MCID: MLR010
MIFTS: 23

Melorheostosis with Osteopoikilosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Melorheostosis with Osteopoikilosis

MalaCards integrated aliases for Melorheostosis with Osteopoikilosis:

Name: Melorheostosis with Osteopoikilosis 52 58 39
Mixed Sclerosing Bone Dystrophy 52 58
Msbd Syndrome 52 58
Osteopoikilosis with Melorheostosis 6
Dystrophy Osseous Sclerosing Mixed 52

Characteristics:

Orphanet epidemiological data:

58
melorheostosis with osteopoikilosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 M85.8
UMLS via Orphanet 72 C2931505 C3149695
Orphanet 58 ORPHA1879

Summaries for Melorheostosis with Osteopoikilosis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1879 Definition Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Epidemiology Less than 5 families have been reported in the literature to date. Clinical description As osteopoikilosis is a benign, usually asymptomatic condition, the clinical signs are primarily those of melorheostosis that can manifest with joint contractures , pain, stiffness, limited joint functions, limb-length discrepancy and deformity. Etiology The combination of melorheostosis with osteopoikilosis may be an unusual complication of familial osteopoikilosis. Osteopoikilosis is caused by a germline mutation in the LEMD3 gene (12q14). A germline mutation in the LEMD3 gene may predispose individuals with osteopoikilosis to develop melorheostosis. However, the exact pathogenesis is currently unknown. Genetic counseling Osteopoikilosis is inherited autosomal dominantly. There are no reports of parent to child transmission of melorheostosis. Genetic counseling is possible. Visit the Orphanet disease page for more resources.

MalaCards based summary : Melorheostosis with Osteopoikilosis, also known as mixed sclerosing bone dystrophy, is related to mixed sclerosing bone dystrophy with extra-skeletal manifestations and osteopetrosis. An important gene associated with Melorheostosis with Osteopoikilosis is LEMD3 (LEM Domain Containing 3). Affiliated tissues include bone and skin, and related phenotypes are abnormal cortical bone morphology and osteopoikilosis

Related Diseases for Melorheostosis with Osteopoikilosis

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 mixed sclerosing bone dystrophy with extra-skeletal manifestations 12.5
2 osteopetrosis 10.3
3 melorheostosis, isolated 10.2
4 osteopoikilosis 10.2
5 melorheostosis 10.2
6 endosteal hyperostosis, autosomal dominant 10.2
7 primary bone dysplasia with increased bone density 10.2
8 hypophosphatemia 10.0
9 fibrous dysplasia 10.0
10 secondary hyperparathyroidism 10.0
11 hyperparathyroidism 10.0
12 epicondylitis 10.0
13 hyperostosis 10.0
14 hemangioma 10.0
15 capillary hemangioma 10.0
16 adenoma 10.0
17 lymphangiectasis 10.0

Graphical network of the top 20 diseases related to Melorheostosis with Osteopoikilosis:



Diseases related to Melorheostosis with Osteopoikilosis

Symptoms & Phenotypes for Melorheostosis with Osteopoikilosis

Human phenotypes related to Melorheostosis with Osteopoikilosis:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
2 osteopoikilosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010739
3 complete duplication of the distal phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0010001
4 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
5 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
6 multiple lipomas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001012
7 abnormality of the skin 58 Occasional (29-5%)

Drugs & Therapeutics for Melorheostosis with Osteopoikilosis

Search Clinical Trials , NIH Clinical Center for Melorheostosis with Osteopoikilosis

Genetic Tests for Melorheostosis with Osteopoikilosis

Anatomical Context for Melorheostosis with Osteopoikilosis

MalaCards organs/tissues related to Melorheostosis with Osteopoikilosis:

40
Bone, Skin

Publications for Melorheostosis with Osteopoikilosis

Articles related to Melorheostosis with Osteopoikilosis:

# Title Authors PMID Year
1
Melorheostosis in a family with autosomal dominant osteopoikilosis. 61
10069713 1999
2
[Melorheostosis linear scleroderma with osteopoikilosis. Description of a clinical case]. 61
2631066 1989
3
[Melorheostosis with osteopoikilosis aspect and extensive sclero-atrophy]. 61
1273486 1976

Variations for Melorheostosis with Osteopoikilosis

ClinVar genetic disease variations for Melorheostosis with Osteopoikilosis:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LEMD3 LEMD3, 1609C-TSNV Pathogenic 2755
2 LEMD3 NM_014319.5(LEMD3):c.1963C>T (p.Arg655Ter)SNV Pathogenic 2759 rs267607217 12:65633750-65633750 12:65239970-65239970

Expression for Melorheostosis with Osteopoikilosis

Search GEO for disease gene expression data for Melorheostosis with Osteopoikilosis.

Pathways for Melorheostosis with Osteopoikilosis

GO Terms for Melorheostosis with Osteopoikilosis

Sources for Melorheostosis with Osteopoikilosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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