MCID: PPP002
MIFTS: 7

Ppp2r5d-Related Neurodevelopmental Disorder

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Ppp2r5d-Related Neurodevelopmental Disorder

MalaCards integrated aliases for Ppp2r5d-Related Neurodevelopmental Disorder:

Name: Ppp2r5d-Related Neurodevelopmental Disorder 24

Characteristics:

GeneReviews:

24
Penetrance There is no evidence of reduced penetrance; the majority of the reported pathogenic variants (22/23) are confirmed de novo. parental results were not available for one affected individual.

Classifications:



Summaries for Ppp2r5d-Related Neurodevelopmental Disorder

MalaCards based summary : Ppp2r5d-Related Neurodevelopmental Disorder is related to ataxia and polyneuropathy, adult-onset and mental retardation, autosomal dominant 35. An important gene associated with Ppp2r5d-Related Neurodevelopmental Disorder is PPP2R5D (Protein Phosphatase 2 Regulatory Subunit B'Delta).

GeneReviews: NBK536360

Related Diseases for Ppp2r5d-Related Neurodevelopmental Disorder

Diseases in the Chd2-Related Neurodevelopmental Disorders family:

Grin1-Related Neurodevelopmental Disorder Grin2b-Related Neurodevelopmental Disorder
Ppp2r5d-Related Neurodevelopmental Disorder Pura-Related Neurodevelopmental Disorders

Diseases related to Ppp2r5d-Related Neurodevelopmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.3
2 mental retardation, autosomal dominant 35 10.3
3 autism spectrum disorder 10.3
4 hypotonia 10.3

Symptoms & Phenotypes for Ppp2r5d-Related Neurodevelopmental Disorder

Drugs & Therapeutics for Ppp2r5d-Related Neurodevelopmental Disorder

Search Clinical Trials , NIH Clinical Center for Ppp2r5d-Related Neurodevelopmental Disorder

Genetic Tests for Ppp2r5d-Related Neurodevelopmental Disorder

Anatomical Context for Ppp2r5d-Related Neurodevelopmental Disorder

Publications for Ppp2r5d-Related Neurodevelopmental Disorder

Articles related to Ppp2r5d-Related Neurodevelopmental Disorder:

# Title Authors PMID Year
1
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism. 24
29296277 2017
2
Timing, rates and spectra of human germline mutation. 24
26656846 2016
3
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. 24
26576547 2016
4
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. 24
25972378 2015
5
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 24
26168268 2015
6
Association between microdeletion and microduplication at 16p11.2 and autism. 24
18184952 2008
7
Structural variation of chromosomes in autism spectrum disorder. 24
18252227 2008
8
Recurrent 16p11.2 microdeletions in autism. 24
18156158 2008
9
PPP2R5D-Related Neurodevelopmental Disorder 61
30676711 2019

Variations for Ppp2r5d-Related Neurodevelopmental Disorder

Expression for Ppp2r5d-Related Neurodevelopmental Disorder

Search GEO for disease gene expression data for Ppp2r5d-Related Neurodevelopmental Disorder.

Pathways for Ppp2r5d-Related Neurodevelopmental Disorder

GO Terms for Ppp2r5d-Related Neurodevelopmental Disorder

Sources for Ppp2r5d-Related Neurodevelopmental Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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