MCID: ANG042
MIFTS: 12

Angelman Syndrome-Like malady

Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Fetal diseases categories

Summaries for Angelman Syndrome-Like

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Sources:
48OMIM, 34MalaCards
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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:48 105830

Aliases & Classifications for Angelman Syndrome-Like

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Sources:
48OMIM
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Classifications:



Aliases & Descriptions:

angelman syndrome-like 48


Related Diseases for Angelman Syndrome-Like

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Sources:
18GeneCards, 19GeneDecks
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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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Sources:
48OMIM
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Clinical features from OMIM:

105830

Drugs & Therapeutics for Angelman Syndrome-Like

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Angelman Syndrome-Like

Drug clinical trials:

Search ClinicalTrials for Angelman Syndrome-Like

Search NIH Clinical Center for Angelman Syndrome-Like

Search CenterWatch 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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Sources:
53PubMed
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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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Sources:
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Angelman Syndrome-Like

Search GEO for disease gene expression data for Angelman Syndrome-Like.

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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet