EDM1
MCID: EPP017
MIFTS: 45

Epiphyseal Dysplasia, Multiple, 1 (EDM1)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 1

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 1:

Name: Epiphyseal Dysplasia, Multiple, 1 56 43 71
Multiple Epiphyseal Dysplasia 1 12 52 73 29 6 15
Edm1 56 12 52 58 73
Multiple Epiphyseal Dysplasia Comp-Related 12 52
Polyepiphyseal Dysplasia Type 1 12 58
Med1 12 58
Multiple Epiphyseal Dysplasia, Comp-Related 56
Dysplasia, Epiphyseal, Multiple, Type 1 39
Multiple Epiphyseal Dysplasia Type 1 58
Epiphyseal Dysplasia, Multiple 1 13
Epiphyseal Dysplasia Multiple 1 52

Characteristics:

Orphanet epidemiological data:

58
multiple epiphyseal dysplasia type 1
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm2 )
allelic to pseudoachondroplasia
hip joint replacement often necessary
symptoms usually manifest in childhood including waddling gait and painful, stiff joints


HPO:

31
epiphyseal dysplasia, multiple, 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070303
OMIM 56 132400
OMIM Phenotypic Series 56 PS132400
MESH via Orphanet 44 C535501
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 72 C1838280
Orphanet 58 ORPHA93308
UMLS 71 C1838280

Summaries for Epiphyseal Dysplasia, Multiple, 1

UniProtKB/Swiss-Prot : 73 Multiple epiphyseal dysplasia 1: 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, 1, also known as multiple epiphyseal dysplasia 1, is related to multiple epiphyseal dysplasia and epiphyseal dysplasia, multiple, 3. An important gene associated with Epiphyseal Dysplasia, Multiple, 1 is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. Affiliated tissues include bone, and related phenotypes are osteoarthritis and epiphyseal dysplasia

Disease Ontology : 12 A multiple epiphyseal dysplasia that has material basis in heterozygous mutation in the COMP gene on chromosome 19p13.

OMIM : 56 Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis (Briggs et al., 1995). (132400)

Related Diseases for Epiphyseal Dysplasia, Multiple, 1

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 31.0 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
2 epiphyseal dysplasia, multiple, 3 30.7 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
3 pseudoachondroplasia 30.6 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
4 epiphyseal dysplasia, multiple, 2 30.0 SLC26A2 MATN3 GPR33 COMP COL9A3 COL9A2
5 dilated cardiomyopathy 10.3
6 atrial standstill 1 10.2
7 prostate cancer 10.2
8 osteogenic sarcoma 10.2
9 pancreatic cancer 10.2
10 fatty liver disease, nonalcoholic 1 10.2
11 fatty liver disease 10.2
12 skeletal dysplasias 10.1 MATN3 COMP
13 bladder cancer 10.1
14 breast cancer 10.1
15 nondisjunction 10.1
16 triiodothyronine receptor auxiliary protein 10.1
17 acute promyelocytic leukemia 10.1
18 estrogen resistance 10.1
19 arrhythmogenic right ventricular cardiomyopathy 10.1
20 embryonal carcinoma 10.1
21 48,xyyy 10.1
22 rapidly involuting congenital hemangioma 10.1
23 back pain 10.1 COL9A3 COL9A2
24 hypochondrogenesis 9.9 COL9A2 COL9A1
25 intervertebral disc disease 9.9 COL9A3 COL9A2
26 osteochondrosis 9.9 COL9A3 COL9A1
27 spondyloepiphyseal dysplasia congenita 9.8 MATN3 COMP COL9A1
28 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.8 COL9A3 COL9A2 COL9A1
29 autosomal recessive stickler syndrome 9.8 COL9A3 COL9A2 COL9A1
30 vitreous syneresis 9.8 COL9A3 COL9A2 COL9A1
31 kniest dysplasia 9.7 COL9A3 COL9A2 COL9A1
32 bone deterioration disease 9.7 COL9A3 COL9A2 COL9A1
33 spinal stenosis 9.7 COL9A3 COL9A2 COL9A1
34 bone structure disease 9.7 COL9A3 COL9A2 COL9A1
35 osteoarthritis 9.6 MATN3 COMP COL9A1
36 campomelic dysplasia 9.6 COL9A2 COL9A1
37 otospondylomegaepiphyseal dysplasia 9.6 COMP COL9A3 COL9A2 COL9A1
38 stickler syndrome 9.5 MATN3 COL9A3 COL9A2 COL9A1
39 atelosteogenesis 9.4 SLC26A2 COL9A3 COL9A2 COL9A1
40 multiple epiphyseal dysplasia, autosomal dominant 9.4 MATN3 COMP COL9A3 COL9A2 COL9A1
41 osteochondritis dissecans 9.4 MATN3 COMP COL9A3 COL9A2 COL9A1
42 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.3 SLC26A2 MIA2 MATN3 COMP COL9A1
43 spondyloepiphyseal dysplasia with congenital joint dislocations 9.2 SLC26A2 COMP COL9A3 COL9A2 COL9A1
44 epiphyseal dysplasia, multiple, 6 9.2 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
45 epiphyseal dysplasia, multiple, 4 9.2 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
46 epiphyseal dysplasia, multiple, 5 9.0 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
47 achondrogenesis 9.0 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
48 diastrophic dysplasia 9.0 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
49 bone development disease 8.8 SLC26A2 MIA2 MATN3 COMP COL9A3 COL9A2
50 odontochondrodysplasia 8.8 SLC26A2 MIA2 MATN3 COMP COL9A3 COL9A2

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 1:



Diseases related to Epiphyseal Dysplasia, Multiple, 1

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 1

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 1:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
2 epiphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002656
3 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
4 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
5 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
6 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
7 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
8 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
9 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
10 mild short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003502
11 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
12 genu varum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002970
13 joint stiffness 31 HP:0001387
14 short metacarpal 31 HP:0010049
15 ovoid vertebral bodies 31 HP:0003300
16 waddling gait 31 HP:0002515
17 severe short stature 31 HP:0003510
18 disproportionate short-limb short stature 31 HP:0008873
19 avascular necrosis of the capital femoral epiphysis 31 HP:0005743
20 short phalanx of finger 31 HP:0009803
21 limited hip movement 31 HP:0008800
22 irregular vertebral endplates 31 HP:0003301
23 generalized joint laxity 31 HP:0002761
24 small epiphyses 31 HP:0010585
25 irregular epiphyses 31 HP:0010582
26 broad femoral neck 31 HP:0006429
27 short femoral neck 31 HP:0100864
28 delayed epiphyseal ossification 31 HP:0002663
29 hip osteoarthritis 31 HP:0008843

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
ovoid vertebral bodies
mild irregularity of vertebral endplates

Skeletal:
generalized joint laxity

Growth Height:
short stature, mild to moderate
dwarfism, mild short-limb
final adult height 145-170cm

Skeletal Pelvis:
limited hip movement
avascular necrosis of femoral head
broad, short femoral neck
hip osteoarthritis (early-onset)

Skeletal Hands:
short metacarpals
short phalanges

Skeletal Limbs:
late ossifying epiphyses
small, irregular epiphyses
genua valga

Clinical features from OMIM:

132400

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 1:

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, 1

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 1

Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 1

Genetic Tests for Epiphyseal Dysplasia, Multiple, 1

Genetic tests related to Epiphyseal Dysplasia, Multiple, 1:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 1 29

Anatomical Context for Epiphyseal Dysplasia, Multiple, 1

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 1:

40
Bone

Publications for Epiphyseal Dysplasia, Multiple, 1

Articles related to Epiphyseal Dysplasia, Multiple, 1:

(show top 50) (show all 60)
# Title Authors PMID Year
1
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. 6 56
14684695 2003
2
Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. 6 56
9021009 1997
3
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. 61 56
7490089 1995
4
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 56
21922596 2012
5
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. 56
19808781 2010
6
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. 56
15523498 2005
7
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. 56
15266613 2004
8
Multiple Epiphyseal Dysplasia, Autosomal Dominant 6
20301302 2003
9
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. 6
12483304 2003
10
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene. 6
9887340 1999
11
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. 56
7670471 1995
12
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 56
7670472 1995
13
Genetic heterogeneity in multiple epiphyseal dysplasia. 56
7887425 1995
14
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. 56
8279467 1994
15
Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. 56
8465858 1993
16
Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia. 56
8094597 1993
17
Anthropometric studies in five children and their mother with a severe form multiple epiphyseal dysplasia. 56
1609821 1992
18
Pathogenic mechanisms in osteochondrodysplasias. 56
6376516 1984
19
The biochemical defect of pseudoachondroplasia. 56
7117284 1982
20
Multiple epiphyseal dysplasia. Report of a pedigree. 56
4283754 1973
21
A family study of spondyloepiphyseal dysplasia. 56
4991676 1970
22
Multiple epiphyseal dysplasia. A contribution to the problem of spinal involvement. 56
5769300 1969
23
Dysplasia epiphysialis multiplex. 56
5666855 1968
24
Hereditary multiple epiphysial dysplasia. 56
6032004 1967
25
Hereditary peripheral dysostosis (three cases). 56
6018472 1967
26
Dysplasia epiphysialis multiplex: a case report and review of the literature. 56
5938048 1966
27
MULTIPLE EPIPHYSIAL DYSPLASIA. 56
14066186 1963
28
Epiphysial dysplasia multiplex. 56
14415227 1960
29
Peripheral dysostosis. 56
14447114 1960
30
Hereditary enchondral dysostosis; twelve cases in three generations mainly with peripheral location. 56
14428296 1959
31
Dysplasia epiphysialis multiplex; a report of fourteen cases in three families. 56
14381466 1955
32
Multiple epiphysial dysplasia: a report of four cases. 56
14935176 1952
33
The Arabidopsis RRM domain protein EDM3 mediates race-specific disease resistance by controlling H3K9me2-dependent alternative polyadenylation of RPP7 immune receptor transcripts. 61
30407670 2019
34
EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia. 61
23506586 2013
35
[Functional state of adenylyl cyclase signaling system in reproductive tissues of rats with experimental type 1 diabetes]. 61
20352701 2010
36
Reduced expression of alpha-1,2-mannosidase I extends lifespan in Drosophila melanogaster and Caenorhabditis elegans. 61
19302370 2009
37
The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding. 61
19276170 2009
38
Enhanced defense responses in Arabidopsis induced by the cell wall protein fractions from Pythium oligandrum require SGT1, RAR1, NPR1 and JAR1. 61
19304739 2009
39
Ribozyme-mediated reduction of wild-type and mutant cartilage oligomeric matrix protein (COMP) mRNA and protein. 61
19237461 2009
40
Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations. 61
18193163 2008
41
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. 61
17200202 2007
42
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. 61
16514635 2006
43
COMP mutations, chondrocyte function and cartilage matrix. 61
15694129 2005
44
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. 61
15183431 2004
45
Arabidopsis downy mildew resistance gene RPP27 encodes a receptor-like protein similar to CLAVATA2 and tomato Cf-9. 61
15155873 2004
46
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 61
12884427 2003
47
Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis. 61
12819015 2003
48
[Radiologische Besonderheiten einer bilateral vererblichen Mikro-Epiphysendysplasie - deutliche Entität einer Skelettdysplasie]. 61
12101480 2002
49
Arabidopsis SGT1b is required for defense signaling conferred by several downy mildew resistance genes. 61
12034892 2002
50
Disease-causing mutations in cartilage oligomeric matrix protein cause an unstructured Ca2+ binding domain. 61
11782471 2002

Variations for Epiphyseal Dysplasia, Multiple, 1

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 1:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COMP NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)SNV Pathogenic 40994 rs312262900 19:18895866-18895866 19:18785056-18785056
2 COMP NM_000095.3(COMP):c.1754C>T (p.Thr585Met)SNV Pathogenic 40995 rs312262900 19:18895866-18895866 19:18785056-18785056
3 COMP NM_000095.3(COMP):c.1156_1158del (p.Asn386del)deletion Pathogenic 65553 rs397515510 19:18897438-18897440 19:18786628-18786630
4 COMP NM_000095.3(COMP):c.1665C>A (p.Asn555Lys)SNV Pathogenic 65554 rs397515511 19:18896486-18896486 19:18785676-18785676
5 COMP NM_000095.3(COMP):c.1813G>A (p.Asp605Asn)SNV Pathogenic 65555 rs397515512 19:18895807-18895807 19:18784997-18784997
6 COMP NM_000095.3(COMP):c.2042C>G (p.Ser681Cys)SNV Pathogenic 65556 rs397515513 19:18895046-18895046 19:18784236-18784236
7 COMP NM_000095.3(COMP):c.2153G>C (p.Arg718Pro)SNV Pathogenic 65557 rs149551600 19:18893938-18893938 19:18783128-18783128
8 COMP NM_000095.2(COMP):c.1417_1419dupGAC (p.Asp473_Asn474insAsp)short repeat Pathogenic 9193 19:18896845-18896847 19:18786035-18786037
9 COMP NM_000095.3(COMP):c.2223dup (p.Asn742fs)duplication Pathogenic 9197 rs869320730 19:18893868-18893868 19:18783058-18783058
10 COMP NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)SNV Pathogenic 9198 rs28936368 19:18893939-18893939 19:18783129-18783129
11 COMP NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr)SNV Likely pathogenic 438839 rs1555791556 19:18898309-18898309 19:18787500-18787500
12 COMP NM_000095.3(COMP):c.1265A>C (p.Asp422Ala)SNV Likely pathogenic 623129 rs1568554988 19:18897091-18897091 19:18786281-18786281
13 COMP NM_000095.3(COMP):c.1315G>A (p.Asp439Asn)SNV Likely pathogenic 692028 19:18896949-18896949 19:18786139-18786139
14 COMP NM_000095.3(COMP):c.887C>G (p.Pro296Arg)SNV Likely pathogenic 692045 19:18899109-18899109 19:18788300-18788300
15 COMP NM_000095.3(COMP):c.763T>C (p.Cys255Arg)SNV Likely pathogenic 692048 19:18899323-18899323 19:18788514-18788514
16 COMP NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)SNV Likely pathogenic 9189 rs137852654 19:18896582-18896582 19:18785772-18785772
17 COMP NM_000095.3(COMP):c.2150T>G (p.Met717Arg)SNV Uncertain significance 635466 19:18893941-18893941 19:18783131-18783131
18 COMP NM_000095.3(COMP):c.1489+2T>ASNV Uncertain significance 430605 rs1131692038 19:18896773-18896773 19:18785963-18785963
19 COMP NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)SNV Benign/Likely benign 40987 rs61739916 19:18897440-18897440 19:18786630-18786630

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 1:

73 (show all 29)
# Symbol AA change Variation ID SNP ID
1 COMP p.Asp342Tyr VAR_007617 rs137852652
2 COMP p.Asp361Val VAR_007619
3 COMP p.Asp361Tyr VAR_007620
4 COMP p.Cys371Ser VAR_007622
5 COMP p.Asp408Tyr VAR_007627
6 COMP p.Asn453Ser VAR_007630 rs28936668
7 COMP p.Asn523Lys VAR_007640 rs137852654
8 COMP p.Thr585Arg VAR_007642 rs312262900
9 COMP p.Pro276Arg VAR_026239 rs131184574
10 COMP p.Asp420Ala VAR_026240
11 COMP p.Gly167Glu VAR_066789 rs763887855
12 COMP p.Ser298Leu VAR_066792
13 COMP p.Ala311Asp VAR_066793
14 COMP p.Asp317Gly VAR_066794
15 COMP p.Asp326Gly VAR_066795
16 COMP p.Cys348Phe VAR_066798
17 COMP p.Cys371Tyr VAR_066800 rs105752113
18 COMP p.Asp374Asn VAR_066801
19 COMP p.Asp376Asn VAR_066802
20 COMP p.Asp385Asn VAR_066804
21 COMP p.Asp385Tyr VAR_066805
22 COMP p.Asp397His VAR_066808
23 COMP p.Gly404Arg VAR_066810
24 COMP p.Cys410Tyr VAR_066811
25 COMP p.Asn415Lys VAR_066812
26 COMP p.Gly427Glu VAR_066813
27 COMP p.Gly501Asp VAR_066821 rs155579142
28 COMP p.Arg718Pro VAR_066826 rs149551600
29 COMP p.Arg718Trp VAR_066827 rs28936368

Expression for Epiphyseal Dysplasia, Multiple, 1

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 1.

Pathways for Epiphyseal Dysplasia, Multiple, 1

Pathways related to Epiphyseal Dysplasia, Multiple, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 COMP COL9A3 COL9A2 COL9A1
2
Show member pathways
12.39 COMP COL9A3 COL9A2 COL9A1
3
Show member pathways
12.31 MATN3 COMP COL9A3 COL9A2 COL9A1
4
Show member pathways
11.45 COMP COL9A3 COL9A2 COL9A1
5 10.9 COL9A3 COL9A2 COL9A1
6 10.89 COL9A3 COL9A1
7 10.78 MATN3 COMP COL9A3 COL9A2 COL9A1

GO Terms for Epiphyseal Dysplasia, Multiple, 1

Cellular components related to Epiphyseal Dysplasia, Multiple, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.65 MATN3 COMP COL9A3 COL9A2 COL9A1
2 endoplasmic reticulum lumen GO:0005788 9.55 MATN3 FMO1 COL9A3 COL9A2 COL9A1
3 collagen trimer GO:0005581 9.5 COL9A3 COL9A2 COL9A1
4 extracellular matrix GO:0031012 9.35 MATN3 COMP COL9A3 COL9A2 COL9A1
5 collagen type IX trimer GO:0005594 8.8 COL9A3 COL9A2 COL9A1

Biological processes related to Epiphyseal Dysplasia, Multiple, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein secretion GO:0009306 9.16 MIA2 COMP
2 skeletal system development GO:0001501 9.13 MATN3 COMP COL9A2
3 extracellular matrix organization GO:0030198 9.02 MATN3 COMP COL9A3 COL9A2 COL9A1

Molecular functions related to Epiphyseal Dysplasia, Multiple, 1 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 9.02 MATN3 COMP COL9A3 COL9A2 COL9A1

Sources for Epiphyseal Dysplasia, Multiple, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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