MCID: EPP016
MIFTS: 27

Epiphyseal Dysplasia, Multiple 1 malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Epiphyseal Dysplasia, Multiple 1

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OMIM:45 Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis... (132400) more...

MalaCards based summary: Epiphyseal Dysplasia, Multiple 1, also known as multiple epiphyseal dysplasia comp-related, is related to multiple epiphyseal dysplasia and epiphyseal dysplasia, multiple, 4, and has symptoms including autosomal dominant inheritance, joint stiffness and waddling gait. An important gene associated with Epiphyseal Dysplasia, Multiple 1 is COMP (cartilage oligomeric matrix protein).

Aliases & Classifications for Epiphyseal Dysplasia, Multiple 1

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Epiphyseal Dysplasia, Multiple 1, Aliases & Descriptions:

Name: Epiphyseal Dysplasia, Multiple 1 45 10
Multiple Epiphyseal Dysplasia Comp-Related 41 20
Epiphyseal Dysplasia, Multiple, 1 45 60
Multiple Epiphyseal Dysplasia Type 1 22
 
Epiphyseal Dysplasia Multiple 1 41
Multiple Epiphyseal Dysplasia 1 41
Edm1 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


External Ids:

OMIM45 132400

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

HPO human phenotypes related to Epiphyseal Dysplasia, Multiple 1:

(show all 20)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 joint stiffness HP:0001387
3 waddling gait HP:0002515
4 epiphyseal dysplasia HP:0002656
5 delayed epiphyseal ossification HP:0002663
6 generalized joint laxity HP:0002761
7 genu valgum HP:0002857
8 ovoid vertebral bodies HP:0003300
9 irregular vertebral endplates HP:0003301
10 mild short stature HP:0003502
11 avascular necrosis of the capital femoral epiphysis HP:0005743
12 broad femoral neck HP:0006429
13 limited hip movement HP:0008800
14 hip osteoarthritis HP:0008843
15 disproportionate short-limb short stature HP:0008873
16 short phalanx of finger HP:0009803
17 short metacarpal HP:0010049
18 irregular epiphyses HP:0010582
19 small epiphyses HP:0010585
20 short femoral neck HP:0100864

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple 1

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Drug clinical trials:

Search ClinicalTrials for Epiphyseal Dysplasia, Multiple 1

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 Comp-Related Multiple Epiphyseal Dysplasia20 COMP
2 Multiple Epiphyseal Dysplasia 122

Anatomical Context for Epiphyseal Dysplasia, Multiple 1

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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:

62 (show all 29)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp342TyrVAR_007617
2COMPp.Asp361ValVAR_007619
3COMPp.Asp361TyrVAR_007620
4COMPp.Cys371SerVAR_007622
5COMPp.Asp408TyrVAR_007627
6COMPp.Asn453SerVAR_007630rs28936668
7COMPp.Asn523LysVAR_007640
8COMPp.Thr585ArgVAR_007642
9COMPp.Pro276ArgVAR_026239
10COMPp.Asp420AlaVAR_026240
11COMPp.Gly167GluVAR_066789
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_066826
29COMPp.Arg718TrpVAR_066827rs28936368

Clinvar genetic disease variations for Epiphyseal Dysplasia, Multiple 1:

6
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.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896859
9COMPNM_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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Compounds 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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Products for genes affiliated with Epiphyseal Dysplasia, Multiple 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Epiphyseal Dysplasia, Multiple 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet