MCID: OST014
MIFTS: 38

Osteopoikilosis

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Osteopoikilosis

MalaCards integrated aliases for Osteopoikilosis:

Name: Osteopoikilosis 12 76 53 55 6 44 15 73
Dermatofibrosis Lenticularis Disseminata 73
Osteopathia Condensans Disseminata 53
Spotted Bones 53

Classifications:



External Ids:

Disease Ontology 12 DOID:11991
ICD10 33 Q78.8
ICD9CM 35 756.53
MeSH 44 D010023
NCIt 50 C84985
SNOMED-CT 68 9147009

Summaries for Osteopoikilosis

NIH Rare Diseases : 53 Osteopoikilosis is a condition in which many small, roundish spots are found in the bones, particularly near the joints.  These spots are areas of bone tissue that did not develop properly and are exceptionally dense.  They usually do not cause symptoms and do not change over time.  Osteopoikilosis can be diagnosed at any age and is often detected by chance when an otherwise healthy individual has x-rays for an unrelated reason, such as injury.  This condition may occur randomly with no other features (sporadic), or may be inherited from a parent as a part of Buschke Ollendorff syndrome.

MalaCards based summary : Osteopoikilosis, also known as dermatofibrosis lenticularis disseminata, is related to melorheostosis and buschke-ollendorff syndrome, and has symptoms including joint stiffness An important gene associated with Osteopoikilosis is LEMD3 (LEM Domain Containing 3), and among its related pathways/superpathways are Th1 Differentiation Pathway and Wnt / Hedgehog / Notch. Affiliated tissues include skeleton, bone and prostate, and related phenotype is embryo.

Disease Ontology : 12 An osteosclerosis that results in numerous bone islands located in skeleton.

Wikipedia : 76 Osteopoikilosis is a benign, autosomal dominant sclerosing dysplasia of bone characterized by the... more...

Related Diseases for Osteopoikilosis

Graphical network of the top 20 diseases related to Osteopoikilosis:



Diseases related to Osteopoikilosis

Symptoms & Phenotypes for Osteopoikilosis

UMLS symptoms related to Osteopoikilosis:


joint stiffness

MGI Mouse Phenotypes related to Osteopoikilosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.92 EXT1 LEMD3 SMAD1 SMAD2

Drugs & Therapeutics for Osteopoikilosis

Search Clinical Trials , NIH Clinical Center for Osteopoikilosis

Cochrane evidence based reviews: osteopoikilosis

Genetic Tests for Osteopoikilosis

Anatomical Context for Osteopoikilosis

The Foundational Model of Anatomy Ontology organs/tissues related to Osteopoikilosis:

19
Skeleton

MalaCards organs/tissues related to Osteopoikilosis:

41
Bone, Prostate, Eye

Publications for Osteopoikilosis

Articles related to Osteopoikilosis:

(show top 50) (show all 144)
# Title Authors Year
1
Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis. ( 29393055 )
2018
2
Enchondroma with Osteopoikilosis Coexisting Together -A Rare Clinical and Radiological Case Report. ( 29854696 )
2018
3
Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis. ( 28840995 )
2017
4
Osteopoikilosis found incidentally in a 17-year-old adolescent with femoral shaft fracture: A case report. ( 29381938 )
2017
5
Gastric cancer bone metastases together with osteopoikilosis diagnosed using bone scintigraphy and (18)F-FDG PET/CT. ( 27329562 )
2017
6
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECT/CT: A case report and literature review. ( 27281099 )
2016
7
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant. ( 27382493 )
2016
8
Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature. ( 26694706 )
2016
9
[(68)Ga]PSMA-HBED-CC PET/CT to differentiate between diffuse bone metastases of prostate cancer and osteopoikilosis. ( 27922151 )
2016
10
Osteopoikilosis Occurring in the Skull. ( 27725561 )
2016
11
Coexistence of osteopoikilosis with seronegative spondyloarthritis and spinal stenosis. ( 26157277 )
2015
12
Osteopoikilosis: An important incidental finding. ( 25707878 )
2015
13
Osteopoikilosis: A rare cause of bone pain. ( 26644888 )
2015
14
PASH syndrome associated with osteopoikilosis. ( 26175185 )
2015
15
Melorheostosis: segmental osteopoikilosis or a separate entity? ( 25575356 )
2015
16
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. ( 26135202 )
2015
17
Osteopoikilosis: report of a familial case and review of the literature. ( 25352085 )
2014
18
Osteopoikilosis: A Benign Condition With the Appearance of Metastatic Bone Disease. ( 24663043 )
2014
19
Osteopoikilosis. ( 23910432 )
2014
20
Traumatic fracture in a patient with osteopoikilosis. ( 25478268 )
2014
21
Unusual presentation of osteopoikilosis. ( 24617187 )
2013
22
Osteopoikilosis with involvement of the spine, an atypical presentation. ( 23871154 )
2013
23
Multiple spots on bone: diagnostic challenge or spot diagnosis? Osteopoikilosis. ( 24038566 )
2013
24
Osteopoikilosis in a family: a practical diagnostic approach. ( 24263153 )
2013
25
Osteopoikilosis and ankylosing spondylitis: a rare coexistence and good response to TNF blocker adalimumab. ( 24119186 )
2013
26
Familial osteopoikilosis. ( 23893138 )
2013
27
Osteopoikilosis - Spotted bone disease. ( 24600101 )
2013
28
Osteopoikilosis: what does the rheumatologist must know about it? ( 22246417 )
2012
29
Case report of a patient with osteopoikilosis. ( 21879375 )
2012
30
Osteopoikilosis: a major diagnostic problem solved by bone scintigraphy. ( 21658816 )
2012
31
Cervical vertebral fracture in a patient with juvenile idiopathic arthritis and osteopoikilosis. ( 23253248 )
2012
32
Coexistence of osteopoikilosis with seronegative spondyloarthritis and Raynaud's phenomenon: first case report with evaluation of the nailfold capillary bed and literature review. ( 23256110 )
2012
33
Osteopoikilosis. ( 21556479 )
2011
34
Osteopoikilosis associated with fibromyalgia and active myofascial trigger point in upper trapezius muscles. ( 22142715 )
2011
35
Osteopoikilosis in the pelvic region. ( 21242266 )
2011
36
Osteopoikilosis in a diabetic patient complicated with adhesive capsulitis and retinopathy. ( 21841740 )
2011
37
Clinical images: Osteopoikilosis. ( 21480185 )
2011
38
De Quervain's syndrome associated with osteopoikilosis: a case report and review of the literature. ( 19856179 )
2011
39
Osteopoikilosis masquerading as osseous metastases in breast cancer. ( 21990037 )
2011
40
Osteopoikilosis: pain as a presenting symptom in three family members. ( 21573035 )
2011
41
Osteopoikilosis in the knee. ( 21242269 )
2011
42
A rare benign disorder mimicking metastasis on radiographic examination: a case report of osteopoikilosis. ( 21120491 )
2011
43
Acute lymphoblastic leukaemia in a patient with osteopoikilosis. ( 21770919 )
2011
44
Familial osteopoikilosis. ( 21952485 )
2011
45
Osteopoikilosis: spotted bone disease in a patient with psoriatic arthritis. ( 20661077 )
2010
46
Osteopoikilosis. ( 20395928 )
2010
47
Osteopoikilosis. ( 20886307 )
2010
48
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family. ( 20618940 )
2010
49
Visual vignette. Osteopoikilosis. ( 19703804 )
2010
50
Radiology case of the month. Left shoulder pain following trauma. Osteopoikilosis. ( 21294487 )
2010

Variations for Osteopoikilosis

ClinVar genetic disease variations for Osteopoikilosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LEMD3 LEMD3, 457C-T single nucleotide variant Pathogenic
2 LEMD3 LEMD3, 1941+5delG deletion Pathogenic
3 LEMD3 LEMD3, 1-BP DUP, 2154A duplication Pathogenic

Copy number variations for Osteopoikilosis from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 70374 12 61400000 69800000 Microdeletion LEMD3 Osteopoikilosis

Expression for Osteopoikilosis

Search GEO for disease gene expression data for Osteopoikilosis.

Pathways for Osteopoikilosis

GO Terms for Osteopoikilosis

Cellular components related to Osteopoikilosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear inner membrane GO:0005637 8.96 LEMD3 SMAD1
2 SMAD protein complex GO:0071141 8.62 SMAD1 SMAD2

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 9.46 SMAD1 SMAD2
2 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.43 LEMD3 SMAD2
3 SMAD protein signal transduction GO:0060395 9.4 SMAD1 SMAD2
4 ureteric bud development GO:0001657 9.37 SMAD1 SMAD2
5 gastrulation GO:0007369 9.32 EXT1 SMAD2
6 endoderm development GO:0007492 9.26 EXT1 SMAD2
7 embryonic pattern specification GO:0009880 9.16 SMAD1 SMAD2
8 primary miRNA processing GO:0031053 8.96 SMAD1 SMAD2
9 SMAD protein complex assembly GO:0007183 8.62 SMAD1 SMAD2

Molecular functions related to Osteopoikilosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.54 EXT1 SMAD1 SMAD2
2 protein heterodimerization activity GO:0046982 9.5 EXT1 SMAD1 SMAD2
3 co-SMAD binding GO:0070410 9.26 SMAD1 SMAD2
4 I-SMAD binding GO:0070411 9.16 SMAD1 SMAD2
5 primary miRNA binding GO:0070878 8.96 SMAD1 SMAD2
6 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 8.62 SMAD1 SMAD2

Sources for 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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