MCID: OST014
MIFTS: 41

Osteopoikilosis

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Osteopoikilosis

MalaCards integrated aliases for Osteopoikilosis:

Name: Osteopoikilosis 12 74 20 54 6 44 15 71
Dermatofibrosis Lenticularis Disseminata 71
Osteopathia Condensans Disseminata 20
Spotted Bones 20

Classifications:



External Ids:

Disease Ontology 12 DOID:11991
ICD9CM 34 756.53
MeSH 44 D010023
NCIt 50 C84985
SNOMED-CT 67 9147009
ICD10 32 Q78.8
UMLS 71 C0029455 C0265514

Summaries for Osteopoikilosis

GARD : 20 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 melorheostosis, 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, skin and bone, 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...

Related Diseases for Osteopoikilosis

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

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 12q14 microdeletion syndrome 32.0 LEMD3 HMGA2
2 melorheostosis 31.6 SMAD2 SMAD1 MAP2K1 LEMD3 EMD
3 buschke-ollendorff syndrome 30.7 SYNE2 SMAD2 SMAD1 LMNA LEMD3 LBR
4 melorheostosis with osteopoikilosis 11.6
5 osteopoikilosis and dacryocystitis 11.5
6 elastoma 11.0
7 primary bone dysplasia with increased bone density 10.3
8 bone disease 10.3
9 fibrous dysplasia 10.3
10 melorheostosis, isolated 10.2
11 hyperostosis 10.2
12 systemic scleroderma 10.2
13 large intestine lipoma 10.1 MSRB3 HMGA2
14 lipoma of colon 10.1 MSRB3 HMGA2
15 emerinopathy 10.1 LMNA EMD
16 senile ectropion 10.1 LMNA ELN
17 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.1 SYNE2 EMD
18 first-degree atrioventricular block 10.0 LMNA EMD
19 spondyloarthropathy 1 10.0
20 inflammatory spondylopathy 10.0
21 spondylitis 10.0
22 linear scleroderma 10.0
23 synovial chondromatosis 10.0
24 back pain 10.0
25 reynolds syndrome 10.0 LMNA LBR
26 odontochondrodysplasia 9.9 LEMD3 LBR EXT1 ELN
27 lipodystrophy, familial partial, type 5 9.9 LMNA EMD
28 chondrosarcoma 9.9
29 familial mediterranean fever 9.9
30 psoriatic arthritis 9.9
31 klippel-feil syndrome 9.9
32 brucellosis 9.9
33 osteopetrosis 9.9
34 reactive arthritis 9.9
35 fibromyalgia 9.9
36 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.9 LMNA EMD
37 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 9.9 SYNE2 LMNA
38 x-linked emery-dreifuss muscular dystrophy 9.8 SYNE2 LMNA EMD
39 laminopathy 9.8 SYNE2 LMNA EMD
40 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.8 SYNE2 LMNA EMD
41 charcot-marie-tooth disease, axonal, type 2b1 9.8 SYNE2 LMNA EMD
42 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.8 SYNE2 LMNA EMD
43 spinocerebellar ataxia, autosomal recessive 8 9.8 SYNE2 LMNA EMD
44 cardiomyopathy, dilated, 1a 9.8 SYNE2 LMNA EMD
45 carpal tunnel syndrome 9.8
46 exostoses, multiple, type i 9.8
47 fibrodysplasia ossificans progressiva 9.8
48 noonan syndrome 1 9.8
49 prostate cancer 9.8
50 silver-russell syndrome 1 9.8

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 cellular MP:0005384 10.03 EMD EXT1 LBR LEMD2 LEMD3 LEXM
2 craniofacial MP:0005382 9.76 EXT1 LBR LEMD2 LMNA MAP2K1 SMAD1
3 digestive/alimentary MP:0005381 9.5 EXT1 LBR LMNA MAP2K1 SMAD1 SMAD2
4 nervous system MP:0003631 9.32 EXT1 LBR LEMD2 LMNA MAP2K1 MSRB3

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:

40
Skin, Bone, Breast, Prostate, Kidney

Publications for Osteopoikilosis

Articles related to Osteopoikilosis:

(show top 50) (show all 405)
# 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. 61 54
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. 54 61
15601644 2005
5
Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature. 61
33598273 2021
6
Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition. 61
32519343 2021
7
Atypical Enostoses-Series of Ten Cases and Literature Review. 61
33065973 2020
8
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
9
Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor. 61
30951020 2020
10
Low back pain and osteosclerotic bone lesions suggestive of metastases: a mask of osteopoikilosis. 61
31976926 2020
11
Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease. 61
32206820 2020
12
Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome. 61
31943321 2020
13
Small Cell Prostate Cancer with Atypical Presentation -A Case Report and Review of Literature. 61
32953655 2020
14
Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions. 61
31853371 2019
15
Osteopoikilosis. 61
31371461 2019
16
[Osteopoikilosis. A case report]. 61
30389430 2019
17
Osteopoikilosis hiding active sacroiliitis in Psoriatic Arthritis. 61
31323675 2019
18
Osteopoikilosis-Incidental Finding in the Emergency Department. 61
31617484 2019
19
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series. 61
31129707 2019
20
Osteopoikilosis and ankylosing spondylitis: Strange bedfellows: A case report. 61
31087523 2019
21
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. 61
30989250 2019
22
Erratum: Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis. 61
30430792 2019
23
Osteopoikilosis: case series from Portuguese Rheumatology Centers. 61
31249279 2019
24
A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. 61
31990479 2019
25
Structural basis for receptor-regulated SMAD recognition by MAN1. 61
30321401 2018
26
Osteopoikilosis Demonstrating Multiple Joint Involvement in an Adult Male: An Incidental Radiographic Finding. 61
30430046 2018
27
[Radiological Findings in Osteopoikilosis]. 61
29763949 2018
28
[An X-ray with a suprise: Osteopoikilosis]. 61
28579321 2018
29
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
30
Two cases of mimics of bone metastasis in breast cancer. 61
30363150 2018
31
Enchondroma with Osteopoikilosis Coexisting Together -A Rare Clinical and Radiological Case Report. 61
29854696 2018
32
Novel 4-bp Intronic Deletion (c.1560+5_1560+8del) [corrected] in LEMD3 in a Korean Patient With Osteopoikilosis. 61
28840995 2017
33
Osteopoikilosis found incidentally in a 17-year-old adolescent with femoral shaft fracture: A case report. 61
29381938 2017
34
[Extensive connective tissue nevus in children]. 61
28760502 2017
35
Melorheostosis: a Rare Sclerosing Bone Dysplasia. 61
28676968 2017
36
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. 61
28434888 2017
37
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. 61
28407409 2017
38
Gastric cancer bone metastases together with osteopoikilosis diagnosed using bone scintigraphy and 18F-FDG PET/CT. 61
27329562 2017
39
[Incidental findings in musculoskeletal radiology]. 61
28289785 2017
40
[68Ga]PSMA-HBED-CC PET/CT to differentiate between diffuse bone metastases of prostate cancer and osteopoikilosis. 61
27922151 2016
41
Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases. 61
27631079 2016
42
Elastoma: clinical and histopathological aspects of a rare disease. 61
28300889 2016
43
The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. 61
27267960 2016
44
Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders. 61
26898950 2016
45
Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature. 61
26694706 2016
46
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECT/CT: A case report and literature review. 61
27281099 2016
47
[Imaging diagnosis of osteopoiknosis: a report of 6 cases in four generations of one family and 3 sporadic cases]. 61
27534091 2016
48
Buschke-Ollendorff syndrome: a novel case series and systematic review. 61
26708699 2016
49
Osteopoikilosis Occurring in the Skull. 61
27725561 2016
50
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant. 61
27382493 2016

Variations for Osteopoikilosis

ClinVar genetic disease variations for Osteopoikilosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LEMD3 LEMD3, 1941+5delG Deletion Pathogenic 2756
2 LEMD3 LEMD3, 1-BP DUP, 2154A Duplication Pathogenic 2757
3 LEMD3 NM_014319.5(LEMD3):c.457C>T (p.Gln153Ter) SNV Pathogenic 2752 rs1018165800 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

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 nucleus GO:0005634 10.21 SYNE2 SMAD2 SMAD1 PLPP7 MAP2K1 LMNA
2 endoplasmic reticulum GO:0005783 9.97 TM7SF2 PLPP7 MSRB3 MAP2K1 LEMD2 LBR
3 nuclear membrane GO:0031965 9.63 SYNE2 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 SYNE2 PLPP7 LMNA LEMD2 LBR EMD
6 nuclear outer membrane GO:0005640 9.46 SYNE2 EMD
7 SMAD protein complex GO:0071141 9.43 SMAD2 SMAD1 HMGA2
8 heteromeric SMAD protein complex GO:0071144 9.4 SMAD2 SMAD1
9 nuclear inner membrane GO:0005637 9.1 TM7SF2 SMAD1 LEMD3 LEMD2 LBR EMD

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.65 SMAD2 SMAD1 MAP2K1 LMNA HMGA2
2 response to virus GO:0009615 9.63 HMGA2 EXT1 BANF1
3 BMP signaling pathway GO:0030509 9.54 SMAD2 SMAD1 EXT1
4 chromosome condensation GO:0030261 9.52 HMGA2 BANF1
5 nucleus organization GO:0006997 9.51 LMNA LEMD3
6 embryonic pattern specification GO:0009880 9.49 SMAD2 SMAD1
7 endoderm development GO:0007492 9.48 SMAD2 EXT1
8 chondrocyte proliferation GO:0035988 9.43 HMGA2 EXT1
9 primary miRNA processing GO:0031053 9.4 SMAD2 SMAD1
10 regulation of intracellular signal transduction GO:1902531 9.32 LEMD3 LEMD2
11 SMAD protein complex assembly GO:0007183 9.16 SMAD2 SMAD1
12 nuclear envelope organization GO:0006998 9.13 LMNA LEMD3 LEMD2
13 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 9.32 TM7SF2 LBR
2 I-SMAD binding GO:0070411 9.26 SMAD2 SMAD1
3 co-SMAD binding GO:0070410 9.16 SMAD2 SMAD1
4 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor GO:0016628 8.96 TM7SF2 LBR
5 delta14-sterol reductase activity GO:0050613 8.62 TM7SF2 LBR

Sources for Osteopoikilosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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