EDM1
MCID: EPP017
MIFTS: 46

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 57 44 70
Multiple Epiphyseal Dysplasia 1 12 20 72 29 6 15
Edm1 57 12 20 58 72
Multiple Epiphyseal Dysplasia Comp-Related 12 20
Polyepiphyseal Dysplasia Type 1 12 58
Med1 12 58
Multiple Epiphyseal Dysplasia, Comp-Related 57
Dysplasia, Epiphyseal, Multiple, Type 1 39
Multiple Epiphyseal Dysplasia Type 1 58
Epiphyseal Dysplasia, Multiple 1 13
Epiphyseal Dysplasia Multiple 1 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 132400
OMIM Phenotypic Series 57 PS132400
MESH via Orphanet 45 C535501
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 71 C1838280
Orphanet 58 ORPHA93308
UMLS 70 C1838280

Summaries for Epiphyseal Dysplasia, Multiple, 1

UniProtKB/Swiss-Prot : 72 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 hip dysplasia and short long bone

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

OMIM® : 57 Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis (Briggs et al., 1995). (132400) (Updated 05-Apr-2021)

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 top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 31.2 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 30.1 SLC26A2 MATN3 GPR33 COMP COL9A3 COL9A2
5 amelogenesis imperfecta 11.0
6 triiodothyronine receptor auxiliary protein 10.2
7 non-alcoholic fatty liver disease 10.2
8 fatty liver disease 10.2
9 back pain 10.1 COL9A3 COL9A2
10 prostate cancer 10.1
11 fatty liver disease, nonalcoholic 1 10.1
12 dilated cardiomyopathy 10.1
13 legg-calve-perthes disease 10.0 SLC26A2 MATN3
14 bone deterioration disease 10.0 COL9A3 COL9A2
15 atrial standstill 1 10.0
16 breast cancer 10.0
17 osteogenic sarcoma 10.0
18 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL9A2 COL9A1
19 intervertebral disc disease 10.0 COL9A3 COL9A2
20 skeletal dysplasias 10.0 SLC26A2 MATN3 COMP
21 bone structure disease 9.9 COL9A3 COL9A2
22 fibrochondrogenesis 9.9 COL9A3 COL9A2 COL9A1
23 autosomal recessive stickler syndrome 9.9 COL9A3 COL9A2 COL9A1
24 bladder cancer 9.9
25 nondisjunction 9.9
26 ovarian cancer 9.9
27 small cell cancer of the lung 9.9
28 acute promyelocytic leukemia 9.9
29 estrogen resistance 9.9
30 helix syndrome 9.9
31 arrhythmogenic right ventricular cardiomyopathy 9.9
32 interleukin-7 receptor alpha deficiency 9.9
33 rapidly involuting congenital hemangioma 9.9
34 ischemia 9.9
35 embryonal carcinoma 9.9
36 48,xyyy 9.9
37 exencephaly 9.9
38 vitreous syneresis 9.8 COL9A3 COL9A2 COL9A1
39 kniest dysplasia 9.8 COL9A3 COL9A2 COL9A1
40 marshall syndrome 9.8 COL9A3 COL9A2 COL9A1
41 spinal stenosis 9.8 COL9A3 COL9A2 COL9A1
42 osteoarthritis 9.8 MATN3 COMP COL9A1
43 retinal detachment 9.8 COL9A3 COL9A2 COL9A1
44 campomelic dysplasia 9.7 COL9A2 COL9A1
45 achondrogenesis, type ii 9.7 SLC26A2 MATN3 COMP COL9A1
46 fibrochondrogenesis 1 9.7 MATN3 COL9A3 COL9A2 COL9A1
47 hypochondrogenesis 9.7 SLC26A2 MATN3 COL9A2 COL9A1
48 stickler syndrome 9.7 MATN3 COL9A3 COL9A2 COL9A1
49 atelosteogenesis 9.6 SLC26A2 COL9A3 COL9A2 COL9A1
50 multiple epiphyseal dysplasia, autosomal dominant 9.6 MATN3 COMP COL9A3 COL9A2 COL9A1

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 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
2 short long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003026
3 arthralgia of the hip 58 31 frequent (33%) Frequent (79-30%) HP:0003365
4 knee pain 58 31 frequent (33%) Frequent (79-30%) HP:0030839
5 postexertional malaise 58 31 frequent (33%) Frequent (79-30%) HP:0030973
6 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
7 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
8 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
9 disproportionate short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0003498
10 abnormality of the acetabulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0003170
11 finger joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0006094
12 delayed epiphyseal ossification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002663
13 knee joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0045086
14 ankle pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0030840
15 genu valgum 58 31 very rare (1%) Very rare (<4-1%) HP:0002857
16 genu varum 58 31 very rare (1%) Very rare (<4-1%) HP:0002970
17 coxa vara 58 31 very rare (1%) Very rare (<4-1%) HP:0002812
18 avascular necrosis of the capital femoral epiphysis 58 31 very rare (1%) Very rare (<4-1%) HP:0005743
19 gait disturbance 58 Frequent (79-30%)
20 epiphyseal dysplasia 31 HP:0002656
21 ovoid vertebral bodies 31 HP:0003300
22 brachydactyly 58 Excluded (0%)
23 limitation of joint mobility 58 Occasional (29-5%)
24 short metacarpal 31 HP:0010049
25 disproportionate short-limb short stature 31 HP:0008873
26 severe short stature 31 HP:0003510
27 short phalanx of finger 31 HP:0009803
28 mild short stature 31 HP:0003502
29 irregular vertebral endplates 31 HP:0003301
30 irregular epiphyses 31 HP:0010582
31 broad femoral neck 31 HP:0006429
32 short femoral neck 31 HP:0100864
33 generalized joint laxity 31 HP:0002761
34 hip osteoarthritis 31 HP:0008843
35 limited hip movement 31 HP:0008800
36 small epiphyses 31 HP:0010585

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
ovoid vertebral bodies
mild irregularity of vertebral endplates

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

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

Skeletal:
generalized joint laxity

Skeletal Hands:
short metacarpals
short phalanges

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

Clinical features from OMIM®:

132400 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.1 COL9A1 COL9A2 COMP MATN3 SLC26A2 TMED2

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 COMP

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 68)
# Title Authors PMID Year
1
Mutations in COMP cause familial carpal tunnel syndrome. 6 57
32686688 2020
2
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. 6 57
21922596 2012
3
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. 57 6
15523498 2005
4
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. 57 6
14684695 2003
5
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. 6 57
12483304 2003
6
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene. 6 57
9887340 1999
7
Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. 57 6
9021009 1997
8
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 57 6
7670472 1995
9
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. 57 6
7670471 1995
10
The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding. 61 6
19276170 2009
11
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. 61 57
7490089 1995
12
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. 6
27330822 2016
13
Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases. 6
23956175 2013
14
A novel COMP mutation in a Chinese patient with pseudoachondroplasia. 6
23562786 2013
15
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. 6
22006726 2012
16
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. 57
19808781 2010
17
COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. 6
17570134 2008
18
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. 57
15266613 2004
19
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. 6
11968079 2002
20
Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX. 6
11084047 2001
21
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. 57
9463320 1998
22
Genetic heterogeneity in multiple epiphyseal dysplasia. 57
7887425 1995
23
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. 57
8279467 1994
24
Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia. 57
8094597 1993
25
Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. 57
8465858 1993
26
Anthropometric studies in five children and their mother with a severe form multiple epiphyseal dysplasia. 57
1609821 1992
27
Pathogenic mechanisms in osteochondrodysplasias. 57
6376516 1984
28
The biochemical defect of pseudoachondroplasia. 57
7117284 1982
29
Multiple epiphyseal dysplasia. Report of a pedigree. 57
4283754 1973
30
A family study of spondyloepiphyseal dysplasia. 57
4991676 1970
31
Multiple epiphyseal dysplasia. A contribution to the problem of spinal involvement. 57
5769300 1969
32
Dysplasia epiphysialis multiplex. 57
5666855 1968
33
Hereditary multiple epiphysial dysplasia. 57
6032004 1967
34
Hereditary peripheral dysostosis (three cases). 57
6018472 1967
35
Dysplasia epiphysialis multiplex: a case report and review of the literature. 57
5938048 1966
36
MULTIPLE EPIPHYSIAL DYSPLASIA. 57
14066186 1963
37
Epiphysial dysplasia multiplex. 57
14415227 1960
38
Peripheral dysostosis. 57
14447114 1960
39
Hereditary enchondral dysostosis; twelve cases in three generations mainly with peripheral location. 57
14428296 1959
40
Dysplasia epiphysialis multiplex; a report of fourteen cases in three families. 57
14381466 1955
41
Multiple epiphysial dysplasia: a report of four cases. 57
14935176 1952
42
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
43
EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia. 61
23506586 2013
44
[Functional state of adenylyl cyclase signaling system in reproductive tissues of rats with experimental type 1 diabetes]. 61
20352701 2010
45
Reduced expression of alpha-1,2-mannosidase I extends lifespan in Drosophila melanogaster and Caenorhabditis elegans. 61
19302370 2009
46
Enhanced defense responses in Arabidopsis induced by the cell wall protein fractions from Pythium oligandrum require SGT1, RAR1, NPR1 and JAR1. 61
19304739 2009
47
Ribozyme-mediated reduction of wild-type and mutant cartilage oligomeric matrix protein (COMP) mRNA and protein. 61
19237461 2009
48
Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations. 61
18193163 2008
49
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. 61
17200202 2007
50
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. 61
16514635 2006

Variations for Epiphyseal Dysplasia, Multiple, 1

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

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COMP NM_000095.3(COMP):c.2223dup (p.Asn742fs) Duplication Pathogenic 9197 rs869320730 GRCh37: 19:18893867-18893868
GRCh38: 19:18783057-18783058
2 COMP NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) SNV Pathogenic 40994 rs312262900 GRCh37: 19:18895866-18895866
GRCh38: 19:18785056-18785056
3 COMP NM_000095.3(COMP):c.1754C>T (p.Thr585Met) SNV Pathogenic 40995 rs312262900 GRCh37: 19:18895866-18895866
GRCh38: 19:18785056-18785056
4 COMP NM_000095.3(COMP):c.2153G>C (p.Arg718Pro) SNV Pathogenic 65557 rs149551600 GRCh37: 19:18893938-18893938
GRCh38: 19:18783128-18783128
5 COMP NM_000095.3(COMP):c.2042C>G (p.Ser681Cys) SNV Pathogenic 65556 rs397515513 GRCh37: 19:18895046-18895046
GRCh38: 19:18784236-18784236
6 COMP NM_000095.3(COMP):c.1813G>A (p.Asp605Asn) SNV Pathogenic 65555 rs397515512 GRCh37: 19:18895807-18895807
GRCh38: 19:18784997-18784997
7 COMP NM_000095.3(COMP):c.1665C>A (p.Asn555Lys) SNV Pathogenic 65554 rs397515511 GRCh37: 19:18896486-18896486
GRCh38: 19:18785676-18785676
8 COMP NM_000095.3(COMP):c.1156_1158del (p.Asn386del) Deletion Pathogenic 65553 rs397515510 GRCh37: 19:18897438-18897440
GRCh38: 19:18786628-18786630
9 COMP NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) SNV Pathogenic 9198 rs28936368 GRCh37: 19:18893939-18893939
GRCh38: 19:18783129-18783129
10 COMP NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr) SNV Pathogenic 807400 rs1601054715 GRCh37: 19:18897443-18897443
GRCh38: 19:18786633-18786633
11 COMP NM_000095.2(COMP):c.1417_1419dupGAC (p.Asp473_Asn474insAsp) Microsatellite Pathogenic 9193 rs193922900 GRCh37: 19:18896844-18896845
GRCh38: 19:18786034-18786035
12 COMP NM_000095.3(COMP):c.1405_1407GAC[4] (p.Asp473del) Microsatellite Pathogenic 40988 rs193922900 GRCh37: 19:18896845-18896847
GRCh38: 19:18786035-18786037
13 COMP NM_000095.3(COMP):c.975+2T>G SNV Pathogenic 1032189 GRCh37: 19:18899019-18899019
GRCh38: 19:18788210-18788210
14 COMP NM_000095.3(COMP):c.1403G>C (p.Cys468Ser) SNV Likely pathogenic 989361 GRCh37: 19:18896861-18896861
GRCh38: 19:18786051-18786051
15 COMP NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr) SNV Likely pathogenic 438839 rs1555791556 GRCh37: 19:18898309-18898309
GRCh38: 19:18787500-18787500
16 COMP NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) SNV Likely pathogenic 9189 rs137852654 GRCh37: 19:18896582-18896582
GRCh38: 19:18785772-18785772
17 COMP NM_000095.3(COMP):c.1315G>A (p.Asp439Asn) SNV Likely pathogenic 692028 rs1601054002 GRCh37: 19:18896949-18896949
GRCh38: 19:18786139-18786139
18 COMP NM_000095.3(COMP):c.887C>G (p.Pro296Arg) SNV Likely pathogenic 692045 rs1601057167 GRCh37: 19:18899109-18899109
GRCh38: 19:18788300-18788300
19 COMP NM_000095.3(COMP):c.763T>C (p.Cys255Arg) SNV Likely pathogenic 692048 rs1601057570 GRCh37: 19:18899323-18899323
GRCh38: 19:18788514-18788514
20 COMP NM_000095.3(COMP):c.1265A>C (p.Asp422Ala) SNV Likely pathogenic 623129 rs1568554988 GRCh37: 19:18897091-18897091
GRCh38: 19:18786281-18786281
21 COMP NM_000095.3(COMP):c.1454G>A (p.Arg485His) SNV Uncertain significance 992397 GRCh37: 19:18896810-18896810
GRCh38: 19:18786000-18786000
22 COMP NM_000095.3(COMP):c.2150T>G (p.Met717Arg) SNV Uncertain significance 635466 rs1601049483 GRCh37: 19:18893941-18893941
GRCh38: 19:18783131-18783131
23 COMP NM_000095.3(COMP):c.566A>G (p.His189Arg) SNV Uncertain significance 328621 rs199792797 GRCh37: 19:18899685-18899685
GRCh38: 19:18788876-18788876
24 COMP NM_000095.3(COMP):c.87C>T (p.Asp29=) SNV Uncertain significance 328630 rs759794906 GRCh37: 19:18901737-18901737
GRCh38: 19:18790928-18790928
25 COMP NM_000095.3(COMP):c.1993C>A (p.Arg665=) SNV Uncertain significance 328610 rs370202476 GRCh37: 19:18895095-18895095
GRCh38: 19:18784285-18784285
26 COMP NM_000095.3(COMP):c.218-7C>G SNV Uncertain significance 328626 rs554031979 GRCh37: 19:18900930-18900930
GRCh38: 19:18790121-18790121
27 COMP NM_000095.3(COMP):c.763-6C>G SNV Uncertain significance 328618 rs886054303 GRCh37: 19:18899329-18899329
GRCh38: 19:18788520-18788520
28 COMP NM_000095.3(COMP):c.620G>A (p.Gly207Asp) SNV Uncertain significance 328619 rs886054304 GRCh37: 19:18899543-18899543
GRCh38: 19:18788734-18788734
29 COMP NM_000095.3(COMP):c.867+11G>A SNV Uncertain significance 328617 rs776412620 GRCh37: 19:18899208-18899208
GRCh38: 19:18788399-18788399
30 COMP NM_000095.3(COMP):c.69G>A (p.Gln23=) SNV Uncertain significance 328631 rs886054307 GRCh37: 19:18902010-18902010
GRCh38: 19:18791201-18791201
31 COMP NM_000095.3(COMP):c.*111A>G SNV Uncertain significance 328606 rs886054301 GRCh37: 19:18893614-18893614
GRCh38: 19:18782804-18782804
32 COMP NM_000095.3(COMP):c.1590C>A (p.Asp530Glu) SNV Uncertain significance 328615 rs759687021 GRCh37: 19:18896561-18896561
GRCh38: 19:18785751-18785751
33 COMP NM_000095.3(COMP):c.377C>T (p.Thr126Ile) SNV Uncertain significance 328624 rs886054305 GRCh37: 19:18900764-18900764
GRCh38: 19:18789955-18789955
34 COMP NM_000095.3(COMP):c.1979C>G (p.Thr660Arg) SNV Uncertain significance 328611 rs150534218 GRCh37: 19:18895109-18895109
GRCh38: 19:18784299-18784299
35 COMP NM_000095.3(COMP):c.218-14C>G SNV Uncertain significance 328627 rs150008764 GRCh37: 19:18900937-18900937
GRCh38: 19:18790128-18790128
36 COMP NM_000095.3(COMP):c.11A>C (p.Asp4Ala) SNV Uncertain significance 888609 GRCh37: 19:18902068-18902068
GRCh38: 19:18791259-18791259
37 COMP NM_000095.3(COMP):c.165+9C>A SNV Uncertain significance 328629 rs886054306 GRCh37: 19:18901650-18901650
GRCh38: 19:18790841-18790841
38 COMP NM_000095.3(COMP):c.1836C>G (p.Val612=) SNV Uncertain significance 328612 rs886054302 GRCh37: 19:18895784-18895784
GRCh38: 19:18784974-18784974
39 COMP NM_000095.3(COMP):c.1489+2T>A SNV Uncertain significance 430605 rs1131692038 GRCh37: 19:18896773-18896773
GRCh38: 19:18785963-18785963
40 COMP NM_000095.3(COMP):c.1894G>A (p.Glu632Lys) SNV Uncertain significance 889494 GRCh37: 19:18895726-18895726
GRCh38: 19:18784916-18784916
41 COMP NM_000095.3(COMP):c.862C>A (p.Arg288Ser) SNV Uncertain significance 889555 GRCh37: 19:18899224-18899224
GRCh38: 19:18788415-18788415
42 COMP NM_000095.3(COMP):c.850G>A (p.Glu284Lys) SNV Uncertain significance 889556 GRCh37: 19:18899236-18899236
GRCh38: 19:18788427-18788427
43 COMP NM_000095.3(COMP):c.345C>G (p.Pro115=) SNV Uncertain significance 889619 GRCh37: 19:18900796-18900796
GRCh38: 19:18789987-18789987
44 COMP NM_000095.3(COMP):c.327G>T (p.Ala109=) SNV Uncertain significance 889620 GRCh37: 19:18900814-18900814
GRCh38: 19:18790005-18790005
45 COMP NM_000095.3(COMP):c.314C>A (p.Thr105Lys) SNV Uncertain significance 889621 GRCh37: 19:18900827-18900827
GRCh38: 19:18790018-18790018
46 COMP NM_000095.3(COMP):c.1803T>C (p.Phe601=) SNV Uncertain significance 890165 GRCh37: 19:18895817-18895817
GRCh38: 19:18785007-18785007
47 COMP NM_000095.3(COMP):c.643G>C (p.Gly215Arg) SNV Uncertain significance 890213 GRCh37: 19:18899520-18899520
GRCh38: 19:18788711-18788711
48 COMP NM_000095.3(COMP):c.235C>A (p.Arg79Ser) SNV Uncertain significance 890264 GRCh37: 19:18900906-18900906
GRCh38: 19:18790097-18790097
49 COMP NM_000095.3(COMP):c.217+15G>A SNV Uncertain significance 892072 GRCh37: 19:18901356-18901356
GRCh38: 19:18790547-18790547
50 COMP NM_000095.3(COMP):c.868-4C>T SNV Uncertain significance 328616 rs529806631 GRCh37: 19:18899132-18899132
GRCh38: 19:18788323-18788323

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

72 (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 skeletal system development GO:0001501 9.33 MATN3 COMP COL9A2
2 protein secretion GO:0009306 9.26 MIA2 COMP
3 extracellular matrix organization GO:0030198 9.02 MATN3 COMP COL9A3 COL9A2 COL9A1
4 cargo loading into vesicle GO:0035459 8.96 TMED2 MIA2

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
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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