MCID: UNP003
MIFTS: 9

Uniparental Disomy of Chromosome 11

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Uniparental Disomy of Chromosome 11

MalaCards integrated aliases for Uniparental Disomy of Chromosome 11:

Name: Uniparental Disomy of Chromosome 11 54
Uniparental Disomy of 11 54 30
Paternal Uniparental Disomy for Chromosome 11 54

Classifications:



Summaries for Uniparental Disomy of Chromosome 11

MalaCards based summary : Uniparental Disomy of Chromosome 11, also known as uniparental disomy of 11, is related to beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 and silver-russell syndrome due to maternal uniparental disomy of chromosome 11. An important gene associated with Uniparental Disomy of Chromosome 11 is H19-ICR (H19/IGF2 Imprinting Control Region).

Related Diseases for Uniparental Disomy of Chromosome 11

Diseases in the Chromosome 5, Uniparental Disomy family:

Chromosome 10, Uniparental Disomy Chromosome 16, Uniparental Disomy
Chromosome 21, Uniparental Disomy Uniparental Disomy of Chromosome 11
Uniparental Disomy of Chromosome 2

Diseases related to Uniparental Disomy of Chromosome 11 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 12.5
2 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.5
3 silver-russell syndrome 10.1

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 11

Drugs & Therapeutics for Uniparental Disomy of Chromosome 11

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 Uniparental Disomy of Chromosome 11

Genetic Tests for Uniparental Disomy of Chromosome 11

Genetic tests related to Uniparental Disomy of Chromosome 11:

# Genetic test Affiliating Genes
1 Uniparental Disomy of 11 30

Anatomical Context for Uniparental Disomy of Chromosome 11

Publications for Uniparental Disomy of Chromosome 11

Articles related to Uniparental Disomy of Chromosome 11:

# Title Authors Year
1
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. ( 18474587 )
2008

Variations for Uniparental Disomy of Chromosome 11

Expression for Uniparental Disomy of Chromosome 11

Search GEO for disease gene expression data for Uniparental Disomy of Chromosome 11.

Pathways for Uniparental Disomy of Chromosome 11

GO Terms for Uniparental Disomy of Chromosome 11

Sources for Uniparental Disomy of Chromosome 11

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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