MCID: BCK012
MIFTS: 12

Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 malady

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

Aliases & Classifications for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section
Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15:

Name: Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 54

Characteristics:

Orphanet epidemiological data:

54

Classifications:



External Ids:

Orphanet54 ORPHA231117
ICD10 via Orphanet31 Q87.3

Summaries for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section
MalaCards based summary: Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 is related to ehlers-danlos/osteogenesis imperfecta syndrome and ceroid lipofuscinosis, neuronal, 13, kufs type. An important gene associated with Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 is H19 (H19, Imprinted Maternally Expressed Transcript (Non-Protein Coding)).

Related Diseases for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section

Graphical network of diseases related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15:



Diseases related to beckwith-wiedemann syndrome due to imprinting defect of 11p15

Symptoms & Phenotypes for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Genetic Tests for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section

Anatomical Context for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section

Publications for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section

Variations for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section

Expression for genes affiliated with Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section
Search GEO for disease gene expression data for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15.

Pathways for genes affiliated with Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section

GO Terms for genes affiliated with Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section

Sources for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

About this section
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