Multiple Epiphyseal Dysplasia malady

NIH Rare Diseases: Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Both types have relatively mild signs and symptoms, which may include joint pain that most commonly affects the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED is additionally characterized by malformations of the hands, feet, and knees; scoliosis; and other abnormalities. The majority of individuals are diagnosed during childhood, but some mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene.³⁰

MalaCards: Multiple Epiphyseal Dysplasia, also known as epiphyseal dysplasia, multiple, 4, is related to macrocephaly with multiple epiphyseal dysplasia and distinctive facies and multiple epiphyseal dysplasia, dominant, and has symptoms including fatigueand joint pain. An important gene associated with Multiple Epiphyseal Dysplasia is COL9A2 (collagen, type IX, alpha 2), and among its related pathways are Axon guidance and PTEN Pathway. The compounds pentosidine and jararhagin have been mentioned in the context of this disorder. Affiliated tissues include hip or, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Disease Ontology: An osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. the disease has symptom fatigue, has symptom joint pain.⁶

Genetics Home Reference: Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.¹⁷

Wikipedia: Fairbanks disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form—1...⁴⁴ more...

OMIM: 607078

Aliases & Descriptions:

multiple epiphyseal dysplasia 6 30 17 8 32 43 epiphyseal dysplasia, multiple, 4 17 33 43 epiphyseal dysplasia, multiple, 3 17 33 43 epiphyseal dysplasia, multiple, 5 17 33 43 epiphyseal dysplasia, multiple, 2 17 33 43 epiphyseal dysplasia, multiple, 1 17 43 med 30 17 epiphyseal dysplasia, fairbank type 17 epiphyseal dysplasia, ribbing type 17 epiphyseal dysplasia, multiple 1 33

epiphyseal dysplasia, multiple 30 dysplasia 43 edm4 17 edm5 17 edm2 17 edm3 17 rmed 17 edm1 17 edm 30

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

(show top 50)    (show all 950)

id	Related Disease	Score	Top Affiliating Genes
1	macrocephaly with multiple epiphyseal dysplasia and distinctive facies	33.3	MMEDF, ACAN
2	multiple epiphyseal dysplasia, dominant	32.7	COL9A1, COMP, COL9A2, MATN3, COL9A3
3	x-linked spondyloepiphyseal dysplasia tarda	32.5	ACAN, COL2A1, COMP
4	thanatophoric dysplasia	32.4	PTH1R, COMP
5	otospondylomegaepiphyseal dysplasia	32.1	COL2A1, COL11A2
6	spondyloepiphyseal dysplasia congenita	32.0	COL2A1, COMP
7	epiphyseal dysplasia	31.3	COL11A2, CRELD2, PTH1R, MATN3, MMEDF, CD36
8	myopathy	30.5	COL9A1, COL9A3, MATN3, COMP, DCN, COL9A2
9	pseudoachondroplasia	30.5	SLC26A2, MATN3, MATN1, CD36, CALM3, CALM1
10	chst3-related skeletal dysplasia	30.2	COMP, PTH1R, COL2A1, ACAN, SLC26A2
11	sponastrime dysplasia	30.0	MATN3, COMP
12	boomerang dysplasia	29.9	MATN3, COL11A2, COL2A1, SLC26A2, COMP
13	metaphyseal dysplasia	29.8	COL2A1, MATN3, PTH1R, CRELD2
14	achondroplasia	29.2	COL2A1, COMP, PTH1R, ACAN
15	diastrophic dysplasia	29.0	MATN3, COL9A2, COMP, COL9A3, COL2A1, SLC26A1
16	hip dysplasia	28.8	COL2A1, SLC26A2
17	atelosteogenesis	28.5	COL9A2, SLC26A1, SLC26A2
18	schmid metaphyseal chondrodysplasia	28.3	MATN3, CRELD2
19	semd	27.9	ACAN, COL2A1, MATN3
20	arthropathy	27.7	COMP, COL2A1, ACAN, DCN
21	weissenbacher-zweymuller syndrome	27.5	COL2A1, COL11A2
22	congenital heart defect	26.6	C2orf61, CD36, CALM3, CALM1
23	achondrogenesis type ii	26.3	COL2A1, CD36
24	brachydactyly	26.1	ACAN, COL2A1, COMP
25	otosclerosis	25.8	PTH1R, SLC26A2, CD36
26	achondrogenesis	25.5	COL2A1, COMP, CD36, SLC26A2, SLC26A1
27	chondrodysplasia	25.0	COL11A1, COL2A1, ACAN, SLC26A2, COMP, CRELD2
28	dwarfism	24.9	COMP, MATN1, SLC26A2, ACAN, COL2A1, MATN3
29	metaphyseal chondrodysplasia	24.9	PTH1R, CRELD2
30	hearing loss	24.7	COL11A2, COL9A2, COL9A3, COL9A1, COL2A1, COL11A1
31	osteochondrodysplasia	24.7	COL11A2, SLC26A2, COMP, PTH1R
32	short stature	24.4	COMP, ACAN, COL9A3, COL2A1, COL9A1, CD36
33	osteochondritis dissecans	24.2	COL9A3, ACAN, COL9A1, COL9A2, MATN3, CD36
34	strabismus	24.1	COL9A1, COL11A1, COL2A1
35	retinal detachment	24.0	COL9A2, COL11A1, COL9A1, COL2A1
36	rheumatoid arthritis	23.5	MATN1, COL2A1, ACAN, DCN, CD36, COMP
37	arthritis	23.2	SLC26A2, DCN, COL11A2, COL2A1, COMP, COL9A2
38	vitreoretinopathy	23.1	COL11A1, CD36, COL2A1
39	osteoarthritis	22.4	CD36, MATN1, MATN3, CALM1, COL11A2, COL9A2
40	cleft palate	22.0	COL9A2, COL11A2, COL11A1, CD36, COL2A1, COL9A1
41	lumbar disc disease	13.4	COL9A2, COL9A3
42	relapsing polychondritis	13.1	MATN1, COMP, COL2A1
43	degenerative disc disease	13.1	ACAN, COL9A3
44	localized scleroderma	12.9	CD36, DCN
45	synovitis	12.8	ACAN, MATN1, COMP, COL2A1
46	odontogenic myxoma	12.8	ACAN, CD36, DCN
47	stickler syndrome, type 2	12.8	COL11A1, COL11A2
48	periostitis	12.8	MATN3, COL2A1, CD36
49	clubfoot	12.8	SLC26A1, COL9A1, COL9A2, COL2A1, SLC26A2
50	stickler syndrome type 1	12.7	COL11A1, COL2A1

Clinical features from OMIM: 607078
Symptoms: fatigue, joint pain.⁶

Approved drugs:

Drug clinical trials:

FMA organs/tissues related to multiple epiphyseal dysplasia:

¹¹

MGI Mouse Phenotypes related to multiple epiphyseal dysplasia:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	7.9	SLC26A2, DCN, ACAN, COL2A1, COL11A1, COL11A2
2	limbs/digits/tail phenotype	MP:0005371	7.7	SLC26A2, ACAN, EIF2AK3, COL9A1, COL2A1, COL11A1
3	digestive/alimentary phenotype	MP:0005381	7.3	SLC26A1, DCN, ACAN, EIF2AK3, COL2A1, COL11A1
4	growth/size phenotype	MP:0005378	7.2	DCN, ACAN, EIF2AK3, COL2A1, COMP, COL11A2
5	immune system phenotype	MP:0005387	6.8	SLC26A1, DCN, ACAN, EIF2AK3, COL9A1, COL2A1
6	skeleton phenotype	MP:0005390	6.3	CD36, SLC26A2, DCN, ACAN, EIF2AK3, COL9A1

Articles related to multiple epiphyseal dysplasia:

(show top 50)    (show all 56)

id	Title	Authors	Year	Affiliating Genes
1	Revisit of multiple epiphyseal dysplasia: ethnic diff erence in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. (21965141)	Kim O.H.... Park S.S.	2011	COMP, MATN3
2	Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. (21922596)	Jackson G.C.... Briggs M.D.	2011	COMP, COL2A1, MATN3
3	Multiple epiphyseal dysplasia. (19995321)	Dahlqvist J.... Gustavson K.H.	2009	COL9A2
4	A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. (18553123)	Miyake A.... Ikegawa S.	2008	SLC26A2
5	An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia. (18338162)	Pazzaglia U.E.... Zarattini G.	2008	COMP
6	Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. (18546327)	Vatanavicharn N.... Rimoin D.L.	2008	COMP, COL9A2, SLC26A2
7	Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. (17133256)	Zankl A.... Briggs M.D.	2007	COMP
8	Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. (16691584)	Itoh T.... Ikegawa S.	2006	COL9A1, COL9A2, MATN3
9	Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2). (16440132)	Takahashi M.... Yasui N.	2006	COL9A2
10	MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. (15503005)	Lachman R.S.... Rimoin D.L.	2005	COMP, MATN3
11	COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. (15756302)	Kennedy J.... Briggs M.D.	2005	COMP
12	Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. (16287128)	Cotterill S.L.... Briggs M.D.	2005	MATN3
13	Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. (15633184)	Nakashima E.... Nishimura G.	2005	SLC26A2
14	Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia. (15948199)	Maeda K.... Ikegawa S.	2005	MATN3
15	Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. (15551337)	Nakashima E.... Ikegawa S.	2005	COL9A1, COL9A2, COL9A3
16	Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. (14729835)	Jackson G.C.... Briggs M.D.	2004	MATN3
17	Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. (14994237)	Makitie O.... Cole W.G.	2004	MATN3
18	Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. (15459972)	Mabuchi A.... Ikegawa S.	2004	COL9A1, COL9A2, MATN3
19	Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. (15266613)	Mabuchi A.... Ikegawa S.	2004	COMP
20	Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. (12966518)	Maekitie O.... Cole W.G.	2003	SLC26A2
21	Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. (12884427)	Mostert A.K.... Lindhout D.	2003	MATN3
22	Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. (12525546)	Ballhausen D.... Superti-Furga A.	2003	SLC26A2
23	Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (12768438)	Song H.R.... Jung S.C.	2003	COMP
24	A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. (14684695)	Jakkula E.... Superti-Furga A.	2003	COMP
25	Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (12483304)	Mabuchi A.... Ikegawa S.	2003	COMP
26	Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)	Briggs M.D.... Chapman K.L.	2002	COMP, COL9A1, COL9A2
27	Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. (11528506)	Mortier G.R.... Briggs M.D.	2001	COMP, COL9A1, COL9A2
28	Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. (11200990)	Unger S.L.... Cohn D.H.	2001	COL9A2, COL9A3
29	Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX. (11084047)	Thur J.... Maurer P.	2001	COMP, CD36
30	Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. (11389160)	Bayoumi R.... al-Gazali L.I.	2001	ACAN, MMEDF
31	Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia. (10842095)	Spayde E.C.... Olsen B.R.	2000	COL9A2
32	A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. (10655510)	Bonnemann C.G.... Kunkel L.M.	2000	COMP, COL9A3
33	Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. (10678658)	Lohiniva J.... Ala-Kokko L.	2000	COL9A1, COL9A2, COL9A3
34	Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (10405447)	Deere M.... Hecht J.T.	1999	COMP
35	Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. (10465113)	Superti-Furga A.... Kunze J.	1999	COMP, COL9A2, SLC26A2
36	Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. (10364514)	Holden P.... Briggs M.D.	1999	COL9A2, COL9A3
37	COL9A3: A third locus for multiple epiphyseal dysplasia. (10090888)	Paassilta P.... Ala-Kokko L.	1999	COL9A1, COL9A2, COL9A3
38	A large family with multiple epiphyseal dysplasia linked to COL9A2 gene. (9605591)	van Mourik J.B.... Mariman E.C.	1998	COL9A2
39	Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (9452026)	Loughlin J.... Sykes B.	1998	COMP
40	Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. (9463320)	Briggs M.D.... Cohn D.H.	1998	COMP
41	Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. (9921895)	Ikegawa S.... Nakamura Y.	1998	COMP
42	Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. (9021009)	Ballo R.... Ramesar R.S.	1997	COMP
43	Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. (9184241)	Susic S.... Cole W.G.	1997	COMP
44	Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)	Cohn D.H.... Knowlton R.G.	1996	COMP
45	A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). (8528240)	Muragaki Y.... Hamel B.C.	1996	COL9A2
46	A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2). (8702162)	Muragaki Y.... Olsen B.R.	1996	COL9A2
47	Genetic heterogeneity in multiple epiphyseal dysplasia. (7887425)	Deere M.... Hecht J.T.	1995	COL11A2, COL9A2, COL11A1
48	Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. (7942845)	Briggs M.D.... Lipson M.H.	1994	COL9A2
49	A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. (7907311)	Rimoin D.L.... Reinker K.	1994	DCN
50	Multiple Epiphyseal Dysplasia, Rec essive (20301483)	BonafAc L.... Superti-Furga A.	1993	SLC26A2

Genes related to multiple epiphyseal dysplasia according to GeneCards:

(show all 22)

id	Symbol	Description	Score	GeneCards Section Context
1	COL9A2	collagen, type IX, alpha 2	11.1	Publications, Summaries
2	COMP	cartilage oligomeric matrix protein	11.1	Publications, Summaries
3	MATN3	matrilin 3	11.1	Publications, Summaries
4	COL9A3	collagen, type IX, alpha 3	11.1	Publications, Summaries
5	COL9A1	collagen, type IX, alpha 1	11.1	Summaries, Publications
6	MMEDF	Macrocephaly with multiple epiphyseal dysplasia and distinctive facies	11.1	Publications, Aliases & Descriptions
7	SLC26A2	solute carrier family 26 (sulfate transporter), member 2	11.0	Publications
8	ACAN	aggrecan	11.0	Publications
9	CRELD2	cysteine-rich with EGF-like domains 2	11.0
10	SLC26A1	solute carrier family 26 (sulfate transporter), member 1	11.0
11	MATN1	matrilin 1, cartilage matrix protein	11.0
12	DUSP22	dual specificity phosphatase 22	11.0	Disorders
13	COL11A2	collagen, type XI, alpha 2	11.0	Publications
14	C2orf61	chromosome 2 open reading frame 61	11.0	Disorders
15	COL2A1	collagen, type II, alpha 1	11.0	Publications
16	DCN	decorin	11.0	Publications
17	PTH1R	parathyroid hormone 1 receptor	11.0
18	EIF2AK3	eukaryotic translation initiation factor 2-alpha kinase 3	11.0
19	CALM1	calmodulin 1 (phosphorylase kinase, delta)	11.0
20	COL11A1	collagen, type XI, alpha 1	11.0	Publications
21	CALM3	calmodulin 3 (phosphorylase kinase, delta)	11.0	Disorders
22	CD36	CD36 molecule (thrombospondin receptor)	11.0	Publications

Pathways related to multiple epiphyseal dysplasia according to GeneDecks:

(show all 23)

id	Pathway	Score	Top Affiliating Genes
1	Axon guidance38	9.7	COL9A1, COL2A1, COL9A3, COL9A2
2	PTEN Pathway36	9.2	COL9A1, COL11A1, COL9A3, COL9A2, COL11A2
3	Focal adhesion20	9.2	COL11A2, COMP, COL11A1, COL2A1
4	Cytoskeleton remodeling_RalB regulation pathway41	9.1	CALM3, CALM1
5	Intrinsic Prothrombin Activation Pathway36	9.0	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
6	Blood Coagulation Cascade36	9.0	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
7	Protein digestion and absorption20	9.0	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
8	UPA-UPAR Pathway36	9.0	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
9	FAK1 Signaling36	8.9	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
10	Integrin Pathway36	8.9	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
11	GnRH Signaling36	8.9	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
12	ILK Signaling36	8.9	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
13	MAPK Signaling36	8.9	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
14	Rho Family GTPases36	8.8	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
15	Cytoskeleton remodeling RalB regulation pathway10	8.8	CALM3, CALM1
16	ERK Signaling36	8.8	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
17	ECM-receptor interaction20	8.8	COL2A1, COL11A1, COMP, COL11A2, CD36
18	Cell adhesion Integrin inside-out signaling10	8.8	COL2A1, CALM1, CALM3
19	Molecular Mechanisms of Cancer36	8.7	COL11A2, COL9A2, COL9A3, COL11A1, COL2A1, COL9A1
20	Cell adhesion_Integrin inside-out signaling41	8.7	CALM3, CALM1, COL2A1
21	Inhibition of Angiogenesis by TSP136	8.5	CD36, COL9A1, COL2A1, COL11A1, COL9A3, COL9A2
22	Transendothelial Migration of Leukocytes36	7.6	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
23	Phospholipase-C Pathway36	7.6	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2

Compounds related to multiple epiphyseal dysplasia according to GeneDecks:

(show all 20)

id	Compound	Score	Top Affiliating Genes
1	pentosidine32	10.0	COMP, COL2A1, ACAN
2	jararhagin32	9.8	CD36, MATN1
3	safranin o32	9.8	CD36, ACAN
4	pyridinoline32	9.7	CD36, COMP, COL2A1
5	agarose32	9.5	DCN, ACAN, COL2A1, COMP
6	keratan sulfate32	9.5	DCN, ACAN, COMP, CD36
7	dermatan sulfate32	9.5	DCN, ACAN, COMP, CD36
8	chondroitin sulfate32 18	10.4	DCN, ACAN, COMP, CD36
9	tgf beta132	9.4	CD36, COMP, ACAN, DCN
10	hyaluronic acid32 18	10.3	DCN, ACAN, COMP, CD36
11	teriparatide32 9 9	11.2	CD36, PTH1R
12	hydroxyproline32 18	10.2	DCN, COL2A1, CD36
13	sulfate32 18	10.2	SLC26A2, SLC26A1, DCN, ACAN, COL2A1, COMP
14	vitamin d32	9.0	ACAN, COL2A1, COMP, PTH1R, CD36
15	alginate32	8.9	CD36, MATN1, COMP, COL2A1, ACAN, DCN
16	procollagen32	8.9	DCN, ACAN, COL2A1, COMP, MATN1, CD36
17	glycosaminoglycan32	8.9	DCN, ACAN, COL2A1, COMP, MATN1, CD36
18	nitric oxide32 9 18 9	11.4	ACAN, EIF2AK3, COL2A1, PTH1R, MATN1, DCN
19	dexamethasone32 42 34 9 9	12.3	SLC26A2, DCN, ACAN, COL2A1, PTH1R, CD36
20	retinoic acid32 42 18	10.3	DCN, ACAN, COL2A1, COMP, PTH1R, MATN1

Cellular components related to multiple epiphyseal dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	collagen type IX	GO:005594	10.0	COL9A2, COL9A3, COL9A1
2	proteinaceous extracellular matrix	GO:005578	9.6	MATN1, MATN3, COMP, ACAN
3	collagen type XI	GO:005592	9.5	COL11A2, COL11A1
4	endoplasmic reticulum lumen	GO:005788	8.6	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
5	extracellular region	GO:005576	6.9	DCN, ACAN, COL9A1, COL2A1, COL11A1, COL9A3

Biological processes related to multiple epiphyseal dysplasia according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	growth plate cartilage development	GO:003417	10.0	COMP, COL9A1
2	organ morphogenesis	GO:009887	9.7	COMP, COL9A1, DCN
3	sulfate transport	GO:008272	9.7	SLC26A1, SLC26A2
4	tissue homeostasis	GO:001894	9.7	COL11A2, COL2A1, COL9A1
5	chondrocyte differentiation	GO:002062	9.3	COL9A1, COL2A1, COL11A2, PTH1R
6	collagen fibril organization	GO:030199	9.2	COL2A1, COL11A1, COL11A2
7	extracellular matrix organization	GO:030198	8.8	COL9A1, COL2A1, COL11A1, COL9A3, COL9A2, COL11A2
8	skeletal system development	GO:001501	8.4	MATN3, ACAN, EIF2AK3, COL2A1, COMP, COL9A2

Molecular functions related to multiple epiphyseal dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	secondary active sulfate transmembrane transporter activity	GO:008271	10.0	SLC26A1, SLC26A2
2	sulfate transmembrane transporter activity	GO:015116	9.7	SLC26A1, SLC26A2
3	extracellular matrix structural constituent conferring tensile strength	GO:030020	9.3	COL11A2, COL9A2, COL9A3, COL2A1, COL9A1
4	extracellular matrix structural constituent	GO:005201	8.9	ACAN, COL11A1, COMP, MATN3, MATN1