MCID: SLV020
MIFTS: 12

Silver-Russell Syndrome Due to a Point Mutation

Categories: Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Silver-Russell Syndrome Due to a Point Mutation

MalaCards integrated aliases for Silver-Russell Syndrome Due to a Point Mutation:

Name: Silver-Russell Syndrome Due to a Point Mutation 59

Characteristics:

Orphanet epidemiological data:

59
silver-russell syndrome due to a point mutation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA397590
ICD10 via Orphanet 34 Q87.1

Summaries for Silver-Russell Syndrome Due to a Point Mutation

MalaCards based summary : Silver-Russell Syndrome Due to a Point Mutation is related to hemihyperplasia, isolated and spastic paraplegia 17, autosomal dominant. An important gene associated with Silver-Russell Syndrome Due to a Point Mutation is IGF2 (Insulin Like Growth Factor 2), and among its related pathways/superpathways is Endochondral Ossification. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Silver-Russell Syndrome Due to a Point Mutation

Graphical network of the top 20 diseases related to Silver-Russell Syndrome Due to a Point Mutation:



Diseases related to Silver-Russell Syndrome Due to a Point Mutation

Symptoms & Phenotypes for Silver-Russell Syndrome Due to a Point Mutation

GenomeRNAi Phenotypes related to Silver-Russell Syndrome Due to a Point Mutation according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.56 IGF2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.56 IGF2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.56 IGF2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.56 IGF2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.56 CDKN1C
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.56 IGF2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.56 CDKN1C IGF2
8 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 8.62 CDKN1C IGF2

Drugs & Therapeutics for Silver-Russell Syndrome Due to a Point Mutation

Search Clinical Trials , NIH Clinical Center for Silver-Russell Syndrome Due to a Point Mutation

Genetic Tests for Silver-Russell Syndrome Due to a Point Mutation

Anatomical Context for Silver-Russell Syndrome Due to a Point Mutation

Publications for Silver-Russell Syndrome Due to a Point Mutation

Variations for Silver-Russell Syndrome Due to a Point Mutation

Expression for Silver-Russell Syndrome Due to a Point Mutation

Search GEO for disease gene expression data for Silver-Russell Syndrome Due to a Point Mutation.

Pathways for Silver-Russell Syndrome Due to a Point Mutation

Pathways related to Silver-Russell Syndrome Due to a Point Mutation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 CDKN1C IGF2

GO Terms for Silver-Russell Syndrome Due to a Point Mutation

Sources for Silver-Russell Syndrome Due to a Point Mutation

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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