MCID: ANG042
MIFTS: 12

Angelman Syndrome-Like malady

Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Fetal diseases categories
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Summaries for Angelman Syndrome-Like

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Sources:
47OMIM, 33MalaCards
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MalaCards: Angelman Syndrome-Like is related to angelman syndrome. An important gene associated with Angelman Syndrome-Like is CDKL5 (cyclin-dependent kinase-like 5).

Description from OMIM:47 105830

Aliases & Classifications for Angelman Syndrome-Like

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47OMIM
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Classifications:



Aliases & Descriptions:

angelman syndrome-like 47


Related Diseases for Angelman Syndrome-Like

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Angelman Syndrome family:

Mecp2-Related Angelman-Like Syndrome Cdkl5-Related Angelman-Like Syndrome
angelman syndrome-like Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15
Angelman Syndrome Due to Maternal 15q11q13 Deletion

Diseases related to Angelman Syndrome-Like via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1angelman syndrome10.3

Symptoms for Angelman Syndrome-Like

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47OMIM
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Clinical features from OMIM:

105830

Drugs & Therapeutics for Angelman Syndrome-Like

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Angelman Syndrome-Like

Search NIH Clinical Center for Angelman Syndrome-Like

Genetic Tests for Angelman Syndrome-Like

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Anatomical Context for Angelman Syndrome-Like

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Animal Models for Angelman Syndrome-Like or affiliated genes

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Publications for Angelman Syndrome-Like

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52PubMed
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Articles related to Angelman Syndrome-Like:

idTitleAuthorsYear
1
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. (20382277)
2010
2
Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype. (10563486)
1999

Variations for Angelman Syndrome-Like

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Angelman Syndrome-Like:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1UBE3AUBE3A, 15-BP DEL/7-BP INS, NT3240indelPathogenic/card/angelman_syndrome_like
2UBE3AUBE3A, 5-BP DUPduplicationPathogenic/card/angelman_syndrome_like
3UBE3AUBE3A, IVS9, A-G, -8single nucleotide variantPathogenic/card/angelman_syndrome_like
4UBE3AUBE3A, 2-BP DEL, 1344GTdeletionPathogenic/card/angelman_syndrome_like
5UBE3ANM_130838.1(UBE3A): c.1249C> T (p.Arg417Ter)single nucleotide variantPathogenicrs111033594GRCh37Chr 15, 25616012: 25616012
6UBE3ANM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter)single nucleotide variantPathogenicrs111033595GRCh37Chr 15, 25585366: 25585366
7UBE3ANM_130838.1(UBE3A): c.316A> C (p.Thr106Pro)single nucleotide variantPathogenicrs111033596GRCh37Chr 15, 25616945: 25616945
8UBE3ANM_130838.1(UBE3A): c.389T> C (p.Ile130Thr)single nucleotide variantPathogenicrs111033597GRCh37Chr 15, 25616872: 25616872
9UBE3AUBE3A, 4-BP DEL, 3093AAGAdeletionPathogenic
10UBE3AUBE3A, 2-BP DEL, 1930AGdeletionPathogenic
11UBE3AUBE3A, 4-BP DUP, EX10, GAGGduplicationPathogenic

Expression for genes affiliated with Angelman Syndrome-Like

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Angelman Syndrome-Like

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Pathways for genes affiliated with Angelman Syndrome-Like

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Compounds for genes affiliated with Angelman Syndrome-Like

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GO Terms for genes affiliated with Angelman Syndrome-Like

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Products for genes affiliated with Angelman Syndrome-Like

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Angelman Syndrome-Like

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet