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 59

Classifications:



External Ids:

ICD10 via Orphanet 34 Q78.8
Orphanet 59 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:

41
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. 38
16199550 2005
2
Expression of cartilage oligomeric matrix protein (COMP) by embryonic and adult osteoblasts. 38
11117291 2000
3
Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. 38
9184241 1997
4
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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