MCID: ANG053
MIFTS: 9

Angelman Syndrome Due to Maternal 15q11q13 Deletion

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

Aliases & Classifications for Angelman Syndrome Due to Maternal 15q11q13 Deletion

MalaCards integrated aliases for Angelman Syndrome Due to Maternal 15q11q13 Deletion:

Name: Angelman Syndrome Due to Maternal 15q11q13 Deletion 60
Angelman Syndrome Due to Maternal Monosomy 15q11q13 60

Classifications:



External Ids:

ICD10 via Orphanet 35 Q93.5
Orphanet 60 ORPHA98794

Summaries for Angelman Syndrome Due to Maternal 15q11q13 Deletion

MalaCards based summary : Angelman Syndrome Due to Maternal 15q11q13 Deletion, also known as angelman syndrome due to maternal monosomy 15q11q13, is related to prader-willi syndrome. An important gene associated with Angelman Syndrome Due to Maternal 15q11q13 Deletion is OCA2 (OCA2 Melanosomal Transmembrane Protein). Related phenotype is no phenotypic analysis.

Related Diseases for Angelman Syndrome Due to Maternal 15q11q13 Deletion

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 Maternal 15q11q13 Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 prader-willi syndrome 9.5 OCA2 UBE3A

Symptoms & Phenotypes for Angelman Syndrome Due to Maternal 15q11q13 Deletion

MGI Mouse Phenotypes related to Angelman Syndrome Due to Maternal 15q11q13 Deletion:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.62 OCA2 UBE3A

Drugs & Therapeutics for Angelman Syndrome Due to Maternal 15q11q13 Deletion

Search Clinical Trials , NIH Clinical Center for Angelman Syndrome Due to Maternal 15q11q13 Deletion

Genetic Tests for Angelman Syndrome Due to Maternal 15q11q13 Deletion

Anatomical Context for Angelman Syndrome Due to Maternal 15q11q13 Deletion

Publications for Angelman Syndrome Due to Maternal 15q11q13 Deletion

Variations for Angelman Syndrome Due to Maternal 15q11q13 Deletion

Expression for Angelman Syndrome Due to Maternal 15q11q13 Deletion

Search GEO for disease gene expression data for Angelman Syndrome Due to Maternal 15q11q13 Deletion.

Pathways for Angelman Syndrome Due to Maternal 15q11q13 Deletion

GO Terms for Angelman Syndrome Due to Maternal 15q11q13 Deletion

Sources for Angelman Syndrome Due to Maternal 15q11q13 Deletion

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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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
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