MCID: ANG059
MIFTS: 11

Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Categories: Fetal diseases, Genetic diseases, Rare diseases, Neuronal 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 55

Characteristics:

Orphanet epidemiological data:

55
angelman syndrome due to imprinting defect in 15q11-q13
Inheritance: Not applicable; Age of onset: Infancy;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA411515
ICD10 via Orphanet 33 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 chromosomal disease and prader-willi syndrome. An important gene associated with Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 is UBE3A (Ubiquitin Protein Ligase E3A). Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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

Diseases in the Angelman Syndrome family:

Angelman Syndrome Due to a Point Mutation Angelman Syndrome Due to Imprinting Defect in 15q11-Q13
Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 Angelman Syndrome Due to Maternal 15q11q13 Deletion

Diseases related to Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosomal disease 9.4 SNRPN UBE3A
2 prader-willi syndrome 9.3 SNRPN UBE3A
3 angelman syndrome 9.2 ATP10A SNRPN UBE3A
4 autism 9.1 ATP10A SNRPN UBE3A

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:

25 (show all 11)
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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