MCID: MSM003
MIFTS: 15

Mesomelia

Categories: Rare diseases

Aliases & Classifications for Mesomelia

MalaCards integrated aliases for Mesomelia:

Name: Mesomelia 50 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 phenotype is Decreased shRNA abundance (Z-score < -2).

Wikipedia : 72 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
id 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:

id Genetic test Affiliating Genes
1 Mesomelia 29

Anatomical Context for Mesomelia

Publications for Mesomelia

Articles related to Mesomelia:

id Title Authors Year
1
A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. ( 28328141 )
2017
2
A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. ( 24478176 )
2014
3
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. ( 20602915 )
2010
4
Metaphyseal chondrodysplasia, upper limb mesomelia and normal height (mesomelic dysplasia camera type): second report in a Mexican patient. ( 18203165 )
2008
5
Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness. ( 15954110 )
2005
6
Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height. ( 12955769 )
2003
7
Brachydactyly, mesomelia, mental retardation, aortic dilatation, mitral valve prolapse, and characteristic face. ( 8484398 )
1993
8
New syndrome: renal dysplasia, mesomelia, and radiohumeral fusion. ( 6711618 )
1984
9
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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