EDM6
MCID: EPP009
MIFTS: 35

Epiphyseal Dysplasia, Multiple, 6 (EDM6)

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 6

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 6:

Name: Epiphyseal Dysplasia, Multiple, 6 57 13 70
Multiple Epiphyseal Dysplasia 6 12 20 72 29 6 15
Edm6 57 12 72
Dysplasia, Epiphyseal, Multiple, Type 6 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
med is a heterogeneous disorder (see med1 , med2 , med3 , med4 , med5 , and med with diabetes mellitus )


HPO:

31
epiphyseal dysplasia, multiple, 6:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070301
OMIM® 57 614135
OMIM Phenotypic Series 57 PS132400
MeSH 44 D010009
UMLS 70 C2675767

Summaries for Epiphyseal Dysplasia, Multiple, 6

UniProtKB/Swiss-Prot : 72 Multiple epiphyseal dysplasia 6: 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, 6, also known as multiple epiphyseal dysplasia 6, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive and back pain, and has symptoms including hip pain and knee pain. An important gene associated with Epiphyseal Dysplasia, Multiple, 6 is COL9A1 (Collagen Type IX Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Related phenotypes are epiphyseal dysplasia and arthralgia

Disease Ontology : 12 A multiple epiphyseal dysplasia due to collagen 9 anomaly that has material basis in heterozygous mutation in the COL9A1 gene on chromosome 6p13.

More information from OMIM: 614135 PS132400

Related Diseases for Epiphyseal Dysplasia, Multiple, 6

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL9A2 COL9A1
2 back pain 10.0 COL9A3 COL9A2
3 bone deterioration disease 9.9 COL9A3 COL9A2
4 intervertebral disc disease 9.9 COL9A3 COL9A2
5 bone structure disease 9.9 COL9A3 COL9A2
6 campomelic dysplasia 9.9 COL9A2 COL9A1
7 fibrochondrogenesis 9.8 COL9A3 COL9A2 COL9A1
8 autosomal recessive stickler syndrome 9.8 COL9A3 COL9A2 COL9A1
9 vitreous syneresis 9.8 COL9A3 COL9A2 COL9A1
10 kniest dysplasia 9.8 COL9A3 COL9A2 COL9A1
11 marshall syndrome 9.8 COL9A3 COL9A2 COL9A1
12 spinal stenosis 9.8 COL9A3 COL9A2 COL9A1
13 retinal detachment 9.7 COL9A3 COL9A2 COL9A1
14 skeletal dysplasias 9.7 SLC26A2 MATN3
15 legg-calve-perthes disease 9.7 SLC26A2 MATN3
16 clubfoot 9.5 SLC26A2 COL9A1
17 otosclerosis 9.5 SLC26A2 MATN3
18 achondrogenesis, type ii 9.5 SLC26A2 MATN3 COL9A1
19 multiple epiphyseal dysplasia, autosomal dominant 9.5 MATN3 COL9A3 COL9A2 COL9A1
20 fibrochondrogenesis 1 9.5 MATN3 COL9A3 COL9A2 COL9A1
21 spondyloepiphyseal dysplasia congenita 9.5 MATN3 COL9A3 COL9A2 COL9A1
22 osteochondrosis 9.5 MATN3 COL9A3 COL9A2 COL9A1
23 osteochondritis dissecans 9.5 MATN3 COL9A3 COL9A2 COL9A1
24 stickler syndrome 9.5 MATN3 COL9A3 COL9A2 COL9A1
25 atelosteogenesis 9.4 SLC26A2 COL9A3 COL9A2 COL9A1
26 spondyloepiphyseal dysplasia with congenital joint dislocations 9.3 SLC26A2 COL9A3 COL9A2 COL9A1
27 hypochondrogenesis 9.3 SLC26A2 MATN3 COL9A2 COL9A1
28 epiphyseal dysplasia, multiple, 5 9.1 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
29 epiphyseal dysplasia, multiple, 3 9.1 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
30 epiphyseal dysplasia, multiple, 2 9.1 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
31 achondrogenesis, type ib 9.1 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
32 achondrogenesis 9.1 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
33 epiphyseal dysplasia, multiple, 1 9.1 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
34 epiphyseal dysplasia, multiple, 4 9.0 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
35 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.0 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
36 multiple epiphyseal dysplasia 9.0 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
37 diastrophic dysplasia 9.0 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
38 pseudoachondroplasia 9.0 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
39 bone development disease 9.0 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
40 odontochondrodysplasia 9.0 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 6:



Diseases related to Epiphyseal Dysplasia, Multiple, 6

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 6

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 6:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 epiphyseal dysplasia 31 HP:0002656
2 arthralgia 31 HP:0002829
3 osteoarthritis 31 HP:0002758
4 abnormality of the knee 31 HP:0002815
5 multiple epiphyseal dysplasia 31 HP:0002654
6 irregular vertebral endplates 31 HP:0003301
7 irregular epiphyses 31 HP:0010582
8 flat capital femoral epiphysis 31 HP:0003370
9 small epiphyses 31 HP:0010585
10 arthralgia of the hip 31 HP:0003365
11 irregular distal femoral epiphysis 31 HP:0006407
12 schmorl's node 31 HP:0030041
13 flat distal femoral epiphysis 31 HP:0006398

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
multiple epiphyseal dysplasia
early onset osteoarthritis

Skeletal Pelvis:
hip arthralgia

Skeletal Spine:
schmorl's nodes
endplate irregularities (thoracic-lumbar vertebrae)
anterior osteophytes (thoracic-lumbar vertebrae)

Skeletal Limbs:
knee arthralgia
irregular epiphyses (knee)

Clinical features from OMIM®:

614135 (Updated 05-Apr-2021)

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 6:


hip pain; knee pain

GenomeRNAi Phenotypes related to Epiphyseal Dysplasia, Multiple, 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.92 COL9A1 COL9A2 COL9A3 MATN4

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 COL9A1 COL9A2 MATN3 SLC26A2

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 6

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 6

Genetic Tests for Epiphyseal Dysplasia, Multiple, 6

Genetic tests related to Epiphyseal Dysplasia, Multiple, 6:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 6 29 COL9A1

Anatomical Context for Epiphyseal Dysplasia, Multiple, 6

Publications for Epiphyseal Dysplasia, Multiple, 6

Articles related to Epiphyseal Dysplasia, Multiple, 6:

# Title Authors PMID Year
1
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 57 6
11565064 2001

Variations for Epiphyseal Dysplasia, Multiple, 6

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL9A1 NM_001851.5(COL9A1):c.876+2dup Duplication Pathogenic 17194 rs672601329 GRCh37: 6:70991090-70991091
GRCh38: 6:70281387-70281388
2 COL9A1 NM_001851.5(COL9A1):c.876+2T>A SNV Pathogenic 374336 rs149830493 GRCh37: 6:70991091-70991091
GRCh38: 6:70281388-70281388
3 COL9A1 NM_001851.5(COL9A1):c.626G>A (p.Arg209Lys) SNV Uncertain significance 499848 rs571441243 GRCh37: 6:71003940-71003940
GRCh38: 6:70294237-70294237
4 COL9A1 NM_001851.5(COL9A1):c.1634G>A (p.Arg545His) SNV Uncertain significance 282983 rs145698301 GRCh37: 6:70964697-70964697
GRCh38: 6:70254994-70254994
5 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain significance 547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
6 COL9A1 NM_001851.5(COL9A1):c.353G>A (p.Arg118Gln) SNV Uncertain significance 449774 rs143848379 GRCh37: 6:71004213-71004213
GRCh38: 6:70294510-70294510
7 COL9A1 NM_001851.5(COL9A1):c.1349A>G (p.Glu450Gly) SNV Likely benign 194938 rs77706858 GRCh37: 6:70972993-70972993
GRCh38: 6:70263290-70263290
8 COL9A1 NM_001851.5(COL9A1):c.1015T>C (p.Ser339Pro) SNV Benign 258335 rs592121 GRCh37: 6:70984436-70984436
GRCh38: 6:70274733-70274733

Expression for Epiphyseal Dysplasia, Multiple, 6

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 6.

Pathways for Epiphyseal Dysplasia, Multiple, 6

Pathways related to Epiphyseal Dysplasia, Multiple, 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 COL9A3 COL9A2 COL9A1
2
Show member pathways
12.47 COL9A3 COL9A2 COL9A1
3
Show member pathways
12.38 COL9A3 COL9A2 COL9A1
4
Show member pathways
12.28 COL9A3 COL9A2 COL9A1
5
Show member pathways
12.01 MATN4 MATN3 COL9A3 COL9A2 COL9A1
6
Show member pathways
11.63 COL9A3 COL9A2 COL9A1
7 10.9 COL9A3 COL9A2 COL9A1
8 10.84 COL9A3 COL9A1
9 10.78 MATN4 MATN3 COL9A3 COL9A2 COL9A1
10 10.48 COL9A3 COL9A2 COL9A1

GO Terms for Epiphyseal Dysplasia, Multiple, 6

Cellular components related to Epiphyseal Dysplasia, Multiple, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.77 MATN4 MATN3 COL9A3 COL9A2 COL9A1
2 endoplasmic reticulum lumen GO:0005788 9.56 MATN3 COL9A3 COL9A2 COL9A1
3 collagen trimer GO:0005581 9.5 COL9A3 COL9A2 COL9A1
4 extracellular matrix GO:0031012 9.46 MATN3 COL9A3 COL9A2 COL9A1
5 basement membrane GO:0005604 9.4 COL9A3 COL9A1
6 collagen-containing extracellular matrix GO:0062023 9.35 MATN4 MATN3 COL9A3 COL9A2 COL9A1
7 collagen type IX trimer GO:0005594 8.8 COL9A3 COL9A2 COL9A1

Biological processes related to Epiphyseal Dysplasia, Multiple, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.02 MATN4 MATN3 COL9A3 COL9A2 COL9A1
2 skeletal system development GO:0001501 8.96 MATN3 COL9A2

Molecular functions related to Epiphyseal Dysplasia, Multiple, 6 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 8.92 MATN3 COL9A3 COL9A2 COL9A1

Sources for Epiphyseal Dysplasia, Multiple, 6

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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