EDM1
MCID: MLT043
MIFTS: 17

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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MalaCards based summary: 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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Multiple Epiphyseal Dysplasia 1, Aliases & Descriptions:

Name: Multiple Epiphyseal Dysplasia 1 42
Multiple Epiphyseal Dysplasia Comp-Related 42 20
Epiphyseal Dysplasia Multiple 1 42 22
 
Epiphyseal Dysplasia, Multiple, 1 62
Edm1 42


Classifications:

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


Related Diseases for Multiple Epiphyseal Dysplasia 1

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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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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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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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Clinvar genetic disease variations for Multiple Epiphyseal Dysplasia 1:

6
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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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

Sources for Multiple Epiphyseal Dysplasia 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet