MCID: UNP003
MIFTS: 12

Uniparental Disomy of Chromosome 11 malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Uniparental Disomy of Chromosome 11

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Aliases & Descriptions for Uniparental Disomy of Chromosome 11:

Name: Uniparental Disomy of Chromosome 11 48
Uniparental Disomy of 11 48 27
 
Paternal Uniparental Disomy for Chromosome 11 48

Classifications:



Summaries for Uniparental Disomy of Chromosome 11

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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

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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 1112.2
2silver-russell syndrome due to maternal uniparental disomy of chromosome 1112.2
3silver-russell syndrome9.9

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 11

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Drugs & Therapeutics for Uniparental Disomy of Chromosome 11

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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

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Genetic tests related to Uniparental Disomy of Chromosome 11:

id Genetic test Affiliating Genes
1 Uniparental Disomy of 1127

Anatomical Context for Uniparental Disomy of Chromosome 11

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Publications for Uniparental Disomy of Chromosome 11

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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

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Expression for genes affiliated with Uniparental Disomy of Chromosome 11

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

Pathways for genes affiliated with Uniparental Disomy of Chromosome 11

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GO Terms for genes affiliated with Uniparental Disomy of Chromosome 11

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Sources for Uniparental Disomy of Chromosome 11

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet