MCID: ANG053
MIFTS: 8

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 58
Angelman Syndrome Due to Maternal Monosomy 15q11q13 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.5
Orphanet 58 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 angelman syndrome and 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 angelman syndrome 9.4 UBE3A OCA2
2 prader-willi syndrome 9.2 UBE3A OCA2

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

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

45
# 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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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