MCID: RRP002
MIFTS: 17

Rare Pervasive Developmental Disorder

Categories: Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Rare Pervasive Developmental Disorder

MalaCards integrated aliases for Rare Pervasive Developmental Disorder:

Name: Rare Pervasive Developmental Disorder 58 5
Rare Autism Spectrum Disorder 58
Rare Asd 58
Rare Pdd 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

MESH via Orphanet 44 D002659
UMLS via Orphanet 72 C0524528
Orphanet 58 ORPHA168778

Summaries for Rare Pervasive Developmental Disorder

MalaCards based summary: Rare Pervasive Developmental Disorder, also known as rare autism spectrum disorder, is related to childhood disintegrative disease and neurodegeneration with brain iron accumulation 1. An important gene associated with Rare Pervasive Developmental Disorder is SPTBN1 (Spectrin Beta, Non-Erythrocytic 1). Affiliated tissues include brain.

Related Diseases for Rare Pervasive Developmental Disorder

Diseases in the Pervasive Developmental Disorder family:

Rare Pervasive Developmental Disorder

Diseases related to Rare Pervasive Developmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 childhood disintegrative disease 11.3
2 neurodegeneration with brain iron accumulation 1 11.1
3 neurodegeneration with brain iron accumulation 2a 11.1
4 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 11.1
5 atypical autism 11.1
6 autism with port-wine stain 11.1
7 autism-facial port-wine stain syndrome 11.1
8 pervasive developmental disorder 9.2 UBE4A SPTBN1 FBXW7

Graphical network of the top 20 diseases related to Rare Pervasive Developmental Disorder:



Diseases related to Rare Pervasive Developmental Disorder

Symptoms & Phenotypes for Rare Pervasive Developmental Disorder

Drugs & Therapeutics for Rare Pervasive Developmental Disorder

Search Clinical Trials, NIH Clinical Center for Rare Pervasive Developmental Disorder

Genetic Tests for Rare Pervasive Developmental Disorder

Anatomical Context for Rare Pervasive Developmental Disorder

Organs/tissues related to Rare Pervasive Developmental Disorder:

MalaCards : Brain

Publications for Rare Pervasive Developmental Disorder

Articles related to Rare Pervasive Developmental Disorder:

# Title Authors PMID Year
1
iPSC toolbox for understanding and repairing disrupted brain circuits in autism. 62
34497379 2022
2
Tcf4 Regulates Synaptic Plasticity, DNA Methylation, and Memory Function. 62
27568567 2016
3
Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome. 62
23953133 2013
4
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism. 62
22558107 2012
5
A case study of childhood disintegrative disorder using systematic analysis of family home movies. 62
18454311 2008
6
Treatment-resistant chronic mental illness: is it Asperger's syndrome? 62
1427681 1992
7
Recurrent hypersomnia in two adolescent males with Asperger's syndrome. 62
1644738 1992
8
Firesetting in an adolescent boy with Asperger's syndrome. 62
2224382 1990

Variations for Rare Pervasive Developmental Disorder

ClinVar genetic disease variations for Rare Pervasive Developmental Disorder:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTBN1 NM_003128.3(SPTBN1):c.2275_2285del (p.Trp759fs) DEL Pathogenic
1326847 GRCh37: 2:54856546-54856556
GRCh38: 2:54629409-54629419
2 UBE4A NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs) DEL Likely Pathogenic
617553 rs1565532385 GRCh37: 11:118245679-118245680
GRCh38: 11:118374964-118374965
3 FBXW7 NM_001349798.2(FBXW7):c.1439A>G (p.Asp480Gly) SNV Likely Pathogenic
1703000 GRCh37: 4:153247363-153247363
GRCh38: 4:152326211-152326211

Expression for Rare Pervasive Developmental Disorder

Search GEO for disease gene expression data for Rare Pervasive Developmental Disorder.

Pathways for Rare Pervasive Developmental Disorder

GO Terms for Rare Pervasive Developmental Disorder

Sources for Rare Pervasive Developmental Disorder

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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