MCID: ANG059
MIFTS: 19

Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

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

Aliases & Classifications for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

MalaCards integrated aliases for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13:

Name: Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 58

Characteristics:

Orphanet epidemiological data:

58
angelman syndrome due to imprinting defect in 15q11-q13
Inheritance: Not applicable; Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

MalaCards based summary : Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 is related to combined oxidative phosphorylation deficiency 20 and chromosomal disease. An important gene associated with Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 is ATP10A (ATPase Phospholipid Transporting 10A (Putative)). Affiliated tissues include brain, and related phenotypes are eeg abnormality and abnormal facial shape

Related Diseases for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

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 Imprinting Defect in 15q11-Q13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 20 9.7 UBE3A SNRPN
2 chromosomal disease 9.6 UBE3A SNRPN
3 beckwith-wiedemann syndrome 9.6 UBE3A SNRPN
4 angelman syndrome 9.4 UBE3A SNRPN ATP10A
5 prader-willi syndrome 9.4 UBE3A SNRPN ATP10A
6 autism 9.4 UBE3A SNRPN ATP10A
7 autism spectrum disorder 9.3 UBE3A SNRPN ATP10A
8 disease of mental health 9.1 UBE3A SNRPN ATP10A

Graphical network of the top 20 diseases related to Angelman Syndrome Due to Imprinting Defect in 15q11-Q13:



Diseases related to Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Symptoms & Phenotypes for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Human phenotypes related to Angelman Syndrome Due to Imprinting Defect in 15q11-Q13:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
2 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
3 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
4 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
5 hypopigmentation of hair 58 31 frequent (33%) Frequent (79-30%) HP:0005599
6 iris hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007730
7 hypopigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0001010
8 polyphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002591
9 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
10 inappropriate laughter 58 31 frequent (33%) Frequent (79-30%) HP:0000748
11 happy demeanor 58 31 frequent (33%) Frequent (79-30%) HP:0040082
12 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
13 seizure 31 frequent (33%) HP:0001250
14 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
15 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
16 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
17 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
18 broad-based gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002136
19 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
20 hyperorality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000710
21 brain imaging abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0410263
22 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
23 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
24 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
25 sleep-wake cycle disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006979
26 cessation of head growth 58 31 occasional (7.5%) Occasional (29-5%) HP:0004485
27 seizures 58 Frequent (79-30%)
28 behavioral abnormality 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.17 ATP10A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.17 ATP10A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.17 UBE3A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.17 ATP10A UBE3A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.17 ATP10A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-70 9.17 UBE3A

Drugs & Therapeutics for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Search Clinical Trials , NIH Clinical Center for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Genetic Tests for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Anatomical Context for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

MalaCards organs/tissues related to Angelman Syndrome Due to Imprinting Defect in 15q11-Q13:

40
Brain

Publications for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Variations for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Expression for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Search GEO for disease gene expression data for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13.

Pathways for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

GO Terms for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

Sources for Angelman Syndrome Due to Imprinting Defect in 15q11-Q13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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