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EDM5
MCID: EPP013
MIFTS: 44

Epiphyseal Dysplasia, Multiple, 5 (EDM5)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 5

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MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 5:

Name: Epiphyseal Dysplasia, Multiple, 5 57 13 44 71
Edm5 57 12 20 58 73
Multiple Epiphyseal Dysplasia 5 12 20 73 15
Multiple Epiphyseal Dysplasia Type 5 58 29 6
Bhmed 57 12 58
Microepiphyseal Dysplasia, Bilateral Hereditary; Bhmed 57
Microepiphyseal Dysplasia, Bilateral Hereditary 57
Bilateral Hereditary Micro-Epiphyseal Dysplasia 58
Bilateral Hereditary Microepiphyseal Dysplasia 12
Multiple Epiphyseal Dysplasia, Matn3-Related 57
Multiple Epiphyseal Dysplasia, Matn3 Related 20
Multiple Epiphyseal Dysplasia Matn3-Related 12
Dysplasia, Epiphyseal, Multiple, Type 5 39
Epiphyseal Dysplasia Multiple 5 20
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®:

57 (Updated 05-Mar-2021)
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
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070299
OMIM® 57 607078
OMIM Phenotypic Series 57 PS132400
MESH via Orphanet 45 C535505
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 72 C1846843
Orphanet 58 ORPHA93311
MedGen 41 C1846843
UMLS 71 C1846843
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Summaries for Epiphyseal Dysplasia, Multiple, 5

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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. Related phenotypes are hip dysplasia and delayed proximal femoral epiphyseal ossification

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

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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 41)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 30.2 SLC26A2 PDIA4 MATN3 COMP COL9A3 COL9A2
2 dwarfism 10.1
3 legg-calve-perthes disease 10.0 SLC26A2 MATN3
4 bone deterioration disease 10.0 COL9A3 COL9A2
5 intervertebral disc disease 10.0 COL9A3 COL9A2
6 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL9A2 COL9A1
7 med23 10.0
8 bone structure disease 9.9 COL9A3 COL9A2
9 fibrochondrogenesis 9.8 COL9A3 COL9A2 COL9A1
10 autosomal recessive stickler syndrome 9.8 COL9A3 COL9A2 COL9A1
11 vitreous syneresis 9.8 COL9A3 COL9A2 COL9A1
12 kniest dysplasia 9.8 COL9A3 COL9A2 COL9A1
13 campomelic dysplasia 9.8 COL9A2 COL9A1
14 marshall syndrome 9.8 COL9A3 COL9A2 COL9A1
15 spinal stenosis 9.8 COL9A3 COL9A2 COL9A1
16 retinal detachment 9.8 COL9A3 COL9A2 COL9A1
17 otosclerosis 9.8 SLC26A2 MATN3
18 skeletal dysplasias 9.7 SLC26A2 MATN3 COMP
19 fibrochondrogenesis 1 9.7 MATN3 COL9A3 COL9A2 COL9A1
20 osteoarthritis 9.6 MATN3 COMP COL9A1
21 stickler syndrome 9.6 MATN3 COL9A3 COL9A2 COL9A1
22 hypochondrogenesis 9.6 SLC26A2 MATN3 COL9A2 COL9A1
23 atelosteogenesis 9.6 SLC26A2 COL9A3 COL9A2 COL9A1
24 achondrogenesis, type ii 9.5 SLC26A2 MATN3 COMP COL9A1
25 epiphyseal dysplasia, multiple, 6 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
26 epiphyseal dysplasia, multiple, 3 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
27 achondrogenesis, type ib 9.4 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
28 multiple epiphyseal dysplasia, autosomal dominant 9.4 MATN3 COMP COL9A3 COL9A2 COL9A1
29 spondyloepiphyseal dysplasia congenita 9.3 MATN3 COMP COL9A3 COL9A2 COL9A1
30 osteochondrosis 9.3 MATN3 COMP COL9A3 COL9A2 COL9A1
31 osteochondritis dissecans 9.3 MATN3 COMP COL9A3 COL9A2 COL9A1
32 spondyloepiphyseal dysplasia with congenital joint dislocations 9.3 SLC26A2 COMP COL9A3 COL9A2 COL9A1
33 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
34 epiphyseal dysplasia, multiple, 2 9.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
35 epiphyseal dysplasia, multiple, 4 9.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
36 epiphyseal dysplasia, multiple, 1 9.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
37 diastrophic dysplasia 9.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
38 achondrogenesis 9.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
39 pseudoachondroplasia 9.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
40 bone development disease 9.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
41 odontochondrodysplasia 9.1 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
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Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 5

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Human phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 5:


hip pain, knee pain

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.43 COL9A1 COL9A3 COMP MATN3 PDIA4 VWF
2 limbs/digits/tail MP:0005371 9.02 COL9A1 COL9A2 COMP MATN3 SLC26A2
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Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 5

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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

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Genetic tests related to Epiphyseal Dysplasia, Multiple, 5:

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

Anatomical Context for Epiphyseal Dysplasia, Multiple, 5

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Publications for Epiphyseal Dysplasia, Multiple, 5

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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 57 6
11479597 2001
2
Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia. 6 57
15948199 2005
3
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 6 57
14729835 2004
4
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 6 57
12884427 2003
5
Bilateral hereditary micro-epiphysial dysplasia of the hips. 57 6
13849708 1959
6
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. 57
14994237 2004
7
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. 57
11528506 2001
8
XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease. 61
31260448 2019
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Variations for Epiphyseal Dysplasia, Multiple, 5

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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.541C>T (p.Arg181Ter) SNV Uncertain significance 631839 rs201329777 2:20205754-20205754 2:20005993-20005993
8 MATN3 NM_002381.5(MATN3):c.659T>C (p.Val220Ala) SNV Uncertain significance 801652 rs187943382 2:20205636-20205636 2:20005875-20005875
9 MATN3 NM_002381.5(MATN3):c.1114C>A (p.His372Asn) SNV Uncertain significance 895348 2:20200256-20200256 2:20000495-20000495
10 MATN3 NM_002381.5(MATN3):c.1085T>C (p.Ile362Thr) SNV Uncertain significance 895349 2:20200285-20200285 2:20000524-20000524
11 MATN3 NM_002381.5(MATN3):c.1065T>C (p.Gly355=) SNV Uncertain significance 895350 2:20200305-20200305 2:20000544-20000544
12 MATN3 NM_002381.5(MATN3):c.514G>A (p.Glu172Lys) SNV Uncertain significance 896817 2:20205781-20205781 2:20006020-20006020
13 MATN3 NM_002381.5(MATN3):c.477C>G (p.Gly159=) SNV Uncertain significance 896818 2:20205818-20205818 2:20006057-20006057
14 MATN3 NM_002381.5(MATN3):c.304G>T (p.Val102Leu) SNV Uncertain significance 896819 2:20205991-20205991 2:20006230-20006230
15 MATN3 NM_002381.5(MATN3):c.*1044A>C SNV Uncertain significance 897159 2:20191828-20191828 2:19992067-19992067
16 MATN3 NM_002381.5(MATN3):c.*996A>G SNV Uncertain significance 897160 2:20191876-20191876 2:19992115-19992115
17 MATN3 NM_002381.5(MATN3):c.*989C>G SNV Uncertain significance 897161 2:20191883-20191883 2:19992122-19992122
18 MATN3 NM_002381.5(MATN3):c.*955G>A SNV Uncertain significance 897162 2:20191917-20191917 2:19992156-19992156
19 MATN3 NM_002381.5(MATN3):c.671G>A (p.Arg224Gln) SNV Uncertain significance 333422 rs201491595 2:20205624-20205624 2:20005863-20005863
20 MATN3 NM_002381.5(MATN3):c.*660G>A SNV Uncertain significance 333409 rs766531074 2:20192212-20192212 2:19992451-19992451
21 MATN3 NM_002381.5(MATN3):c.209G>A (p.Arg70His) SNV Uncertain significance 7545 rs104893640 2:20212184-20212184 2:20012423-20012423
22 MATN3 NM_002381.5(MATN3):c.526G>T (p.Val176Leu) SNV Uncertain significance 593099 rs200762092 2:20205769-20205769 2:20006008-20006008
23 MATN3 NM_002381.5(MATN3):c.524C>A (p.Thr175Lys) SNV Uncertain significance 895422 2:20205771-20205771 2:20006010-20006010
24 MATN3 NM_002381.5(MATN3):c.523A>C (p.Thr175Pro) SNV Uncertain significance 895423 2:20205772-20205772 2:20006011-20006011
25 MATN3 NM_002381.5(MATN3):c.906A>G (p.Lys302=) SNV Uncertain significance 896760 2:20202932-20202932 2:20003171-20003171
26 MATN3 NM_002381.5(MATN3):c.832G>A (p.Val278Ile) SNV Uncertain significance 499445 rs149976914 2:20203006-20203006 2:20003245-20003245
27 MATN3 NM_002381.5(MATN3):c.822G>A (p.Gln274=) SNV Uncertain significance 896761 2:20203016-20203016 2:20003255-20003255
28 MATN3 NM_002381.5(MATN3):c.*44C>G SNV Uncertain significance 333411 rs751281546 2:20192828-20192828 2:19993067-19993067
29 MATN3 NM_002381.5(MATN3):c.*749T>G SNV Uncertain significance 897164 2:20192123-20192123 2:19992362-19992362
30 MATN3 NM_002381.5(MATN3):c.*312T>A SNV Uncertain significance 897165 2:20192560-20192560 2:19992799-19992799
31 MATN3 NM_002381.5(MATN3):c.223+8C>A SNV Uncertain significance 720237 rs993108436 2:20212162-20212162 2:20012401-20012401
32 MATN3 NM_002381.5(MATN3):c.*211A>C SNV Uncertain significance 898326 2:20192661-20192661 2:19992900-19992900
33 MATN3 NM_002381.5(MATN3):c.*152A>T SNV Uncertain significance 898327 2:20192720-20192720 2:19992959-19992959
34 MATN3 NM_002381.5(MATN3):c.*74G>A SNV Uncertain significance 898328 2:20192798-20192798 2:19993037-19993037
35 MATN3 NM_002381.5(MATN3):c.197G>C (p.Ser66Thr) SNV Uncertain significance 898673 2:20212196-20212196 2:20012435-20012435
36 MATN3 NM_002381.5(MATN3):c.185C>T (p.Ala62Val) SNV Uncertain significance 898674 2:20212208-20212208 2:20012447-20012447
37 MATN3 NM_002381.5(MATN3):c.180G>T (p.Ala60=) SNV Uncertain significance 898675 2:20212213-20212213 2:20012452-20012452
38 MATN3 NM_002381.5(MATN3):c.160C>A (p.Pro54Thr) SNV Uncertain significance 898676 2:20212233-20212233 2:20012472-20012472
39 MATN3 NM_002381.5(MATN3):c.150C>T (p.Arg50=) SNV Uncertain significance 898677 2:20212243-20212243 2:20012482-20012482
40 MATN3 NM_002381.5(MATN3):c.90C>T (p.Pro30=) SNV Uncertain significance 739482 rs996766896 2:20212303-20212303 2:20012542-20012542
41 MATN3 NM_002381.5(MATN3):c.1406-8C>T SNV Uncertain significance 898329 2:20192935-20192935 2:19993174-19993174
42 MATN3 NM_002381.5(MATN3):c.762T>G (p.Leu254=) SNV Uncertain significance 898413 2:20205533-20205533 2:20005772-20005772
43 MATN3 NM_002381.5(MATN3):c.733G>A (p.Val245Met) SNV Likely benign 898414 2:20205562-20205562 2:20005801-20005801
44 MATN3 NM_002381.5(MATN3):c.275G>A (p.Arg92His) SNV Likely benign 897313 2:20206020-20206020 2:20006259-20006259
45 MATN3 NM_002381.5(MATN3):c.664G>A (p.Val222Met) SNV Likely benign 333423 rs753889985 2:20205631-20205631 2:20005870-20005870
46 MATN3 NM_002381.5(MATN3):c.330C>T (p.Ile110=) SNV Likely benign 333427 rs201755444 2:20205965-20205965 2:20006204-20006204
47 MATN3 NM_002381.5(MATN3):c.279C>T (p.Ser93=) SNV Likely benign 333428 rs370980605 2:20206016-20206016 2:20006255-20006255
48 MATN3 NM_002381.5(MATN3):c.349C>T (p.Pro117Ser) SNV Likely benign 333426 rs563628955 2:20205946-20205946 2:20006185-20006185
49 MATN3 NM_002381.5(MATN3):c.945C>T (p.His315=) SNV Likely benign 709045 rs77146641 2:20201813-20201813 2:20002052-20002052
50 MATN3 NM_002381.5(MATN3):c.1171C>T (p.Arg391Cys) SNV Likely benign 283828 rs146599945 2:20197018-20197018 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

Sources

Expression for Epiphyseal Dysplasia, Multiple, 5

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

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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
 12.6 VWF COMP COL9A3 COL9A2 COL9A1
2
Focal Adhesion 36 1
Show member pathways
 12.49 VWF COMP COL9A3 COL9A2 COL9A1
3
Collagen chain trimerization 65
Show member pathways
 12.34 COL9A3 COL9A2 COL9A1
4
Degradation of the extracellular matrix 65
Show member pathways
 12.21 MATN3 COMP COL9A3 COL9A2 COL9A1
5
ECM-receptor interaction 36
Show member pathways
 11.55 VWF COMP COL9A3 COL9A2 COL9A1
6
NCAM1 interactions 65
11 COL9A3 COL9A2 COL9A1
7
Gastric Cancer Network 2 1
10.92 COL9A3 COL9A1
8
ECM proteoglycans 65
10.78 MATN3 COMP COL9A3 COL9A2 COL9A1
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GO Terms for Epiphyseal Dysplasia, Multiple, 5

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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 9.88 VWF MATN3 COMP COL9A3 COL9A2 COL9A1
2 extracellular space GO:0005615 9.85 VWF PDIA4 COMP COL9A3 COL9A2 COL9A1
3 endoplasmic reticulum lumen GO:0005788 9.65 PDIA4 MATN3 COL9A3 COL9A2 COL9A1
4 collagen-containing extracellular matrix GO:0062023 9.63 VWF MATN3 COMP COL9A3 COL9A2 COL9A1
5 collagen trimer GO:0005581 9.5 COL9A3 COL9A2 COL9A1
6 basement membrane GO:0005604 9.43 COL9A3 COL9A1
7 collagen type IX trimer GO:0005594 9.13 COL9A3 COL9A2 COL9A1
8 extracellular matrix GO:0031012 9.1 VWF MATN3 COMP COL9A3 COL9A2 COL9A1

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 9.32 SLC26A2 COMP
2 cartilage development GO:0051216 9.26 MATN3 COMP
3 protein secretion GO:0009306 9.16 PDIA4 COMP
4 skeletal system development GO:0001501 9.13 MATN3 COMP COL9A2
5 extracellular matrix organization GO:0030198 9.1 VWF MATN3 COMP 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 protease binding GO:0002020 9.26 VWF COMP
2 collagen binding GO:0005518 9.16 VWF COMP
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL9A3 COL9A2 COL9A1
4 extracellular matrix structural constituent GO:0005201 9.1 VWF MATN3 COMP COL9A3 COL9A2 COL9A1
Sources

Sources for Epiphyseal Dysplasia, Multiple, 5

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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