MCID: BCK015
MIFTS: 7

Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

MalaCards integrated aliases for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11:

Name: Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 59
Mosaic Paternal Uniparental Disomy of Chromosome 11 59
Upd(11)pat 59

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.3
Orphanet 59 ORPHA96193

Summaries for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

MalaCards based summary : Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11, is also known as mosaic paternal uniparental disomy of chromosome 11.

Related Diseases for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

Diseases in the Beckwith-Wiedemann Syndrome family:

Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15
Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11

Symptoms & Phenotypes for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

Search Clinical Trials , NIH Clinical Center for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11

Genetic Tests for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

Anatomical Context for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

Publications for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

Articles related to Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11:

# Title Authors PMID Year
1
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
2
Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome. 38
25171146 2015

Variations for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

Expression for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

Search GEO for disease gene expression data for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11.

Pathways for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

GO Terms for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

Sources for Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of...

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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