Rare Pervasive Developmental Disorder disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

MESH via Orphanet ⁴⁴ D002659

UMLS via Orphanet ⁷² C0524528

Orphanet ⁵⁸ ORPHA168778

Sources

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.

Sources

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:

Sources

Symptoms & Phenotypes for Rare Pervasive Developmental Disorder

Sources

Drugs & Therapeutics for Rare Pervasive Developmental Disorder

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

Sources

Genetic Tests for Rare Pervasive Developmental Disorder

Sources

Anatomical Context for Rare Pervasive Developmental Disorder

Organs/tissues related to Rare Pervasive Developmental Disorder:

MalaCards : Brain

Sources

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	Chiola S...Shcheglovitov A	34497379	2022
2	Tcf4 Regulates Synaptic Plasticity, DNA Methylation, and Memory Function. ⁶²	Kennedy AJ...Sweatt JD	27568567	2016
3	Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome. ⁶²	Campbell NG...Sutcliffe JS	23953133	2013
4	High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism. ⁶²	Kelleher RJ...Margulies D	22558107	2012
5	A case study of childhood disintegrative disorder using systematic analysis of family home movies. ⁶²	Palomo R...Ozonoff S	18454311	2008
6	Treatment-resistant chronic mental illness: is it Asperger's syndrome? ⁶²	Ryan RM	1427681	1992
7	Recurrent hypersomnia in two adolescent males with Asperger's syndrome. ⁶²	Berthier ML...Tolosa ES	1644738	1992
8	Firesetting in an adolescent boy with Asperger's syndrome. ⁶²	Everall IP...LeCouteur A	2224382	1990

Sources

Genes for Rare Pervasive Developmental Disorder

Genes related to Rare Pervasive Developmental Disorder (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SPTBN1	Spectrin Beta, Non-Erythrocytic 1	Protein Coding	400	Pathogenic ⁵
2	FBXW7	F-Box And WD Repeat Domain Containing 7	Protein Coding	25	Likely pathogenic ⁵
3	UBE4A	Ubiquitination Factor E4A	Protein Coding	25	Likely pathogenic ⁵

Sources

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

Sources

Expression for Rare Pervasive Developmental Disorder

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

Sources

Pathways for Rare Pervasive Developmental Disorder

Sources

GO Terms for Rare Pervasive Developmental Disorder

Sources

Sources for Rare Pervasive Developmental Disorder

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: RRP002 MIFTS: 17	Rare Pervasive Developmental Disorder Categories: Mental diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Expand all tables