MCID: RRP002
MIFTS: 12

Rare Pervasive Developmental Disorder

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Pervasive Developmental Disorder

MalaCards integrated aliases for Rare Pervasive Developmental Disorder:

Name: Rare Pervasive Developmental Disorder 59 6
Rare Autism Spectrum Disorder 59
Rare Asd 59
Rare Pdd 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MESH via Orphanet 45 D002659
UMLS via Orphanet 73 C0524528
Orphanet 59 ORPHA168778

Summaries for Rare Pervasive Developmental Disorder

MalaCards based summary : Rare Pervasive Developmental Disorder, is also known as rare autism spectrum disorder. An important gene associated with Rare Pervasive Developmental Disorder is UBE4A (Ubiquitination Factor E4A).

Related Diseases for Rare Pervasive Developmental Disorder

Diseases in the Pervasive Developmental Disorder family:

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

Publications for Rare Pervasive Developmental Disorder

Articles related to Rare Pervasive Developmental Disorder:

# Title Authors PMID Year
1
A case study of childhood disintegrative disorder using systematic analysis of family home movies. 38
18454311 2008
2
Treatment-resistant chronic mental illness: is it Asperger's syndrome? 38
1427681 1992
3
Recurrent hypersomnia in two adolescent males with Asperger's syndrome. 38
1644738 1992
4
Firesetting in an adolescent boy with Asperger's syndrome. 38
2224382 1990

Variations for Rare Pervasive Developmental Disorder

ClinVar genetic disease variations for Rare Pervasive Developmental Disorder:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 UBE4A NM_004788.4(UBE4A): c.1206_1207del (p.Lys403fs) deletion Likely pathogenic 11:118245679-118245680 11:118374964-118374965

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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