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 59
Upd(11)mat 59

Characteristics:

Orphanet epidemiological data:

59
silver-russell syndrome due to maternal uniparental disomy of chromosome 11
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.1
Orphanet 59 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 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 family:

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 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:

41
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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