MCID: ANG059
MIFTS: 11

Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 60

Characteristics:

Orphanet epidemiological data:

60
angelman syndrome due to imprinting defect in 15q11-q13
Inheritance: Not applicable; Age of onset: Infancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 Q93.5
Orphanet 60 ORPHA411515

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 ATP10A (ATPase Phospholipid Transporting 10A (Putative)). 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 9.7 SNRPN UBE3A
2 prader-willi syndrome 9.6 SNRPN UBE3A
3 autism 9.5 SNRPN UBE3A
4 angelman syndrome 9.3 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:

27 (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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....