MCID: ANG053
MIFTS: 18

Angelman Syndrome Due to Maternal 15q11q13 Deletion

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

Aliases & Classifications for Angelman Syndrome Due to Maternal 15q11q13 Deletion

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). Affiliated tissues include tongue, and related phenotypes are global developmental delay and eeg with abnormally slow frequencies

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 9.6 UBE3A OCA2
2 prader-willi syndrome 9.5 UBE3A OCA2

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

Human phenotypes related to Angelman Syndrome Due to Maternal 15q11q13 Deletion:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 eeg with abnormally slow frequencies 58 31 hallmark (90%) Very frequent (99-80%) HP:0011203
3 cessation of head growth 58 31 hallmark (90%) Very frequent (99-80%) HP:0004485
4 seizure 31 hallmark (90%) HP:0001250
5 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
6 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
7 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
8 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
9 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
10 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
11 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
12 hypopigmentation of hair 58 31 frequent (33%) Frequent (79-30%) HP:0005599
13 protruding tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010808
14 flat occiput 58 31 frequent (33%) Frequent (79-30%) HP:0005469
15 iris hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007730
16 hypopigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0001010
17 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
18 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
19 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
20 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
21 short attention span 58 31 frequent (33%) Frequent (79-30%) HP:0000736
22 functional motor deficit 58 31 frequent (33%) Frequent (79-30%) HP:0004302
23 drooling 58 31 frequent (33%) Frequent (79-30%) HP:0002307
24 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
25 inappropriate laughter 58 31 frequent (33%) Frequent (79-30%) HP:0000748
26 delayed myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012448
27 tongue thrusting 58 31 frequent (33%) Frequent (79-30%) HP:0100703
28 abnormal eating behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100738
29 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
30 happy demeanor 58 31 frequent (33%) Frequent (79-30%) HP:0040082
31 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
32 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
33 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
34 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
35 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
36 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
37 gait imbalance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002141
38 broad-based gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002136
39 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
40 heat intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002046
41 mild microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0040196
42 limitation of movement at ankles 58 31 occasional (7.5%) Occasional (29-5%) HP:0010505
43 recurrent hand flapping 58 31 occasional (7.5%) Occasional (29-5%) HP:0100023
44 seizures 58 Very frequent (99-80%)
45 neurological speech impairment 58 Frequent (79-30%)
46 eeg abnormality 58 Very frequent (99-80%)
47 abnormality of movement 58 Occasional (29-5%)
48 neurodevelopmental delay 58 Very frequent (99-80%)
49 feeding difficulties 58 Frequent (79-30%)
50 postnatal microcephaly 58 Very frequent (99-80%)

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

MalaCards organs/tissues related to Angelman Syndrome Due to Maternal 15q11q13 Deletion:

40
Tongue

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
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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