MCID: SLV015
MIFTS: 8

Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11

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

Aliases & Classifications for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

MalaCards integrated aliases for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11:

Name: Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 58
Upd(11)mat 58

Characteristics:

Orphanet epidemiological data:

58
silver-russell syndrome due to maternal uniparental disomy of chromosome 11
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.1
Orphanet 58 ORPHA231147

Summaries for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

MalaCards based summary : Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11, also known as upd(11)mat, is related to silver-russell syndrome 1 and diencephalic syndrome. Affiliated tissues include eye.

Related Diseases for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Diseases in the Silver-Russell Syndrome 1 family:

Silver-Russell Syndrome 3 Silver-Russell Syndrome 2
Silver-Russell Syndrome 4 Silver-Russell Syndrome 5
Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11
Silver-Russell Syndrome Due to a Point Mutation Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7

Diseases related to Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 1 10.3
2 diencephalic syndrome 10.3

Symptoms & Phenotypes for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Drugs & Therapeutics for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Search Clinical Trials , NIH Clinical Center for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11

Genetic Tests for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Anatomical Context for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

MalaCards organs/tissues related to Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11:

40
Eye

Publications for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Variations for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Expression for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Search GEO for disease gene expression data for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11.

Pathways for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

GO Terms for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Sources for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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