EDM1
MCID: MLT043
MIFTS: 16

Multiple Epiphyseal Dysplasia 1 (EDM1) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Multiple Epiphyseal Dysplasia 1

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33MalaCards
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MalaCards: Multiple Epiphyseal Dysplasia 1, also known as multiple epiphyseal dysplasia comp-related, is related to multiple epiphyseal dysplasia and pseudoachondroplasia. An important gene associated with Multiple Epiphyseal Dysplasia 1 is COMP (cartilage oligomeric matrix protein).

Aliases & Classifications for Multiple Epiphyseal Dysplasia 1

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43NIH Rare Diseases, 22GTR, 20GeneTests, 62UMLS
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Classifications:

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


Aliases & Descriptions:

multiple epiphyseal dysplasia 1 43
multiple epiphyseal dysplasia comp-related 43 20
epiphyseal dysplasia multiple 1 43 22
epiphyseal dysplasia, multiple, 1 62
edm1 43


Related Diseases for Multiple Epiphyseal Dysplasia 1

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17GeneCards, 18GeneDecks
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Symptoms for Multiple Epiphyseal Dysplasia 1

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Drugs & Therapeutics for Multiple Epiphyseal Dysplasia 1

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Multiple Epiphyseal Dysplasia 1

Search NIH Clinical Center for Multiple Epiphyseal Dysplasia 1

Genetic Tests for Multiple Epiphyseal Dysplasia 1

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20GeneTests, 22GTR
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Genetic tests related to Multiple Epiphyseal Dysplasia 1:

id Genetic test Affiliating Genes
1 Comp-Related Multiple Epiphyseal Dysplasia20 COMP
2 Multiple Epiphyseal Dysplasia 122

Anatomical Context for Multiple Epiphyseal Dysplasia 1

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Animal Models for Multiple Epiphyseal Dysplasia 1 or affiliated genes

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Publications for Multiple Epiphyseal Dysplasia 1

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Variations for Multiple Epiphyseal Dysplasia 1

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Multiple Epiphyseal Dysplasia 1:

1
id Gene Name 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 Multiple Epiphyseal Dysplasia 1

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Epiphyseal Dysplasia 1

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

Pathways for genes affiliated with Multiple Epiphyseal Dysplasia 1

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Compounds for genes affiliated with Multiple Epiphyseal Dysplasia 1

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GO Terms for genes affiliated with Multiple Epiphyseal Dysplasia 1

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Products for genes affiliated with Multiple Epiphyseal Dysplasia 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Epiphyseal Dysplasia 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet