MCID: UNP003
MIFTS: 11

Uniparental Disomy of Chromosome 11 malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Uniparental Disomy of Chromosome 11

About this section

Aliases & Descriptions for Uniparental Disomy of Chromosome 11:

Name: Uniparental Disomy of Chromosome 11 46
Uniparental Disomy of 11 46 25
 
Paternal Uniparental Disomy for Chromosome 11 46

Classifications:



Summaries for Uniparental Disomy of Chromosome 11

About this section
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

About this section

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:

idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 1112.3
2silver-russell syndrome due to maternal uniparental disomy of chromosome 1112.3
3silver-russell syndrome10.1

Symptoms for Uniparental Disomy of Chromosome 11

About this section

Drugs & Therapeutics for Uniparental Disomy of Chromosome 11

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion SyndromesCompletedNCT00004351
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Uniparental Disomy of Chromosome 11

Genetic Tests for Uniparental Disomy of Chromosome 11

About this section

Genetic tests related to Uniparental Disomy of Chromosome 11:

id Genetic test Affiliating Genes
1 Uniparental Disomy of 1125

Anatomical Context for Uniparental Disomy of Chromosome 11

About this section

Animal Models for Uniparental Disomy of Chromosome 11 or affiliated genes

About this section

Publications for Uniparental Disomy of Chromosome 11

About this section

Articles related to Uniparental Disomy of Chromosome 11:

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

Variations for Uniparental Disomy of Chromosome 11

About this section

Expression for genes affiliated with Uniparental Disomy of Chromosome 11

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

Pathways for genes affiliated with Uniparental Disomy of Chromosome 11

About this section

GO Terms for genes affiliated with Uniparental Disomy of Chromosome 11

About this section

Sources for Uniparental Disomy of Chromosome 11

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet