedia : 76 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 43)
# Related Disease Score Top Affiliating Genes
1 buschke-ollendorff syndrome 32.7 LEMD3 SMAD2
2 osteopoikilosis 30.5 LEMD3 SMAD2
3 melorheostosis with osteopoikilosis 12.4
4 melorheostosis, isolated 12.4
5 roch-leri mesosomatous lipomatosis 10.9
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 9.7 FGF2 LEMD3
18 klippel-trenaunay-weber syndrome 9.7
19 rheumatoid arthritis 9.7
20 trichodentoosseous syndrome 9.7
21 osteopetrosis 9.7
22 rickets 9.7
23 nephrotic syndrome 9.7
24 renovascular hypertension 9.7
25 malignant fibroxanthoma 9.7
26 cervicitis 9.7
27 histiocytoma 9.7
28 radiculopathy 9.7
29 fibrous histiocytoma 9.7
30 desmoid tumor 9.7
31 synovial chondromatosis 9.7
32 weber syndrome 9.7
33 back pain 9.7
34 dupuytren contracture 9.7 BMP6 FGF2
35 juvenile nasopharyngeal angiofibroma 9.6 BMP6 FGF2
36 vitreous disease 9.5 FGF2 SMAD2
37 idiopathic hypercalciuria 9.5 BMP6 FGF2
38 vitreoretinopathy, neovascular inflammatory 9.5 FGF2 SPARC
39 renal fibrosis 9.5 BMP6 SMAD2
40 crouzon syndrome 9.4 BMP6 FGF2
41 dry eye syndrome 9.3 BMP6 FGF2
42 chondrosarcoma 9.0 FGF2 SPARC
43 pulmonary fibrosis, idiopathic 7.8 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:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 atypical scarring of skin 32 occasional (7.5%) HP:0000987
2 lymphedema 32 hallmark (90%) HP:0001004
3 arthritis 32 occasional (7.5%) HP:0001369
4 joint stiffness 32 hallmark (90%) HP:0001387
5 failure to thrive 32 hallmark (90%) HP:0001508
6 skeletal dysplasia 32 hallmark (90%) HP:0002652
7 bone pain 32 hallmark (90%) HP:0002653
8 arthralgia 32 hallmark (90%) HP:0002829
9 skeletal muscle atrophy 32 hallmark (90%) HP:0003202
10 cranial nerve paralysis 32 hallmark (90%) HP:0006824
11 increased bone mineral density 32 hallmark (90%) HP:0011001
12 ectopic ossification in muscle tissue 32 hallmark (90%) HP:0011987
13 lower limb asymmetry 32 frequent (33%) HP:0100559
14 upper limb asymmetry 32 frequent (33%) HP:0100560
15 hyperostosis 32 hallmark (90%) HP:0100774
16 peripheral arteriovenous fistula 32 occasional (7.5%) HP:0100784

MGI Mouse Phenotypes related to Melorheostosis:

46
# 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 29 LEMD3

Anatomical Context for Melorheostosis

MalaCards organs/tissues related to Melorheostosis:

41
Bone, Cortex, Skin, Skeletal Muscle, Spinal Cord

Publications for Melorheostosis

Articles related to Melorheostosis:

(show top 50) (show all 228)
# Title Authors Year
1
Somatic activating mutations in MAP2K1 cause melorheostosis. ( 29643386 )
2018
2
Melorheostosis with recurrent soft-tissue components: a histologically confirmed case. ( 28062900 )
2017
3
18F-NaF PET/CT in Extensive Melorheostosis of the Axial and Appendicular Skeleton With Soft-Tissue Involvement. ( 28319505 )
2017
4
Clinical Images: Arthritis in melorheostosis-an uncommon feature in a rare disease. ( 29108116 )
2017
5
A Unique Case of Melorheostosis Presenting with Two Radiologically Distinct Lesions in the Shoulder. ( 29234550 )
2017
6
Melorheostosis: a Rare Sclerosing Bone Dysplasia. ( 28676968 )
2017
7
Managing Recurrence in Intraarticular Melorheostosis Involving the Knee Joint: A Case Report. ( 29242791 )
2017
8
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. ( 28434888 )
2017
9
Melorheostosis-Foot and ankle perspective. ( 28544914 )
2017
10
Pelvic Pain Due to Ischial Tuberosity and Acetabular Melorheostosis-Multimodal Image Presentation. ( 26968610 )
2016
11
Poster 442 Intractable Pelvic Pain Due to Melorheostosis Managed with Spinal Cord Stimulation: A Case Report. ( 27673191 )
2016
12
Detection of melorheostosis in a young lady with upper limb pain on Three Phase Bone Scintigram/SPECT-CT. ( 27252746 )
2016
13
Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic. ( 27485676 )
2016
14
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
15
Melorheostosis of the spine and ribs. ( 25912499 )
2015
16
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty: A Case Report. ( 29252695 )
2015
17
Incidentally diagnosed melorheostosis of upper limb: case report. ( 25637225 )
2015
18
Melorheostosis involving the hand. ( 25708729 )
2015
19
Melorheostosis. ( 25798011 )
2015
20
Arthroscopic findings in melorheostosis. ( 25807097 )
2015
21
Melorheostosis: segmental osteopoikilosis or a separate entity? ( 25575356 )
2015
22
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty. ( 29252609 )
2015
23
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. ( 26135202 )
2015
24
Melorheostosis - Case Report of Rare Disease. ( 27298954 )
2014
25
Extensive melorheostosis of the ribs demonstrated on (18)F-Fluoride PET/CT. ( 25367750 )
2014
26
Melorheostosis: a rare entity: a case report. ( 25489356 )
2014
27
Melorheostosis of the hand affecting the c6 sclerotome and presenting with carpal tunnel syndrome. ( 24763843 )
2014
28
Melorheostosis: Two atypical cases. ( 25024532 )
2014
29
Melorheostosis mimicking synovial osteochondromatosis. ( 25971832 )
2014
30
Melorheostosis and central giant cell granuloma of the mandible in a 15-year-old girl. ( 24119529 )
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
Melorheostosis associated with bilateral aneurysms of the intrarenal arteries. ( 23890790 )
2013
34
Melorheostosis causing lumbar radiculopathy: a case report and a review of the literature. ( 23541445 )
2013
35
Successful treatment of pain in melorheostosis with zoledronate, with improvement on bone scintigraphy. ( 23813581 )
2013
36
Successful Treatment of the Pain Associated With Melorheostosis With Spinal Cord Stimulation: A Case Study. ( 23663163 )
2013
37
Appearance of osteolysis with melorheostosis: redefining the disease or a new disorder? A novel case report with multimodality imaging. ( 23680113 )
2013
38
Knee melorheostosis treated by drilling fenestration: a case report. ( 22615160 )
2012
39
Case report: Emergency department diagnosis of melorheostosis in the upper extremity: a rare disease with an unusual presentation. ( 20576391 )
2012
40
Surgical treatment of melorheostosis: report of two cases. ( 22531309 )
2012
41
Three cases of melorheostosis with foot and ankle involvement. ( 22900256 )
2012
42
Bone scintigraphy elucidates different metabolic stages of melorheostosis. ( 22514755 )
2012
43
Unilateral nevoid telangiectasia associated with ipsilateral melorheostosis. ( 22577274 )
2012
44
Melorheostosis in the hand and forearm. ( 21849883 )
2012
45
Detection of extensive melorheostosis on bone scintigram performed for suspected metastases. ( 21285690 )
2011
46
Melorheostosis of the ulna. ( 22036140 )
2011
47
Melorheostosis of the sacrum causing acute-onset neurological symptoms. ( 21667326 )
2011
48
Arthroscopically assisted knee contracture release secondary to melorheostosis: a case report. ( 20490459 )
2011
49
Melorheostosis of the thumb and trapezium bone. ( 22379444 )
2011
50
Melorheostosis of the foot. ( 22191303 )
2011

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 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.4 LEMD3 SMAD2
4 positive regulation of endothelial cell proliferation GO:0001938 9.37 BMP6 FGF2
5 response to glucocorticoid GO:0051384 9.32 BMP6 SPARC
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 8.92 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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