Epiphyseal Dysplasia, Multiple, 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

EDM5 MCID: EPP013 MIFTS: 44	Epiphyseal Dysplasia, Multiple, 5 (EDM5) Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 5

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 5:

Name: Epiphyseal Dysplasia, Multiple, 5 ⁵⁶ ¹³ ⁴³ ⁷¹

Edm5 ⁵⁶ ¹² ⁵² ⁵⁸ ⁷³

Multiple Epiphyseal Dysplasia 5 ¹² ⁵² ⁷³ ¹⁵

Multiple Epiphyseal Dysplasia Type 5 ⁵⁸ ²⁹ ⁶

Bhmed ⁵⁶ ¹² ⁵⁸

Microepiphyseal Dysplasia, Bilateral Hereditary; Bhmed ⁵⁶

Microepiphyseal Dysplasia, Bilateral Hereditary ⁵⁶

Bilateral Hereditary Micro-Epiphyseal Dysplasia ⁵⁸

Bilateral Hereditary Microepiphyseal Dysplasia ¹²

Multiple Epiphyseal Dysplasia, Matn3-Related ⁵⁶

Multiple Epiphyseal Dysplasia, Matn3 Related ⁵²

Multiple Epiphyseal Dysplasia Matn3-Related ¹²

Dysplasia, Epiphyseal, Multiple, Type 5 ³⁹

Epiphyseal Dysplasia Multiple 5 ⁵²

Polyepiphyseal Dysplasia Type 5 ⁵⁸

Med5 ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

multiple epiphyseal dysplasia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm1 )
allelic to spondyloepimetaphyseal dysplasia, matn-3 related
allelic to hand osteoarthritis

HPO:

³¹

epiphyseal dysplasia, multiple, 5:
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)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Chondrodysplasia punctata

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0070299

OMIM ⁵⁶ 607078

OMIM Phenotypic Series ⁵⁶ PS132400

MeSH ⁴³ C535505 D010009

MESH via Orphanet ⁴⁴ C535505

ICD10 via Orphanet ³³ Q77.3

UMLS via Orphanet ⁷² C1846843

Orphanet ⁵⁸ ORPHA93311

MedGen ⁴¹ C1846843

SNOMED-CT via HPO ⁶⁸ 22325002 225655006 254080004 more

UMLS ⁷¹ C1846843

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Summaries for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot : ⁷³ Multiple epiphyseal dysplasia 5: 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. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 5, also known as edm5, is related to multiple epiphyseal dysplasia and dwarfism, and has symptoms including hip pain and knee pain. An important gene associated with Epiphyseal Dysplasia, Multiple, 5 is MATN3 (Matrilin 3), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. Affiliated tissues include bone, and related phenotypes are epiphyseal dysplasia and osteoarthritis

Disease Ontology : ¹² A multiple epiphyseal dysplasia that has material basis in heterozygous mutation in the MATN3 gene on chromosome 2p24.

More information from OMIM: 607078 PS132400

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Related Diseases for Epiphyseal Dysplasia, Multiple, 5

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)

#	Related Disease	Score	Top Affiliating Genes
1	multiple epiphyseal dysplasia	30.7	SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
2	dwarfism	10.4
3	med23	10.3
4	back pain	10.1	COL9A3 COL9A2
5	vitreous syneresis	10.1	COL9A3 COL9A2
6	skeletal dysplasias	10.0	MATN3 COMP
7	platyspondylic lethal skeletal dysplasia, torrance type	10.0	MATN3 COMP
8	bone deterioration disease	10.0	COL9A3 COL9A2
9	intervertebral disc disease	9.9	COL9A3 COL9A2
10	achondrogenesis, type ib	9.9	SLC26A2 COL9A1
11	otosclerosis	9.8	SLC26A2 MATN3
12	chondromalacia	9.8	MATN1 COMP
13	autosomal recessive stickler syndrome	9.8	COL9A3 COL9A2 COL9A1
14	kniest dysplasia	9.8	COL9A3 COL9A2 COL9A1
15	marshall syndrome	9.8	COL9A3 COL9A2 COL9A1
16	osteochondrosis	9.8	COL9A3 COL9A2 COL9A1
17	cartilage disease	9.7	MATN1 COMP
18	fibrochondrogenesis	9.7	COL9A3 COL9A2 COL9A1
19	spinal stenosis	9.7	COL9A3 COL9A2 COL9A1
20	legg-calve-perthes disease	9.7	SLC26A2 MATN3 COL9A1
21	relapsing polychondritis	9.7	MATN1 COMP
22	achondrogenesis, type ia	9.7	SLC26A2 MATN4
23	bone structure disease	9.7	MATN1 COL9A3 COL9A2
24	achondrogenesis, type ii	9.6	MATN3 MATN1 COMP
25	clubfoot	9.6	SLC26A2 COL9A2 COL9A1
26	campomelic dysplasia	9.6	MATN1 COL9A1
27	stickler syndrome	9.5	MATN3 COL9A3 COL9A2 COL9A1
28	atelosteogenesis	9.5	SLC26A2 COL9A3 COL9A2 COL9A1
29	spondyloepiphyseal dysplasia congenita	9.4	MATN3 COMP COL9A3 COL9A1
30	scleredema adultorum	9.4	MATN4 MATN3 MATN1
31	otospondylomegaepiphyseal dysplasia, autosomal recessive	9.4	COMP COL9A3 COL9A2 COL9A1
32	synovitis	9.4	MATN1 COMP
33	spondyloepiphyseal dysplasia with congenital joint dislocations	9.3	SLC26A2 COMP COL9A2 COL9A1
34	hypochondrogenesis	9.3	SLC26A2 MATN3 MATN1 COL9A1
35	epiphyseal dysplasia, multiple, 6	9.2	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
36	osteoarthritis	9.2	MATN3 MATN1 COMP COL9A1
37	epiphyseal dysplasia, multiple, 3	9.2	SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
38	multiple epiphyseal dysplasia, autosomal dominant	9.2	MATN3 COMP COL9A3 COL9A2 COL9A1
39	osteochondritis dissecans	9.1	MATN3 COMP COL9A3 COL9A2 COL9A1
40	multiple epiphyseal dysplasia due to collagen 9 anomaly	8.8	SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
41	epiphyseal dysplasia, multiple, 2	8.8	SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
42	epiphyseal dysplasia, multiple, 4	8.8	SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
43	epiphyseal dysplasia, multiple, 1	8.8	SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
44	diastrophic dysplasia	8.8	SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
45	spondyloepimetaphyseal dysplasia, matrilin-3 related	8.8	SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
46	bone development disease	8.8	SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
47	pseudoachondroplasia	8.4	SLC26A2 MATN3 MATN1 COMP COL9A3 COL9A2
48	achondrogenesis	7.7	SLC26A2 MATN4 MATN3 MATN1 COMP COL9A3
49	odontochondrodysplasia	7.7	SLC26A2 MATN4 MATN3 MATN1 COMP COL9A3

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 5:

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Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 5

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

⁵⁸ ³¹ (show all 21)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	epiphyseal dysplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002656
2	osteoarthritis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002758
3	hip dysplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001385
4	joint stiffness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001387
5	gait disturbance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001288
6	arthralgia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002829
7	genu valgum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002857
8	genu varum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002970
9	coxa vara ³¹			HP:0002812
10	limitation of joint mobility ⁵⁸		Frequent (79-30%)
11	multiple epiphyseal dysplasia ³¹			HP:0002654
12	irregular epiphyses ³¹			HP:0010582
13	broad femoral neck ³¹			HP:0006429
14	short femoral neck ³¹			HP:0100864
15	metaphyseal irregularity ³¹			HP:0003025
16	hypoplasia of the capital femoral epiphysis ³¹			HP:0003090
17	small epiphyses ³¹			HP:0010585
18	arthralgia of the hip ³¹			HP:0003365
19	delayed ossification of carpal bones ³¹			HP:0001216
20	premature osteoarthritis ³¹			HP:0003088
21	delayed tarsal ossification ³¹			HP:0008103

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Pelvis:
coxa vara
broad, short femoral neck
small proximal femoral epiphyses
arthralgia (hip)
high greater trochanter

Skeletal Feet:
delayed tarsal ossification

Skeletal Limbs:
genua valga
small, irregular epiphyses (distal femoral, proximal tibiae, distal radii, distal ulnae)
mild metaphyseal irregularities (distal femoral, proximal tibiae, proximal humeri, distal radii, distal ulnae)
arthralgias (knees)
submetaphyseal vertical striations

Skeletal:
multiple epiphyseal dysplasia
early onset osteoarthritis

Growth Height:
normal stature

Skeletal Hands:
delayed carpal ossification
small, irregular epiphyses (first metacarpal)

Clinical features from OMIM:

607078

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 5:

hip pain, knee pain

GenomeRNAi Phenotypes related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased gamma-H2AX phosphorylation	GR00053-A	9.02	COL9A1 COL9A2 COL9A3 COMP MATN4

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.35	COL9A1 COL9A2 COMP MATN3 SLC26A2
2	skeleton	MP:0005390	9.1	COL9A1 COL9A2 COMP MATN1 MATN3 SLC26A2

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Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 5

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 5

Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 5

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Genetic Tests for Epiphyseal Dysplasia, Multiple, 5

Genetic tests related to Epiphyseal Dysplasia, Multiple, 5:

#	Genetic test	Affiliating Genes
1	Multiple Epiphyseal Dysplasia Type 5 ²⁹	MATN3

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Anatomical Context for Epiphyseal Dysplasia, Multiple, 5

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 5:

⁴⁰

Bone

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Publications for Epiphyseal Dysplasia, Multiple, 5

Articles related to Epiphyseal Dysplasia, Multiple, 5:

#	Title	Authors	PMID	Year
1	Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. ⁶¹ ⁵⁶ ⁶	Chapman KL...Briggs MD	11479597	2001
2	Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia. ⁶ ⁵⁶	Maeda K...Ikegawa S	15948199	2005
3	Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. ⁵⁶ ⁶	Jackson GC...Briggs MD	14729835	2004
4	Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. ⁶ ⁵⁶	Mostert AK...Lindhout D	12884427	2003
5	Bilateral hereditary micro-epiphysial dysplasia of the hips. ⁵⁶ ⁶	ELSBACH L	13849708	1959
6	Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. ⁵⁶	Makitie O...Cole WG	14994237	2004
7	Multiple Epiphyseal Dysplasia, Autosomal Dominant ⁶	Briggs MD...Mortier GR	20301302	2003
8	Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. ⁵⁶	Mortier GR...Briggs MD	11528506	2001
9	XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease. ⁶¹	Pirog KA...Briggs MD	31260448	2019

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Genes for Epiphyseal Dysplasia, Multiple, 5

Genes related to Epiphyseal Dysplasia, Multiple, 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MATN3	Matrilin 3	Protein Coding	1658.36	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵	15948199 14729835 20301302 (more) 12884427 13849708 11479597
2	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	7.49	DISEASES inferred ¹⁵
3	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	7.39	DISEASES inferred ¹⁵
4	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	7.2	DISEASES inferred ¹⁵
5	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	7.18	DISEASES inferred ¹⁵
6	MATN1	Matrilin 1	Protein Coding	6.84	DISEASES inferred ¹⁵
7	MATN4	Matrilin 4	Protein Coding	6.79	DISEASES inferred ¹⁵
8	COMP	Cartilage Oligomeric Matrix Protein	Protein Coding	6.5	DISEASES inferred ¹⁵

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Variations for Epiphyseal Dysplasia, Multiple, 5

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

⁶ (show top 50) (show all 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MATN3	NM_002381.5(MATN3):c.581T>A (p.Val194Asp)	SNV	Pathogenic	7540	rs104893645	2:20205714-20205714	2:20005953-20005953
2	MATN3	NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)	SNV	Pathogenic	7541	rs104893637	2:20205934-20205934	2:20006173-20006173
3	MATN3	NM_002381.5(MATN3):c.656C>A (p.Ala219Asp)	SNV	Pathogenic	7543	rs28939677	2:20205639-20205639	2:20005878-20005878
4	MATN3	NM_002381.5(MATN3):c.382G>C (p.Ala128Pro)	SNV	Pathogenic	7546	rs104893641	2:20205913-20205913	2:20006152-20006152
5	MATN3	NM_002381.5(MATN3):c.359C>T (p.Thr120Met)	SNV	Pathogenic	65664	rs397515546	2:20205936-20205936	2:20006175-20006175
6	MATN3		duplication	Likely pathogenic	560181		2:20199299-20208224
7	MATN3	NM_002381.5(MATN3):c.223+8C>A	SNV	Conflicting interpretations of pathogenicity	720237		2:20212162-20212162	2:20012401-20012401
8	MATN3	NM_002381.5(MATN3):c.90C>T (p.Pro30=)	SNV	Conflicting interpretations of pathogenicity	739482		2:20212303-20212303	2:20012542-20012542
9	MATN3	NM_002381.5(MATN3):c.792G>A (p.Ala264=)	SNV	Conflicting interpretations of pathogenicity	196341	rs201563567	2:20203046-20203046	2:20003285-20003285
10	MATN3	NM_002381.5(MATN3):c.330C>T (p.Ile110=)	SNV	Conflicting interpretations of pathogenicity	333427	rs201755444	2:20205965-20205965	2:20006204-20006204
11	MATN3	NM_002381.5(MATN3):c.664G>A (p.Val222Met)	SNV	Conflicting interpretations of pathogenicity	333423	rs753889985	2:20205631-20205631	2:20005870-20005870
12	MATN3	NM_002381.5(MATN3):c.671G>A (p.Arg224Gln)	SNV	Uncertain significance	333422	rs201491595	2:20205624-20205624	2:20005863-20005863
13	MATN3	NM_002381.5(MATN3):c.*660G>A	SNV	Uncertain significance	333409	rs766531074	2:20192212-20192212	2:19992451-19992451
14	MATN3	NM_002381.5(MATN3):c.832G>A (p.Val278Ile)	SNV	Uncertain significance	499445	rs149976914	2:20203006-20203006	2:20003245-20003245
15	MATN3	NM_002381.5(MATN3):c.*44C>G	SNV	Uncertain significance	333411	rs751281546	2:20192828-20192828	2:19993067-19993067
16	MATN3	NM_002381.5(MATN3):c.659T>C (p.Val220Ala)	SNV	Uncertain significance	801652		2:20205636-20205636	2:20005875-20005875
17	MATN3	NM_002381.5(MATN3):c.*1044A>C	SNV	Uncertain significance	897159		2:20191828-20191828	2:19992067-19992067
18	MATN3	NM_002381.5(MATN3):c.*996A>G	SNV	Uncertain significance	897160		2:20191876-20191876	2:19992115-19992115
19	MATN3	NM_002381.5(MATN3):c.*989C>G	SNV	Uncertain significance	897161		2:20191883-20191883	2:19992122-19992122
20	MATN3	NM_002381.5(MATN3):c.*955G>A	SNV	Uncertain significance	897162		2:20191917-20191917	2:19992156-19992156
21	MATN3	NM_002381.5(MATN3):c.*749T>G	SNV	Uncertain significance	897164		2:20192123-20192123	2:19992362-19992362
22	MATN3	NM_002381.5(MATN3):c.*312T>A	SNV	Uncertain significance	897165		2:20192560-20192560	2:19992799-19992799
23	MATN3	NM_002381.5(MATN3):c.*211A>C	SNV	Uncertain significance	898326		2:20192661-20192661	2:19992900-19992900
24	MATN3	NM_002381.5(MATN3):c.*152A>T	SNV	Uncertain significance	898327		2:20192720-20192720	2:19992959-19992959
25	MATN3	NM_002381.5(MATN3):c.*74G>A	SNV	Uncertain significance	898328		2:20192798-20192798	2:19993037-19993037
26	MATN3	NM_002381.5(MATN3):c.1114C>A (p.His372Asn)	SNV	Uncertain significance	895348		2:20200256-20200256	2:20000495-20000495
27	MATN3	NM_002381.5(MATN3):c.1085T>C (p.Ile362Thr)	SNV	Uncertain significance	895349		2:20200285-20200285	2:20000524-20000524
28	MATN3	NM_002381.5(MATN3):c.1065T>C (p.Gly355=)	SNV	Uncertain significance	895350		2:20200305-20200305	2:20000544-20000544
29	MATN3	NM_002381.5(MATN3):c.906A>G (p.Lys302=)	SNV	Uncertain significance	896760		2:20202932-20202932	2:20003171-20003171
30	MATN3	NM_002381.5(MATN3):c.822G>A (p.Gln274=)	SNV	Uncertain significance	896761		2:20203016-20203016	2:20003255-20003255
31	MATN3	NM_002381.5(MATN3):c.762T>G (p.Leu254=)	SNV	Uncertain significance	898413		2:20205533-20205533	2:20005772-20005772
32	MATN3	NM_002381.5(MATN3):c.526G>T (p.Val176Leu)	SNV	Uncertain significance	593099	rs200762092	2:20205769-20205769	2:20006008-20006008
33	MATN3	NM_002381.5(MATN3):c.541C>T (p.Arg181Ter)	SNV	Uncertain significance	631839	rs201329777	2:20205754-20205754	2:20005993-20005993
34	MATN3	NM_002381.5(MATN3):c.524C>A (p.Thr175Lys)	SNV	Uncertain significance	895422		2:20205771-20205771	2:20006010-20006010
35	MATN3	NM_002381.5(MATN3):c.523A>C (p.Thr175Pro)	SNV	Uncertain significance	895423		2:20205772-20205772	2:20006011-20006011
36	MATN3	NM_002381.5(MATN3):c.514G>A (p.Glu172Lys)	SNV	Uncertain significance	896817		2:20205781-20205781	2:20006020-20006020
37	MATN3	NM_002381.5(MATN3):c.477C>G (p.Gly159=)	SNV	Uncertain significance	896818		2:20205818-20205818	2:20006057-20006057
38	MATN3	NM_002381.5(MATN3):c.304G>T (p.Val102Leu)	SNV	Uncertain significance	896819		2:20205991-20205991	2:20006230-20006230
39	MATN3	NM_002381.5(MATN3):c.209G>A (p.Arg70His)	SNV	Uncertain significance	7545	rs104893640	2:20212184-20212184	2:20012423-20012423
40	MATN3	NM_002381.5(MATN3):c.197G>C (p.Ser66Thr)	SNV	Uncertain significance	898673		2:20212196-20212196	2:20012435-20012435
41	MATN3	NM_002381.5(MATN3):c.185C>T (p.Ala62Val)	SNV	Uncertain significance	898674		2:20212208-20212208	2:20012447-20012447
42	MATN3	NM_002381.5(MATN3):c.180G>T (p.Ala60=)	SNV	Uncertain significance	898675		2:20212213-20212213	2:20012452-20012452
43	MATN3	NM_002381.5(MATN3):c.160C>A (p.Pro54Thr)	SNV	Uncertain significance	898676		2:20212233-20212233	2:20012472-20012472
44	MATN3	NM_002381.5(MATN3):c.150C>T (p.Arg50=)	SNV	Uncertain significance	898677		2:20212243-20212243	2:20012482-20012482
45	MATN3	NM_002381.5(MATN3):c.1406-8C>T	SNV	Uncertain significance	898329		2:20192935-20192935	2:19993174-19993174
46	MATN3	NM_002381.5(MATN3):c.275G>A (p.Arg92His)	SNV	Likely benign	897313		2:20206020-20206020	2:20006259-20006259
47	MATN3	NM_002381.5(MATN3):c.945C>T (p.His315=)	SNV	Likely benign	709045		2:20201813-20201813	2:20002052-20002052
48	MATN3	NM_002381.5(MATN3):c.733G>A (p.Val245Met)	SNV	Likely benign	898414		2:20205562-20205562	2:20005801-20005801
49	MATN3	NM_002381.5(MATN3):c.349C>T (p.Pro117Ser)	SNV	Likely benign	333426	rs563628955	2:20205946-20205946	2:20006185-20006185
50	MATN3	NM_002381.5(MATN3):c.279C>T (p.Ser93=)	SNV	Likely benign	333428	rs370980605	2:20206016-20206016	2:20006255-20006255

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

⁷³ (show all 15)

#	Symbol	AA change	Variation ID	SNP ID
1	MATN3	p.Arg121Trp	VAR_013691	rs104893637
2	MATN3	p.Val194Asp	VAR_013692	rs104893645
3	MATN3	p.Thr120Met	VAR_019882	rs397515546
4	MATN3	p.Ala128Pro	VAR_019883	rs104893641
5	MATN3	p.Glu134Lys	VAR_019884
6	MATN3	p.Ile192Asn	VAR_019885
7	MATN3	p.Ala219Asp	VAR_019886	rs28939677
8	MATN3	p.Phe105Ser	VAR_020844
9	MATN3	p.Arg70His	VAR_054807	rs104893640
10	MATN3	p.Thr195Lys	VAR_054808
11	MATN3	p.Tyr218Asn	VAR_054809
12	MATN3	p.Ala173Asp	VAR_066831	rs779413744
13	MATN3	p.Arg209Pro	VAR_066832	rs749845872
14	MATN3	p.Lys231Asn	VAR_066833	rs773642745
15	MATN3	p.Val245Met	VAR_066834	rs182164052

Sources

Expression for Epiphyseal Dysplasia, Multiple, 5

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 5.

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Pathways for Epiphyseal Dysplasia, Multiple, 5

Pathways related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	12.5	COMP COL9A3 COL9A2 COL9A1
2	Focal Adhesion ³⁶ ¹ Show member pathways HGF Pathway ⁶³ Integrin-mediated Cell Adhesion ¹	12.39	COMP COL9A3 COL9A2 COL9A1
3	Collagen chain trimerization ⁶⁵ Show member pathways Anchoring fibril formation ⁶⁵ Assembly of collagen fibrils and other multimeric structures ⁶⁵ Blood Coagulation Cascade ⁶³ Collagen biosynthesis and modifying enzymes ⁶⁵ Collagen formation ⁶⁵ Crosslinking of collagen fibrils ⁶⁵ Intrinsic Prothrombin Activation Pathway ⁶³ Protein digestion and absorption ³⁶	12.36	COL9A3 COL9A2 COL9A1
4	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	12.15	MATN4 MATN3 MATN1 COMP COL9A3 COL9A2
5	ECM-receptor interaction ³⁶ Show member pathways Integrin cell surface interactions ⁶⁵	11.65	COMP COL9A3 COL9A2 COL9A1
6	NCAM1 interactions ⁶⁵	11	COL9A3 COL9A2 COL9A1
7	Articular Cartilage Extracellular Matrix ⁶⁴	10.99	MATN4 COMP
8	Gastric Cancer Network 2 ¹	10.92	COL9A3 COL9A1
9	ECM proteoglycans ⁶⁵	10.92	MATN4 MATN3 MATN1 COMP COL9A3 COL9A2

Sources

GO Terms for Epiphyseal Dysplasia, Multiple, 5

Cellular components related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.87	MATN4 MATN3 MATN1 COMP COL9A3 COL9A2
2	extracellular space	GO:0005615	9.8	MATN4 MATN3 MATN1 COMP COL9A3 COL9A2
3	endoplasmic reticulum lumen	GO:0005788	9.67	MATN3 COL9A3 COL9A2 COL9A1
4	collagen trimer	GO:0005581	9.58	COL9A3 COL9A2 COL9A1
5	collagen-containing extracellular matrix	GO:0062023	9.5	MATN4 MATN3 MATN1 COMP COL9A3 COL9A2
6	collagen type IX trimer	GO:0005594	9.33	COL9A3 COL9A2 COL9A1
7	extracellular matrix	GO:0031012	9.17	MATN4 MATN3 MATN1 COMP COL9A3 COL9A2

Biological processes related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ossification	GO:0001503	9.37	SLC26A2 COMP
2	skeletal system development	GO:0001501	9.33	MATN3 COMP COL9A2
3	cartilage development	GO:0051216	9.32	MATN3 COMP
4	regulation of bone mineralization	GO:0030500	9.26	MATN1 COMP
5	extracellular matrix organization	GO:0030198	9.17	MATN4 MATN3 MATN1 COMP COL9A3 COL9A2
6	growth plate cartilage chondrocyte morphogenesis	GO:0003429	9.13	MATN4 MATN3 MATN1

Molecular functions related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium ion binding	GO:0005509	9.46	MATN4 MATN3 MATN1 COMP
2	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.13	COL9A3 COL9A2 COL9A1
3	extracellular matrix structural constituent	GO:0005201	9.1	MATN3 MATN1 COMP COL9A3 COL9A2 COL9A1

Sources

Sources for Epiphyseal Dysplasia, Multiple, 5

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Epiphyseal Dysplasia, Multiple, 5 (EDM5)

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 5

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 5:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Epiphyseal Dysplasia, Multiple, 5

Related Diseases for Epiphyseal Dysplasia, Multiple, 5

Diseases in the Multiple Epiphyseal Dysplasia family:

Diseases related to Epiphyseal Dysplasia, Multiple, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 5:

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 5

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

Symptoms via clinical synopsis from OMIM:

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UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 5:

GenomeRNAi Phenotypes related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

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Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 5

Genetic Tests for Epiphyseal Dysplasia, Multiple, 5

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Anatomical Context for Epiphyseal Dysplasia, Multiple, 5

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Genes related to Epiphyseal Dysplasia, Multiple, 5 (1 elite genes):

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ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

Expression for Epiphyseal Dysplasia, Multiple, 5

Pathways for Epiphyseal Dysplasia, Multiple, 5

Pathways related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

GO Terms for Epiphyseal Dysplasia, Multiple, 5

Cellular components related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

Biological processes related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

Molecular functions related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

Sources for Epiphyseal Dysplasia, Multiple, 5