EDMMD
MCID: EPP022
MIFTS: 26

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 57 29 6 73
Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 57 13
Edmmd 57 75
Multiple Epiphyseal Dysplasia with Myopia and Conductive Deafness 75
Dysplasia, Epiphyseal, Multiple, with Myopia and Deafness 40
Multiple Epiphyseal Dysplasia-Myopia-Deafness Syndrome 59
Multiple Epiphyseal Dysplasia, Beighton Type 59

Characteristics:

Orphanet epidemiological data:

59
multiple epiphyseal dysplasia, beighton type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on 4 patients in one family


HPO:

32
epiphyseal dysplasia, multiple, with myopia and conductive deafness:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 132450
Orphanet 59 ORPHA166011
ICD10 via Orphanet 34 Q77.3
UMLS via Orphanet 74 C1851536
MedGen 42 C1851536
MeSH 44 D010009
UMLS 73 C1851536

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

UniProtKB/Swiss-Prot : 75 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 cataract

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 9.8 COL2A1 LOC105369752
2 osteoarthritis with mild chondrodysplasia 9.8 COL2A1 LOC105369752
3 achondrogenesis, type ii 9.8 COL2A1 LOC105369752
4 hypochondrogenesis 9.7 COL2A1 LOC105369752

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
2 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
3 epiphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002656
4 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
5 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
6 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
7 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
8 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
9 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
10 anonychia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001798
11 retinal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007973
12 short stature 32 HP:0004322
13 coxa valga 32 HP:0002673
14 brachydactyly 32 HP:0001156
15 retinal thinning 32 HP:0030329
16 short phalanx of finger 32 HP:0009803
17 asteroid hyalosis 32 HP:0030672

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 29 COL2A1

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

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

41
Bone, Eye

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

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

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

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_033150.2(COL2A1): c.2503C> T (p.Arg835Cys) single nucleotide variant Pathogenic rs121912882 GRCh37 Chromosome 12, 48373317: 48373317
2 COL2A1 NM_033150.2(COL2A1): c.2503C> T (p.Arg835Cys) single nucleotide variant Pathogenic rs121912882 GRCh38 Chromosome 12, 47979534: 47979534
3 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
4 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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