MCID: OST014
MIFTS: 43

Osteopoikilosis

Categories: Bone diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Osteopoikilosis

MalaCards integrated aliases for Osteopoikilosis:

Name: Osteopoikilosis 11 19 75 53 5 43 14 71 33
Dermatofibrosis Lenticularis Disseminata 71
Osteopathia Condensans Disseminata 19
Spotted Bones 19

Classifications:



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Disease Ontology 11 DOID:11991
ICD9CM 34 756.53
MeSH 43 D010023
NCIt 49 C84985
SNOMED-CT 68 9147009
ICD10 31 Q78.8
ICD11 33 801926378
UMLS 71 C0029455 C0265514

Summaries for Osteopoikilosis

GARD: 19 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 Signal Transduction and Separation of Sister Chromatids. Affiliated tissues include skeleton, bone and breast, and related phenotypes are nervous system and homeostasis/metabolism

Disease Ontology: 11 An osteosclerosis that results in numerous bone islands located in skeleton.

Wikipedia: 75 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 143)
# Related Disease Score Top Affiliating Genes
1 12q14 microdeletion syndrome 32.4 LEMD3 HMGA2
2 melorheostosis 31.2 SMAD2 SMAD1 PPM1A MAP2K1 LEMD3 EMD
3 buschke-ollendorff syndrome 30.4 SYNE2 SMAD2 SMAD1 PPM1A LMNB2 LMNB1
4 osteochondrodysplasia 29.6 OSTM1 LEMD3 LBR EXT1 ELN
5 melorheostosis with osteopoikilosis 11.6
6 osteopoikilosis and dacryocystitis 11.6
7 elastoma 11.3
8 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
9 primary bone dysplasia with increased bone density 10.4
10 bone disease 10.3
11 mccune-albright syndrome 10.3
12 fibrous dysplasia 10.3
13 spondyloarthropathy 1 10.3
14 periosteal osteogenic sarcoma 10.2 LEMD3 EXT1
15 melorheostosis, isolated 10.2
16 hyperostosis 10.2
17 peyronie's disease 10.2 SMAD2 ELN
18 systemic scleroderma 10.2
19 axial osteomalacia 10.2 OSTM1 LEMD3
20 fibrogenesis imperfecta ossium 10.2 OSTM1 LEMD3
21 cowden syndrome 6 10.1 SMAD2 SMAD1
22 infiltrating angiolipoma 10.1 MAP2K1 HMGA2
23 synovial chondromatosis 10.1
24 large intestine lipoma 10.1 MSRB3 HMGA2
25 lipoma of colon 10.1 MSRB3 HMGA2
26 deafness, autosomal recessive 74 10.1 MSRB3 LEMD3 HMGA2
27 exostoses, multiple, type i 10.0
28 endosteal hyperostosis, autosomal dominant 10.0
29 psoriatic arthritis 10.0
30 osteopetrosis 10.0
31 spondylitis 10.0
32 linear scleroderma 10.0
33 first-degree atrioventricular block 10.0 LMNA EMD
34 loeys-dietz syndrome 4 10.0 SMAD2 ELN
35 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.0 LMNA LEMD3 EMD
36 enchondromatosis, multiple, ollier type 9.9
37 chondrosarcoma 9.9
38 familial mediterranean fever 9.9
39 proteasome-associated autoinflammatory syndrome 1 9.9
40 klippel-feil syndrome 9.9
41 brucellosis 9.9
42 reactive arthritis 9.9
43 fibromyalgia 9.9
44 connective tissue disease 9.9
45 spinal stenosis 9.9
46 osteoarthritis 9.9
47 cardiomyopathy, dilated, 1b 9.9 LMNA EMD
48 hyperoxaluria, primary, type i 9.8 LMNB2 LMNB1 LBR
49 walker-warburg syndrome 9.8 LMNA LEMD3 EMD
50 muscular disease 9.8 LMNB2 LMNA EMD

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:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.31 EXT1 HMGA2 LBR LMNA LMNB1 LMNB2
2 homeostasis/metabolism MP:0005376 10.31 ELN EMD HMGA2 LBR LMNA LMNB1
3 cellular MP:0005384 10.31 EMD EXT1 HMGA2 LBR LEMD3 LMNA
4 growth/size/body region MP:0005378 10.29 EXT1 HMGA2 LBR LMNA LMNB1 LMNB2
5 muscle MP:0005369 10.13 ELN EMD LMNA LMNB1 LMNB2 PLPP7
6 craniofacial MP:0005382 10.13 EXT1 HMGA2 LBR LMNA LMNB1 MAP2K1
7 cardiovascular system MP:0005385 10.07 ELN EMD LEMD3 LMNA MAP2K1 PLPP7
8 behavior/neurological MP:0005386 10.06 EMD EXT1 HMGA2 LBR LMNA MAP2K1
9 limbs/digits/tail MP:0005371 10.05 EXT1 HMGA2 LBR LMNA OSTM1 PPM1A
10 digestive/alimentary MP:0005381 10 EXT1 HMGA2 LBR LMNA MAP2K1 SMAD1
11 skeleton MP:0005390 9.93 ELN EXT1 HMGA2 LBR LMNA LMNB1
12 respiratory system MP:0005388 9.8 ELN LBR LMNA LMNB1 LMNB2 SMAD2
13 mortality/aging MP:0010768 9.8 ELN EXT1 HMGA2 LBR LEMD3 LMNA
14 integument MP:0010771 9.32 HMGA2 LBR LMNA LMNB1 LMNB2 MAP2K1

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

Organs/tissues related to Osteopoikilosis:

FMA: Skeleton
MalaCards : Bone, Breast, Skin, Prostate, Kidney, Lung

Publications for Osteopoikilosis

Articles related to Osteopoikilosis:

(show top 50) (show all 421)
# Title Authors PMID Year
1
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. 62 5
15489854 2004
2
Buschke-Ollendorff syndrome. 53 62
18313966 2008
3
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. 53 62
17087626 2007
4
MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. 53 62
15601644 2005
5
Spinal vertebral osteopoikilosis: A case report. 62
35599119 2022
6
Osteopoikilosis: benign bone islands in periarticular bones. 62
36087936 2022
7
Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report. 62
35642708 2022
8
Osteopoikilosis - the importance of recognizing a rare but benign bone disorder. 62
35810377 2022
9
Osteopoikilosis. 62
33989397 2022
10
Mimics of Erdheim-Chester disease. 62
34799853 2022
11
Case report of Osteopoikilosis in patient with psoriatic arthritis. 62
35059199 2022
12
Osteopoikilosis with bony deformities of the right toes in a female child: Case report. 62
34601316 2021
13
Spotted bones in an osteopoikilosis-related disease (Buschke Ollendorff Syndrome): Identifying this rare condition from the lab to the field. 62
34098227 2021
14
How rare is rare? A literature survey of the last 45 years of paleopathological research on ancient rare diseases. 62
33813348 2021
15
Result of cementless total hip arthroplasty in a patient with osteopoikilosis, hip dysplasia and advanced osteoarthritis: a case report. 62
33888114 2021
16
Case Report of Osteopoikilosis: Sparse Cause of Bone Pain and Mimicker of Metastasis on Radiographs. 62
34239839 2021
17
Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature. 62
33598273 2021
18
Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition. 62
32519343 2021
19
Atypical Enostoses-Series of Ten Cases and Literature Review. 62
33065973 2020
20
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. 62
32151766 2020
21
Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor. 62
30951020 2020
22
Low back pain and osteosclerotic bone lesions suggestive of metastases: a mask of osteopoikilosis. 62
31976926 2020
23
Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease. 62
32206820 2020
24
Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome. 62
31943321 2020
25
Small Cell Prostate Cancer with Atypical Presentation -A Case Report and Review of Literature. 62
32953655 2020
26
Osteopoikilosis. 62
31371461 2019
27
Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions. 62
31853371 2019
28
[Osteopoikilosis. A case report]. 62
30389430 2019
29
Osteopoikilosis hiding active sacroiliitis in Psoriatic Arthritis. 62
31323675 2019
30
Osteopoikilosis-Incidental Finding in the Emergency Department. 62
31617484 2019
31
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series. 62
31129707 2019
32
Osteopoikilosis and ankylosing spondylitis: Strange bedfellows: A case report. 62
31087523 2019
33
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. 62
30989250 2019
34
Erratum: Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis. 62
30430792 2019
35
Osteopoikilosis: case series from Portuguese Rheumatology Centers. 62
31249279 2019
36
A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. 62
31990479 2019
37
Structural basis for receptor-regulated SMAD recognition by MAN1. 62
30321401 2018
38
Osteopoikilosis Demonstrating Multiple Joint Involvement in an Adult Male: An Incidental Radiographic Finding. 62
30430046 2018
39
[Radiological Findings in Osteopoikilosis]. 62
29763949 2018
40
[An X-ray with a suprise: Osteopoikilosis]. 62
28579321 2018
41
Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis. 62
29393055 2018
42
Two cases of mimics of bone metastasis in breast cancer. 62
30363150 2018
43
Enchondroma with Osteopoikilosis Coexisting Together -A Rare Clinical and Radiological Case Report. 62
29854696 2018
44
Novel 4-bp Intronic Deletion (c.1560+5_1560+8del) [corrected] in LEMD3 in a Korean Patient With Osteopoikilosis. 62
28840995 2017
45
[Extensive connective tissue nevus in children]. 62
28760502 2017
46
Osteopoikilosis found incidentally in a 17-year-old adolescent with femoral shaft fracture: A case report. 62
29381938 2017
47
Melorheostosis: a Rare Sclerosing Bone Dysplasia. 62
28676968 2017
48
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. 62
28434888 2017
49
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. 62
28407409 2017
50
Gastric cancer bone metastases together with osteopoikilosis diagnosed using bone scintigraphy and 18F-FDG PET/CT. 62
27329562 2017

Variations for Osteopoikilosis

ClinVar genetic disease variations for Osteopoikilosis:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LEMD3 NM_014319.5(LEMD3):c.457C>T (p.Gln153Ter) SNV Pathogenic
2752 rs1018165800 GRCh37: 12:65563833-65563833
GRCh38: 12:65170053-65170053
2 LEMD3 LEMD3, 1941+5delG DEL Pathogenic
2756 GRCh37:
GRCh38:
3 LEMD3 NM_014319.5(LEMD3):c.2154dup (p.Ala719fs) DUP Pathogenic
2757 GRCh37: 12:65634715-65634716
GRCh38: 12:65240935-65240936

Copy number variations for Osteopoikilosis from CNVD:

6
# 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

Pathways related to Osteopoikilosis according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1 13.58 SMAD2 SMAD1 PPM1A MAP2K1 LMNB1 LEMD3
2
Show member pathways
12.79 LMNB1 LMNA LEMD3 LBR EMD
3
Show member pathways
12.58 SMAD1 LMNB2 LMNB1 LMNA EMD
4
Show member pathways
12.51 LMNB1 LMNA LEMD3 EMD
5 12.34 LMNB2 LMNB1 LMNA EMD
6
Show member pathways
12.26 LMNB1 LMNA LEMD3 LBR EMD
7
Show member pathways
12.14 MAP2K1 LMNB2 LMNB1 LMNA
8 12.02 EMD PPM1A SMAD1 SMAD2
9 11.9 SMAD2 SMAD1 HMGA2 EXT1
10 11.68 SMAD2 SMAD1 MAP2K1
11
Show member pathways
11.6 LMNB1 LEMD3 LBR EMD
12
Show member pathways
11.52 SMAD2 LMNA LEMD3 HMGA2 EMD
13
Show member pathways
11.4 LMNB2 LMNB1 LMNA
14 10.96 LMNB2 LMNB1 LMNA
15 10.66 SYNE2 SMAD2 MAP2K1 LEMD3 LBR EMD
16 10.65 SMAD2 PPM1A
17
Show member pathways
10.6 SMAD2 LMNB2 LMNB1 LMNA
18 10.43 LMNB2 LMNB1 LMNA

GO Terms for Osteopoikilosis

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

# Name GO ID Score Top Affiliating Genes
1 nuclear outer membrane GO:0005640 9.88 TMEM53 SYNE2 EMD
2 nuclear inner membrane GO:0005637 9.85 EMD LBR LEMD3 LMNB1 SMAD1
3 nuclear lamina GO:0005652 9.8 LMNB2 LMNB1 LMNA
4 nuclear envelope GO:0005635 9.8 SYNE2 PLPP7 LMNB2 LMNB1 LMNA LBR
5 heteromeric SMAD protein complex GO:0071144 9.76 SMAD2 SMAD1
6 lamin filament GO:0005638 9.73 LMNB1 LMNA
7 SMAD protein complex GO:0071141 9.73 SMAD2 SMAD1 HMGA2
8 homomeric SMAD protein complex GO:0071142 9.67 SMAD2 SMAD1
9 nuclear membrane GO:0031965 9.53 TMEM53 SYNE2 LMNB2 LMNB1 LMNA LEMD3
10 obsolete integral component of nuclear inner membrane GO:0005639 9.48 LEMD3 LBR

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of BMP signaling pathway GO:0030514 9.88 TMEM53 PPM1A LEMD3
2 heterochromatin formation GO:0031507 9.86 HMGA2 LMNA LMNB1 LMNB2
3 protein localization to nuclear envelope GO:0090435 9.8 LMNB2 LMNB1 LMNA
4 primary miRNA processing GO:0031053 9.76 SMAD2 SMAD1
5 chondrocyte proliferation GO:0035988 9.73 HMGA2 EXT1
6 SMAD protein complex assembly GO:0007183 9.67 SMAD2 SMAD1
7 nuclear pore localization GO:0051664 9.63 LMNB2 LMNB1 LMNA
8 nuclear envelope organization GO:0006998 9.56 LMNB2 LMNB1 LMNA LEMD3
9 nuclear migration GO:0007097 9.23 SYNE2 LMNB2 LMNB1 LMNA

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

# Name GO ID Score Top Affiliating Genes
1 I-SMAD binding GO:0070411 9.26 SMAD2 SMAD1
2 co-SMAD binding GO:0070410 8.92 SMAD2 SMAD1

Sources for Osteopoikilosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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