MCID: ANG042
MIFTS: 18

Angelman Syndrome-Like malady

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

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MalaCards based summary: Angelman Syndrome-Like is related to angelman syndrome and rett syndrome. An important gene associated with Angelman Syndrome-Like is CDKL5 (cyclin-dependent kinase-like 5). The compound Adenosine triphosphate have been mentioned in the context of this disorder. Related mouse phenotype behavior/neurological.

Description from OMIM:46 105830

Aliases & Classifications for Angelman Syndrome-Like

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Angelman Syndrome-Like, Aliases & Descriptions:

Name: Angelman Syndrome-Like 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


Related Diseases for Angelman Syndrome-Like

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Graphical network of diseases related to Angelman Syndrome-Like:



Diseases related to angelman syndrome-like

Symptoms for Angelman Syndrome-Like

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Clinical features from OMIM:

105830

Drugs & Therapeutics for Angelman Syndrome-Like

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Drug clinical trials:

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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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MGI Mouse Phenotypes related to Angelman Syndrome-Like:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1CDKL5, UBE3A

Publications for Angelman Syndrome-Like

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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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Clinvar genetic disease variations for Angelman Syndrome-Like:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1UBE3AUBE3A, 15-BP DEL/7-BP INS, NT3240indelPathogenic
2UBE3AUBE3A, 5-BP DUPduplicationPathogenic
3UBE3AUBE3A, IVS9, A-G, -8single nucleotide variantPathogenic
4UBE3AUBE3A, 2-BP DEL, 1344GTdeletionPathogenic
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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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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Compounds related to Angelman Syndrome-Like according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Adenosine triphosphate24 1110.1CDKL5, UBE3A

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

Sources for Angelman Syndrome-Like

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet