MCID: EPP017
MIFTS: 31

Epiphyseal Dysplasia, Multiple, 1

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 1

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 1:

Name: Epiphyseal Dysplasia, Multiple, 1 53 69
Edm1 53 49 55 71
Multiple Epiphyseal Dysplasia 1 49 71 28
Multiple Epiphyseal Dysplasia, Comp-Related 53
Multiple Epiphyseal Dysplasia Comp-Related 49
Multiple Epiphyseal Dysplasia Type 1 55
Epiphyseal Dysplasia, Multiple 1 13
Epiphyseal Dysplasia Multiple 1 49
Polyepiphyseal Dysplasia Type 1 55
Med1 55

Characteristics:

Orphanet epidemiological data:

55
multiple epiphyseal dysplasia type 1
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm2 )
allelic to pseudoachondroplasia
hip joint replacement often necessary
symptoms usually manifest in childhood including waddling gait and painful, stiff joints


HPO:

31
epiphyseal dysplasia, multiple, 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 132400
Orphanet 55 ORPHA93308
MESH via Orphanet 42 C535501
UMLS via Orphanet 70 C1838280
ICD10 via Orphanet 33 Q77.3
MeSH 41 D010009
UMLS 69 C1838280

Summaries for Epiphyseal Dysplasia, Multiple, 1

UniProtKB/Swiss-Prot : 71 Multiple epiphyseal dysplasia 1: 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, 1, also known as edm1, is related to multiple epiphyseal dysplasia and breast cancer, and has symptoms including arthralgia, joint dislocation and osteoarthritis. An important gene associated with Epiphyseal Dysplasia, Multiple, 1 is COMP (Cartilage Oligomeric Matrix Protein). The drug Ropivacaine has been mentioned in the context of this disorder. Affiliated tissues include bone.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Multiple epiphyseal dysplasia.

OMIM : 53 Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis (Briggs et al., 1995). (132400)

Related Diseases for Epiphyseal Dysplasia, Multiple, 1

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 1:



Diseases related to Epiphyseal Dysplasia, Multiple, 1

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 1

Symptoms via clinical synopsis from OMIM:

53
Skeletal Spine:
ovoid vertebral bodies
mild irregularity of vertebral endplates

Skeletal Pelvis:
limited hip movement
avascular necrosis of femoral head
broad, short femoral neck
hip osteoarthritis (early-onset)

Growth Height:
short stature, mild to moderate
dwarfism, mild short-limb
final adult height 145-170cm

Skeletal:
generalized joint laxity

Skeletal Hands:
short metacarpals
short phalanges

Skeletal Limbs:
late ossifying epiphyses
small, irregular epiphyses
genua valga


Clinical features from OMIM:

132400

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 1:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 frequent (33%) Frequent (79-30%) HP:0002829
2 joint dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0001373
3 osteoarthritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002758
4 genu valgum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002857
5 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
6 hip dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0001385
7 epiphyseal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002656
8 micromelia 55 31 frequent (33%) Frequent (79-30%) HP:0002983
9 short palm 55 31 frequent (33%) Frequent (79-30%) HP:0004279
10 limitation of joint mobility 55 31 frequent (33%) Frequent (79-30%) HP:0001376
11 genu varum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002970
12 mild short stature 55 31 frequent (33%) Frequent (79-30%) HP:0003502
13 joint stiffness 31 HP:0001387
14 waddling gait 31 HP:0002515
15 ovoid vertebral bodies 31 HP:0003300
16 severe short stature 31 HP:0003510
17 disproportionate short-limb short stature 31 HP:0008873
18 short metacarpal 31 HP:0010049
19 avascular necrosis of the capital femoral epiphysis 31 HP:0005743
20 short phalanx of finger 31 HP:0009803
21 irregular vertebral endplates 31 HP:0003301
22 generalized joint laxity 31 HP:0002761
23 small epiphyses 31 HP:0010585
24 irregular epiphyses 31 HP:0010582
25 broad femoral neck 31 HP:0006429
26 short femoral neck 31 HP:0100864
27 delayed epiphyseal ossification 31 HP:0002663
28 hip osteoarthritis 31 HP:0008843
29 limited hip movement 31 HP:0008800

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 1

Drugs for Epiphyseal Dysplasia, Multiple, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Phase 4 84057-95-4 175805 71273

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pre-emptive Sciatic Bloc to Prevent Lower Limb Phantom Pain Completed NCT00528463 Phase 4
2 Detecting Diabetes Sooner With a Risk Survey for the Family Doctor:Comparing Internet and Traditional Methods of Communication for Patients and Doctors Unknown status NCT01529918

Search NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 1

Genetic Tests for Epiphyseal Dysplasia, Multiple, 1

Genetic tests related to Epiphyseal Dysplasia, Multiple, 1:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 1 28 COMP

Anatomical Context for Epiphyseal Dysplasia, Multiple, 1

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 1:

38
Bone

Publications for Epiphyseal Dysplasia, Multiple, 1

Articles related to Epiphyseal Dysplasia, Multiple, 1:

# Title Authors Year
1
EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia. ( 23506586 )
2013

Variations for Epiphyseal Dysplasia, Multiple, 1

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 1:

71 (show all 29)
# Symbol AA change Variation ID SNP ID
1 COMP p.Asp342Tyr VAR_007617 rs137852652
2 COMP p.Asp361Val VAR_007619
3 COMP p.Asp361Tyr VAR_007620
4 COMP p.Cys371Ser VAR_007622
5 COMP p.Asp408Tyr VAR_007627
6 COMP p.Asn453Ser VAR_007630 rs28936668
7 COMP p.Asn523Lys VAR_007640 rs137852654
8 COMP p.Thr585Arg VAR_007642 rs312262900
9 COMP p.Pro276Arg VAR_026239
10 COMP p.Asp420Ala VAR_026240
11 COMP p.Gly167Glu VAR_066789 rs763887855
12 COMP p.Ser298Leu VAR_066792
13 COMP p.Ala311Asp VAR_066793
14 COMP p.Asp317Gly VAR_066794
15 COMP p.Asp326Gly VAR_066795
16 COMP p.Cys348Phe VAR_066798
17 COMP p.Cys371Tyr VAR_066800
18 COMP p.Asp374Asn VAR_066801
19 COMP p.Asp376Asn VAR_066802
20 COMP p.Asp385Asn VAR_066804
21 COMP p.Asp385Tyr VAR_066805
22 COMP p.Asp397His VAR_066808
23 COMP p.Gly404Arg VAR_066810
24 COMP p.Cys410Tyr VAR_066811
25 COMP p.Asn415Lys VAR_066812
26 COMP p.Gly427Glu VAR_066813
27 COMP p.Gly501Asp VAR_066821
28 COMP p.Arg718Pro VAR_066826 rs149551600
29 COMP p.Arg718Trp VAR_066827 rs28936368

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 1:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 COMP NM_000095.2(COMP): c.1569C> G (p.Asn523Lys) single nucleotide variant Pathogenic rs137852654 GRCh37 Chromosome 19, 18896582: 18896582
2 COMP NM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp) duplication Pathogenic rs312262898 GRCh37 Chromosome 19, 18896845: 18896847
3 COMP NM_000095.2(COMP): c.2223dupC (p.Asn742Glnfs) duplication Pathogenic rs869320730 GRCh38 Chromosome 19, 18783058: 18783058
4 COMP NM_000095.2(COMP): c.2152C> T (p.Arg718Trp) single nucleotide variant Pathogenic rs28936368 GRCh37 Chromosome 19, 18893939: 18893939
5 COMP NM_000095.2(COMP): c.1754C> G (p.Thr585Arg) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
6 COMP NM_000095.2(COMP): c.1754C> T (p.Thr585Met) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
7 COMP NM_000095.2(COMP): c.1156_1158delAAC (p.Asn386del) deletion Pathogenic rs397515510 GRCh37 Chromosome 19, 18897438: 18897440
8 COMP NM_000095.2(COMP): c.1665C> A (p.Asn555Lys) single nucleotide variant Pathogenic rs397515511 GRCh37 Chromosome 19, 18896486: 18896486
9 COMP NM_000095.2(COMP): c.1813G> A (p.Asp605Asn) single nucleotide variant Pathogenic rs397515512 GRCh37 Chromosome 19, 18895807: 18895807
10 COMP NM_000095.2(COMP): c.2042C> G (p.Ser681Cys) single nucleotide variant Pathogenic rs397515513 GRCh37 Chromosome 19, 18895046: 18895046
11 COMP NM_000095.2(COMP): c.2153G> C (p.Arg718Pro) single nucleotide variant Pathogenic rs149551600 GRCh37 Chromosome 19, 18893938: 18893938
12 COMP NM_000095.2(COMP): c.1126G> T (p.Asp376Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 18787500: 18787500

Expression for Epiphyseal Dysplasia, Multiple, 1

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 1.

Pathways for Epiphyseal Dysplasia, Multiple, 1

GO Terms for Epiphyseal Dysplasia, Multiple, 1

Sources for Epiphyseal Dysplasia, Multiple, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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