MCID: ANG052
MIFTS: 8

Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15

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

Aliases & Classifications for Angelman Syndrome Due to Paternal Uniparental Disomy of...

MalaCards integrated aliases for Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15:

Name: Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 59
Upd(15)pat 59

Classifications:



External Ids:

Orphanet 59 ORPHA98795
ICD10 via Orphanet 34 Q93.5

Summaries for Angelman Syndrome Due to Paternal Uniparental Disomy of...

MalaCards based summary : Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15, also known as upd(15)pat, is related to angelman syndrome. An important gene associated with Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 is UBE3A (Ubiquitin Protein Ligase E3A).

Related Diseases for Angelman Syndrome Due to Paternal Uniparental Disomy of...

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 Paternal Uniparental Disomy of Chromosome 15 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 angelman syndrome 10.3

Symptoms & Phenotypes for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Drugs & Therapeutics for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Search Clinical Trials , NIH Clinical Center for Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15

Genetic Tests for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Anatomical Context for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Publications for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Articles related to Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15:

# Title Authors Year
1
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? ( 8030667 )
1994

Variations for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Expression for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Search GEO for disease gene expression data for Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15.

Pathways for Angelman Syndrome Due to Paternal Uniparental Disomy of...

GO Terms for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Sources for Angelman Syndrome Due to Paternal Uniparental Disomy of...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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