MEL
MCID: MLR023
MIFTS: 31

Melorheostosis, Isolated (MEL)

Categories: Bone diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Melorheostosis, Isolated

MalaCards integrated aliases for Melorheostosis, Isolated:

Name: Melorheostosis, Isolated 57
Melorheostosis 59 74 72
Mel 57 74

Characteristics:

Orphanet epidemiological data:

59
melorheostosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
progressive disorder
onset in childhood
segmental distribution often affecting 1 limb


HPO:

32
melorheostosis, isolated:
Inheritance sporadic
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 57 155950
MESH via Orphanet 45 D008557
ICD10 via Orphanet 34 M85.8
UMLS via Orphanet 73 C0025239
Orphanet 59 ORPHA2485
UMLS 72 C0025239

Summaries for Melorheostosis, Isolated

OMIM : 57 Melorheostosis (MEL) is characterized by 'flowing' hyperostosis of the cortex of tubular bones. The lesions are usually asymmetric and involve only 1 limb or correspond to a particular sclerotome. They may be accompanied by abnormalities of adjacent soft tissue, including joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangiomas (review by Hellemans et al., 2004). The designation combines root words meaning 'limb,' 'flow,' and 'bone.' Melorheostosis may sometimes be a feature of Buschke-Ollendorff syndrome (BOS; 166700), a benign disorder which is caused by mutation in the LEMD3 gene (607844). Although germline or somatic LEMD3 mutations had been postulated to cause isolated melorheostosis (Butkus et al., 1997; Debeer et al., 2003; Happle, 2004; Hellemans et al., 2004), several studies have not been able to prove this (Hellemans et al., 2004; Mumm et al., 2007; Zhang et al., 2009). (155950)

MalaCards based summary : Melorheostosis, Isolated, also known as melorheostosis, is related to melorheostosis with osteopoikilosis and buschke-ollendorff syndrome. Affiliated tissues include bone, skin and cortex, and related phenotypes are hyperostosis and increased bone mineral density

UniProtKB/Swiss-Prot : 74 Melorheostosis: Rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur.

Related Diseases for Melorheostosis, Isolated

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

(show top 50) (show all 168)
# Related Disease Score Top Affiliating Genes
1 melorheostosis with osteopoikilosis 12.7
2 buschke-ollendorff syndrome 12.2
3 melorheostosis 11.7
4 hyperostosis 10.8
5 erythroleukemia, familial 10.8
6 osteopoikilosis 10.7
7 systemic scleroderma 10.6
8 melanoma 10.5
9 bone disease 10.5
10 astigmatism 10.5
11 linear scleroderma 10.5
12 primary bone dysplasia with increased bone density 10.5
13 myopia 10.5
14 sleeping sickness 10.4
15 trypanosomiasis, human east-african 10.4
16 trypanosomiasis 10.4
17 refractive error 10.4
18 microphthalmia 10.3
19 endosteal hyperostosis, autosomal dominant 10.3
20 myositis 10.2
21 osteogenic sarcoma 10.2
22 myositis ossificans 10.2
23 fibromatosis 10.2
24 mucositis 10.2
25 onchocerciasis 10.2
26 acute graft versus host disease 10.2
27 carpal tunnel syndrome 10.2
28 neurofibromatosis, type iv, of riccardi 10.2
29 fibrous dysplasia 10.2
30 hypertrichosis 10.2
31 lymphatic malformations 10.2
32 synovial chondromatosis 10.2
33 aneurysm 10.2
34 back pain 10.2
35 chronic pain 10.2
36 presbyopia 10.1
37 irregular astigmatism 10.1
38 lipomatosis, multiple 10.1
39 bone resorption disease 10.1
40 desmoid tumor 10.1
41 pleomorphic lipoma 10.1
42 nephrotic syndrome 10.1
43 osteopetrosis 10.1
44 dysostosis 10.1
45 arthritis 10.1
46 skeletal dysplasias 10.1
47 breast cancer 10.1
48 ocular motor apraxia 10.1
49 hamamy syndrome 10.1
50 deficiency anemia 10.1

Graphical network of the top 20 diseases related to Melorheostosis, Isolated:



Diseases related to Melorheostosis, Isolated

Symptoms & Phenotypes for Melorheostosis, Isolated

Human phenotypes related to Melorheostosis, Isolated:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperostosis 59 32 Very frequent (99-80%) HP:0100774
2 increased bone mineral density 59 32 Very frequent (99-80%) HP:0011001
3 failure to thrive 59 Very frequent (99-80%)
4 arthritis 59 Occasional (29-5%)
5 skeletal dysplasia 59 Very frequent (99-80%)
6 joint stiffness 59 Very frequent (99-80%)
7 cranial nerve paralysis 59 Very frequent (99-80%)
8 arthralgia 59 Very frequent (99-80%)
9 skeletal muscle atrophy 59 Very frequent (99-80%)
10 lymphedema 59 Very frequent (99-80%)
11 atypical scarring of skin 59 Occasional (29-5%)
12 abnormality of the skeletal system 59 Very frequent (99-80%)
13 bone pain 59 Very frequent (99-80%)
14 ectopic ossification in muscle tissue 59 Very frequent (99-80%)
15 lower limb asymmetry 59 Frequent (79-30%)
16 peripheral arteriovenous fistula 59 Occasional (29-5%)
17 upper limb asymmetry 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
contractures over affected bones
flexion deformities over affected bones
melorheostosis
flowing hyperostosis of bone cortex
osteosclerosis (lesions mainly affect diaphyses of long bones, hands, feet, and pelvis although epiphyses may also be affected)

Skin Nails Hair Skin:
skin atrophy over affected bones
sclerotic soft tissue over affected bones

Clinical features from OMIM:

155950

Drugs & Therapeutics for Melorheostosis, Isolated

Interventional clinical trials:


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

Search NIH Clinical Center for Melorheostosis, Isolated

Genetic Tests for Melorheostosis, Isolated

Anatomical Context for Melorheostosis, Isolated

MalaCards organs/tissues related to Melorheostosis, Isolated:

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

Publications for Melorheostosis, Isolated

Articles related to Melorheostosis, Isolated:

(show top 50) (show all 410)
# Title Authors PMID Year
1
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. 38 8
19438932 2009
2
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. 38 8
17087626 2007
3
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. 38 8
15489854 2004
4
Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis. 38 8
14994228 2004
5
Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. 38 8
12749062 2003
6
Melorheostosis in a patient with familial osteopoikilosis. 38 8
9295073 1997
7
Melorheostosis and somatic mosaicism. 38 8
8533816 1995
8
Melorheostosis with associated minimal change nephrotic syndrome, mesenteric fibromatosis and capillary haemangiomas. 38 8
8136548 1994
9
Melorheostosis in a 3-year-old girl. 38 8
7211352 1980
10
Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. 8
8958340 1996
11
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series. 38
31129707 2019
12
Osteoma-like melorheostosis: a rare type of skeletal dysplasia depicted on FDG PET/CT. 38
30680447 2019
13
Melorheostosis: A Clinical, Pathologic, and Radiologic Case Series. 38
31386640 2019
14
Melorheostosis: a rare sclerosing bone dysplasia. Usefulness of bone scintigraphy. 38
30975488 2019
15
Melorheostosis with an associated para-articular enhancing soft tissue mass. 38
30825667 2019
16
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. 38
30989250 2019
17
Melorheostosis in the pediatric hand. 38
31110758 2019
18
Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction. 38
30667555 2019
19
Melorheostosis causing compression of the common peroneal nerve at the fibular tunnel: a case report. 38
31051308 2019
20
Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations. 38
30138550 2019
21
CT analysis of anatomical distribution of melorheostosis challenges the sclerotome hypothesis. 38
30218789 2018
22
Structural basis for receptor-regulated SMAD recognition by MAN1. 38
30321401 2018
23
Melorheostosis of The Leg: A Case Report. 38
30647832 2018
24
Clinical improvement in a patient with monostotic melorheostosis after treatment with denosumab: a case report. 38
30257703 2018
25
Melorheostosis of a rib. 38
29997717 2018
26
Somatic activating mutations in MAP2K1 cause melorheostosis. 38
29643386 2018
27
Arthritis in Melorheostosis-An Uncommon Feature in a Rare Disease. 38
29108116 2018
28
Debridement arthroplasty of a rare case of elbow stiffness. A case report and literature review. 38
30312962 2018
29
Managing Recurrence in Intraarticular Melorheostosis Involving the Knee Joint: A Case Report. 38
29242791 2017
30
Melorheostosis: a Rare Sclerosing Bone Dysplasia. 38
28676968 2017
31
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. 38
28434888 2017
32
18F-NaF PET/CT in Extensive Melorheostosis of the Axial and Appendicular Skeleton With Soft-Tissue Involvement. 38
28319505 2017
33
Melorheostosis-Foot and ankle perspective. 38
28544914 2017
34
Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic. 38
27485676 2017
35
Melorheostosis with recurrent soft-tissue components: a histologically confirmed case. 38
28062900 2017
36
A Unique Case of Melorheostosis Presenting with Two Radiologically Distinct Lesions in the Shoulder. 38
29234550 2017
37
Poster 442 Intractable Pelvic Pain Due to Melorheostosis Managed with Spinal Cord Stimulation: A Case Report. 38
27673191 2016
38
Pelvic Pain Due to Ischial Tuberosity and Acetabular Melorheostosis-Multimodal Image Presentation. 38
26968610 2016
39
Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders. 38
26898950 2016
40
Characterization of hypertrophic osteoarthropathy in an identified skeleton from Évora, Portugal, using combined and comparative morphology and microscopy. 38
29539516 2016
41
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. 38
27299136 2016
42
Detection of melorheostosis in a young lady with upper limb pain on Three Phase Bone Scintigram/SPECT-CT. 38
27252746 2016
43
A skeletal case of hypertrophic osteoarthropathy from the Canary Islands dating from 1000 BP. 38
28802962 2015
44
Melorheostosis involving the hand. 38
25708729 2015
45
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. 38
26135202 2015
46
Melorheostosis of the spine and ribs. 38
25912499 2015
47
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty. 38
29252609 2015
48
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty: A Case Report. 38
29252695 2015
49
Arthroscopic findings in melorheostosis. 38
25807097 2015
50
Melorheostosis: segmental osteopoikilosis or a separate entity? 38
25575356 2015

Variations for Melorheostosis, Isolated

Expression for Melorheostosis, Isolated

Search GEO for disease gene expression data for Melorheostosis, Isolated.

Pathways for Melorheostosis, Isolated

GO Terms for Melorheostosis, Isolated

Sources for Melorheostosis, Isolated

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73 UMLS via Orphanet
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