EDMMD
MCID: EPP022
MIFTS: 31

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 56 29 6 43 71
Edmmd 56 12 73
Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 56 13
Multiple Epiphyseal Dysplasia with Myopia and Deafness 12 15
Multiple Epiphyseal Dysplasia-Myopia-Deafness Syndrome 12 58
Multiple Epiphyseal Dysplasia, Beighton Type 12 58
Multiple Epiphyseal Dysplasia with Myopia and Conductive Deafness 73
Multiple Epiphyseal Dysplasia-Myopia-Hearing Loss Syndrome 58
Dysplasia, Epiphyseal, Multiple, with Myopia and Deafness 39

Characteristics:

Orphanet epidemiological data:

58
multiple epiphyseal dysplasia, beighton type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on 4 patients in one family


HPO:

31
epiphyseal dysplasia, multiple, with myopia and conductive deafness:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111348
OMIM 56 132450
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 72 C1851536
Orphanet 58 ORPHA166011
MedGen 41 C1851536
UMLS 71 C1851536

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

UniProtKB/Swiss-Prot : 73 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 edmmd, is related to multiple epiphyseal dysplasia and cleft palate, isolated. 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 epiphyseal dysplasia and genu valgum

Disease Ontology : 12 A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has material basis in heterozygous mutation in COL2A1 on chromosome 12q13.11.

More information 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 multiple epiphyseal dysplasia 11.3
2 cleft palate, isolated 9.2 SMAD9 COL2A1
3 fundus dystrophy 8.9 SMAD9 MAF COL2A1

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

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

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epiphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002656
2 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
3 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
4 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
5 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
6 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
7 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
8 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
9 anonychia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001798
10 retinal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007973
11 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
12 short stature 31 HP:0004322
13 brachydactyly 31 HP:0001156
14 coxa valga 31 HP:0002673
15 short phalanx of finger 31 HP:0009803
16 retinal thinning 31 HP:0030329
17 asteroid hyalosis 31 HP:0030672

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Head And Neck Face:
flat face
round face

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

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.8 COL2A1 MAF SMAD9

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

Cochrane evidence based reviews: 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:

40
Bone, Eye

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

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

# Title Authors PMID Year
1
Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. 56 6
9800905 1998
2
Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness. 56
699354 1978
3
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia. 61
32071555 2020

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

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)SNV Pathogenic 17366 rs121912874 12:48372112-48372112 12:47978329-47978329
2 COL2A1 NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)SNV Pathogenic 17379 rs121912882 12:48373317-48373317 12:47979534-47979534
3 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)SNV Pathogenic 17395 rs121912893 12:48377504-48377504 12:47983721-47983721
4 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)SNV Pathogenic 195148 rs794727261 12:48393736-48393736 12:47999953-47999953
5 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)SNV Conflicting interpretations of pathogenicity 308931 rs142770543 12:48388220-48388220 12:47994437-47994437
6 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)SNV Uncertain significance 547841 rs886042009 12:48374344-48374344 12:47980561-47980561

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

73
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Arg904Cys VAR_017645 rs121912882

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...

Biological processes related to Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 8.96 MAF COL2A1
2 cellular response to BMP stimulus GO:0071773 8.62 SMAD9 COL2A1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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