MCID: SLV018
MIFTS: 12

Silver-Russell Syndrome Due to 11p15 Microduplication

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Silver-Russell Syndrome Due to 11p15 Microduplication

MalaCards integrated aliases for Silver-Russell Syndrome Due to 11p15 Microduplication:

Name: Silver-Russell Syndrome Due to 11p15 Microduplication 60

Characteristics:

Orphanet epidemiological data:

60
silver-russell syndrome due to 11p15 microduplication
Inheritance: Autosomal dominant,Not applicable;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q87.1
Orphanet 60 ORPHA231144

Summaries for Silver-Russell Syndrome Due to 11p15 Microduplication

MalaCards based summary : Silver-Russell Syndrome Due to 11p15 Microduplication is related to silver-russell syndrome and silver-russell syndrome due to an imprinting defect of 11p15. An important gene associated with Silver-Russell Syndrome Due to 11p15 Microduplication is IGF2 (Insulin Like Growth Factor 2). Affiliated tissues include eye, and related phenotype is Reduced mammosphere formation.

Related Diseases for Silver-Russell Syndrome Due to 11p15 Microduplication

Graphical network of the top 20 diseases related to Silver-Russell Syndrome Due to 11p15 Microduplication:



Diseases related to Silver-Russell Syndrome Due to 11p15 Microduplication

Symptoms & Phenotypes for Silver-Russell Syndrome Due to 11p15 Microduplication

GenomeRNAi Phenotypes related to Silver-Russell Syndrome Due to 11p15 Microduplication according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.62 H19 IGF2

Drugs & Therapeutics for Silver-Russell Syndrome Due to 11p15 Microduplication

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Silver-Russell Syndrome Due to 11p15 Microduplication

Genetic Tests for Silver-Russell Syndrome Due to 11p15 Microduplication

Anatomical Context for Silver-Russell Syndrome Due to 11p15 Microduplication

MalaCards organs/tissues related to Silver-Russell Syndrome Due to 11p15 Microduplication:

42
Eye

Publications for Silver-Russell Syndrome Due to 11p15 Microduplication

Variations for Silver-Russell Syndrome Due to 11p15 Microduplication

Expression for Silver-Russell Syndrome Due to 11p15 Microduplication

Search GEO for disease gene expression data for Silver-Russell Syndrome Due to 11p15 Microduplication.

Pathways for Silver-Russell Syndrome Due to 11p15 Microduplication

GO Terms for Silver-Russell Syndrome Due to 11p15 Microduplication

Sources for Silver-Russell Syndrome Due to 11p15 Microduplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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