MCID: ANG053
MIFTS: 10

Angelman Syndrome Due to Maternal 15q11q13 Deletion

Categories: Neuronal diseases, Fetal diseases, Rare diseases, Genetic 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 59
Angelman Syndrome Due to Maternal Monosomy 15q11q13 59

Classifications:



External Ids:

Orphanet 59 ORPHA98794
ICD10 via Orphanet 34 Q93.5

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 and trehalase deficiency. An important gene associated with Angelman Syndrome Due to Maternal 15q11q13 Deletion is UBE3A (Ubiquitin Protein Ligase E3A). 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 9.2 OCA2 UBE3A
2 trehalase deficiency 9.0 OCA2 UBE3A

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

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

46
# 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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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46 MGI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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