MCID: EPP017
MIFTS: 33

Epiphyseal Dysplasia, Multiple, 1 malady

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 1

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Sources:
50OMIM, 66UMLS, 46NIH Rare Diseases, 23GeneTests, 68UniProtKB/Swiss-Prot, 52Orphanet, 25GTR, 12diseasecard, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Epiphyseal Dysplasia, Multiple, 1:

Name: Epiphyseal Dysplasia, Multiple, 1 50 66
Edm1 46 23 52 68
Multiple Epiphyseal Dysplasia 1 46 23 68
Multiple Epiphyseal Dysplasia Type 1 52 25
Multiple Epiphyseal Dysplasia Comp-Related 46
 
Comp-Related Multiple Epiphyseal Dysplasia 23
Epiphyseal Dysplasia, Multiple 1 12
Epiphyseal Dysplasia Multiple 1 46
Polyepiphyseal Dysplasia Type 1 52
Med1 52

Characteristics:

Orphanet epidemiological data:

52
edm1:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

62
epiphyseal dysplasia, multiple, 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 132400
Orphanet52 ORPHA93308
ICD10 via Orphanet29 Q77.3
MESH via Orphanet38 C535501
UMLS via Orphanet67 C1838280
MeSH37 D010009

Summaries for Epiphyseal Dysplasia, Multiple, 1

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UniProtKB/Swiss-Prot:68 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 brachydactyly syndrome, arthralgia and micromelia. An important gene associated with Epiphyseal Dysplasia, Multiple, 1 is COMP (Cartilage Oligomeric Matrix Protein). Affiliated tissues include bone, and related mouse phenotype muscle.

OMIM:50 Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis... (132400) more...

Related Diseases for Epiphyseal Dysplasia, Multiple, 1

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



Diseases related to epiphyseal dysplasia, multiple, 1

Symptoms for Epiphyseal Dysplasia, Multiple, 1

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Symptoms by clinical synopsis from OMIM:

132400

Clinical features from OMIM:

132400

Symptoms:

 52 (show all 12)
  • gait disturbance
  • joint dislocation
  • limitation of joint mobility
  • hip dysplasia
  • epiphyseal dysplasia
  • osteoarthritis
  • arthralgia
  • genu valgum
  • genu varum
  • micromelia
  • mild short stature
  • short palm

HPO human phenotypes related to Epiphyseal Dysplasia, Multiple, 1:

(show all 25)
id Description Frequency HPO Source Accession
1 brachydactyly syndrome typical (50%) HP:0001156
2 arthralgia typical (50%) HP:0002829
3 micromelia typical (50%) HP:0002983
4 abnormality of the hip bone typical (50%) HP:0003272
5 genu valgum occasional (7.5%) HP:0002857
6 genu varum occasional (7.5%) HP:0002970
7 joint stiffness HP:0001387
8 waddling gait HP:0002515
9 epiphyseal dysplasia HP:0002656
10 delayed epiphyseal ossification HP:0002663
11 generalized joint laxity HP:0002761
12 genu valgum HP:0002857
13 ovoid vertebral bodies HP:0003300
14 irregular vertebral endplates HP:0003301
15 mild short stature HP:0003502
16 avascular necrosis of the capital femoral epiphysis HP:0005743
17 broad femoral neck HP:0006429
18 limited hip movement HP:0008800
19 hip osteoarthritis HP:0008843
20 disproportionate short-limb short stature HP:0008873
21 short phalanx of finger HP:0009803
22 short metacarpal HP:0010049
23 irregular epiphyses HP:0010582
24 small epiphyses HP:0010585
25 short femoral neck HP:0100864

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 1

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RopivacainePhase 470984057-95-471273, 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 DoctorsActive, not recruitingNCT01529918
3Trial of Ceramic Water Filters to Reduce Cryptosporidium Infection in KenyaNot yet recruitingNCT01695304

Search NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 1

Genetic Tests for Epiphyseal Dysplasia, Multiple, 1

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Genetic tests related to Epiphyseal Dysplasia, Multiple, 1:

id Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 125
2 Comp-Related Multiple Epiphyseal Dysplasia23 COMP

Anatomical Context for Epiphyseal Dysplasia, Multiple, 1

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

34
Bone

Animal Models for Epiphyseal Dysplasia, Multiple, 1 or affiliated genes

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MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1COMP, SCN8A

Publications for Epiphyseal Dysplasia, Multiple, 1

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Variations for Epiphyseal Dysplasia, Multiple, 1

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

68 (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)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
2COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)single nucleotide variantPathogenicrs312262900GRCh37Chr 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)single nucleotide variantPathogenicrs397515511GRCh37Chr 19, 18896486: 18896486
5COMPNM_000095.2(COMP): c.1813G> A (p.Asp605Asn)single nucleotide variantPathogenicrs397515512GRCh37Chr 19, 18895807: 18895807
6COMPNM_000095.2(COMP): c.2042C> G (p.Ser681Cys)single nucleotide variantPathogenicrs397515513GRCh37Chr 19, 18895046: 18895046
7COMPNM_000095.2(COMP): c.2153G> C (p.Arg718Pro)single nucleotide variantPathogenicrs149551600GRCh37Chr 19, 18893938: 18893938
8COMPNM_000095.2(COMP): c.1569C> G (p.Asn523Lys)single nucleotide variantPathogenicrs137852654GRCh37Chr 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)duplicationPathogenicrs869320730GRCh37Chr 19, 18893868: 18893868
11COMPNM_000095.2(COMP): c.2152C> T (p.Arg718Trp)single nucleotide variantPathogenicrs28936368GRCh37Chr 19, 18893939: 18893939

Expression for genes affiliated with Epiphyseal Dysplasia, Multiple, 1

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

Pathways for genes affiliated with Epiphyseal Dysplasia, Multiple, 1

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

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Sources for Epiphyseal Dysplasia, Multiple, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet