MCID: PTT042
MIFTS: 13

Pitt-Hopkins-Like Syndrome malady

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Mental diseases

Aliases & Classifications for Pitt-Hopkins-Like Syndrome

Aliases & Descriptions for Pitt-Hopkins-Like Syndrome:

Name: Pitt-Hopkins-Like Syndrome 50 56

Characteristics:

Orphanet epidemiological data:

56
pitt-hopkins-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA221150

Summaries for Pitt-Hopkins-Like Syndrome

MalaCards based summary : Pitt-Hopkins-Like Syndrome is related to pitt-hopkins-like syndrome 2 and cortical dysplasia-focal epilepsy syndrome. An important gene associated with Pitt-Hopkins-Like Syndrome is NRXN1 (Neurexin 1), and among its related pathways/superpathways is Cell adhesion molecules (CAMs).

Related Diseases for Pitt-Hopkins-Like Syndrome

Diseases in the Pitt-Hopkins Syndrome family:

Pitt-Hopkins-Like Syndrome 2 Pitt-Hopkins-Like Syndrome

Diseases related to Pitt-Hopkins-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pitt-hopkins-like syndrome 2 12.7
2 cortical dysplasia-focal epilepsy syndrome 12.1
3 plasma cell leukemia 9.9 CNTNAP2 NRXN1
4 carnosinemia 9.8 CNTNAP2 NRXN1
5 schizophrenia 9.8 CNTNAP2 NRXN1
6 sexual disorder 9.8 CNTNAP2 NRXN1
7 paraphilia disorder 9.7 CNTNAP2 NRXN1

Graphical network of the top 20 diseases related to Pitt-Hopkins-Like Syndrome:



Diseases related to Pitt-Hopkins-Like Syndrome

Symptoms & Phenotypes for Pitt-Hopkins-Like Syndrome

Drugs & Therapeutics for Pitt-Hopkins-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Pitt-Hopkins-Like Syndrome

Genetic Tests for Pitt-Hopkins-Like Syndrome

Anatomical Context for Pitt-Hopkins-Like Syndrome

Publications for Pitt-Hopkins-Like Syndrome

Variations for Pitt-Hopkins-Like Syndrome

Expression for Pitt-Hopkins-Like Syndrome

Search GEO for disease gene expression data for Pitt-Hopkins-Like Syndrome.

Pathways for Pitt-Hopkins-Like Syndrome

Pathways related to Pitt-Hopkins-Like Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.78 CNTNAP2 NRXN1

GO Terms for Pitt-Hopkins-Like Syndrome

Cellular components related to Pitt-Hopkins-Like Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.96 CNTNAP2 NRXN1
2 neuronal cell body GO:0043025 8.62 CNTNAP2 NRXN1

Biological processes related to Pitt-Hopkins-Like Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.37 CNTNAP2 NRXN1
2 learning GO:0007612 9.32 CNTNAP2 NRXN1
3 social behavior GO:0035176 9.26 CNTNAP2 NRXN1
4 adult behavior GO:0030534 9.16 CNTNAP2 NRXN1
5 vocalization behavior GO:0071625 8.96 CNTNAP2 NRXN1
6 vocal learning GO:0042297 8.62 CNTNAP2 NRXN1

Sources for Pitt-Hopkins-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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