EDM1
MCID: EPP017
MIFTS: 31

Epiphyseal Dysplasia, Multiple, 1 (EDM1) malady

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 1

About this section
Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Epiphyseal Dysplasia, Multiple, 1:

Name: Epiphyseal Dysplasia, Multiple, 1 52 68
Edm1 48 24 54 70
Multiple Epiphyseal Dysplasia 1 48 24 70
Multiple Epiphyseal Dysplasia Type 1 54 27
Multiple Epiphyseal Dysplasia Comp-Related 48
 
Comp-Related Multiple Epiphyseal Dysplasia 24
Epiphyseal Dysplasia, Multiple 1 12
Epiphyseal Dysplasia Multiple 1 48
Polyepiphyseal Dysplasia Type 1 54
Med1 54

Characteristics:

Orphanet epidemiological data:

54
edm1:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

64
epiphyseal dysplasia, multiple, 1:
Inheritance: autosomal dominant inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 132400
Orphanet54 ORPHA93308
MESH via Orphanet40 C535501
UMLS via Orphanet69 C1838280
ICD10 via Orphanet31 Q77.3
MeSH39 D010009

Summaries for Epiphyseal Dysplasia, Multiple, 1

About this section
UniProtKB/Swiss-Prot:70 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 Array, Array and Array. An important gene associated with Epiphyseal Dysplasia, Multiple, 1 is COMP (Cartilage Oligomeric Matrix Protein). Affiliated tissues include bone.

OMIM:52 Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis... (132400) more...

Related Diseases for Epiphyseal Dysplasia, Multiple, 1

About this section

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



Diseases related to epiphyseal dysplasia, multiple, 1

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 1

About this section

Symptoms by clinical synopsis from OMIM:

132400

Clinical features from OMIM:

132400

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 1:

 54 64 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance64 54 Frequent (79-30%) HP:0001288
2 joint dislocation64 54 Frequent (79-30%) HP:0001373
3 limitation of joint mobility64 54 Frequent (79-30%) HP:0001376
4 hip dysplasia64 54 Frequent (79-30%) HP:0001385
5 epiphyseal dysplasia64 54 Very frequent (99-80%) HP:0002656
6 osteoarthritis64 54 Very frequent (99-80%) HP:0002758
7 arthralgia64 54 Frequent (79-30%) HP:0002829
8 genu valgum64 54 Occasional (29-5%) HP:0002857
9 genu varum64 54 Occasional (29-5%) HP:0002970
10 micromelia64 54 Frequent (79-30%) HP:0002983
11 mild short stature64 54 Frequent (79-30%) HP:0003502
12 short palm64 54 Frequent (79-30%) HP:0004279
13 joint stiffness64 HP:0001387
14 waddling gait64 HP:0002515
15 delayed epiphyseal ossification64 HP:0002663
16 generalized joint laxity64 HP:0002761
17 ovoid vertebral bodies64 HP:0003300
18 irregular vertebral endplates64 HP:0003301
19 avascular necrosis of the capital femoral epiphysis64 HP:0005743
20 broad femoral neck64 HP:0006429
21 limited hip movement64 HP:0008800
22 hip osteoarthritis64 HP:0008843
23 disproportionate short-limb short stature64 HP:0008873
24 short phalanx of finger64 HP:0009803
25 short metacarpal64 HP:0010049
26 irregular epiphyses64 HP:0010582
27 small epiphyses64 HP:0010585
28 short femoral neck64 HP:0100864

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 1

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RopivacaineapprovedPhase 479384057-95-471273, 175805
Synonyms:
(2S)-N-(2,6-dimethylphenyl)-1-propylpiperidine-2-carboxamide
(2S)-N-(2,6-dimethylphenyl)-1-propylpiperidine-2-carboxamide hydrochloride
(S)-(−)-1-propyl-2',6'-pipecoloxylidide
(S)-ropivacaine
84057-95-4
98717-15-8
AC1L41QM
AC1L41QN
BIDD:GT0203
C07532
C17H26N2O.HCl
CHEBI:8890
CHEMBL1077896
CID175804
CID175805
CPD000469137
D08490
I14-176
L-N-n-propylpipecolic acid-2,6-xylidide
LS-113954
 
MLS001401363
MolPort-003-983-292
NCGC00164597-01
Naropin
Naropin (TN)
ROPIVACAINE HCl
Ropivacaina
Ropivacaina [INN-Spanish]
Ropivacaina [Spanish]
Ropivacaine
Ropivacaine [INN]
Ropivacaine hydrochloride
Ropivacaine monohydrochloride
Ropivacainum
Ropivacainum [INN-Latin]
S-Ropivacaine
SAM001246524
SMR000469137
ST51051452
ropivacaine monohydrochloride,
ropivacaine monohydrochloride, (S)-isomer

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pre-emptive Sciatic Bloc to Prevent Lower Limb Phantom PainCompletedNCT00528463Phase 4
2Detecting Diabetes Sooner With a Risk Survey for the Family Doctor:Comparing Internet and Traditional Methods of Communication for Patients and DoctorsUnknown statusNCT01529918

Search NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 1

Genetic Tests for Epiphyseal Dysplasia, Multiple, 1

About this section

Genetic tests related to Epiphyseal Dysplasia, Multiple, 1:

id Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 127
2 Comp-Related Multiple Epiphyseal Dysplasia24 COMP

Anatomical Context for Epiphyseal Dysplasia, Multiple, 1

About this section

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

36
Bone

Publications for Epiphyseal Dysplasia, Multiple, 1

About this section

Variations for Epiphyseal Dysplasia, Multiple, 1

About this section

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

70 (show all 29)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp342TyrVAR_007617rs137852652
2COMPp.Asp361ValVAR_007619
3COMPp.Asp361TyrVAR_007620
4COMPp.Cys371SerVAR_007622
5COMPp.Asp408TyrVAR_007627
6COMPp.Asn453SerVAR_007630rs28936668
7COMPp.Asn523LysVAR_007640rs137852654
8COMPp.Thr585ArgVAR_007642rs312262900
9COMPp.Pro276ArgVAR_026239
10COMPp.Asp420AlaVAR_026240
11COMPp.Gly167GluVAR_066789rs763887855
12COMPp.Ser298LeuVAR_066792
13COMPp.Ala311AspVAR_066793
14COMPp.Asp317GlyVAR_066794
15COMPp.Asp326GlyVAR_066795
16COMPp.Cys348PheVAR_066798
17COMPp.Cys371TyrVAR_066800
18COMPp.Asp374AsnVAR_066801
19COMPp.Asp376AsnVAR_066802
20COMPp.Asp385AsnVAR_066804
21COMPp.Asp385TyrVAR_066805
22COMPp.Asp397HisVAR_066808
23COMPp.Gly404ArgVAR_066810
24COMPp.Cys410TyrVAR_066811
25COMPp.Asn415LysVAR_066812
26COMPp.Gly427GluVAR_066813
27COMPp.Gly501AspVAR_066821
28COMPp.Arg718ProVAR_066826rs149551600
29COMPp.Arg718TrpVAR_066827rs28936368

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

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1COMPNM_ 000095.2(COMP): c.1754C> G (p.Thr585Arg)SNVPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
2COMPNM_ 000095.2(COMP): c.1754C> T (p.Thr585Met)SNVPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
3COMPNM_ 000095.2(COMP): c.1156_ 1158delAAC (p.Asn386del)deletionPathogenicrs397515510GRCh37Chr 19, 18897438: 18897440
4COMPNM_ 000095.2(COMP): c.1665C> A (p.Asn555Lys)SNVPathogenicrs397515511GRCh37Chr 19, 18896486: 18896486
5COMPNM_ 000095.2(COMP): c.1813G> A (p.Asp605Asn)SNVPathogenicrs397515512GRCh37Chr 19, 18895807: 18895807
6COMPNM_ 000095.2(COMP): c.2042C> G (p.Ser681Cys)SNVPathogenicrs397515513GRCh37Chr 19, 18895046: 18895046
7COMPNM_ 000095.2(COMP): c.2153G> C (p.Arg718Pro)SNVPathogenicrs149551600GRCh37Chr 19, 18893938: 18893938
8COMPNM_ 000095.2(COMP): c.1569C> G (p.Asn523Lys)SNVPathogenicrs137852654GRCh37Chr 19, 18896582: 18896582
9COMPNM_ 000095.2(COMP): c.1417_ 1419dupGAC (p.Asp473_ Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896847
10COMPNM_ 000095.2(COMP): c.2223dupC (p.Asn742Glnfs)duplicationPathogenicrs869320730GRCh38Chr 19, 18783058: 18783058
11COMPNM_ 000095.2(COMP): c.2152C> T (p.Arg718Trp)SNVPathogenicrs28936368GRCh37Chr 19, 18893939: 18893939

Expression for genes affiliated with Epiphyseal Dysplasia, Multiple, 1

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

Pathways for genes affiliated with Epiphyseal Dysplasia, Multiple, 1

About this section

GO Terms for genes affiliated with Epiphyseal Dysplasia, Multiple, 1

About this section

Sources for Epiphyseal Dysplasia, Multiple, 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet