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 58
Mosaic Paternal Uniparental Disomy of Chromosome 11 58
Upd(11)pat 58

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.3
Orphanet 58 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
Clinical, Genetic, and Prognostic Features of Adrenocortical Tumors in Children: A 10-Year Single-Center Experience. 61
33178583 2020
2
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
3
Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome. 61
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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