MCID: OST014
MIFTS: 39

Osteopoikilosis

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Osteopoikilosis

MalaCards integrated aliases for Osteopoikilosis:

Name: Osteopoikilosis 12 77 54 56 6 45 15 74
Dermatofibrosis Lenticularis Disseminata 74
Osteopathia Condensans Disseminata 54
Spotted Bones 54

Classifications:



External Ids:

Disease Ontology 12 DOID:11991
ICD9CM 36 756.53
MeSH 45 D010023
NCIt 51 C84985
SNOMED-CT 69 9147009
ICD10 34 Q78.8

Summaries for Osteopoikilosis

NIH Rare Diseases : 54 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 12q14 microdeletion syndrome 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 Hippo signaling pathway and Integrated Breast Cancer Pathway. Affiliated tissues include bone, prostate and eye, and related phenotypes are craniofacial and embryo

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

Wikipedia : 77 Osteopoikilosis is a benign, autosomal dominant sclerosing dysplasia of bone characterized by the... more...

Related Diseases for Osteopoikilosis

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 12q14 microdeletion syndrome 32.3 LEMD3 XPOT
2 buschke-ollendorff syndrome 32.2 ELN LEMD3 SMAD1 SMAD2
3 melorheostosis 32.1 LEMD3 SMAD2
4 melorheostosis with osteopoikilosis 12.7
5 osteopoikilosis and dacryocystitis 12.5
6 elastoma 11.4
7 melorheostosis, isolated 10.5
8 mccune-albright syndrome 10.4
9 fibrous dysplasia 10.4
10 arthritis 10.3
11 spondyloarthropathy 1 10.1
12 rheumatoid arthritis 10.1
13 bone disease 10.1
14 spondylitis 10.1
15 endosteal hyperostosis, autosomal dominant 10.0
16 familial mediterranean fever 10.0
17 klippel-feil syndrome 10.0
18 bowenoid papulosis 10.0
19 synovial chondromatosis 10.0
20 breast cancer 9.9
21 fibrodysplasia ossificans progressiva 9.9
22 chromosome 8q22.1 duplication syndrome 9.9
23 prostate cancer 9.9
24 isolated growth hormone deficiency, type ia 9.9
25 prostate cancer, hereditary, 8 9.9
26 psoriatic arthritis 9.9
27 prostate cancer, hereditary, 6 9.9
28 gastric cancer 9.9
29 keloids 9.9
30 spinal stenosis 9.9
31 chondrocalcinosis 9.9
32 otosclerosis 9.9
33 giant cell tumor 9.9
34 paget's disease of bone 9.9
35 reactive arthritis 9.9
36 fibromyalgia 9.9
37 juvenile rheumatoid arthritis 9.9
38 localized scleroderma 9.9
39 lupus erythematosus 9.9
40 amyloidosis 9.9
41 dacryoadenitis 9.9
42 dacryocystitis 9.9
43 dwarfism 9.9
44 enchondroma 9.9
45 fibromatosis 9.9
46 germ cells tumors 9.9
47 ledderhose disease 9.9
48 mixed germ cell tumor 9.9
49 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome 9.9
50 discoid lupus erythematosus 9.9

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 EXT1 SMAD1 SMAD2 XPOT
2 embryo MP:0005380 9.02 EXT1 LEMD3 SMAD1 SMAD2 XPOT

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

MalaCards organs/tissues related to Osteopoikilosis:

42
Bone, Prostate, Eye, Skin

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

20
Skeleton

Publications for Osteopoikilosis

Articles related to Osteopoikilosis:

(show top 50) (show all 154)
# Title Authors Year
1
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. ( 30989250 )
2019
2
Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor. ( 30951020 )
2019
3
Erratum: Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis. ( 30430792 )
2019
4
Osteopoikilosis and ankylosing spondylitis: Strange bedfellows: A case report. ( 31087523 )
2019
5
Enchondroma with Osteopoikilosis Coexisting Together -A Rare Clinical and Radiological Case Report. ( 29854696 )
2018
6
Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis. ( 29393055 )
2018
7
Osteopoikilosis Demonstrating Multiple Joint Involvement in an Adult Male: An Incidental Radiographic Finding. ( 30430046 )
2018
8
Gastric cancer bone metastases together with osteopoikilosis diagnosed using bone scintigraphy and 18F-FDG PET/CT. ( 27329562 )
2017
9
Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis. ( 28840995 )
2017
10
Osteopoikilosis found incidentally in a 17-year-old adolescent with femoral shaft fracture: A case report. ( 29381938 )
2017
11
Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature. ( 26694706 )
2016
12
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECT/CT: A case report and literature review. ( 27281099 )
2016
13
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant. ( 27382493 )
2016
14
Osteopoikilosis Occurring in the Skull. ( 27725561 )
2016
15
[68Ga]PSMA-HBED-CC PET/CT to differentiate between diffuse bone metastases of prostate cancer and osteopoikilosis. ( 27922151 )
2016
16
Osteopoikilosis: A Benign Condition With the Appearance of Metastatic Bone Disease. ( 24663043 )
2015
17
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. ( 26135202 )
2015
18
Melorheostosis: segmental osteopoikilosis or a separate entity? ( 25575356 )
2015
19
Osteopoikilosis and ankylosing spondylitis: a rare coexistence and good response to TNF blocker adalimumab. ( 24119186 )
2015
20
Osteopoikilosis: report of a familial case and review of the literature. ( 25352085 )
2015
21
Osteopoikilosis: an important incidental finding. ( 25707878 )
2015
22
Coexistence of osteopoikilosis with seronegative spondyloarthritis and spinal stenosis. ( 26157277 )
2015
23
PASH syndrome associated with osteopoikilosis. ( 26175185 )
2015
24
Osteopoikilosis: A rare cause of bone pain. ( 26644888 )
2015
25
Osteopoikilosis masquerading as osseous metastases in breast cancer. ( 21990037 )
2014
26
Osteopoikilosis with involvement of the spine, an atypical presentation. ( 23871154 )
2014
27
Osteopoikilosis. ( 23910432 )
2014
28
Traumatic fracture in a patient with osteopoikilosis. ( 25478268 )
2014
29
Osteopoikilosis - Spotted bone disease. ( 24600101 )
2013
30
Familial osteopoikilosis. ( 23893138 )
2013
31
Multiple spots on bone: diagnostic challenge or spot diagnosis? Osteopoikilosis. ( 24038566 )
2013
32
Osteopoikilosis in a family: a practical diagnostic approach. ( 24263153 )
2013
33
Unusual presentation of osteopoikilosis. ( 24617187 )
2013
34
Traumatic Fracture in a patient of Osteopoikilosis with Review of Literature. ( 27298900 )
2013
35
Osteopoikilosis: a major diagnostic problem solved by bone scintigraphy. ( 21658816 )
2012
36
Case report of a patient with osteopoikilosis. ( 21879375 )
2012
37
Osteopoikilosis: what does the rheumatologist must know about it? ( 22246417 )
2012
38
Cervical vertebral fracture in a patient with juvenile idiopathic arthritis and osteopoikilosis. ( 23253248 )
2012
39
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
40
De Quervain's syndrome associated with osteopoikilosis: a case report and review of the literature. ( 19856179 )
2011
41
A rare benign disorder mimicking metastasis on radiographic examination: a case report of osteopoikilosis. ( 21120491 )
2011
42
Osteopoikilosis in the pelvic region. ( 21242266 )
2011
43
Osteopoikilosis in the knee. ( 21242269 )
2011
44
Clinical images: Osteopoikilosis. ( 21480185 )
2011
45
Osteopoikilosis. ( 21556479 )
2011
46
Osteopoikilosis: pain as a presenting symptom in three family members. ( 21573035 )
2011
47
Acute lymphoblastic leukaemia in a patient with osteopoikilosis. ( 21770919 )
2011
48
Osteopoikilosis in a diabetic patient complicated with adhesive capsulitis and retinopathy. ( 21841740 )
2011
49
Familial osteopoikilosis. ( 21952485 )
2011
50
Osteopoikilosis associated with fibromyalgia and active myofascial trigger point in upper trapezius muscles. ( 22142715 )
2011

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 heterodimerization activity GO:0046982 9.5 EXT1 SMAD1 SMAD2
2 co-SMAD binding GO:0070410 9.26 SMAD1 SMAD2
3 I-SMAD binding GO:0070411 9.16 SMAD1 SMAD2
4 primary miRNA binding GO:0070878 8.96 SMAD1 SMAD2
5 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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