MCID: PTT042
MIFTS: 14

Pitt-Hopkins-Like Syndrome

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

Aliases & Classifications for Pitt-Hopkins-Like Syndrome

MalaCards integrated aliases for Pitt-Hopkins-Like Syndrome:

Name: Pitt-Hopkins-Like Syndrome 49 55

Characteristics:

Orphanet epidemiological data:

55
pitt-hopkins-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA221150

Summaries for Pitt-Hopkins-Like Syndrome

MalaCards based summary : Pitt-Hopkins-Like Syndrome is related to pitt-hopkins-like syndrome 1 and pitt-hopkins-like syndrome 2. 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 1 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:

# Related Disease Score Top Affiliating Genes
1 pitt-hopkins-like syndrome 1 12.8
2 pitt-hopkins-like syndrome 2 12.8
3 pitt-hopkins syndrome 9.7 CNTNAP2 NRXN1
4 pervasive developmental disorder 9.6 CNTNAP2 NRXN1
5 autism spectrum disorder 9.6 CNTNAP2 NRXN1
6 autism 9.5 CNTNAP2 NRXN1
7 schizophrenia 9.4 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.16 CNTNAP2 NRXN1
2 cell surface GO:0009986 8.96 CNTNAP2 NRXN1
3 neuronal cell body GO:0043025 8.62 CNTNAP2 NRXN1

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.4 CNTNAP2 NRXN1
2 neuron projection development GO:0031175 9.37 CNTNAP2 NRXN1
3 learning GO:0007612 9.32 CNTNAP2 NRXN1
4 social behavior GO:0035176 9.26 CNTNAP2 NRXN1
5 adult behavior GO:0030534 9.16 CNTNAP2 NRXN1
6 vocalization behavior GO:0071625 8.96 CNTNAP2 NRXN1
7 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....