MCID: RRP002
MIFTS: 11

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 58 6
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, 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. 61
18454311 2008
2
Treatment-resistant chronic mental illness: is it Asperger's syndrome? 61
1427681 1992
3
Recurrent hypersomnia in two adolescent males with Asperger's syndrome. 61
1644738 1992
4
Firesetting in an adolescent boy with Asperger's syndrome. 61
2224382 1990

Variations for Rare Pervasive Developmental Disorder

ClinVar genetic disease variations for Rare Pervasive Developmental Disorder:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UBE4A NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs)deletion Likely pathogenic 617553 rs1565532385 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 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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