EDMMD
MCID: EPP022
MIFTS: 25

Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (EDMMD)

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:

Name: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 58 30 6 74
Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 58 13
Edmmd 58 76
Multiple Epiphyseal Dysplasia with Myopia and Conductive Deafness 76
Dysplasia, Epiphyseal, Multiple, with Myopia and Deafness 41
Multiple Epiphyseal Dysplasia-Myopia-Deafness Syndrome 60
Multiple Epiphyseal Dysplasia, Beighton Type 60

Characteristics:

Orphanet epidemiological data:

60
multiple epiphyseal dysplasia, beighton type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on 4 patients in one family


HPO:

33
epiphyseal dysplasia, multiple, with myopia and conductive deafness:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 132450
MeSH 45 D010009
ICD10 via Orphanet 35 Q77.3
UMLS via Orphanet 75 C1851536
Orphanet 60 ORPHA166011
MedGen 43 C1851536
UMLS 74 C1851536

Summaries for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

UniProtKB/Swiss-Prot : 76 Multiple epiphyseal dysplasia with myopia and conductive deafness: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDMMD is an autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness, also known as epiphyseal dysplasia, multiple, with myopia and deafness, is related to spondyloperipheral dysplasia and osteoarthritis with mild chondrodysplasia. An important gene associated with Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone and eye, and related phenotypes are genu valgum and epiphyseal dysplasia

Description from OMIM: 132450

Related Diseases for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

Diseases related to Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloperipheral dysplasia 9.7 COL2A1 LOC105369752
2 osteoarthritis with mild chondrodysplasia 9.7 COL2A1 LOC105369752
3 achondrogenesis, type ii 9.6 COL2A1 LOC105369752
4 hypochondrogenesis 9.5 COL2A1 LOC105369752

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

Human phenotypes related to Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857
2 epiphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002656
3 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
4 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
5 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
6 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
7 conductive hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000405
8 round face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000311
9 anonychia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001798
10 retinal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007973
11 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
12 short stature 33 HP:0004322
13 coxa valga 33 HP:0002673
14 brachydactyly 33 HP:0001156
15 retinal thinning 33 HP:0030329
16 short phalanx of finger 33 HP:0009803
17 asteroid hyalosis 33 HP:0030672

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Head And Neck Face:
flat face
round face

Head And Neck Eyes:
retinal thinning
myopia, progressive, early onset
asteroid hyalosis
cataracts, crenated

Head And Neck Ears:
deafness, conductive

Skeletal Spine:
shortened vertebral bodies, mild

Skeletal Limbs:
flattened epiphyses around knee joint
genu valgus

Skeletal:
epiphyseal dysplasia

Skeletal Hands:
brachydactyly
short phalanges

Head And Neck Mouth:
small mouth

Head And Neck Nose:
snub nose

Skeletal Pelvis:
coxa valga deformity

Clinical features from OMIM:

132450

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness

Genetic Tests for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

Genetic tests related to Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:

# Genetic test Affiliating Genes
1 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 30 COL2A1

Anatomical Context for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:

42
Bone, Eye

Publications for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

Articles related to Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:

# Title Authors Year
1
Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. ( 9800905 )
1998

Variations for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:

76
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Arg904Cys VAR_017645 rs121912882

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh37 Chromosome 12, 48372112: 48372112
2 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh38 Chromosome 12, 47978329: 47978329
3 COL2A1 NM_033150.2(COL2A1): c.2503C> T (p.Arg835Cys) single nucleotide variant Pathogenic rs121912882 GRCh37 Chromosome 12, 48373317: 48373317
4 COL2A1 NM_033150.2(COL2A1): c.2503C> T (p.Arg835Cys) single nucleotide variant Pathogenic rs121912882 GRCh38 Chromosome 12, 47979534: 47979534
5 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh37 Chromosome 12, 48377504: 48377504
6 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh38 Chromosome 12, 47983721: 47983721
7 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh37 Chromosome 12, 48393736: 48393736
8 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh38 Chromosome 12, 47999953: 47999953
9 COL2A1 NM_001844.4(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 GRCh37 Chromosome 12, 48388220: 48388220
10 COL2A1 NM_001844.4(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 GRCh38 Chromosome 12, 47994437: 47994437
11 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
12 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh38 Chromosome 12, 47980561: 47980561

Expression for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness.

Pathways for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

GO Terms for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

Sources for Epiphyseal Dysplasia, Multiple, with Myopia and Conductive...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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