MCID: SLV020
MIFTS: 15

Silver-Russell Syndrome Due to a Point Mutation

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare 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 60

Characteristics:

Orphanet epidemiological data:

60
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:

ICD10 via Orphanet 35 Q87.1
Orphanet 60 ORPHA397590

Summaries for Silver-Russell Syndrome Due to a Point Mutation

MalaCards based summary : Silver-Russell Syndrome Due to a Point Mutation is related to silver-russell syndrome and hemihyperplasia, isolated. An important gene associated with Silver-Russell Syndrome Due to a Point Mutation is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways/superpathways is Endochondral Ossification. Affiliated tissues include eye, and 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:

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# 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

MalaCards organs/tissues related to Silver-Russell Syndrome Due to a Point Mutation:

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Eye

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

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.16 CDKN1C IGF2
2 skeletal system development GO:0001501 8.96 CDKN1C IGF2
3 embryonic placenta morphogenesis GO:0060669 8.62 CDKN1C IGF2

Sources for Silver-Russell Syndrome Due to a Point Mutation

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
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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