MCID: EPP017
MIFTS: 30

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 57 73
Multiple Epiphyseal Dysplasia 1 53 75 29 6
Edm1 57 53 59 75
Multiple Epiphyseal Dysplasia, Comp-Related 57
Multiple Epiphyseal Dysplasia Comp-Related 53
Dysplasia, Epiphyseal, Multiple, Type 1 40
Multiple Epiphyseal Dysplasia Type 1 59
Epiphyseal Dysplasia, Multiple 1 13
Epiphyseal Dysplasia Multiple 1 53
Polyepiphyseal Dysplasia Type 1 59
Med1 59

Characteristics:

Orphanet epidemiological data:

59
multiple epiphyseal dysplasia type 1
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
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:

32
epiphyseal dysplasia, multiple, 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 132400
Orphanet 59 ORPHA93308
MESH via Orphanet 45 C535501
UMLS via Orphanet 74 C1838280
ICD10 via Orphanet 34 Q77.3
MeSH 44 D010009
UMLS 73 C1838280

Summaries for Epiphyseal Dysplasia, Multiple, 1

UniProtKB/Swiss-Prot : 75 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 multiple epiphyseal dysplasia 1, is related to multiple epiphyseal dysplasia and breast cancer. 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, and related phenotypes are joint dislocation and osteoarthritis

OMIM : 57 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:

57
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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001373
2 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
3 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
4 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
5 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
6 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
7 epiphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002656
8 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
9 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
10 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
11 genu varum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002970
12 mild short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003502
13 joint stiffness 32 HP:0001387
14 ovoid vertebral bodies 32 HP:0003300
15 severe short stature 32 HP:0003510
16 disproportionate short-limb short stature 32 HP:0008873
17 short metacarpal 32 HP:0010049
18 avascular necrosis of the capital femoral epiphysis 32 HP:0005743
19 short phalanx of finger 32 HP:0009803
20 waddling gait 32 HP:0002515
21 irregular vertebral endplates 32 HP:0003301
22 generalized joint laxity 32 HP:0002761
23 small epiphyses 32 HP:0010585
24 irregular epiphyses 32 HP:0010582
25 broad femoral neck 32 HP:0006429
26 short femoral neck 32 HP:0100864
27 delayed epiphyseal ossification 32 HP:0002663
28 hip osteoarthritis 32 HP:0008843
29 limited hip movement 32 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 71273 175805

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 Not Applicable

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 29 COMP

Anatomical Context for Epiphyseal Dysplasia, Multiple, 1

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

41
Bone

Publications for Epiphyseal Dysplasia, Multiple, 1

Variations for Epiphyseal Dysplasia, Multiple, 1

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

75 (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 26)
# 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.1569C> G (p.Asn523Lys) single nucleotide variant Pathogenic rs137852654 GRCh38 Chromosome 19, 18785772: 18785772
3 COMP NM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp) duplication Pathogenic rs312262898 GRCh37 Chromosome 19, 18896845: 18896847
4 COMP NM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp) duplication Pathogenic rs312262898 GRCh38 Chromosome 19, 18786035: 18786037
5 COMP NM_000095.2(COMP): c.2223dupC (p.Asn742Glnfs) duplication Pathogenic rs869320730 GRCh38 Chromosome 19, 18783058: 18783058
6 COMP NM_000095.2(COMP): c.2223dupC (p.Asn742Glnfs) duplication Pathogenic rs869320730 GRCh37 Chromosome 19, 18893868: 18893868
7 COMP NM_000095.2(COMP): c.2152C> T (p.Arg718Trp) single nucleotide variant Pathogenic rs28936368 GRCh37 Chromosome 19, 18893939: 18893939
8 COMP NM_000095.2(COMP): c.2152C> T (p.Arg718Trp) single nucleotide variant Pathogenic rs28936368 GRCh38 Chromosome 19, 18783129: 18783129
9 COMP NM_000095.2(COMP): c.1754C> G (p.Thr585Arg) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
10 COMP NM_000095.2(COMP): c.1754C> G (p.Thr585Arg) single nucleotide variant Pathogenic rs312262900 GRCh38 Chromosome 19, 18785056: 18785056
11 COMP NM_000095.2(COMP): c.1754C> T (p.Thr585Met) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
12 COMP NM_000095.2(COMP): c.1754C> T (p.Thr585Met) single nucleotide variant Pathogenic rs312262900 GRCh38 Chromosome 19, 18785056: 18785056
13 COMP NM_000095.2(COMP): c.1156_1158delAAC (p.Asn386del) deletion Pathogenic rs397515510 GRCh37 Chromosome 19, 18897438: 18897440
14 COMP NM_000095.2(COMP): c.1156_1158delAAC (p.Asn386del) deletion Pathogenic rs397515510 GRCh38 Chromosome 19, 18786628: 18786630
15 COMP NM_000095.2(COMP): c.1665C> A (p.Asn555Lys) single nucleotide variant Pathogenic rs397515511 GRCh37 Chromosome 19, 18896486: 18896486
16 COMP NM_000095.2(COMP): c.1665C> A (p.Asn555Lys) single nucleotide variant Pathogenic rs397515511 GRCh38 Chromosome 19, 18785676: 18785676
17 COMP NM_000095.2(COMP): c.1813G> A (p.Asp605Asn) single nucleotide variant Pathogenic rs397515512 GRCh37 Chromosome 19, 18895807: 18895807
18 COMP NM_000095.2(COMP): c.1813G> A (p.Asp605Asn) single nucleotide variant Pathogenic rs397515512 GRCh38 Chromosome 19, 18784997: 18784997
19 COMP NM_000095.2(COMP): c.2042C> G (p.Ser681Cys) single nucleotide variant Pathogenic rs397515513 GRCh37 Chromosome 19, 18895046: 18895046
20 COMP NM_000095.2(COMP): c.2042C> G (p.Ser681Cys) single nucleotide variant Pathogenic rs397515513 GRCh38 Chromosome 19, 18784236: 18784236
21 COMP NM_000095.2(COMP): c.2153G> C (p.Arg718Pro) single nucleotide variant Pathogenic rs149551600 GRCh37 Chromosome 19, 18893938: 18893938
22 COMP NM_000095.2(COMP): c.2153G> C (p.Arg718Pro) single nucleotide variant Pathogenic rs149551600 GRCh38 Chromosome 19, 18783128: 18783128
23 COMP NM_000095.2(COMP): c.1489+2T> A single nucleotide variant Uncertain significance rs1131692038 GRCh38 Chromosome 19, 18785963: 18785963
24 COMP NM_000095.2(COMP): c.1489+2T> A single nucleotide variant Uncertain significance rs1131692038 GRCh37 Chromosome 19, 18896773: 18896773
25 COMP NM_000095.2(COMP): c.1126G> T (p.Asp376Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 18787500: 18787500
26 COMP NM_000095.2(COMP): c.1126G> T (p.Asp376Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 18898309: 18898309

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

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9 Cosmic
10 dbSNP
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17 ExPASy
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28 GO
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30 HGMD
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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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