EDM5
MCID: EPP013
MIFTS: 46

Epiphyseal Dysplasia, Multiple, 5 (EDM5)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 5

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 5:

Name: Epiphyseal Dysplasia, Multiple, 5 57 12 43 71
Edm5 57 11 19 58 73
Multiple Epiphyseal Dysplasia 5 11 19 73 14
Multiple Epiphyseal Dysplasia Type 5 58 28 5
Bhmed 57 11 58
Microepiphyseal Dysplasia, Bilateral Hereditary 57
Bilateral Hereditary Micro-Epiphyseal Dysplasia 58
Bilateral Hereditary Microepiphyseal Dysplasia 11
Multiple Epiphyseal Dysplasia, Matn3-Related 57
Multiple Epiphyseal Dysplasia, Matn3 Related 19
Multiple Epiphyseal Dysplasia Matn3-Related 11
Dysplasia, Epiphyseal, Multiple, Type 5 38
Epiphyseal Dysplasia Multiple 5 19
Polyepiphyseal Dysplasia Type 5 58
Med5 58

Characteristics:


Inheritance:

Epiphyseal Dysplasia, Multiple, 5: Autosomal dominant 57
Multiple Epiphyseal Dysplasia Type 5: Autosomal dominant 58

Prevelance:

Multiple Epiphyseal Dysplasia Type 5: <1/1000000 (Worldwide) 58

Age Of Onset:

Multiple Epiphyseal Dysplasia Type 5: Childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
genetic heterogeneity (see edm1 )
allelic to spondyloepimetaphyseal dysplasia, matn-3 related
allelic to hand osteoarthritis


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0070299
OMIM® 57 607078
OMIM Phenotypic Series 57 PS132400
MESH via Orphanet 44 C535505
ICD10 via Orphanet 32 Q77.3
UMLS via Orphanet 72 C1846843
Orphanet 58 ORPHA93311
MedGen 40 C1846843
UMLS 71 C1846843

Summaries for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot: 73 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 osteochondrodysplasia, 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 Extracellular matrix organization. Affiliated tissues include bone, and related phenotypes are hip dysplasia and delayed proximal femoral epiphyseal ossification

GARD: 19 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.

Orphanet: 58 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.

Disease Ontology: 11 A multiple epiphyseal dysplasia that has material basis in heterozygous mutation in the MATN3 gene on chromosome 2p24.

More information from OMIM: 607078 PS132400

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 45)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 30.4 SLC26A2 PDIA4 MATN3 CRELD2 COMP COL9A3
2 osteochondrodysplasia 29.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
3 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type 10.2 WDR35-DT MATN3
4 spondylolisthesis 10.1 COL9A3 COL9A2
5 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.1 COL9A2 COL9A1
6 intervertebral disc disease 10.1 COL9A3 COL9A2
7 bone deterioration disease 10.0 COL9A3 COL9A2
8 autosomal recessive stickler syndrome 10.0 COL9A3 COL9A2 COL9A1
9 fibrochondrogenesis 1 10.0 COL9A3 COL9A2 COL9A1
10 fibrochondrogenesis 10.0 COL9A3 COL9A2 COL9A1
11 vitreous syneresis 10.0 COL9A3 COL9A2 COL9A1
12 nijmegen breakage syndrome 10.0
13 med23 10.0
14 retinal perforation 10.0 COL9A3 COL9A2 COL9A1
15 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.0 COL9A3 COL9A2 COL9A1
16 spinal stenosis 10.0 COL9A3 COL9A2 COL9A1
17 retinal detachment 9.9 COL9A3 COL9A2 COL9A1
18 campomelic dysplasia 9.9 COL9A2 COL9A1
19 marshall syndrome 9.9 MATN3 COL9A3 COL9A2 COL9A1
20 stickler syndrome 9.9 MATN3 COL9A3 COL9A2 COL9A1
21 orofacial cleft 9.9 SLC26A2 COL9A2 COL9A1
22 bone structure disease 9.8 COL9A3 COL9A2
23 spondyloperipheral dysplasia 9.8 CRELD2 COL9A2 COL9A1
24 atelosteogenesis 9.8 SLC26A2 COL9A3 COL9A2 COL9A1
25 treacher collins syndrome 1 9.8 MATN3 COL9A3 COL9A2 COL9A1
26 achondrogenesis, type ii 9.8 SLC26A2 MATN3 COMP COL9A1
27 spondyloepimetaphyseal dysplasia, strudwick type 9.8 COMP COL9A3 COL9A2 COL9A1
28 epiphyseal dysplasia, multiple, 6 9.7 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
29 epiphyseal dysplasia, multiple, 2 9.7 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
30 achondrogenesis, type ib 9.7 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
31 osteochondrosis 9.7 MATN3 COMP COL9A3 COL9A2 COL9A1
32 osteochondritis dissecans 9.7 MATN3 COMP COL9A3 COL9A2 COL9A1
33 osteoarthritis 9.6 MATN3 COMP COL9A3 COL9A2 COL9A1
34 kniest dysplasia 9.6 SLC26A2 COMP COL9A3 COL9A2 COL9A1
35 spondyloepiphyseal dysplasia with congenital joint dislocations 9.6 SLC26A2 COMP COL9A3 COL9A2 COL9A1
36 connective tissue disease 9.6 SLC26A2 COMP COL9A3 COL9A1
37 hypochondrogenesis 9.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
38 epiphyseal dysplasia, multiple, 4 9.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
39 epiphyseal dysplasia, multiple, 1 9.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
40 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
41 achondrogenesis 9.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
42 spondyloepiphyseal dysplasia congenita 9.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
43 diastrophic dysplasia 9.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
44 pseudoachondroplasia 9.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
45 bone development disease 9.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1

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



Diseases related to Epiphyseal Dysplasia, Multiple, 5

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 5

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

58 30 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hip dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001385
2 delayed proximal femoral epiphyseal ossification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008828
3 genu valgum 58 30 Very rare (1%) Frequent (79-30%)
HP:0002857
4 genu varum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002970
5 mild short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0003502
6 knee pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0030839
7 premature osteoarthritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0003088
8 abnormality of upper limb epiphysis morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0003839
9 abnormality of the epiphyses of the feet 58 30 Frequent (33%) Frequent (79-30%)
HP:0010631
10 joint stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001387
11 difficulty walking 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002355
12 avascular necrosis of the capital femoral epiphysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005743
13 osteoarthritis of the small joints of the hand 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004268
14 intervertebral disc degeneration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008419
15 decreased hip abduction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003184
16 arthralgia of the hip 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003365
17 ankle pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030840
18 multiple small vertebral fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005877
19 abnormal acetabulum morphology 30 Occasional (7.5%) HP:0003170
20 back pain 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003418
21 short stature 30 Very rare (1%) HP:0004322
22 coxa vara 30 Very rare (1%) HP:0002812
23 short metacarpal 30 Very rare (1%) HP:0010049
24 hip pain 30 Very rare (1%) HP:0030838
25 short femoral neck 30 Very rare (1%) HP:0100864
26 gait disturbance 58 Frequent (79-30%)
27 epiphyseal dysplasia 30 HP:0002656
28 arthralgia 30 HP:0002829
29 multiple epiphyseal dysplasia 30 HP:0002654
30 irregular epiphyses 30 HP:0010582
31 broad femoral neck 30 HP:0006429
32 metaphyseal irregularity 30 HP:0003025
33 abnormality of the acetabulum 58 Occasional (29-5%)
34 hypoplasia of the capital femoral epiphysis 30 HP:0003090
35 small epiphyses 30 HP:0010585
36 limited hip movement 58 Occasional (29-5%)
37 delayed ossification of carpal bones 30 HP:0001216
38 abnormality of the hip joint 58 Frequent (79-30%)
39 delayed tarsal ossification 30 HP:0008103

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.1 COL9A1 COL9A2 COL9A3 COMP CRLF3 KAZALD1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 COL9A1 COL9A2 COMP MATN3 SLC26A2

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

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 28 MATN3

Anatomical Context for Epiphyseal Dysplasia, Multiple, 5

Organs/tissues related to Epiphyseal Dysplasia, Multiple, 5:

MalaCards : Bone

Publications for Epiphyseal Dysplasia, Multiple, 5

Articles related to Epiphyseal Dysplasia, Multiple, 5:

(show all 28)
# Title Authors PMID Year
1
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 62 57 5
12884427 2003
2
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. 62 57 5
11479597 2001
3
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. 57 5
30080953 2018
4
Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia. 57 5
15948199 2005
5
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 57 5
14729835 2004
6
Bilateral hereditary micro-epiphysial dysplasia of the hips. 57 5
13849708 1959
7
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia. 5
31724101 2020
8
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 5
16287128 2005
9
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. 57
14994237 2004
10
Multiple Epiphyseal Dysplasia, Autosomal Dominant 5
20301302 2003
11
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. 57
11528506 2001
12
Glucosinolate and phenylpropanoid biosynthesis are linked by proteasome-dependent degradation of PAL. 62
31408530 2020
13
Mediator function in plant metabolism revealed by large-scale biology. 62
31504746 2019
14
Mutation of Mediator subunit CDK8 counteracts the stunted growth and salicylic acid hyperaccumulation phenotypes of an Arabidopsis MED5 mutant. 62
30756399 2019
15
XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease. 62
31260448 2019
16
Mediator Complex Subunits MED2, MED5, MED16, and MED23 Genetically Interact in the Regulation of Phenylpropanoid Biosynthesis. 62
29203634 2017
17
Functional studies of the yeast med5, med15 and med16 mediator tail subunits. 62
23991176 2013
18
Med5(Nut1) and Med17(Srb4) are direct targets of mediator histone H4 tail interactions. 62
22693636 2012
19
The Mediator complex in plants: structure, phylogeny, and expression profiling of representative genes in a dicot (Arabidopsis) and a monocot (rice) during reproduction and abiotic stress. 62
22021418 2011
20
Mediator influences telomeric silencing and cellular life span. 62
21482672 2011
21
Validation and clinical application of an LC-ESI-MS/MS method for simultaneous determination of tolmetin and MED5, the metabolites of amtolmetin guacil in human plasma. 62
20853464 2010
22
Species difference in the in vitro and in vivo metabolism of amtolmetin guacil. 62
21175039 2010
23
Comparative genomics supports a deep evolutionary origin for the large, four-module transcriptional mediator complex. 62
18515835 2008
24
A functional module of yeast mediator that governs the dynamic range of heat-shock gene expression. 62
16452140 2006
25
The structural and functional role of Med5 in the yeast Mediator tail module. 62
16230344 2005
26
Matrilin-3 is dispensable for mouse skeletal growth and development. 62
14749384 2004
27
[Radiologische Besonderheiten einer bilateral vererblichen Mikro-Epiphysendysplasie - deutliche Entit├Ąt einer Skelettdysplasie]. 62
12101480 2002
28
Bilateral hereditary micro-epiphyseal dysplasia: further delineation of the phenotype with 40 years follow-up. 62
12073115 2002

Variations for Epiphyseal Dysplasia, Multiple, 5

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

5 (show top 50) (show all 67)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MATN3 NM_002381.5(MATN3):c.382G>C (p.Ala128Pro) SNV Pathogenic
7546 rs104893641 GRCh37: 2:20205913-20205913
GRCh38: 2:20006152-20006152
2 MATN3 and overlap with 1 gene(s) NC_000002.12:g.19998776_20009244dup DUP Pathogenic
1299496 GRCh37:
GRCh38: 2:19998776-20009244
3 MATN3 NM_002381.5(MATN3):c.581T>A (p.Val194Asp) SNV Pathogenic
7540 rs104893645 GRCh37: 2:20205714-20205714
GRCh38: 2:20005953-20005953
4 MATN3 NM_002381.5(MATN3):c.656C>A (p.Ala219Asp) SNV Pathogenic
7543 rs28939677 GRCh37: 2:20205639-20205639
GRCh38: 2:20005878-20005878
5 MATN3 NM_002381.5(MATN3):c.359C>T (p.Thr120Met) SNV Pathogenic
65664 rs397515546 GRCh37: 2:20205936-20205936
GRCh38: 2:20006175-20006175
6 MATN3 NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) SNV Likely Pathogenic
7541 rs104893637 GRCh37: 2:20205934-20205934
GRCh38: 2:20006173-20006173
7 MATN3 NM_002381.5(MATN3):c.368C>T (p.Ala123Val) SNV Likely Pathogenic
1683458 GRCh37: 2:20205927-20205927
GRCh38: 2:20006166-20006166
8 WDR35-DT, MATN3 NM_002381.5(MATN3):c.224-2153_1168+903dup DUP Likely Pathogenic
560181 GRCh37: 2:20199298-20199299
GRCh38: 2:19999537-19999538
9 MATN3 NM_002381.5(MATN3):c.541C>T (p.Arg181Ter) SNV Uncertain Significance
631839 rs201329777 GRCh37: 2:20205754-20205754
GRCh38: 2:20005993-20005993
10 WDR35-DT, MATN3 NM_002381.5(MATN3):c.1114C>A (p.His372Asn) SNV Uncertain Significance
895348 rs747623605 GRCh37: 2:20200256-20200256
GRCh38: 2:20000495-20000495
11 WDR35-DT, MATN3 NM_002381.5(MATN3):c.1085T>C (p.Ile362Thr) SNV Uncertain Significance
895349 rs774005769 GRCh37: 2:20200285-20200285
GRCh38: 2:20000524-20000524
12 MATN3 NM_002381.5(MATN3):c.524C>A (p.Thr175Lys) SNV Uncertain Significance
895422 rs1673097664 GRCh37: 2:20205771-20205771
GRCh38: 2:20006010-20006010
13 WDR35-DT, MATN3 NM_002381.5(MATN3):c.906A>G (p.Lys302=) SNV Uncertain Significance
896760 rs1673021913 GRCh37: 2:20202932-20202932
GRCh38: 2:20003171-20003171
14 WDR35-DT, MATN3 NM_002381.5(MATN3):c.832G>A (p.Val278Ile) SNV Uncertain Significance
499445 rs149976914 GRCh37: 2:20203006-20203006
GRCh38: 2:20003245-20003245
15 WDR35-DT, MATN3 NM_002381.5(MATN3):c.822G>A (p.Gln274=) SNV Uncertain Significance
896761 rs1401043626 GRCh37: 2:20203016-20203016
GRCh38: 2:20003255-20003255
16 MATN3 NM_002381.5(MATN3):c.514G>A (p.Glu172Lys) SNV Uncertain Significance
896817 rs977737529 GRCh37: 2:20205781-20205781
GRCh38: 2:20006020-20006020
17 MATN3 NM_002381.5(MATN3):c.477C>G (p.Gly159=) SNV Uncertain Significance
896818 rs1673099589 GRCh37: 2:20205818-20205818
GRCh38: 2:20006057-20006057
18 WDR35-DT, MATN3 NM_002381.5(MATN3):c.*1044A>C SNV Uncertain Significance
897159 rs901185703 GRCh37: 2:20191828-20191828
GRCh38: 2:19992067-19992067
19 WDR35-DT, MATN3 NM_002381.5(MATN3):c.*996A>G SNV Uncertain Significance
897160 rs1333953203 GRCh37: 2:20191876-20191876
GRCh38: 2:19992115-19992115
20 WDR35-DT, MATN3 NM_002381.5(MATN3):c.*989C>G SNV Uncertain Significance
897161 rs1672769474 GRCh37: 2:20191883-20191883
GRCh38: 2:19992122-19992122
21 WDR35-DT, MATN3 NM_002381.5(MATN3):c.*955G>A SNV Uncertain Significance
897162 rs1378496398 GRCh37: 2:20191917-20191917
GRCh38: 2:19992156-19992156
22 WDR35-DT, MATN3 NM_002381.5(MATN3):c.*660G>A SNV Uncertain Significance
333409 rs766531074 GRCh37: 2:20192212-20192212
GRCh38: 2:19992451-19992451
23 WDR35-DT, MATN3 NM_002381.5(MATN3):c.*749T>G SNV Uncertain Significance
897164 rs1169276721 GRCh37: 2:20192123-20192123
GRCh38: 2:19992362-19992362
24 WDR35-DT, MATN3 NM_002381.5(MATN3):c.*312T>A SNV Uncertain Significance
897165 rs1301097731 GRCh37: 2:20192560-20192560
GRCh38: 2:19992799-19992799
25 WDR35-DT, MATN3 NM_002381.5(MATN3):c.*152A>T SNV Uncertain Significance
898327 rs1188181385 GRCh37: 2:20192720-20192720
GRCh38: 2:19992959-19992959
26 WDR35-DT, MATN3 NM_002381.5(MATN3):c.*74G>A SNV Uncertain Significance
898328 rs1483047682 GRCh37: 2:20192798-20192798
GRCh38: 2:19993037-19993037
27 WDR35-DT, MATN3 NM_002381.5(MATN3):c.1406-8C>T SNV Uncertain Significance
898329 rs778345843 GRCh37: 2:20192935-20192935
GRCh38: 2:19993174-19993174
28 MATN3 NM_002381.5(MATN3):c.762T>G (p.Leu254=) SNV Uncertain Significance
898413 rs1673088254 GRCh37: 2:20205533-20205533
GRCh38: 2:20005772-20005772
29 WDR35-DT, MATN3 NM_002381.5(MATN3):c.*44C>G SNV Uncertain Significance
333411 rs751281546 GRCh37: 2:20192828-20192828
GRCh38: 2:19993067-19993067
30 WDR35-DT, MATN3 NM_002381.5(MATN3):c.1065T>C (p.Gly355=) SNV Uncertain Significance
895350 rs745766346 GRCh37: 2:20200305-20200305
GRCh38: 2:20000544-20000544
31 MATN3 NM_002381.5(MATN3):c.523A>C (p.Thr175Pro) SNV Uncertain Significance
895423 rs370381391 GRCh37: 2:20205772-20205772
GRCh38: 2:20006011-20006011
32 MATN3 NM_002381.5(MATN3):c.284G>A (p.Arg95Gln) SNV Uncertain Significance
1329477 GRCh37: 2:20206011-20206011
GRCh38: 2:20006250-20006250
33 WDR35-DT, MATN3 NM_002381.5(MATN3):c.*211A>C SNV Uncertain Significance
898326 rs745939353 GRCh37: 2:20192661-20192661
GRCh38: 2:19992900-19992900
34 MATN3 NM_002381.5(MATN3):c.197G>C (p.Ser66Thr) SNV Uncertain Significance
898673 rs1673236096 GRCh37: 2:20212196-20212196
GRCh38: 2:20012435-20012435
35 MATN3 NM_002381.5(MATN3):c.180G>T (p.Ala60=) SNV Uncertain Significance
898675 rs1286340022 GRCh37: 2:20212213-20212213
GRCh38: 2:20012452-20012452
36 MATN3 NM_002381.5(MATN3):c.160C>A (p.Pro54Thr) SNV Uncertain Significance
898676 rs1008273355 GRCh37: 2:20212233-20212233
GRCh38: 2:20012472-20012472
37 MATN3 NM_002381.5(MATN3):c.150C>T (p.Arg50=) SNV Uncertain Significance
898677 rs1422262650 GRCh37: 2:20212243-20212243
GRCh38: 2:20012482-20012482
38 MATN3 NM_002381.5(MATN3):c.477C>T (p.Gly159=) SNV Uncertain Significance
1228375 GRCh37: 2:20205818-20205818
GRCh38: 2:20006057-20006057
39 MATN3 NM_002381.5(MATN3):c.209G>A (p.Arg70His) SNV Uncertain Significance
7545 rs104893640 GRCh37: 2:20212184-20212184
GRCh38: 2:20012423-20012423
40 MATN3 NM_002381.5(MATN3):c.526G>T (p.Val176Leu) SNV Uncertain Significance
593099 rs200762092 GRCh37: 2:20205769-20205769
GRCh38: 2:20006008-20006008
41 MATN3 NM_002381.5(MATN3):c.659T>C (p.Val220Ala) SNV Uncertain Significance
801652 rs187943382 GRCh37: 2:20205636-20205636
GRCh38: 2:20005875-20005875
42 MATN3 NM_002381.5(MATN3):c.185C>T (p.Ala62Val) SNV Uncertain Significance
898674 rs920755164 GRCh37: 2:20212208-20212208
GRCh38: 2:20012447-20012447
43 MATN3 NM_002381.5(MATN3):c.90C>T (p.Pro30=) SNV Uncertain Significance
739482 rs996766896 GRCh37: 2:20212303-20212303
GRCh38: 2:20012542-20012542
44 MATN3 NM_002381.5(MATN3):c.304G>T (p.Val102Leu) SNV Uncertain Significance
896819 rs199824694 GRCh37: 2:20205991-20205991
GRCh38: 2:20006230-20006230
45 MATN3 NM_002381.5(MATN3):c.223+8C>A SNV Uncertain Significance
720237 rs993108436 GRCh37: 2:20212162-20212162
GRCh38: 2:20012401-20012401
46 MATN3 NM_002381.5(MATN3):c.671G>A (p.Arg224Gln) SNV Uncertain Significance
333422 rs201491595 GRCh37: 2:20205624-20205624
GRCh38: 2:20005863-20005863
47 WDR35-DT, MATN3 NM_002381.5(MATN3):c.945C>T (p.His315=) SNV Likely Benign
709045 rs77146641 GRCh37: 2:20201813-20201813
GRCh38: 2:20002052-20002052
48 MATN3 NM_002381.5(MATN3):c.330C>T (p.Ile110=) SNV Likely Benign
333427 rs201755444 GRCh37: 2:20205965-20205965
GRCh38: 2:20006204-20006204
49 MATN3 NM_002381.5(MATN3):c.664G>A (p.Val222Met) SNV Likely Benign
333423 rs753889985 GRCh37: 2:20205631-20205631
GRCh38: 2:20005870-20005870
50 WDR35-DT, MATN3 NM_002381.5(MATN3):c.1171C>T (p.Arg391Cys) SNV Likely Benign
283828 rs146599945 GRCh37: 2:20197018-20197018
GRCh38: 2:19997257-19997257

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

Expression for Epiphyseal Dysplasia, Multiple, 5

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

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
Show member pathways
12.48 COMP COL9A3 COL9A2 COL9A1
2
Show member pathways
12 MATN3 COMP COL9A3 COL9A2 COL9A1
3
Show member pathways
11.45 COL9A3 COL9A2 COL9A1
4
Show member pathways
11.27 COL9A3 COL9A2 COL9A1
5
Show member pathways
11.24 MATN3 COMP COL9A3 COL9A2 COL9A1
6 10.81 COL9A3 COL9A1

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 space GO:0005615 10.21 PDIA4 OMD CRELD2 COMP COL9A3 COL9A2
2 endoplasmic reticulum lumen GO:0005788 9.96 PDIA4 MATN3 COL9A3 COL9A2 COL9A1
3 collagen-containing extracellular matrix GO:0062023 9.93 COL9A1 COL9A2 COL9A3 COMP MATN3 OMD
4 collagen trimer GO:0005581 9.5 COL9A3 COL9A2 COL9A1
5 collagen type IX trimer GO:0005594 9.43 COL9A3 COL9A2 COL9A1
6 extracellular matrix GO:0031012 9.4 OMD MATN3 KAZALD1 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 skeletal system development GO:0001501 9.73 MATN3 COMP COL9A2
2 regulation of bone mineralization GO:0030500 9.46 OMD COMP
3 ossification GO:0001503 9.35 SLC26A2 KAZALD1 COMP
4 extracellular matrix organization GO:0030198 9.32 MATN3 KAZALD1 COL9A3 COL9A2 COL9A1

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

# Name GO ID Score Top Affiliating Genes
1 protein disulfide isomerase activity GO:0003756 9.46 PDIA4 CRELD2
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.43 COL9A3 COL9A2 COL9A1
3 extracellular matrix structural constituent GO:0005201 9.32 MATN3 COMP COL9A3 COL9A2 COL9A1

Sources for Epiphyseal Dysplasia, Multiple, 5

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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