Spondylometaphyseal Dysplasia malady

Wikipedia: Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones.⁴⁴ more...

MalaCards: Spondylometaphyseal Dysplasia, also known as strudwick syndrome, is related to chondrodysplasia and familial osteochondritis dissecans. An important gene associated with Spondylometaphyseal Dysplasia is COL10A1 (collagen, type X, alpha 1), and among its related pathways are PTEN Pathway and Intrinsic Prothrombin Activation Pathway. Related mouse phenotype behavior/neurological.

spondylometaphyseal dysplasia 7 32 strudwick syndrome 43

Diseases related to spondylometaphyseal dysplasia by text searches and GeneDecks gene sharing:

(show all 33)

id	Related Disease	Score	Top Affiliating Genes
1	chondrodysplasia	27.3	COL2A1, TRPV4, COL10A1
2	familial osteochondritis dissecans	12.6	COL10A1, COL2A1
3	metaphyseal dysplasia	12.6	COL10A1, COL2A1
4	pseudoachondroplasia	12.5	COL2A1, COL10A1
5	chst3-related skeletal dysplasia	12.5	COL2A1, COL10A1
6	spondyloepiphyseal dysplasia maroteaux type	12.4	TRPV4, COL2A1
7	epiphyseal dysplasia	12.4	COL2A1, TRPV4
8	hypertrophy of breast	12.3	COL2A1, COL10A1
9	x-linked spondyloepiphyseal dysplasia tarda	12.3	TRPV4, COL2A1
10	brachydactyly	12.2	COL2A1, TRPV4
11	chondrosarcoma	12.2	COL10A1, COL2A1
12	dwarfism	12.2	TRPV4, COL2A1
13	arthropathy	12.1	TRPV4, COL2A1
14	boomerang dysplasia	12.0	COL10A1, COL2A1
15	scoliosis	11.8	COL2A1, TRPV4, COL10A1
16	short stature	11.8	TRPV4, COL10A1, COL2A1
17	axial spondylometaphyseal dysplasia	9.0
18	spondylometaphyseal dysplasia algerian type	8.5
19	spondylometaphyseal dysplasia kozlowski type	8.5
20	spondyloepimetaphyseal dysplasia, strudwick type	8.2
21	spondylometaphyseal dysplasia corner fracture type	8.2
22	spondylometaphyseal dysplasia sedaghatian type	8.2
23	spondylometaphyseal dysplasia type a4	7.9
24	spondylometaphyseal dysplasia x-linked	7.9
25	schmid metaphyseal chondrodysplasia	7.3
26	spondylometaphyseal dysplasia east-african type	7.3
27	spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism	7.3
28	spondylometaphyseal dysplasia with cone-rod dystrophy	7.3
29	spondylometaphyseal dysplasia with dentinogenesis imperfecta	7.3
30	metaphyseal chondrodysplasia	6.4
31	metatropic dysplasia	6.4
32	opsismodysplasia	6.4
33	spondyloenchondrodysplasia	6.4

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to spondylometaphyseal dysplasia:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological phenotype	MP:0005386	8.5	TRPV4, COL10A1, COL2A1

Articles related to spondylometaphyseal dysplasia:

id	Title	Authors	Year	Affiliating Genes
1	Severe neonatal spondylometaphyseal dysplasia in two siblings. (19764033)	Czarny-Ratajczak M.... Kozlowski K.	2009	COL2A1
2	Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. (19232556)	Krakow D.... Cohn D.H.	2009	TRPV4
3	Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the 'Japanese' type. (10929364)	Savarirayan R.... Rimoin D.L.	2000	COL10A1
4	Mutation of the type X collagen gene 'COL10A1' causes spondylometaphyseal dysplasia. (9837818)	Ikegawa S.... Nakamura Y.	1998	COL10A1
5	Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. (8361538)	Jacenko O.... Olsen B.R.	1993	COL10A1

Genes related to spondylometaphyseal dysplasia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	COL10A1	collagen, type X, alpha 1	11.1	Publications, Summaries
2	TRPV4	transient receptor potential cation channel, subfamily V, member 4	11.0	Publications
3	COL2A1	collagen, type II, alpha 1	11.0	Publications

Pathways related to spondylometaphyseal dysplasia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	PTEN Pathway36	9.8	COL10A1
2	Intrinsic Prothrombin Activation Pathway36	9.6	COL10A1, COL2A1
3	Blood Coagulation Cascade36	9.5	COL2A1, COL10A1
4	Inhibition of Angiogenesis by TSP136	9.5	COL10A1, COL2A1
5	UPA-UPAR Pathway36	9.5	COL10A1, COL2A1
6	FAK1 Signaling36	9.4	COL2A1, COL10A1
7	Integrin Pathway36	9.4	COL10A1, COL2A1
8	GnRH Signaling36	9.3	COL10A1, COL2A1
9	Phospholipase-C Pathway36	9.3	COL2A1, COL10A1
10	Transendothelial Migration of Leukocytes36	9.0	COL2A1, COL10A1

Cellular components related to spondylometaphyseal dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum lumen	GO:005788	9.3	COL10A1, COL2A1

Biological processes related to spondylometaphyseal dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix organization	GO:030198	9.3	COL10A1, COL2A1
2	skeletal system development	GO:001501	9.0	COL10A1, COL2A1