MCID: ANG059
MIFTS: 11

Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

MalaCards integrated aliases for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13:

Name: Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 56

Characteristics:

Orphanet epidemiological data:

56
angelman syndrome due to imprinting defect in 15q11-q13
Inheritance: Not applicable; Age of onset: Infancy;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA411515
ICD10 via Orphanet 34 Q93.5

Summaries for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

MalaCards based summary : Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 is related to autoimmune-related retinopathy and optic neuropathy and dysbaric osteonecrosis. An important gene associated with Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 is UBE3A (Ubiquitin Protein Ligase E3A). Related phenotype is Increased shRNA abundance (Z-score > 2).

Related Diseases for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Graphical network of the top 20 diseases related to Angelman Syndrome Due to Imprinting Defect in 15q11-Q13:



Diseases related to Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Symptoms & Phenotypes for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

GenomeRNAi Phenotypes related to Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.4 ATP10A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.4 ATP10A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.4 UBE3A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.4 ATP10A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.4 ATP10A UBE3A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.4 UBE3A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.4 ATP10A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.4 ATP10A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.4 ATP10A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.4 UBE3A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.4 UBE3A

Drugs & Therapeutics for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Search Clinical Trials , NIH Clinical Center for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Genetic Tests for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Anatomical Context for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Publications for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Variations for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Expression for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Search GEO for disease gene expression data for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13.

Pathways for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

GO Terms for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Sources for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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