EDM
MCID: MLT007
MIFTS: 73

Multiple Epiphyseal Dysplasia (EDM) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Multiple Epiphyseal Dysplasia

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NIH Rare Diseases:42 Multiple epiphyseal dysplasia (med) is a group of disorders of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). there are two types, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. both types have relatively mild signs and symptoms, which may include joint pain that most commonly affects the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. recessive med is additionally characterized by malformations of the hands, feet, and knees; scoliosis; and other abnormalities. the majority of individuals are diagnosed during childhood, but some mild cases may not be diagnosed until adulthood. dominant med is caused by mutations in the comp, col9a1, col9a2, col9a3, or matn3 genes (or can be of unknown cause), and recessive med is caused by mutations in the slc26a2 gene. last updated: 5/12/2011

MalaCards based summary: Multiple Epiphyseal Dysplasia, also known as edm5, is related to pseudoachondroplasia and multiple epiphyseal dysplasia, dominant, and has symptoms including epiphyseal anomaly, osteoarthritis and autosomal dominant inheritance. An important gene associated with Multiple Epiphyseal Dysplasia is MATN3 (matrilin 3), and among its related pathways are Gastric cancer network 2 and NCAM signaling for neurite out-growth. The compounds pentosidine and neurocan have been mentioned in the context of this disorder. Affiliated tissues include hip or, bone and heart, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Disease Ontology:8 An osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. the disease has symptom fatigue, has symptom joint pain.

Genetics Home Reference:21 Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.

Wikipedia:65 Fairbanks disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form?1 in... more...

Descriptions from OMIM:46 132400, 600204, 600969, 614135, 226900 607078 more

Aliases & Classifications for Multiple Epiphyseal Dysplasia

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 62UMLS, 48Orphanet, 46OMIM, 57SNOMED-CT, 27ICD9CM, 34MeSH, 26ICD10 via Orphanet, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Multiple Epiphyseal Dysplasia, Aliases & Descriptions:

Name: Multiple Epiphyseal Dysplasia 8 42 21 10 44 62
Edm5 21 48 62
Edm4 21 48 62
Edm1 21 48 62
Multiple Epiphyseal Dysplasia, Autosomal Recessive 21 62
Epiphyseal Dysplasia, Multiple, 2 21 46
Epiphyseal Dysplasia, Multiple, 5 21 46
Epiphyseal Dysplasia, Multiple, 4 21 46
Epiphyseal Dysplasia, Multiple, 3 21 46
Rmed 21 48
Edm3 21 62
Edm2 21 62
Med 42 21
Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 48
Autosomal Recessive Multiple Epiphyseal Dysplasia 48
Multiple Epiphyseal Dysplasia, Autosomal Dominant 21
 
Multiple Epiphyseal Dysplasia Type 4 48
Multiple Epiphyseal Dysplasia Type 1 48
Multiple Epiphyseal Dysplasia Type 5 48
Epiphyseal Dysplasia, Fairbank Type 21
Epiphyseal Dysplasia, Ribbing Type 21
Epiphyseal Dysplasia, Multiple, 1 21
Epiphyseal Dysplasia, Multiple 1 46
Polyepiphyseal Dysplasia Type 4 48
Polyepiphyseal Dysplasia Type 5 48
Polyepiphyseal Dysplasia Type 1 48
Epiphyseal Dysplasia, Multiple 42
Med1 48
Med4 48
Med5 48
Edm 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
edm4:
Inheritance: Autosomal recessive
edm1:
Inheritance: Autosomal dominant
edm5:
Inheritance: Autosomal dominant


External Ids:

Disease Ontology8 DOID:12721
ICD9CM27 756.56
MeSH34 D010009
SNOMED-CT57 59708000, 205504001
ICD10 via Orphanet26 Q77.3
MESH via Orphanet35 C535504, C535501, C535505
UMLS via Orphanet63 C1847593, C1838280, C1846843

Related Diseases for Multiple Epiphyseal Dysplasia

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Diseases in the Multiple Epiphyseal Dysplasia family:

Multiple Epiphyseal Dysplasia, Dominant Multiple Epiphyseal Dysplasia, Recessive
Localized Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia 1
Multiple Epiphyseal Dysplasia 2 Multiple Epiphyseal Dysplasia 3
Multiple Epiphyseal Dysplasia 4 Multiple Epiphyseal Dysplasia 5
Col9a2-Related Multiple Epiphyseal Dysplasia Col9a3-Related Multiple Epiphyseal Dysplasia
Col9a1-Related Multiple Epiphyseal Dysplasia Epiphyseal Dysplasia, Multiple, 6

Diseases related to Multiple Epiphyseal Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 147)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplasia31.4COMP, COL9A2, COL9A3, COL9A1, MATN3
2multiple epiphyseal dysplasia, dominant30.8COMP, COL9A2, COL9A3, COL9A1, MATN3
3osteochondritis dissecans30.7ACAN, COL9A2, COL9A3, COL9A1
4metaphyseal dysplasia30.6CRELD2, COL2A1
5achondroplasia30.5ACAN, COMP, COL2A1
6short stature30.5COMP, COL2A1, MATN3, CD36
7arthritis30.5COL2A1, ACAN
8brachydactyly30.4COL2A1, COMP
9dwarfism30.4ACAN, COMP, COL2A1
10diastrophic dysplasia30.3SLC26A2, MATN3, COL9A3, COL2A1, COMP, COL9A2
11cleft palate30.0COL2A1, COL11A1, COL11A2
12osteoarthritis28.8COL9A1, MATN3, CD36, COL9A3, COL2A1, DCN
13multiple epiphyseal dysplasia 410.7
14multiple epiphyseal dysplasia, recessive10.5
15achondrogenesis10.5SLC26A2
16multiple epiphyseal dysplasia, lowry type10.5
17multiple epiphyseal dysplasia 110.5
18multiple epiphyseal dysplasia 510.5
19multiple epiphyseal dysplasia, al-gazali type10.5
20spondyloepimetaphyseal dysplasia10.4MATN3, COMP
21degenerative disc disease10.4COL9A2, COL9A3
22myopathy10.4
23fairbank disease10.4
24multiple epiphyseal dysplasia 210.4
25multiple epiphyseal dysplasia, with miniepiphyses10.4
26multiple epiphyseal dysplasia, with severe proximal femoral dysplasia10.4
27relapsing polychondritis10.3COMP, COL2A1
28lumbar disc disease10.3COL9A3, COL9A2
29lowry wood syndrome10.3
30multiple epiphyseal dysplasia 310.3
31col9a2-related multiple epiphyseal dysplasia10.3
32col9a3-related multiple epiphyseal dysplasia10.3
33col9a1-related multiple epiphyseal dysplasia10.3
34epiphyseal dysplasia, multiple, 610.3
35epiphyseal dysplasia, multiple, with myopia and deafness10.3
36macrocephaly with multiple epiphyseal dysplasia and distinctive facies10.3
37epiphyseal dysplasia, multiple, with myopathy10.3
38campomelic dysplasia10.3COL2A1, COL9A2
39x-linked spondyloepiphyseal dysplasia tarda10.3ACAN, COL2A1
40clubfoot10.3SLC26A2, COL9A1
41marshall syndrome10.3COL11A1
42multiple sclerosis10.3
43relapsing-remitting multiple sclerosis10.3
44fibrochondrogenesis10.2COL11A1
45otosclerosis10.2SLC26A2, CD36
46leukoplakia10.2
47oral leukoplakia10.2
48achondrogenesis type ii10.2COL2A1, CD36
49weissenbacher-zweym√ľller syndrome10.2COL11A2, COL2A1
50breast cancer10.2

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



Diseases related to multiple epiphyseal dysplasia

Symptoms for Multiple Epiphyseal Dysplasia

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Symptoms by clinical synopsis from OMIM:

132400

Clinical features from OMIM:

132400,600204,600969,614135,226900,607078

Symptoms:

48 (show all 20)
  • epiphyseal anomaly
  • osteoarthritis
  • autosomal dominant inheritance
  • short limbs/micromelia/brachymelia
  • abnormal gait
  • articular/joint pain/arthralgia
  • restricted joint mobility/joint stiffness/ankylosis
  • joint/articular deformation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • short stature/dwarfism/nanism
  • genu valgum
  • genu varum
  • autosomal recessive inheritance
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • scoliosis
  • clinodactyly of fifth finger
  • patella absent/abnormal (excluding luxation)
  • talipes-varus/metatarsal varus
  • anomalies of ear and hearing
  • short hand/brachydactyly

HPO human phenotypes related to Multiple Epiphyseal Dysplasia:

(show all 132)
id Description Frequency HPO Source Accession
1 osteoarthritis hallmark (90%) HP:0002758
2 abnormality of the epiphyses hallmark (90%) HP:0005930
3 round face hallmark (90%) HP:0000311
4 sensorineural hearing impairment hallmark (90%) HP:0000407
5 anteverted nares hallmark (90%) HP:0000463
6 myopia hallmark (90%) HP:0000545
7 abnormality of the metaphyses hallmark (90%) HP:0000944
8 brachydactyly syndrome hallmark (90%) HP:0001156
9 limitation of joint mobility hallmark (90%) HP:0001376
10 delayed skeletal maturation hallmark (90%) HP:0002750
11 abnormality of the ulna hallmark (90%) HP:0002997
12 abnormality of the wrist hallmark (90%) HP:0003019
13 abnormal cortical bone morphology hallmark (90%) HP:0003103
14 short palm hallmark (90%) HP:0004279
15 abnormality of the epiphyses hallmark (90%) HP:0005930
16 tarsal synostosis hallmark (90%) HP:0008368
17 aplasia/hypoplasia of the sacrum hallmark (90%) HP:0008517
18 rough bone trabeculation hallmark (90%) HP:0100670
19 osteoarthritis hallmark (90%) HP:0002758
20 abnormality of the epiphyses hallmark (90%) HP:0005930
21 osteoarthritis hallmark (90%) HP:0002758
22 abnormality of the epiphyses hallmark (90%) HP:0005930
23 osteoarthritis hallmark (90%) HP:0002758
24 abnormality of the epiphyses hallmark (90%) HP:0005930
25 gait disturbance typical (50%) HP:0001288
26 limitation of joint mobility typical (50%) HP:0001376
27 arthralgia typical (50%) HP:0002829
28 micromelia typical (50%) HP:0002983
29 abnormality of the hip bone typical (50%) HP:0003272
30 short stature typical (50%) HP:0004322
31 malar flattening typical (50%) HP:0000272
32 abnormality of the femur typical (50%) HP:0002823
33 abnormal form of the vertebral bodies typical (50%) HP:0003312
34 short stature typical (50%) HP:0004322
35 cleft palate typical (50%) HP:0000175
36 talipes typical (50%) HP:0001883
37 scoliosis typical (50%) HP:0002650
38 arthralgia typical (50%) HP:0002829
39 clinodactyly of the 5th finger typical (50%) HP:0004209
40 patellar aplasia typical (50%) HP:0006443
41 brachydactyly syndrome typical (50%) HP:0001156
42 gait disturbance typical (50%) HP:0001288
43 limitation of joint mobility typical (50%) HP:0001376
44 arthralgia typical (50%) HP:0002829
45 micromelia typical (50%) HP:0002983
46 abnormality of the hip bone typical (50%) HP:0003272
47 short stature typical (50%) HP:0004322
48 gait disturbance typical (50%) HP:0001288
49 limitation of joint mobility typical (50%) HP:0001376
50 arthralgia typical (50%) HP:0002829
51 micromelia typical (50%) HP:0002983
52 abnormality of the hip bone typical (50%) HP:0003272
53 short stature typical (50%) HP:0004322
54 genu valgum occasional (7.5%) HP:0002857
55 genu varum occasional (7.5%) HP:0002970
56 anonychia occasional (7.5%) HP:0001798
57 micromelia occasional (7.5%) HP:0002983
58 abnormality of the hip bone occasional (7.5%) HP:0003272
59 hearing abnormality occasional (7.5%) HP:0000364
60 short stature occasional (7.5%) HP:0004322
61 genu valgum occasional (7.5%) HP:0002857
62 genu varum occasional (7.5%) HP:0002970
63 genu valgum occasional (7.5%) HP:0002857
64 genu varum occasional (7.5%) HP:0002970
65 autosomal dominant inheritance HP:0000006
66 joint stiffness HP:0001387
67 waddling gait HP:0002515
68 epiphyseal dysplasia HP:0002656
69 delayed epiphyseal ossification HP:0002663
70 generalized joint laxity HP:0002761
71 genu valgum HP:0002857
72 ovoid vertebral bodies HP:0003300
73 irregular vertebral endplates HP:0003301
74 mild short stature HP:0003502
75 avascular necrosis of the capital femoral epiphysis HP:0005743
76 broad femoral neck HP:0006429
77 limited hip movement HP:0008800
78 hip osteoarthritis HP:0008843
79 disproportionate short-limb short stature HP:0008873
80 short phalanx of finger HP:0009803
81 short metacarpal HP:0010049
82 irregular epiphyses HP:0010582
83 small epiphyses HP:0010585
84 short femoral neck HP:0100864
85 autosomal recessive inheritance HP:0000007
86 brachydactyly syndrome HP:0001156
87 hip dysplasia HP:0001385
88 talipes equinovarus HP:0001762
89 scoliosis HP:0002650
90 multiple epiphyseal dysplasia HP:0002654
91 arthralgia HP:0002829
92 flat capital femoral epiphysis HP:0003370
93 short stature HP:0004322
94 limited elbow flexion HP:0006376
95 hypoplasia of the femoral head HP:0008802
96 short metacarpal HP:0010049
97 autosomal dominant inheritance HP:0000006
98 waddling gait HP:0002515
99 epiphyseal dysplasia HP:0002656
100 genu varum HP:0002970
101 flattened epiphyses HP:0003071
102 mild short stature HP:0003502
103 short palm HP:0004279
104 knee osteoarthritis HP:0005086
105 irregular epiphyses HP:0010582
106 autosomal dominant inheritance HP:0000006
107 abnormality of the hip joint HP:0001384
108 epiphyseal dysplasia HP:0002656
109 delayed epiphyseal ossification HP:0002663
110 osteoarthritis HP:0002758
111 elevated serum creatine phosphokinase HP:0003236
112 mild short stature HP:0003502
113 proximal muscle weakness HP:0003701
114 short metacarpal HP:0010049
115 irregular epiphyses HP:0010582
116 small epiphyses HP:0010585
117 autosomal dominant inheritance HP:0000006
118 delayed ossification of carpal bones HP:0001216
119 multiple epiphyseal dysplasia HP:0002654
120 epiphyseal dysplasia HP:0002656
121 coxa vara HP:0002812
122 arthralgia HP:0002829
123 genu valgum HP:0002857
124 metaphyseal irregularity HP:0003025
125 premature osteoarthritis HP:0003088
126 hypoplasia of the capital femoral epiphysis HP:0003090
127 arthralgia of the hip HP:0003365
128 broad femoral neck HP:0006429
129 delayed tarsal ossification HP:0008103
130 irregular epiphyses HP:0010582
131 small epiphyses HP:0010585
132 short femoral neck HP:0100864

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Multiple Epiphyseal Dysplasia

Search NIH Clinical Center for Multiple Epiphyseal Dysplasia

Genetic Tests for Multiple Epiphyseal Dysplasia

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Anatomical Context for Multiple Epiphyseal Dysplasia

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MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

32
Bone, Heart, Testes

FMA organs/tissues related to Multiple Epiphyseal Dysplasia:

14
Hip or

Animal Models for Multiple Epiphyseal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5ACAN, COL11A2, COL11A1, COL2A1, COL9A1
2MP:00053698.2CD36, KIF7, COMP, ACAN, DCN
3MP:00053888.2DCN, ACAN, COL11A1, COL2A1, KIF7
4MP:00053718.0ACAN, COMP, COL11A1, COL2A1, COL9A1, MATN3
5MP:00053917.8DCN, COL2A1, COL9A1, KIF7, CD36
6MP:00053827.7DCN, ACAN, COL11A2, COL11A1, COL2A1, KIF7
7MP:00053817.5DCN, ACAN, COL11A1, COL2A1, KIF7, CD36
8MP:00053787.2DCN, ACAN, COL11A2, COMP, COL2A1, MATN3
9MP:00053877.2DCN, ACAN, COMP, COL11A1, COL2A1, COL9A1
10MP:00053906.2SLC26A2, DCN, ACAN, COL11A2, COMP, COL11A1

Publications for Multiple Epiphyseal Dysplasia

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Articles related to Multiple Epiphyseal Dysplasia:

(show top 50)    (show all 160)
idTitleAuthorsYear
1
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report. (25381065)
2014
2
Assessment of skeletal age in multiple epiphyseal dysplasia. (25210941)
2014
3
Multiple epiphyseal dysplasia. (24640208)
2013
4
Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia. (22948526)
2012
5
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. (21204225)
2011
6
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. (20358595)
2010
7
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. (20592910)
2010
8
Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis. (20357323)
2010
9
Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia. (19098647)
2009
10
Five patients in a Chinese family with multiple epiphyseal dysplasia. (19781400)
2009
11
Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia]. (18487141)
2008
12
What is your diagnosis? Multiple epiphyseal dysplasia. (19180712)
2008
13
An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia. (18338162)
2008
14
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. (18328978)
2008
15
Clinical, radiographic, and pathologic abnormalities in dogs with multiple epiphyseal dysplasia: 19 cases (1991-2005). (18710316)
2008
16
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. (15503005)
2005
17
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. (15756302)
2005
18
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. (15459972)
2004
19
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
20
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. (11528506)
2001
21
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. (10655510)
2000
22
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. (10465113)
1999
23
Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis. (9449113)
1998
24
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. (9921895)
1998
25
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
26
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). (8528240)
1996
27
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. (7942845)
1994
28
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. (8279467)
1994
29
Multiple Epiphyseal Dysplasia, Recessive (20301483)
1993
30
Multiple Epiphyseal Dysplasia, Dominant (20301302)
1993
31
Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. (8465858)
1993
32
Early diagnosis of multiple epiphyseal dysplasia. (1552030)
1992
33
A case of multiple epiphyseal dysplasia complicated by unilateral Perthes' disease. (1767660)
1991
34
Multiple epiphyseal dysplasia misdiagnosed as bioinactive growth hormone disorder. (1925729)
1991
35
Avascular necrosis of the hip in multiple epiphyseal dysplasia. (2600173)
1989
36
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
37
Findings at arthrotomy in a case of double layered patellae associated with multiple epiphyseal dysplasia. (7076836)
1982
38
Os trigonum syndrome in a patient with multiple epiphyseal dysplasia. (7186916)
1982
39
Bilateral femoral head collapse in an adolescent with brachydactyly (multiple epiphyseal dysplasia tarda type 1c). (7334105)
1981
40
Multiple epiphyseal dysplasia: a family study. (515629)
1979
41
Multiple epiphyseal dysplasia. (730283)
1978
42
Multiple epiphyseal dysplasia and Turner syndrome variant (45,XO/46,X ring) associated with advanced maternal age. (890113)
1977
43
Probable multiple epiphyseal dysplasia. (4461073)
1974
44
Osteoarthrosis of the hip joints in multiple epiphyseal dysplasia. (4534821)
1974
45
Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. (5008828)
1972
46
Multiple epiphyseal dysplasia in a litter of Beagle puppies. (4994640)
1971
47
Multiple epiphyseal dysplasia: a report of three cases. (5151277)
1971
48
Multiple epiphyseal dysplasia. Three cases with unusual vertebral abnormalities. (5801124)
1969
49
Multiple epiphyseal dysplasia in two siblings. Histological and biochemical analyses of epiphyseal plate cartilage in one. (4229795)
1967
50
Multiple epiphyseal dysplasia; a report of three cases. (13527648)
1958

Variations for Multiple Epiphyseal Dysplasia

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

64 (show all 48)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp342TyrVAR_007617
2COMPp.Asp361ValVAR_007619
3COMPp.Asp361TyrVAR_007620
4COMPp.Cys371SerVAR_007622
5COMPp.Asp408TyrVAR_007627
6COMPp.Asn453SerVAR_007630rs28936668
7COMPp.Asn523LysVAR_007640
8COMPp.Thr585ArgVAR_007642
9COMPp.Pro276ArgVAR_026239
10COMPp.Asp420AlaVAR_026240
11COMPp.Gly167GluVAR_066789
12COMPp.Ser298LeuVAR_066792
13COMPp.Ala311AspVAR_066793
14COMPp.Asp317GlyVAR_066794
15COMPp.Asp326GlyVAR_066795
16COMPp.Cys348PheVAR_066798
17COMPp.Cys371TyrVAR_066800
18COMPp.Asp374AsnVAR_066801
19COMPp.Asp376AsnVAR_066802
20COMPp.Asp385AsnVAR_066804
21COMPp.Asp385TyrVAR_066805
22COMPp.Asp397HisVAR_066808
23COMPp.Gly404ArgVAR_066810
24COMPp.Cys410TyrVAR_066811
25COMPp.Asn415LysVAR_066812
26COMPp.Gly427GluVAR_066813
27COMPp.Gly501AspVAR_066821
28COMPp.Arg718ProVAR_066826
29COMPp.Arg718TrpVAR_066827rs28936368
30MATN3p.Arg121TrpVAR_013691
31MATN3p.Val194AspVAR_013692
32MATN3p.Thr120MetVAR_019882
33MATN3p.Ala128ProVAR_019883
34MATN3p.Glu134LysVAR_019884
35MATN3p.Ile192AsnVAR_019885
36MATN3p.Ala219AspVAR_019886rs28939677
37MATN3p.Phe105SerVAR_020844
38MATN3p.Arg70HisVAR_054807
39MATN3p.Thr195LysVAR_054808
40MATN3p.Tyr218AsnVAR_054809
41MATN3p.Ala173AspVAR_066831
42MATN3p.Arg209ProVAR_066832
43MATN3p.Lys231AsnVAR_066833
44MATN3p.Val245MetVAR_066834rs182164052
45SLC26A2p.Arg279TrpVAR_007435rs104893915
46SLC26A2p.Ala715ValVAR_007439
47SLC26A2p.Cys653SerVAR_018655
48SLC26A2p.Phe256SerVAR_066835

Clinvar genetic disease variations for Multiple Epiphyseal Dysplasia:

6 (show all 23)
id Gene Name Type Significance SNP ID Assembly Location
1COL9A3COL9A3, IVS2AS, A-T, -2single nucleotide variantPathogenic
2COL9A3COL9A3, IVS3DS, G-A, +5single nucleotide variantPathogenic
3COL9A2COL9A2, IVS3DS, T-C, +2single nucleotide variantPathogenic
4COL9A2COL9A2, IVS3DS, 186G-Asingle nucleotide variantPathogenic
5COL9A2COL9A2, IVS3DS, G-C, +5single nucleotide variantPathogenic
6COL9A2COL9A2, IVS3DS, G-C, -1single nucleotide variantPathogenic
7SLC26A2NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp)single nucleotide variantPathogenicrs104893915GRCh37Chr 5, 149359991: 149359991
8SLC26A2NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser)single nucleotide variantPathogenicrs104893924GRCh37Chr 5, 149361113: 149361113
9COMPNM_000095.2(COMP): c.1754C> G (p.Thr585Arg)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
10COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
11COMPNM_000095.2(COMP): c.1156_1158delAAC (p.Asn386del)deletionPathogenicrs397515510GRCh37Chr 19, 18897438: 18897440
12COMPNM_000095.2(COMP): c.1665C> A (p.Asn555Lys)single nucleotide variantPathogenicrs397515511GRCh37Chr 19, 18896486: 18896486
13COMPNM_000095.2(COMP): c.1813G> A (p.Asp605Asn)single nucleotide variantPathogenicrs397515512GRCh37Chr 19, 18895807: 18895807
14COMPNM_000095.2(COMP): c.2042C> G (p.Ser681Cys)single nucleotide variantPathogenicrs397515513GRCh37Chr 19, 18895046: 18895046
15COMPNM_000095.2(COMP): c.2153G> C (p.Arg718Pro)single nucleotide variantPathogenicrs149551600GRCh37Chr 19, 18893938: 18893938
16MATN3NM_002381.4(MATN3): c.359C> T (p.Thr120Met)single nucleotide variantPathogenicrs397515546GRCh37Chr 2, 20205936: 20205936
17MATN3NM_002381.4(MATN3): c.581T> A (p.Val194Asp)single nucleotide variantPathogenicrs104893645GRCh37Chr 2, 20205714: 20205714
18MATN3NM_002381.4(MATN3): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs104893637GRCh37Chr 2, 20205934: 20205934
19MATN3NM_002381.4(MATN3): c.656C> A (p.Ala219Asp)single nucleotide variantPathogenicrs28939677GRCh37Chr 2, 20205639: 20205639
20MATN3NM_002381.4(MATN3): c.209G> A (p.Arg70His)single nucleotide variantPathogenicrs104893640GRCh37Chr 2, 20212184: 20212184
21MATN3NM_002381.4(MATN3): c.382G> C (p.Ala128Pro)single nucleotide variantPathogenicrs104893641GRCh37Chr 2, 20205913: 20205913
22COMPNM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896859
23COMPNM_000095.2(COMP): c.2152C> T (p.Arg718Trp)single nucleotide variantPathogenicrs28936368GRCh37Chr 19, 18893939: 18893939

Expression for genes affiliated with Multiple Epiphyseal Dysplasia

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Expression patterns in normal tissues for genes affiliated with Multiple Epiphyseal Dysplasia

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

Pathways for genes affiliated with Multiple Epiphyseal Dysplasia

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Pathways related to Multiple Epiphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9COL9A1, COL9A3
2
Show member pathways
9.7COL9A2, COL9A3, COL9A1
39.4CD36, COMP
49.4COL9A1, COL9A3, COL9A2, COMP
5
Show member pathways
9.4SLC26A2, ACAN, DCN
69.0COL11A2, COL11A1, COL2A1
79.0DCN, ACAN, COMP, COL2A1
8
Show member pathways
8.8COL9A2, COL9A3, COL9A1, CD36
98.8COL2A1, COL11A1, COMP, COL11A2
108.3DCN, ACAN, COMP, COL9A2, COL9A3, COL9A1
11
Show member pathways
8.2COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
128.2COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
13
Show member pathways
8.2COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
14
Show member pathways
8.2COL9A1, COL9A3, COL2A1, COL11A1, COL9A2, COL11A2
15
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
8.0COL11A2, COMP, COL11A1, COL2A1, CD36
16
Show member pathways
7.4COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
17
Show member pathways
6.9MATN3, DCN, ACAN, COL9A1, COL9A3, COL2A1

Compounds for genes affiliated with Multiple Epiphyseal Dysplasia

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 28IUPHAR
See all sources

Compounds related to Multiple Epiphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1pentosidine449.9ACAN, COMP, COL2A1
2neurocan449.8ACAN, DCN
3dermatan44 2410.8ACAN, DCN
4safranin o449.6ACAN, CD36
5polyglycolic acid449.5ACAN, CD36
6chitosan449.4CD36, ACAN
7deoxypyridinoline449.4CD36, COMP
8pyridinoline449.4COMP, COL2A1, CD36
9chondroitin44 2410.3ACAN, DCN
10agarose449.3DCN, ACAN, COMP, COL2A1
11dermatan sulfate449.2CD36, COMP, DCN
12titanium449.2DCN, CD36
13sulfate44 2410.1DCN, ACAN, COMP, COL2A1, SLC26A2
14hydroxyproline44 24 1111.1CD36, COL2A1, DCN
15vitamin d449.0CD36, COL2A1, COMP, ACAN
16ascorbic acid44 2410.0CD36, COL2A1, ACAN
17keratan sulfate448.9DCN, ACAN, COMP, CD36
18chondroitin sulfate44 249.9CD36, COMP, ACAN, DCN
19tgf beta1448.9CD36, COMP, ACAN, DCN
20hyaluronic acid44 249.9DCN, ACAN, COMP, CD36
21oligonucleotide448.6DCN, COMP, COL11A1, COL2A1
22alginate448.6CD36, COL2A1, COMP, ACAN, DCN
23procollagen448.6DCN, ACAN, COMP, COL2A1, CD36
24glycosaminoglycan448.6CD36, COL2A1, COMP, ACAN, DCN
25cysteine448.5DCN, COMP, COL2A1, CD36, SLC26A2
26retinoic acid44 249.4CD36, COL2A1, COMP, ACAN, DCN
27dexamethasone44 50 28 1111.4DCN, ACAN, COL2A1, CD36, SLC26A2

GO Terms for genes affiliated with Multiple Epiphyseal Dysplasia

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Cellular components related to Multiple Epiphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.7MATN3, COMP, ACAN
2collagen type IXGO:0055949.7COL9A1, COL9A3, COL9A2
3collagen type XIGO:0055929.3COL11A2, COL11A1
4extracellular matrixGO:0310129.1COMP, ACAN, DCN
5endoplasmic reticulum lumenGO:0057888.3COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
6extracellular regionGO:0055767.0MATN3, DCN, ACAN, COL11A2, COMP, COL9A2

Biological processes related to Multiple Epiphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1growth plate cartilage developmentGO:00341710.1COMP, COL9A1
2organ morphogenesisGO:0098879.6COL9A1, COMP, DCN
3proteoglycan metabolic processGO:0060299.5COL2A1, COL11A1
4tissue homeostasisGO:0018949.5COL9A1, COL2A1
5cartilage condensationGO:0015029.5COL2A1, COL11A1
6axon guidanceGO:0074119.4COL9A2, COL2A1, COL9A3, COL9A1
7glycosaminoglycan metabolic processGO:0302039.4SLC26A2, ACAN, DCN
8collagen fibril organizationGO:0301999.2COL2A1, COL11A1, COL11A2
9sensory perception of soundGO:0076058.9COL11A2, COL11A1, COL2A1
10skeletal system developmentGO:0015018.8ACAN, COL11A2, COMP, COL9A2, COL2A1, MATN3
11collagen catabolic processGO:0305748.4COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
12extracellular matrix disassemblyGO:0226177.6DCN, ACAN, COL11A2, COL9A2, COL11A1, COL2A1
13extracellular matrix organizationGO:0301987.2MATN3, DCN, ACAN, COL9A1, COL9A3, COL2A1

Molecular functions related to Multiple Epiphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:0508409.3COL11A1, DCN
2extracellular matrix structural constituentGO:0052018.8ACAN, COMP, COL11A1, MATN3
3extracellular matrix structural constituent conferring tensile strengthGO:0300208.7COL9A1, COL9A3, COL2A1, COL9A2, COL11A2

Products for genes affiliated with Multiple Epiphyseal Dysplasia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Multiple Epiphyseal Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet