MCID: ANG052
MIFTS: 8

Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 58
Upd(15)pat 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.5
Orphanet 58 ORPHA98795

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 and ataxia and polyneuropathy, adult-onset. 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 10.4
2 ataxia and polyneuropathy, adult-onset 10.4
3 uniparental disomy of chromosome 15 10.4
4 paternal uniparental disomy 10.4

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 PMID Year
1
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? 61
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 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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