MCID: MLR010
MIFTS: 24

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 54 60 13 41
Mixed Sclerosing Bone Dystrophy 54 60
Msbd Syndrome 54 60
Osteopoikilosis with Melorheostosis 6
Dystrophy Osseous Sclerosing Mixed 54

Characteristics:

Orphanet epidemiological data:

60
melorheostosis with osteopoikilosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 35 M85.8
UMLS via Orphanet 75 C2931505 C3149695
Orphanet 60 ORPHA1879

Summaries for Melorheostosis with Osteopoikilosis

NIH Rare Diseases : 54 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 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:

# Related Disease Score Top Affiliating Genes
1 mixed sclerosing bone dystrophy with extra-skeletal manifestations 12.4
2 osteopetrosis 10.2
3 melorheostosis, isolated 10.2
4 conn's syndrome 10.2
5 melorheostosis 10.2
6 hemangioma 10.0
7 osteopoikilosis 10.0
8 capillary hemangioma 10.0
9 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:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal cortical bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0003103
2 osteopoikilosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0010739
3 complete duplication of the distal phalanges of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0010001
4 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
5 subcutaneous nodule 60 33 occasional (7.5%) Occasional (29-5%) HP:0001482
6 multiple lipomas 60 33 occasional (7.5%) Occasional (29-5%) HP:0001012
7 abnormality of the skin 60 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:

42
Bone, Skin

Publications for Melorheostosis with Osteopoikilosis

Articles related to Melorheostosis with Osteopoikilosis:

(show all 16)
# Title Authors Year
1
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. ( 19438932 )
2009
2
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. ( 17087626 )
2007
3
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. ( 15489854 )
2004
4
Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. ( 12749062 )
2003
5
Melorheostosis in a patient with familial osteopoikilosis. ( 9295073 )
1997
6
Mixed sclerosing bone dystrophy. Report of a case and review of the literature. ( 8853172 )
1996
7
An unusual case of mixed sclerosing bone dystrophy presenting with morning stiffness and joint swelling in childhood: a case report. ( 7586791 )
1995
8
Mixed sclerosing bone dystrophy presenting with upper extremity deformities. A case report and review of the literature. ( 1640136 )
1992
9
Mixed-sclerosing-bone-dystrophy (osteopathia striata and osteopetrosis) and Cushing's syndrome. ( 2064841 )
1991
10
Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata. ( 1914421 )
1991
11
Mixed-sclerosing-bone-dystrophy (osteopathia striata and osteopetrosis) and Cushing's syndrome. ( 2390377 )
1990
12
Mixed-sclerosing-bone-dystrophy: 42-year follow-up of a case reported as osteopetrosis. ( 3085895 )
1986
13
Mixed-sclerosing-bone-dystrophy: report of a case and review of the literature. ( 7256311 )
1981
14
Letter: Mixed sclerosing bone dystrophy with regression of melorheostosis. ( 1276586 )
1976
15
Mixed sclerosing bone dystrophy with regression of melorheostosis. ( 1139098 )
1975
16
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

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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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