MCID: EPP017
MIFTS: 32

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:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Epiphyseal Dysplasia, Multiple, 1:

Name: Epiphyseal Dysplasia, Multiple, 1 51 67
Edm1 47 24 53 69
Multiple Epiphyseal Dysplasia 1 47 24 69
Multiple Epiphyseal Dysplasia Type 1 53 26
Multiple Epiphyseal Dysplasia Comp-Related 47
 
Comp-Related Multiple Epiphyseal Dysplasia 24
Epiphyseal Dysplasia, Multiple 1 12
Epiphyseal Dysplasia Multiple 1 47
Polyepiphyseal Dysplasia Type 1 53
Med1 53

Characteristics:

Orphanet epidemiological data:

53
edm1:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

63
epiphyseal dysplasia, multiple, 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 132400
Orphanet53 ORPHA93308
MESH via Orphanet39 C535501
UMLS via Orphanet68 C1838280
ICD10 via Orphanet30 Q77.3
MeSH38 D010009

Summaries for Epiphyseal Dysplasia, Multiple, 1

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UniProtKB/Swiss-Prot:69 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.

OMIM:51 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

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 1:

 63 53 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly syndrome63 typical (50%) HP:0001156
2 arthralgia63 53 typical (50%) Frequent (79-30%) HP:0002829
3 micromelia63 53 typical (50%) Frequent (79-30%) HP:0002983
4 abnormality of the hip bone63 typical (50%) HP:0003272
5 genu valgum63 53 occasional (7.5%) Occasional (29-5%) HP:0002857
6 genu varum63 53 occasional (7.5%) Occasional (29-5%) HP:0002970
7 joint stiffness63 HP:0001387
8 waddling gait63 HP:0002515
9 epiphyseal dysplasia63 53 Very frequent (99-80%) HP:0002656
10 delayed epiphyseal ossification63 HP:0002663
11 generalized joint laxity63 HP:0002761
12 ovoid vertebral bodies63 HP:0003300
13 irregular vertebral endplates63 HP:0003301
14 mild short stature63 53 Frequent (79-30%) HP:0003502
15 avascular necrosis of the capital femoral epiphysis63 HP:0005743
16 broad femoral neck63 HP:0006429
17 limited hip movement63 HP:0008800
18 hip osteoarthritis63 HP:0008843
19 disproportionate short-limb short stature63 HP:0008873
20 short phalanx of finger63 HP:0009803
21 short metacarpal63 HP:0010049
22 irregular epiphyses63 HP:0010582
23 small epiphyses63 HP:0010585
24 short femoral neck63 HP:0100864
25 gait disturbance53 Frequent (79-30%)
26 joint dislocation53 Frequent (79-30%)
27 limitation of joint mobility53 Frequent (79-30%)
28 hip dysplasia53 Frequent (79-30%)
29 osteoarthritis53 Very frequent (99-80%)
30 short palm53 Frequent (79-30%)

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
RopivacaineapprovedPhase 474184057-95-471273, 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

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Genetic tests related to Epiphyseal Dysplasia, Multiple, 1:

id Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 126
2 Comp-Related Multiple Epiphyseal Dysplasia24 COMP

Anatomical Context for Epiphyseal Dysplasia, Multiple, 1

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

35
Bone

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

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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:

69 (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

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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet