Epiphyseal Dysplasia, Multiple, 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 3

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 3:

Name: Epiphyseal Dysplasia, Multiple, 3 ⁵⁶ ²⁹ ¹³ ⁶ ⁷¹

Multiple Epiphyseal Dysplasia 3 ¹² ⁵² ⁷³ ¹⁵

Edm3 ⁵⁶ ¹² ⁵² ⁷³

Epiphyseal Dysplasia, Multiple, 3, with or Without Myopathy ⁵⁶ ²⁹

Multiple Epiphyseal Dysplasia 3 with or Without Myopathy ¹²

Dysplasia, Epiphyseal, Multiple, Type 3 ³⁹

Epiphyseal Dysplasia Multiple 3 ⁵²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm1 )
onset of symptoms in childhood with stiff, painful joints
joint replacement often necessary

HPO:

³¹

epiphyseal dysplasia, multiple, 3:
Inheritance autosomal dominant inheritance heterogeneous

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070304

OMIM ⁵⁶ 600969

OMIM Phenotypic Series ⁵⁶ PS132400

MeSH ⁴³ D010009

MedGen ⁴¹ C1832998 C3152083

SNOMED-CT via HPO ⁶⁸ 225655006 249939004 254080004 more

UMLS ⁷¹ C1832998

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Summaries for Epiphyseal Dysplasia, Multiple, 3

UniProtKB/Swiss-Prot : ⁷³ Multiple epiphyseal dysplasia 3: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 3, also known as multiple epiphyseal dysplasia 3, is related to multiple epiphyseal dysplasia and epiphyseal dysplasia, multiple, 1. An important gene associated with Epiphyseal Dysplasia, Multiple, 3 is COL9A3 (Collagen Type IX Alpha 3 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. Affiliated tissues include bone, and related phenotypes are epiphyseal dysplasia and osteoarthritis

Disease Ontology : ¹² A multiple epiphyseal dysplasia due to collagen 9 anomaly that has material basis in heterozygous mutation in the COL9A3 gene on chromosome 20q13.

OMIM : ⁵⁶ Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (132400). (600969)

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Related Diseases for Epiphyseal Dysplasia, Multiple, 3

Diseases in the Multiple Epiphyseal Dysplasia family:

Epiphyseal Dysplasia, Multiple, 1	Epiphyseal Dysplasia, Multiple, 4
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal Dysplasia, Multiple, 3
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal Dysplasia, Multiple, 6
Epiphyseal Dysplasia, Multiple, 7	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly
Multiple Epiphyseal Dysplasia, Autosomal Dominant	Multiple Epiphyseal Dysplasia, Recessive

Diseases related to Epiphyseal Dysplasia, Multiple, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)

#	Related Disease	Score	Top Affiliating Genes
1	multiple epiphyseal dysplasia	31.5	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
2	epiphyseal dysplasia, multiple, 1	28.8	TMED2 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
3	epiphyseal dysplasia, multiple, 2	27.8	SMAP2 SLC26A2 PDZD11 MATN3 COL9A3 COL9A2
4	back pain	10.1	COL9A3 COL9A2
5	bone deterioration disease	10.0	COL9A3 COL9A2
6	intervertebral disc disease	10.0	COL9A3 COL9A2
7	autosomal recessive stickler syndrome	9.9	COL9A3 COL9A2 COL9A1
8	achondrogenesis, type ib	9.9	SLC26A2 COL9A1
9	otospondylomegaepiphyseal dysplasia, autosomal recessive	9.9	COL9A3 COL9A2 COL9A1
10	bone structure disease	9.9	COL9A3 COL9A2
11	osteochondrosis	9.9	COL9A3 COL9A2 COL9A1
12	fibrochondrogenesis	9.9	COL9A3 COL9A2 COL9A1
13	spondyloepiphyseal dysplasia congenita	9.9	MATN3 COL9A3 COL9A1
14	spinal stenosis	9.8	COL9A3 COL9A2 COL9A1
15	hypochondrogenesis	9.8	SLC26A2 MATN3 COL9A1
16	spondyloepiphyseal dysplasia with congenital joint dislocations	9.8	SLC26A2 COL9A2 COL9A1
17	vitreous syneresis	9.7	SMAP2 COL9A3 COL9A2
18	legg-calve-perthes disease	9.7	SLC26A2 MATN3 COL9A1
19	clubfoot	9.7	SLC26A2 COL9A2 COL9A1
20	multiple epiphyseal dysplasia, autosomal dominant	9.7	MATN3 COL9A3 COL9A2 COL9A1
21	osteochondritis dissecans	9.6	MATN3 COL9A3 COL9A2 COL9A1
22	stickler syndrome	9.6	MATN3 COL9A3 COL9A2 COL9A1
23	atelosteogenesis	9.6	SLC26A2 COL9A3 COL9A2 COL9A1
24	otosclerosis	9.6	SLC26A2 MATN3
25	kniest dysplasia	9.5	SMAP2 COL9A3 COL9A2 COL9A1
26	marshall syndrome	9.5	SMAP2 COL9A3 COL9A2 COL9A1
27	epiphyseal dysplasia, multiple, 6	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
28	epiphyseal dysplasia, multiple, 5	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
29	epiphyseal dysplasia, multiple, 4	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
30	achondrogenesis	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
31	diastrophic dysplasia	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
32	spondyloepimetaphyseal dysplasia, matrilin-3 related	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
33	pseudoachondroplasia	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
34	bone development disease	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
35	odontochondrodysplasia	9.3	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
36	multiple epiphyseal dysplasia due to collagen 9 anomaly	7.5	TMED2 SMAP2 SLC26A2 PDZD11 MATN3 EDEM2

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 3:

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Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 3

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 3:

³¹ (show all 10)

#	Description	HPO Source Accession
1	epiphyseal dysplasia ³¹	HP:0002656
2	osteoarthritis ³¹	HP:0002758
3	short metacarpal ³¹	HP:0010049
4	proximal muscle weakness ³¹	HP:0003701
5	mild short stature ³¹	HP:0003502
6	irregular epiphyses ³¹	HP:0010582
7	delayed epiphyseal ossification ³¹	HP:0002663
8	small epiphyses ³¹	HP:0010585
9	abnormality of the hip joint ³¹	HP:0001384
10	mildly elevated creatine kinase ³¹	HP:0008180

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Limbs:
osteoarthritis
late ossifying epiphyses
small, irregular epiphyses

Skeletal Hands:
short metacarpals
normal hands

Skeletal Pelvis:
hip arthrosis

Muscle Soft Tissue:
proximal muscle weakness
mild variability in muscle fiber size

Growth Height:
short stature, mild

Laboratory Abnormalities:
mildly elevated creatine phosphokinase (cpk)

Clinical features from OMIM:

600969

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 3:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.02	COL9A1 COL9A2 MATN3 SLC26A2 TMED2

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Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 3

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 3

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Genetic Tests for Epiphyseal Dysplasia, Multiple, 3

Genetic tests related to Epiphyseal Dysplasia, Multiple, 3:

#	Genetic test	Affiliating Genes
1	Epiphyseal Dysplasia, Multiple, 3 ²⁹	COL9A3
2	Epiphyseal Dysplasia, Multiple, 3, with or Without Myopathy ²⁹

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Anatomical Context for Epiphyseal Dysplasia, Multiple, 3

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 3:

⁴⁰

Bone

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Publications for Epiphyseal Dysplasia, Multiple, 3

Articles related to Epiphyseal Dysplasia, Multiple, 3:

#	Title	Authors	PMID	Year
1	Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. ⁶ ⁵⁶	Nakashima E...Ikegawa S	15551337	2005
2	A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. ⁵⁶ ⁶	Bonnemann CG...Kunkel LM	10655510	2000
3	COL9A3: A third locus for multiple epiphyseal dysplasia. ⁶ ⁵⁶	Paassilta P...Ala-Kokko L	10090888	1999
4	Multiple Epiphyseal Dysplasia, Autosomal Dominant ⁶	Briggs MD...Mortier GR	20301302	2003
5	Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. ⁶	Lohiniva J...Ala-Kokko L	10678658	2000
6	A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). ⁵⁶	Muragaki Y...Hamel BC	8528240	1996
7	The Arabidopsis RRM domain protein EDM3 mediates race-specific disease resistance by controlling H3K9me2-dependent alternative polyadenylation of RPP7 immune receptor transcripts. ⁶¹	Lai Y...Eulgem T	30407670	2019
8	Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. ⁶¹	Mostert AK...Lindhout D	12884427	2003
9	[Radiologische Besonderheiten einer bilateral vererblichen Mikro-Epiphysendysplasie - deutliche Entität einer Skelettdysplasie]. ⁶¹	Mostert AK...Lindhout D	12101480	2002
10	Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. ⁶¹	Unger SL...Cohn DH	11200990	2001

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Genes for Epiphyseal Dysplasia, Multiple, 3

Genes related to Epiphyseal Dysplasia, Multiple, 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	1316.76	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	20301302 10090888 10655510 (more) 15551337 10678658
2	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	7.58	DISEASES inferred ¹⁵
3	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	7.24	DISEASES inferred ¹⁵
4	MATN3	Matrilin 3	Protein Coding	7.04	DISEASES inferred ¹⁵
5	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	6.74	DISEASES inferred ¹⁵
6	EDEM2	ER Degradation Enhancing Alpha-Mannosidase Like Protein 2	Protein Coding	6.36	DISEASES inferred ¹⁵
7	SMAP2	Small ArfGAP2	Protein Coding	6.35	DISEASES inferred ¹⁵
8	PDZD11	PDZ Domain Containing 11	Protein Coding	6.19	DISEASES inferred ¹⁵
9	TMED2	Transmembrane P24 Trafficking Protein 2	Protein Coding	6.13	DISEASES inferred ¹⁵

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Variations for Epiphyseal Dysplasia, Multiple, 3

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

⁶ (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	COL9A3	NM_001853.4(COL9A3):c.148-2A>T	SNV	Pathogenic	17138		20:61449868-61449868	20:62818516-62818516
2	COL9A3	NM_001853.4(COL9A3):c.183+5G>A	SNV	Pathogenic	17140		20:61449910-61449910	20:62818558-62818558
3	COL9A3	NM_001853.4(COL9A3):c.369+2T>C	SNV	Pathogenic	374320	rs1057518693	20:61452884-61452884	20:62821532-62821532
4	COL9A3	NM_001853.4(COL9A3):c.183+4A>C	SNV	Likely pathogenic	488486	rs1555821817	20:61449909-61449909	20:62818557-62818557
5	COL9A3	NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter)	SNV	Conflicting interpretations of pathogenicity	632378	rs1027769042	20:61457571-61457571	20:62826219-62826219
6	COL9A3	NM_001853.4(COL9A3):c.2034_2037dup (p.Gly680fs)	duplication	Uncertain significance	632379	rs1190301717	20:61472061-61472062	20:62840709-62840710
7	COL9A3	NM_001853.4(COL9A3):c.1425_1442del (p.Lys477_Pro482del)	deletion	Uncertain significance	689615		20:61467559-61467576	20:62836207-62836224
8	COL9A3	NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)	SNV	Uncertain significance	392918	rs139401633	20:61453127-61453127	20:62821775-62821775
9	COL9A3	NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr)	SNV	Uncertain significance	387925	rs948698664	20:61453970-61453970	20:62822618-62822618
10	COL9A3	NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp)	SNV	Uncertain significance	522664	rs1422176468	20:61460135-61460135	20:62828783-62828783
11	COL9A3	NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala)	SNV	Uncertain significance	522670	rs1555824129	20:61461902-61461902	20:62830550-62830550
12	COL9A3	NM_001853.4(COL9A3):c.1987G>A (p.Asp663Asn)	SNV	Uncertain significance	587492	rs149805455	20:61472016-61472016	20:62840664-62840664
13	COL9A3	NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu)	SNV	Benign/Likely benign	193218	rs2294984	20:61448466-61448466	20:62817114-62817114
14	COL9A3	NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu)	SNV	Benign	195873	rs751557	20:61463522-61463522	20:62832170-62832170

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	COL9A3	p.Gly35Asp	VAR_072736	rs139073636

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Expression for Epiphyseal Dysplasia, Multiple, 3

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 3.

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Pathways for Epiphyseal Dysplasia, Multiple, 3

Pathways related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	12.11	MATN3 COL9A3 COL9A2 COL9A1
2	ECM-receptor interaction ³⁶ Show member pathways Integrin cell surface interactions ⁶⁵	11.63	COL9A3 COL9A2 COL9A1
3	Gastric Cancer Network 2 ¹	10.84	COL9A3 COL9A1
4	NCAM1 interactions ⁶⁵	10.7	COL9A3 COL9A2 COL9A1
5	ECM proteoglycans ⁶⁵	10.68	MATN3 COL9A3 COL9A2 COL9A1

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GO Terms for Epiphyseal Dysplasia, Multiple, 3

Cellular components related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	collagen-containing extracellular matrix	GO:0062023	9.62	MATN3 COL9A3 COL9A2 COL9A1
2	extracellular matrix	GO:0031012	9.46	MATN3 COL9A3 COL9A2 COL9A1
3	collagen trimer	GO:0005581	9.43	COL9A3 COL9A2 COL9A1
4	endoplasmic reticulum lumen	GO:0005788	9.35	MATN3 EDEM2 COL9A3 COL9A2 COL9A1
5	collagen type IX trimer	GO:0005594	8.8	COL9A3 COL9A2 COL9A1

Biological processes related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix organization	GO:0030198	8.92	MATN3 COL9A3 COL9A2 COL9A1

Molecular functions related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.13	COL9A3 COL9A2 COL9A1
2	extracellular matrix structural constituent	GO:0005201	8.92	MATN3 COL9A3 COL9A2 COL9A1

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Sources for Epiphyseal Dysplasia, Multiple, 3

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

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⁶¹ PubMed

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⁶⁴ R&D Systems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Epiphyseal Dysplasia, Multiple, 3 (EDM3)

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 3

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Epiphyseal Dysplasia, Multiple, 3

Related Diseases for Epiphyseal Dysplasia, Multiple, 3

Diseases in the Multiple Epiphyseal Dysplasia family:

Diseases related to Epiphyseal Dysplasia, Multiple, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 3:

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 3

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 3:

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 3

Genetic Tests for Epiphyseal Dysplasia, Multiple, 3

Genetic tests related to Epiphyseal Dysplasia, Multiple, 3:

Anatomical Context for Epiphyseal Dysplasia, Multiple, 3

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 3:

Publications for Epiphyseal Dysplasia, Multiple, 3

Articles related to Epiphyseal Dysplasia, Multiple, 3:

Genes for Epiphyseal Dysplasia, Multiple, 3

Genes related to Epiphyseal Dysplasia, Multiple, 3 (1 elite genes):

Variations for Epiphyseal Dysplasia, Multiple, 3

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

Expression for Epiphyseal Dysplasia, Multiple, 3

Pathways for Epiphyseal Dysplasia, Multiple, 3

Pathways related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

GO Terms for Epiphyseal Dysplasia, Multiple, 3

Cellular components related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

Biological processes related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

Molecular functions related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

Sources for Epiphyseal Dysplasia, Multiple, 3