MCID: UNP003
MIFTS: 12

Uniparental Disomy of Chromosome 11 malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Uniparental Disomy of Chromosome 11

Aliases & Descriptions for Uniparental Disomy of Chromosome 11:

Name: Uniparental Disomy of Chromosome 11 50
Uniparental Disomy of 11 50 29
Paternal Uniparental Disomy for Chromosome 11 50

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:

id Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 12.2
2 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.2
3 silver-russell syndrome 9.9

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 11

Drugs & Therapeutics for Uniparental Disomy of Chromosome 11

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
2 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:

id Genetic test Affiliating Genes
1 Uniparental Disomy of 11 29

Anatomical Context for Uniparental Disomy of Chromosome 11

Publications for Uniparental Disomy of Chromosome 11

Articles related to Uniparental Disomy of Chromosome 11:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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