MCID: UNP003
MIFTS: 13

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 53 59
Uniparental Disomy of 11 53 29
Paternal Uniparental Disomy for Chromosome 11 53
Upd(11) 59

Classifications:



External Ids:

Orphanet 59 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. 38
27468965 2016
2
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. 38
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. 38
26933465 2016
4
Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome. 38
25171146 2015
5
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. 38
18474587 2008
6
Amniotic trisomy 11 mosaicism--is it a benign finding? 38
16810710 2006
7
[Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland]. 38
16264244 2005
8
A new lethal syndrome of exomphalos, short limbs, and macrogonadism. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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