MCID: UNP003
MIFTS: 12

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 52 58
Uniparental Disomy of 11 52 29
Paternal Uniparental Disomy for Chromosome 11 52
Upd(11) 58

Classifications:



External Ids:

Orphanet 58 ORPHA263034

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

Graphical network of the top 20 diseases related to Uniparental Disomy of Chromosome 11:



Diseases related to Uniparental Disomy of Chromosome 11

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 11

Drugs & Therapeutics for Uniparental Disomy of Chromosome 11

Search Clinical Trials , 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 29

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 PMID Year
1
Silver-Russell syndrome in Hong Kong. 61
27468965 2016
2
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. 61
27589201 2016
3
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. 61
26933465 2016
4
Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome. 61
25171146 2015
5
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. 61
18474587 2008
6
Amniotic trisomy 11 mosaicism--is it a benign finding? 61
16810710 2006
7
[Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland]. 61
16264244 2005
8
A new lethal syndrome of exomphalos, short limbs, and macrogonadism. 61
10051012 1999

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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