MCID: MSM003
MIFTS: 15

Mesomelia

Categories: Rare diseases

Aliases & Classifications for Mesomelia

MalaCards integrated aliases for Mesomelia:

Name: Mesomelia 53 29

Classifications:



Summaries for Mesomelia

MalaCards based summary : Mesomelia is related to mesomelia-synostoses syndrome and brachydactyly-mesomelia-intellectual disability-heart defects syndrome. An important gene associated with Mesomelia is LMBR1 (Limb Development Membrane Protein 1). Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 76 Mesomelia refers to conditions in which the middle parts of limbs are disproportionately short. When... more...

Related Diseases for Mesomelia

Graphical network of the top 20 diseases related to Mesomelia:



Diseases related to Mesomelia

Symptoms & Phenotypes for Mesomelia

GenomeRNAi Phenotypes related to Mesomelia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.17 LMBR1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.17 SULF1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.17 SULF1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.17 LMBR1 SULF1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.17 LMBR1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.17 LMBR1

Drugs & Therapeutics for Mesomelia

Search Clinical Trials , NIH Clinical Center for Mesomelia

Genetic Tests for Mesomelia

Genetic tests related to Mesomelia:

# Genetic test Affiliating Genes
1 Mesomelia 29

Anatomical Context for Mesomelia

Publications for Mesomelia

Articles related to Mesomelia:

# Title Authors Year
1
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome. ( 29517766 )
2018
2
A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. ( 28328141 )
2017
3
A novel mutation (g.106737G&amp;gt;T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. ( 24478176 )
2014
4
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. ( 20602915 )
2010
5
Metaphyseal chondrodysplasia, upper limb mesomelia and normal height (mesomelic dysplasia camera type): second report in a Mexican patient. ( 18203165 )
2008
6
Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness. ( 15954110 )
2005
7
Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height. ( 12955769 )
2003
8
Brachydactyly, mesomelia, mental retardation, aortic dilatation, mitral valve prolapse, and characteristic face. ( 8484398 )
1993
9
New syndrome: renal dysplasia, mesomelia, and radiohumeral fusion. ( 6711618 )
1984
10
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? ( 641945 )
1978

Variations for Mesomelia

Expression for Mesomelia

Search GEO for disease gene expression data for Mesomelia.

Pathways for Mesomelia

GO Terms for Mesomelia

Sources for Mesomelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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