MCID: MLT171
MIFTS: 9

Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

MalaCards integrated aliases for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia:

Name: Multiple Epiphyseal Dysplasia and Pseudoachondroplasia 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q78.8
Orphanet 58 ORPHA93429

Summaries for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

MalaCards based summary : Multiple Epiphyseal Dysplasia and Pseudoachondroplasia is related to pseudoachondroplasia and multiple epiphyseal dysplasia. An important gene associated with Multiple Epiphyseal Dysplasia and Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein). Affiliated tissues include bone.

Related Diseases for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

Diseases related to Multiple Epiphyseal Dysplasia and Pseudoachondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pseudoachondroplasia 10.4
2 multiple epiphyseal dysplasia 10.4
3 epiphyseal dysplasia, multiple, 1 10.2

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

Search Clinical Trials , NIH Clinical Center for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

Genetic Tests for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

Anatomical Context for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia and Pseudoachondroplasia:

40
Bone

Publications for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

Articles related to Multiple Epiphyseal Dysplasia and Pseudoachondroplasia:

# Title Authors PMID Year
1
Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not. 61
16199550 2005
2
Expression of cartilage oligomeric matrix protein (COMP) by embryonic and adult osteoblasts. 61
11117291 2000
3
Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. 61
9184241 1997
4
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. 61
7490089 1995

Variations for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

Expression for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

Search GEO for disease gene expression data for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia.

Pathways for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

GO Terms for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

Sources for Multiple Epiphyseal Dysplasia and Pseudoachondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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