MCID: MLR003
MIFTS: 45

Melorheostosis

Categories: Bone diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Melorheostosis

MalaCards integrated aliases for Melorheostosis:

Name: Melorheostosis 12 54 26 30 56 45 15 74
Melorheostosis, Isolated 26
Hyperostosis, Monomelic 26
Melorheostosis of Leri 26
Periostitis; Monomelic 26
Flowing Hyperostosis 26
Candle Wax Disease 26
Leri's Disease 26
Melorheostoses 26
Leri Syndrome 26
Rheostosis 26

Classifications:



Summaries for Melorheostosis

NIH Rare Diseases : 54 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 Pathways in cancer and Gastric cancer. Affiliated tissues include bone, cortex and skin, and related phenotypes are failure to thrive and skeletal dysplasia

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 : 26 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 : 77 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 32.9 LEMD3 SMAD2
2 osteopoikilosis 30.7 LEMD3 SMAD2
3 melorheostosis, isolated 12.7
4 melorheostosis with osteopoikilosis 12.7
5 roch-leri mesosomatous lipomatosis 11.1
6 systemic scleroderma 10.3
7 linear scleroderma 10.3
8 carpal tunnel syndrome 10.1
9 mononeuropathy of the median nerve, mild 10.1
10 arthritis 10.1
11 hypertrichosis 10.1
12 neurofibroma 10.1
13 fibromatosis 10.1
14 vitreous disease 9.9 FGF2 SMAD2
15 endosteal hyperostosis, autosomal dominant 9.9
16 klippel-trenaunay-weber syndrome 9.9
17 rheumatoid arthritis 9.9
18 trichodentoosseous syndrome 9.9
19 human venous malformation 9.9
20 osteopetrosis 9.9
21 desmoid tumor 9.9
22 rickets 9.9
23 spondyloarthropathy 9.9
24 nephrotic syndrome 9.9
25 patulous eustachian tube 9.9
26 telangiectasis 9.9
27 renovascular hypertension 9.9
28 giant cell reparative granuloma 9.9
29 malignant fibroxanthoma 9.9
30 bone inflammation disease 9.9
31 histiocytoma 9.9
32 radiculopathy 9.9
33 fibrous histiocytoma 9.9
34 ischemic fasciitis 9.9
35 synovial chondromatosis 9.9
36 undifferentiated pleomorphic sarcoma 9.9
37 weber syndrome 9.9
38 angioosteohypertrophic syndrome 9.9
39 juvenile pilocytic astrocytoma 9.9 FGF2 MAP2K1
40 vitreoretinopathy, neovascular inflammatory 9.7 FGF2 SPARC
41 peripheral osteosarcoma 9.7 POSTN SPARC
42 chondrosarcoma 9.6 FGF2 SPARC
43 pulmonary fibrosis, idiopathic 9.1 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:

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

MGI Mouse Phenotypes related to Melorheostosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 FGF2 LEMD3 MAP2K1 POSTN SMAD2
2 cellular MP:0005384 9.72 FGF2 LEMD3 MAP2K1 POSTN SMAD2
3 craniofacial MP:0005382 9.56 MAP2K1 POSTN SMAD2 SPARC
4 neoplasm MP:0002006 9.55 FGF2 MAP2K1 POSTN SMAD2 SPARC
5 skeleton MP:0005390 9.35 FGF2 MAP2K1 POSTN SMAD2 SPARC
6 vision/eye MP:0005391 8.92 FGF2 MAP2K1 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 30

Anatomical Context for Melorheostosis

MalaCards organs/tissues related to Melorheostosis:

42
Bone, Cortex, Skin, Skeletal Muscle, Spinal Cord

Publications for Melorheostosis

Articles related to Melorheostosis:

(show top 50) (show all 243)
# Title Authors Year
1
Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations. ( 30138550 )
2019
2
Osteoma-like melorheostosis: a rare type of skeletal dysplasia depicted on FDG PET/CT. ( 30680447 )
2019
3
Melorheostosis with an associated para-articular enhancing soft tissue mass. ( 30825667 )
2019
4
Melorheostosis: a rare sclerosing bone dysplasia. Usefulness of bone scintigraphy. ( 30975488 )
2019
5
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. ( 30989250 )
2019
6
Melorheostosis causing compression of the common peroneal nerve at the fibular tunnel: a case report. ( 31051308 )
2019
7
Melorheostosis in the pediatric hand. ( 31110758 )
2019
8
Arthritis in Melorheostosis-An Uncommon Feature in a Rare Disease. ( 29108116 )
2018
9
Somatic activating mutations in MAP2K1 cause melorheostosis. ( 29643386 )
2018
10
Melorheostosis of a rib. ( 29997717 )
2018
11
CT analysis of anatomical distribution of melorheostosis challenges the sclerotome hypothesis. ( 30218789 )
2018
12
Clinical improvement in a patient with monostotic melorheostosis after treatment with denosumab: a case report. ( 30257703 )
2018
13
Melorheostosis of The Leg: A Case Report. ( 30647832 )
2018
14
Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic. ( 27485676 )
2017
15
Melorheostosis with recurrent soft-tissue components: a histologically confirmed case. ( 28062900 )
2017
16
18F-NaF PET/CT in Extensive Melorheostosis of the Axial and Appendicular Skeleton With Soft-Tissue Involvement. ( 28319505 )
2017
17
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. ( 28434888 )
2017
18
Melorheostosis-Foot and ankle perspective. ( 28544914 )
2017
19
Melorheostosis: a Rare Sclerosing Bone Dysplasia. ( 28676968 )
2017
20
A Unique Case of Melorheostosis Presenting with Two Radiologically Distinct Lesions in the Shoulder. ( 29234550 )
2017
21
Managing Recurrence in Intraarticular Melorheostosis Involving the Knee Joint: A Case Report. ( 29242791 )
2017
22
Pelvic Pain Due to Ischial Tuberosity and Acetabular Melorheostosis-Multimodal Image Presentation. ( 26968610 )
2016
23
Detection of melorheostosis in a young lady with upper limb pain on Three Phase Bone Scintigram/SPECT-CT. ( 27252746 )
2016
24
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
25
Poster 442 Intractable Pelvic Pain Due to Melorheostosis Managed with Spinal Cord Stimulation: A Case Report. ( 27673191 )
2016
26
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. ( 26135202 )
2015
27
Extensive melorheostosis of the ribs demonstrated on 18F-Fluoride PET/CT. ( 25367750 )
2015
28
Melorheostosis: segmental osteopoikilosis or a separate entity? ( 25575356 )
2015
29
Incidentally diagnosed melorheostosis of upper limb: case report. ( 25637225 )
2015
30
Melorheostosis involving the hand. ( 25708729 )
2015
31
Melorheostosis. ( 25798011 )
2015
32
Arthroscopic findings in melorheostosis. ( 25807097 )
2015
33
Melorheostosis of the spine and ribs. ( 25912499 )
2015
34
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty. ( 29252609 )
2015
35
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty: A Case Report. ( 29252695 )
2015
36
[Melorheostosis associated with bilateral aneurysms of the intrarenal arteries]. ( 23890790 )
2015
37
Melorheostosis of the hand affecting the c6 sclerotome and presenting with carpal tunnel syndrome. ( 24763843 )
2014
38
Severe valgus deformity of the knee with permanent patellar dislocation associated with melorheostosis: a case report and review of the literature. ( 23306029 )
2014
39
Successful treatment of the pain associated with melorheostosis with spinal cord stimulation: a case study. ( 23663163 )
2014
40
Melorheostosis: Two atypical cases. ( 25024532 )
2014
41
Melorheostosis: a rare entity: a case report. ( 25489356 )
2014
42
Melorheostosis mimicking synovial osteochondromatosis. ( 25971832 )
2014
43
Melorheostosis - Case Report of Rare Disease. ( 27298954 )
2014
44
Melorheostosis causing lumbar radiculopathy: a case report and a review of the literature. ( 23541445 )
2013
45
Appearance of osteolysis with melorheostosis: redefining the disease or a new disorder? A novel case report with multimodality imaging. ( 23680113 )
2013
46
Successful treatment of pain in melorheostosis with zoledronate, with improvement on bone scintigraphy. ( 23813581 )
2013
47
Melorheostosis and central giant cell granuloma of the mandible in a 15-year-old girl. ( 24119529 )
2013
48
Melorheostosis and a review of the literature in China. ( 25343102 )
2013
49
Case report: Emergency department diagnosis of melorheostosis in the upper extremity: a rare disease with an unusual presentation. ( 20576391 )
2012
50
Melorheostosis in the hand and forearm. ( 21849883 )
2012

Variations for Melorheostosis

Expression for Melorheostosis

Search GEO for disease gene expression data for Melorheostosis.

Pathways for Melorheostosis

GO Terms for Melorheostosis

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.58 FGF2 MAP2K1 SMAD2
2 activation of MAPK activity GO:0000187 9.43 FGF2 MAP2K1
3 lung development GO:0030324 9.37 SMAD2 SPARC
4 heart development GO:0007507 9.33 MAP2K1 SMAD2 SPARC
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 extracellular matrix organization GO:0030198 9.13 FGF2 POSTN SPARC
8 wound healing GO:0042060 8.92 FGF2 POSTN SMAD2 SPARC

Sources for Melorheostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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