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MCID: OST014
MIFTS: 41

Osteopoikilosis

Categories: Bone diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Osteopoikilosis

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MalaCards integrated aliases for Osteopoikilosis:

Name: Osteopoikilosis 12 74 52 54 6 43 15 71
Dermatofibrosis Lenticularis Disseminata 71
Osteopathia Condensans Disseminata 52
Spotted Bones 52

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:11991
ICD9CM 34 756.53
MeSH 43 D010023
NCIt 49 C84985
SNOMED-CT 67 9147009
ICD10 32 Q78.8
UMLS 71 C0029455 C0265514
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Summaries for Osteopoikilosis

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NIH Rare Diseases : 52 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 12q14 microdeletion 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 Mitotic Metaphase and Anaphase and Mesodermal Commitment Pathway. Affiliated tissues include skeleton, bone and skin, and related phenotypes are cellular and craniofacial

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

Wikipedia : 74 Osteopoikilosis is a benign, autosomal dominant sclerosing dysplasia of bone characterized by the... more...

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Related Diseases for Osteopoikilosis

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

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 melorheostosis 32.4 SMAD2 SMAD1 LEXM LEMD3 EMD
2 12q14 microdeletion syndrome 32.1 XPOT LEMD3 HMGA2
3 buschke-ollendorff syndrome 31.7 SMAD2 SMAD1 LMNB2 LMNA LEXM LEMD3
4 melorheostosis with osteopoikilosis 12.8
5 osteopoikilosis and dacryocystitis 12.7
6 elastoma 11.6
7 melorheostosis, isolated 10.6
8 primary bone dysplasia with increased bone density 10.5
9 fibrous dysplasia 10.5
10 bone disease 10.5
11 hyperostosis 10.4
12 systemic scleroderma 10.3
13 arthritis 10.2
14 back pain 10.2
15 spondyloarthropathy 1 10.2
16 endosteal hyperostosis, autosomal dominant 10.2
17 inflammatory spondylopathy 10.2
18 osteopetrosis 10.2
19 spondylitis 10.2
20 linear scleroderma 10.2
21 synovial chondromatosis 10.2
22 emerinopathy 10.1 LMNA EMD
23 x-linked emery-dreifuss muscular dystrophy 10.1 LMNA EMD
24 laminopathy 10.1 LMNA EMD
25 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.1 LMNA EMD
26 breast cancer 10.1
27 rheumatoid arthritis 10.1
28 chondrosarcoma 10.1
29 familial mediterranean fever 10.1
30 psoriatic arthritis 10.1
31 klippel-feil syndrome 10.1
32 brucellosis 10.1
33 reactive arthritis 10.1
34 fibromyalgia 10.1
35 47,xyy 10.1
36 senile ectropion 10.1 LMNA ELN
37 first-degree atrioventricular block 10.0 LMNA EMD
38 carpal tunnel syndrome 9.9
39 exostoses, multiple, type i 9.9
40 fibrodysplasia ossificans progressiva 9.9
41 noonan syndrome 1 9.9
42 silver-russell syndrome 1 9.9
43 temporal arteritis 9.9
44 costello syndrome 9.9
45 osteogenic sarcoma 9.9
46 isolated growth hormone deficiency, type ia 9.9
47 lipodystrophy, congenital generalized, type 2 9.9
48 gastric cancer 9.9
49 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.9
50 juvenile arthritis 9.9

Graphical network of the top 20 diseases related to Osteopoikilosis:



Diseases related to Osteopoikilosis
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Symptoms & Phenotypes for Osteopoikilosis

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UMLS symptoms related to Osteopoikilosis:


joint stiffness

MGI Mouse Phenotypes related to Osteopoikilosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 EMD EXT1 LBR LEMD2 LEMD3 LEXM
2 craniofacial MP:0005382 9.56 EXT1 LBR LEMD2 LMNA SMAD1 SMAD2
3 mortality/aging MP:0010768 9.36 EXT1 LBR LEMD2 LEMD3 LEXM LMNA
Sources

Drugs & Therapeutics for Osteopoikilosis

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Search Clinical Trials , NIH Clinical Center for Osteopoikilosis

Cochrane evidence based reviews: osteopoikilosis

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Genetic Tests for Osteopoikilosis

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Anatomical Context for Osteopoikilosis

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

19
Skeleton

MalaCards organs/tissues related to Osteopoikilosis:

40
Bone, Skin, Breast, Lung, Eye, Kidney, Prostate
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Publications for Osteopoikilosis

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Articles related to Osteopoikilosis:

(show top 50) (show all 400)
# Title Authors PMID Year
1
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. 61 6
15489854 2004
2
Buschke-Ollendorff syndrome. 54 61
18313966 2008
3
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. 61 54
17087626 2007
4
MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. 61 54
15601644 2005
5
Modeling-based bone formation transforms trabeculae to cortical bone in the sclerotic areas in Buschke-Ollendorff syndrome. A case study of two females with LEMD3 variants. 61
32151766 2020
6
Bushke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules and mucin deposition. 61
32519343 2020
7
Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor. 61
30951020 2020
8
Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome. 61
31943321 2020
9
Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease. 61
32206820 2020
10
Low back pain and osteosclerotic bone lesions suggestive of metastases: a mask of osteopoikilosis. 61
31976926 2020
11
Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions. 61
31853371 2019
12
Osteopoikilosis. 61
31371461 2019
13
[Osteopoikilosis. A case report]. 61
30389430 2019
14
Osteopoikilosis hiding active sacroiliitis in Psoriatic Arthritis. 61
31323675 2019
15
Osteopoikilosis-Incidental Finding in the Emergency Department. 61
31617484 2019
16
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series. 61
31129707 2019
17
Osteopoikilosis and ankylosing spondylitis: Strange bedfellows: A case report. 61
31087523 2019
18
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. 61
30989250 2019
19
Erratum: Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis. 61
30430792 2019
20
A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. 61
31990479 2019
21
Osteopoikilosis: case series from Portuguese Rheumatology Centers. 61
31249279 2019
22
Structural basis for receptor-regulated SMAD recognition by MAN1. 61
30321401 2018
23
Osteopoikilosis Demonstrating Multiple Joint Involvement in an Adult Male: An Incidental Radiographic Finding. 61
30430046 2018
24
[Radiological Findings in Osteopoikilosis]. 61
29763949 2018
25
[An X-ray with a suprise: Osteopoikilosis]. 61
28579321 2018
26
Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis. 61
29393055 2018
27
Enchondroma with Osteopoikilosis Coexisting Together -A Rare Clinical and Radiological Case Report. 61
29854696 2018
28
Two cases of mimics of bone metastasis in breast cancer. 61
30363150 2018
29
[Extensive connective tissue nevus in children]. 61
28760502 2017
30
Osteopoikilosis found incidentally in a 17-year-old adolescent with femoral shaft fracture: A case report. 61
29381938 2017
31
Novel 4-bp Intronic Deletion (c.1560+5_1560+8del) [corrected] in LEMD3 in a Korean Patient With Osteopoikilosis. 61
28840995 2017
32
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. 61
28434888 2017
33
Melorheostosis: a Rare Sclerosing Bone Dysplasia. 61
28676968 2017
34
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. 61
28407409 2017
35
Gastric cancer bone metastases together with osteopoikilosis diagnosed using bone scintigraphy and 18F-FDG PET/CT. 61
27329562 2017
36
[Incidental findings in musculoskeletal radiology]. 61
28289785 2017
37
[68Ga]PSMA-HBED-CC PET/CT to differentiate between diffuse bone metastases of prostate cancer and osteopoikilosis. 61
27922151 2016
38
Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases. 61
27631079 2016
39
Elastoma: clinical and histopathological aspects of a rare disease. 61
28300889 2016
40
The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. 61
27267960 2016
41
Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders. 61
26898950 2016
42
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECT/CT: A case report and literature review. 61
27281099 2016
43
Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature. 61
26694706 2016
44
[Imaging diagnosis of osteopoiknosis: a report of 6 cases in four generations of one family and 3 sporadic cases]. 61
27534091 2016
45
Buschke-Ollendorff syndrome: a novel case series and systematic review. 61
26708699 2016
46
Osteopoikilosis Occurring in the Skull. 61
27725561 2016
47
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant. 61
27382493 2016
48
PASH syndrome associated with osteopoikilosis. 61
26175185 2015
49
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. 61
26135202 2015
50
Osteopoikilosis: an important incidental finding. 61
25707878 2015
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Variations for Osteopoikilosis

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ClinVar genetic disease variations for Osteopoikilosis:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LEMD3 LEMD3, 1-BP DUP, 2154Aduplication Pathogenic 2757
2 LEMD3 LEMD3, 1941+5delGdeletion Pathogenic 2756
3 LEMD3 NM_014319.5(LEMD3):c.457C>T (p.Gln153Ter)SNV Pathogenic 2752 12:65563833-65563833 12:65170053-65170053

Copy number variations for Osteopoikilosis from CNVD:

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

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Search GEO for disease gene expression data for Osteopoikilosis.
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Pathways for Osteopoikilosis

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Pathways related to Osteopoikilosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Mitotic Metaphase and Anaphase 65
Show member pathways
 12.28 LMNA LEMD3 LEMD2 EMD BANF1
2
Mesodermal Commitment Pathway 1
Show member pathways
 12.04 SMAD2 SMAD1 HMGA2 EXT1
3
Mitotic Prophase 65
Show member pathways
 11.98 LMNA LEMD3 LEMD2 EMD BANF1
4
Wnt / Hedgehog / Notch 4
11.76 SMAD2 SMAD1 EMD
5
Gastric Cancer Network 2 1
10.89 LMNB2 LBR
6
Initiation of Nuclear Envelope Reformation 65
Show member pathways
 10.54 LMNA LEMD3 LEMD2 EMD BANF1
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GO Terms for Osteopoikilosis

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.21 XPOT SMAD2 SMAD1 PLPP7 LMNB2 LMNA
2 endoplasmic reticulum GO:0005783 9.95 TM7SF2 PLPP7 MSRB3 LEMD2 LBR EXT1
3 nuclear membrane GO:0031965 9.63 LMNB2 LMNA LEMD3 LEMD2 LBR EMD
4 integral component of nuclear inner membrane GO:0005639 9.5 LEMD3 LEMD2 LBR
5 nuclear envelope GO:0005635 9.5 PLPP7 LMNB2 LMNA LEMD2 LBR EMD
6 SMAD protein complex GO:0071141 9.43 SMAD2 SMAD1 HMGA2
7 lamin filament GO:0005638 9.37 LMNB2 LMNA
8 nuclear inner membrane GO:0005637 9.17 TM7SF2 SMAD1 LMNB2 LEMD3 LEMD2 LBR

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

# Name GO ID Score Top Affiliating Genes
1 endoderm development GO:0007492 9.48 SMAD2 EXT1
2 sterol biosynthetic process GO:0016126 9.46 TM7SF2 LBR
3 nucleus organization GO:0006997 9.43 LMNA LEMD3
4 chromosome condensation GO:0030261 9.4 HMGA2 BANF1
5 embryonic pattern specification GO:0009880 9.37 SMAD2 SMAD1
6 primary miRNA processing GO:0031053 9.32 SMAD2 SMAD1
7 regulation of intracellular signal transduction GO:1902531 9.26 LEMD3 LEMD2
8 SMAD protein complex assembly GO:0007183 9.16 SMAD2 SMAD1
9 nuclear envelope organization GO:0006998 9.13 LMNA LEMD3 LEMD2
10 mitotic nuclear envelope reassembly GO:0007084 8.8 LMNA EMD BANF1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.4 TM7SF2 LBR
2 co-SMAD binding GO:0070410 9.37 SMAD2 SMAD1
3 I-SMAD binding GO:0070411 9.32 SMAD2 SMAD1
4 primary miRNA binding GO:0070878 9.26 SMAD2 SMAD1
5 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor GO:0016628 9.16 TM7SF2 LBR
6 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 8.96 SMAD2 SMAD1
7 delta14-sterol reductase activity GO:0050613 8.62 TM7SF2 LBR
Sources

Sources for Osteopoikilosis

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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