Semd malady

MalaCards: Semd is related to metaphyseal dysplasia and pseudoachondroplasia. An important gene associated with Semd is SEMA3A (sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A), and among its related pathways are Cell adhesion_ECM remodeling and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds pentosidine and neurocan have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and limbs/digits/tail.

semd 7

Diseases related to semd by text searches and GeneDecks gene sharing:

(show all 37)

id	Related Disease	Score	Top Affiliating Genes
1	metaphyseal dysplasia	28.3	MATN3, COL2A1, SEMA3A
2	pseudoachondroplasia	12.9	ACAN, MATN3
3	achondrogenesis type ii	12.8	SEMA3A, COL2A1
4	sponastrime dysplasia	12.7	PAPSS2, SEMA3A, MATN3
5	osteochondrodysplasia	12.7	COL2A1, PAPSS2
6	spondyloepiphyseal dysplasia congenita	12.6	COL2A1, DDR2
7	retinoschisis	12.6	DDR2, COL2A1
8	x-linked spondyloepiphyseal dysplasia tarda	12.5	COL2A1, ACAN
9	achondroplasia	12.5	COL2A1, ACAN
10	diastrophic dysplasia	12.4	COL2A1, PAPSS2, MATN3
11	exostosis	12.4	ACAN, MMP13
12	multiple epiphyseal dysplasia	12.3	ACAN, COL2A1, MATN3
13	chondrodysplasia	12.3	COL2A1, MATN3, ACAN
14	osteochondritis dissecans	12.2	MATN3, ACAN, MMP13
15	epiphyseal dysplasia	12.0	ACAN, COL2A1, PAPSS2, MATN3
16	periostitis	11.9	COL2A1, MMP13, MATN3
17	chst3-related skeletal dysplasia	11.9	ACAN, COL2A1, MMP13
18	brachydactyly	11.9	ACAN, COL2A1, DDR2, PAPSS2
19	arthropathy	11.8	COL2A1, MMP13, ACAN
20	dwarfism	11.8	MATN3, COL2A1, ACAN, DDR2
21	synovitis	11.8	MMP13, ACAN, COL2A1
22	boomerang dysplasia	11.6	PAPSS2, MMP13, MATN3, COL2A1
23	chondrosarcoma	11.5	COL2A1, ACAN, MMP13
24	hypertrophy of breast	11.3	COL2A1, ACAN, MMP13
25	short stature	11.2	COL2A1, MATN3, PAPSS2, MMP13, ACAN
26	osteoarthritis	10.6	MMP13, ACAN, MATN3, DDR2, COL2A1, PAPSS2
27	arthritis	10.5	MMP13, DDR2, CLEC12A, COL2A1, ACAN
28	carcinoma	10.0	CLEC12A, PAPSS2, MATN3, SEMA3A, MMP13, DDR2
29	spondyloepimetaphyseal dysplasia, strudwick type	6.9
30	spondyloepimetaphyseal dysplasia, missouri type	6.9
31	semd, pakistani type	6.4
32	spondyloepimetaphyseal dysplasia genevieve type	5.5
33	spondyloepimetaphyseal dysplasia matrilin-3 related	5.5
34	spondyloepimetaphyseal dysplasia shohat type	5.5
35	spondyloepimetaphyseal dysplasia x-linked	5.5
36	spondyloepimetaphyseal dysplasia x-linked with mental deterioration	5.5
37	spondyloepimetaphyseal dysplasia, aggrecan type	5.5

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to semd:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	8.6	COL2A1, DDR2, PAPSS2, ACAN
2	limbs/digits/tail phenotype	MP:0005371	7.8	PAPSS2, MMP13, MATN3, COL2A1, ACAN
3	skeleton phenotype	MP:0005390	7.0	DDR2, MMP13, PAPSS2, SEMA3A, COL2A1, ACAN
4	growth/size phenotype	MP:0005378	6.7	ACAN, PAPSS2, MMP13, MATN3, DDR2, SEMA3A

Articles related to semd:

id	Title	Authors	Year	Affiliating Genes
1	A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. (19110214)	Tompson S.W.... Krakow D.	2009	ACAN, CLEC12A
2	MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). (16167086)	Kennedy A.M.... Thakker R.V.	2005	MMP13
3	Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. (15121775)	Borochowitz Z.U.... Cormier-Daire V.	2004	MATN3
4	Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). (8723096)	Kaitila I.... Ala-Kokko L.	1996	COL2A1

Genes related to semd according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SEMA3A	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	11.1	Aliases & Descriptions
2	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	11.0
3	MATN3	matrilin 3	11.0	Publications
4	ACAN	aggrecan	11.0	Publications
5	COL2A1	collagen, type II, alpha 1	11.0	Publications
6	CLEC12A	C-type lectin domain family 12, member A	11.0	Publications
7	MMP13	matrix metallopeptidase 13 (collagenase 3)	11.0	Publications
8	DDR2	discoidin domain receptor tyrosine kinase 2	11.0

Pathways related to semd according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Cell adhesion_ECM remodeling41	9.1	MMP13, COL2A1
2	Development Hedgehog and PTH signaling pathways in bone and cartilage development10	9.0	MMP13, COL2A1
3	Cell adhesion ECM remodeling10	8.8	COL2A1, MMP13
4	Pancreatic Adenocarcinoma36	8.8	SEMA3A, MMP13, DDR2
5	Metalloproteases in connective tissue degradation10	8.7	MMP13, COL2A1, ACAN

Compounds related to semd according to GeneDecks:

(show all 12)

id	Compound	Score	Top Affiliating Genes
1	pentosidine32	9.7	COL2A1, ACAN
2	neurocan32	9.5	CLEC12A, ACAN
3	sulfate32 18	10.3	ACAN, COL2A1, PAPSS2
4	hydroxyproline32 18	10.1	MMP13, COL2A1
5	glucosamine32 9 18 9	12.1	ACAN, MMP13
6	alginate32	8.9	ACAN, COL2A1, MMP13
7	procollagen32	8.9	MMP13, ACAN, COL2A1
8	glycosaminoglycan32	8.9	COL2A1, MMP13, ACAN
9	agarose32	8.8	MMP13, COL2A1, ACAN
10	ascorbic acid32 18	9.7	MMP13, COL2A1, ACAN
11	dexamethasone32 42 34 9 9	12.1	CLEC12A, MMP13, COL2A1, ACAN
12	cysteine32	7.8	PAPSS2, MMP13, COL2A1, CLEC12A

Cellular components related to semd according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	proteinaceous extracellular matrix	GO:005578	8.8	MMP13, MATN3, ACAN

Biological processes related to semd according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	collagen fibril organization	GO:030199	9.4	DDR2, COL2A1
2	skeletal system development	GO:001501	8.4	PAPSS2, MATN3, COL2A1, ACAN

Molecular functions related to semd according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:005201	9.6	MATN3, ACAN