MCID: MLR010
MIFTS: 24

Melorheostosis with Osteopoikilosis

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Melorheostosis with Osteopoikilosis

MalaCards integrated aliases for Melorheostosis with Osteopoikilosis:

Name: Melorheostosis with Osteopoikilosis 53 59 13 40
Mixed Sclerosing Bone Dystrophy 53 59
Msbd Syndrome 53 59
Osteopoikilosis with Melorheostosis 6
Dystrophy Osseous Sclerosing Mixed 53

Characteristics:

Orphanet epidemiological data:

59
melorheostosis with osteopoikilosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA1879
UMLS via Orphanet 74 C2931505 C3149695
ICD10 via Orphanet 34 M85.8

Summaries for Melorheostosis with Osteopoikilosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1879Disease definitionMelorheostosis 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.EpidemiologyLess than 5 families have been reported in the literature to date.Clinical descriptionAs 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.EtiologyThe 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 counselingOsteopoikilosis 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 hypertension and multiple lipomas

Related Diseases for Melorheostosis with Osteopoikilosis

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

# Related Disease Score Top Affiliating Genes
1 mixed sclerosing bone dystrophy with extra-skeletal manifestations 12.2
2 osteopetrosis 10.1
3 conn's syndrome 10.0
4 melorheostosis 10.0
5 hemangioma 9.9
6 osteopoikilosis 9.9
7 capillary hemangioma 9.9
8 lymphangiectasis 9.9

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:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
2 multiple lipomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001012
3 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
4 abnormal cortical bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003103
5 complete duplication of the distal phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0010001
6 osteopoikilosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010739
7 abnormality of the skin 59 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:

41
Bone, Skin

Publications for Melorheostosis with Osteopoikilosis

Articles related to Melorheostosis with Osteopoikilosis:

(show all 11)
# Title Authors Year
1
Mixed sclerosing bone dystrophy. Report of a case and review of the literature. ( 8853172 )
1996
2
An unusual case of mixed sclerosing bone dystrophy presenting with morning stiffness and joint swelling in childhood: a case report. ( 7586791 )
1995
3
Mixed sclerosing bone dystrophy presenting with upper extremity deformities. A case report and review of the literature. ( 1640136 )
1992
4
Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata. ( 1914421 )
1991
5
Mixed-sclerosing-bone-dystrophy (osteopathia striata and osteopetrosis) and Cushing's syndrome. ( 2064841 )
1991
6
Mixed-sclerosing-bone-dystrophy (osteopathia striata and osteopetrosis) and Cushing's syndrome. ( 2390377 )
1990
7
Mixed-sclerosing-bone-dystrophy: 42-year follow-up of a case reported as osteopetrosis. ( 3085895 )
1986
8
Mixed-sclerosing-bone-dystrophy: report of a case and review of the literature. ( 7256311 )
1981
9
Letter: Mixed sclerosing bone dystrophy with regression of melorheostosis. ( 1276586 )
1976
10
Mixed sclerosing bone dystrophy with regression of melorheostosis. ( 1139098 )
1975
11
Unilateral mixed sclerosing bone dystrophy associated with unilateral lymphangiectasis and capillary hemangioma: a case report. ( 5055176 )
1972

Variations for Melorheostosis with Osteopoikilosis

ClinVar genetic disease variations for Melorheostosis with Osteopoikilosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LEMD3 LEMD3, 1609C-T single nucleotide variant Pathogenic
2 LEMD3 NM_014319.4(LEMD3): c.1963C> T (p.Arg655Ter) single nucleotide variant Pathogenic rs267607217 GRCh37 Chromosome 12, 65633750: 65633750
3 LEMD3 NM_014319.4(LEMD3): c.1963C> T (p.Arg655Ter) single nucleotide variant Pathogenic rs267607217 GRCh38 Chromosome 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 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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