Osteopoikilosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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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:

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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

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Drugs & Therapeutics for Osteopoikilosis

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

Organs/tissues related to Osteopoikilosis:

FMA: Skeleton

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

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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	Hellemans J...Mortier GR	15489854	2004
2	Buschke-Ollendorff syndrome. ⁵³ ⁶²	Hassikou H...Hadri L	18313966	2008
3	Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. ⁵³ ⁶²	Mumm S...Whyte MP	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	Lin F...Worman HJ	15601644	2005
5	Spinal vertebral osteopoikilosis: A case report. ⁶²	Yang YF...Zheng BW	35599119	2022
6	Osteopoikilosis: benign bone islands in periarticular bones. ⁶²	Chou TA...Hsiao CH	36087936	2022
7	Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report. ⁶²	Hung WK...Yang CY	35642708	2022
8	Osteopoikilosis - the importance of recognizing a rare but benign bone disorder. ⁶²	Nascimento AF...Araujo FC	35810377	2022
9	Osteopoikilosis. ⁶²	Mukai T...Morita Y	33989397	2022
10	Mimics of Erdheim-Chester disease. ⁶²	Abeykoon JP...Mayo Clinic-University of Alabama at Birmingham Histiocytosis Working Group	34799853	2022
11	Case report of Osteopoikilosis in patient with psoriatic arthritis. ⁶²	Cherif I...Hamdi W	35059199	2022
12	Osteopoikilosis with bony deformities of the right toes in a female child: Case report. ⁶²	Swed S...Abd W	34601316	2021
13	Spotted bones in an osteopoikilosis-related disease (Buschke Ollendorff Syndrome): Identifying this rare condition from the lab to the field. ⁶²	Zdral S...Trujillo-Tiebas MJ	34098227	2021
14	How rare is rare? A literature survey of the last 45 years of paleopathological research on ancient rare diseases. ⁶²	Gresky J...Petiti E	33813348	2021
15	Result of cementless total hip arthroplasty in a patient with osteopoikilosis, hip dysplasia and advanced osteoarthritis: a case report. ⁶²	Chang YY...Lin WH	33888114	2021
16	Case Report of Osteopoikilosis: Sparse Cause of Bone Pain and Mimicker of Metastasis on Radiographs. ⁶²	Panchal SR...Mohanty T	34239839	2021
17	Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature. ⁶²	Gaudio A...Castellino P	33598273	2021
18	Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition. ⁶²	Xu Z...Xue R	32519343	2021
19	Atypical Enostoses-Series of Ten Cases and Literature Review. ⁶²	Bedard T...Damron TA	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	Frost M...Frederiksen AL	32151766	2020
21	Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor. ⁶²	Correa Llano MG...Cruz O	30951020	2020
22	Low back pain and osteosclerotic bone lesions suggestive of metastases: a mask of osteopoikilosis. ⁶²	Syrycka J...Bolanowski M	31976926	2020
23	Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease. ⁶²	Diotallevi F...Offidani A	32206820	2020
24	Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome. ⁶²	Velasco Huici R...Monteagudo C	31943321	2020
25	Small Cell Prostate Cancer with Atypical Presentation -A Case Report and Review of Literature. ⁶²	Purohit S...Raj A	32953655	2020
26	Osteopoikilosis. ⁶²	Liu S...Wang Y	31371461	2019
27	Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions. ⁶²	Yamamoto A...Abe S	31853371	2019
28	[Osteopoikilosis. A case report]. ⁶²	Sevilla Homedes C...Josa Eritja M	30389430	2019
29	Osteopoikilosis hiding active sacroiliitis in Psoriatic Arthritis. ⁶²	Crepaldi G...Lomater C	31323675	2019
30	Osteopoikilosis-Incidental Finding in the Emergency Department. ⁶²	Luke U...Dumont C	31617484	2019
31	Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series. ⁶²	Gnoli M...Sangiorgi L	31129707	2019
32	Osteopoikilosis and ankylosing spondylitis: Strange bedfellows: A case report. ⁶²	Joseph RO...Shenoy P	31087523	2019
33	Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. ⁶²	Wordsworth P...Chan M	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	Madeira N...Miranda LC	31249279	2019
36	A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. ⁶²	Elmaogullari S...Ucakturk SA	31990479	2019
37	Structural basis for receptor-regulated SMAD recognition by MAN1. ⁶²	Miyazono KI...Tanokura M	30321401	2018
38	Osteopoikilosis Demonstrating Multiple Joint Involvement in an Adult Male: An Incidental Radiographic Finding. ⁶²	Botwin A...Wasyliw C	30430046	2018
39	[Radiological Findings in Osteopoikilosis]. ⁶²	Al-Bourini O...Wienbeck S	29763949	2018
40	[An X-ray with a suprise: Osteopoikilosis]. ⁶²	Alvargonzalez M...Quispe C	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	Silov G...Karacavus S	29393055	2018
42	Two cases of mimics of bone metastasis in breast cancer. ⁶²	Tin AW...Naisby G	30363150	2018
43	Enchondroma with Osteopoikilosis Coexisting Together -A Rare Clinical and Radiological Case Report. ⁶²	Doshi K...Shetty MS	29854696	2018
44	Novel 4-bp Intronic Deletion (c.1560+5_1560+8del) [corrected] in LEMD3 in a Korean Patient With Osteopoikilosis. ⁶²	Yoo IY...Min YK	28840995	2017
45	[Extensive connective tissue nevus in children]. ⁶²	Lafargue O...Dompmartin A	28760502	2017
46	Osteopoikilosis found incidentally in a 17-year-old adolescent with femoral shaft fracture: A case report. ⁶²	Ye C...Dai M	29381938	2017
47	Melorheostosis: a Rare Sclerosing Bone Dysplasia. ⁶²	Kotwal A...Clarke BL	28676968	2017
48	Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. ⁶²	Whyte MP...Mardis ER	28434888	2017
49	Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. ⁶²	Fischetto R...Papadia F	28407409	2017
50	Gastric cancer bone metastases together with osteopoikilosis diagnosed using bone scintigraphy and 18F-FDG PET/CT. ⁶²	Prado Wohlwend S...Martinez Carsi C	27329562	2017

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Genes for Osteopoikilosis

Genes related to Osteopoikilosis (1 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LEMD3	LEM Domain Containing 3	Protein Coding	447.8	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	15489854 17087626 15601644
2	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	12.68	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
3	ELN	Elastin	Protein Coding	12.33	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18313966
4	SMAD2	SMAD Family Member 2	Protein Coding	12.29	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
5	EXT1	Exostosin Glycosyltransferase 1	Protein Coding	11.59	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
6	SMAD1	SMAD Family Member 1	Protein Coding	11.13	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
7	TMEM53	Transmembrane Protein 53	Protein Coding	6.16	DISEASES inferred ¹⁴
8	EMD	Emerin	Protein Coding	6	DISEASES inferred ¹⁴
9	MSRB3	Methionine Sulfoxide Reductase B3	Protein Coding	5.74	DISEASES inferred ¹⁴
10	LBR	Lamin B Receptor	Protein Coding	5.39	DISEASES inferred ¹⁴
11	HMGA2	High Mobility Group AT-Hook 2	Protein Coding	5.33	DISEASES inferred ¹⁴
12	PPM1A	Protein Phosphatase, Mg2+/Mn2+ Dependent 1A	Protein Coding	5.32	DISEASES inferred ¹⁴
13	OSTM1	Osteoclastogenesis Associated Transmembrane Protein 1	Protein Coding	5.26	DISEASES inferred ¹⁴
14	LMNB2	Lamin B2	Protein Coding	5.2	DISEASES inferred ¹⁴
15	LMNA	Lamin A/C	Protein Coding	5.19	DISEASES inferred ¹⁴
16	SYNE2	Spectrin Repeat Containing Nuclear Envelope Protein 2	Protein Coding	5.13	DISEASES inferred ¹⁴
17	PLPP7	Phospholipid Phosphatase 7 (Inactive)	Protein Coding	5.1	DISEASES inferred ¹⁴
18	LMNB1	Lamin B1	Protein Coding	5.08	DISEASES inferred ¹⁴

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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

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Expression for Osteopoikilosis

Search GEO for disease gene expression data for Osteopoikilosis.

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Pathways for Osteopoikilosis

Pathways related to Osteopoikilosis according to GeneCards Suite gene sharing:

(show all 18)

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.58	SMAD2 SMAD1 PPM1A MAP2K1 LMNB1 LEMD3
2	Separation of Sister Chromatids ⁶⁶ Show member pathways Mitotic Anaphase ⁶⁶ Mitotic Metaphase and Anaphase ⁶⁶ Regulation of sister chromatid separation at the metaphase-anaphase transition ⁷⁴	12.79	LMNB1 LMNA LEMD3 LBR EMD
3	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways Arrhythmogenic right ventricular cardiomyopathy ⁷⁴ BMP Pathway ⁶⁴ Calpain Protease Regulates Cellular Mechanics ⁶⁴ Caspase Cascade ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ Presynaptic depolarization and calcium channel opening ⁶⁶ TOB in Osteoblast Signaling ⁶⁴	12.58	SMAD1 LMNB2 LMNB1 LMNA EMD
4	Gene Silencing by RNA ⁶⁶ Show member pathways Golgi Cisternae Pericentriolar Stack Reorganization ⁶⁶ MASTL Facilitates Mitotic Progression ⁶⁶ Mitotic Prophase ⁶⁶ RNAi Pathway ⁶⁴ Small interfering RNA (siRNA) biogenesis ⁶⁶ Transcriptional regulation by small RNAs ⁶⁶ tRNA-derived small RNA (tsRNA or tRNA-related fragment, tRF) biogenesis ⁶⁶	12.51	LMNB1 LMNA LEMD3 EMD
5	Cytoskeletal Signaling ³	12.34	LMNB2 LMNB1 LMNA EMD
6	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding ⁶⁶ Show member pathways Carboxyterminal post-translational modifications of tubulin ⁶⁶ Cellular proteostasis ⁷⁴ Folding of actin by CCT/TriC ⁶⁶ Formation of tubulin folding intermediates by CCT/TriC ⁶⁶ Initiation of Nuclear Envelope (NE) Reformation ⁶⁶ Nuclear Envelope (NE) Reassembly ⁶⁶ Post-chaperonin tubulin folding pathway ⁶⁶ Prefoldin mediated transfer of substrate to CCT/TriC ⁶⁶ Sealing of the nuclear envelope (NE) by ESCRT-III ⁶⁶	12.26	LMNB1 LMNA LEMD3 LBR EMD
7	Apoptosis and survival FAS signaling cascades ²² Show member pathways Apoptosis and survival Caspase cascade ²² Breakdown of the nuclear lamina ⁶⁶ Caspase Cascade in Apoptosis ⁶¹ Fas ligand pathway and stress induction of heat shock proteins ⁷⁴ Fas Signaling ⁶⁴	12.14	MAP2K1 LMNB2 LMNB1 LMNA
8	Wnt / Hedgehog / Notch ³	12.02	EMD PPM1A SMAD1 SMAD2
9	Mesodermal commitment pathway ⁷⁴	11.9	SMAD2 SMAD1 HMGA2 EXT1
10	TGF-beta Signaling Pathways ⁶⁵	11.68	SMAD2 SMAD1 MAP2K1
11	RHOD GTPase cycle ⁶⁶ Show member pathways RHOF GTPase cycle ⁶⁶	11.6	LMNB1 LEMD3 LBR EMD
12	Overlap between signal transduction pathways contributing to LMNA laminopathies ⁷⁴ Show member pathways Influence of laminopathies on Wnt signaling ⁷⁴	11.52	SMAD2 LMNA LEMD3 HMGA2 EMD
13	Granzyme Pathway ⁶⁴ Show member pathways Granzyme-B Pathway ⁶⁴	11.4	LMNB2 LMNB1 LMNA
14	Familial partial lipodystrophy ⁷⁴	10.96	LMNB2 LMNB1 LMNA
15	Envelope proteins and their potential roles in EDMD physiopathology ⁷⁴	10.66	SYNE2 SMAD2 MAP2K1 LEMD3 LBR EMD
16	Regulation of cytoplasmic and nuclear SMAD2/3 signaling ⁶¹	10.65	SMAD2 PPM1A
17	Progeria-associated lipodystrophy ⁷⁴ Show member pathways Lamin A-processing pathway ⁷⁴	10.6	SMAD2 LMNB2 LMNB1 LMNA
18	Acquired partial lipodystrophy / Barraquer-Simons syndrome ⁷⁴	10.43	LMNB2 LMNB1 LMNA

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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

Sources for Osteopoikilosis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: OST014 MIFTS: 43	Osteopoikilosis Categories: Bone diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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