MCID: PTT042
MIFTS: 13

Pitt-Hopkins-Like Syndrome malady

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

Aliases & Classifications for Pitt-Hopkins-Like Syndrome

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Aliases & Descriptions for Pitt-Hopkins-Like Syndrome:

Name: Pitt-Hopkins-Like Syndrome 48 54

Characteristics:

Orphanet epidemiological data:

54
pitt-hopkins-like syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA221150

Summaries for Pitt-Hopkins-Like Syndrome

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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 is Cell adhesion molecules (CAMs).

Related Diseases for Pitt-Hopkins-Like Syndrome

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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:

idRelated DiseaseScoreTop Affiliating Genes
1pitt-hopkins-like syndrome 212.7
2cortical dysplasia-focal epilepsy syndrome12.1
3plasma cell leukemia9.9CNTNAP2, NRXN1
4carnosinemia9.8CNTNAP2, NRXN1
5schizophrenia9.8CNTNAP2, NRXN1
6sexual disorder9.8CNTNAP2, NRXN1
7paraphilia disorder9.7CNTNAP2, NRXN1

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



Diseases related to pitt-hopkins-like syndrome

Symptoms & Phenotypes for Pitt-Hopkins-Like Syndrome

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Drugs & Therapeutics for Pitt-Hopkins-Like Syndrome

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Interventional clinical trials:

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

Genetic Tests for Pitt-Hopkins-Like Syndrome

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Anatomical Context for Pitt-Hopkins-Like Syndrome

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Publications for Pitt-Hopkins-Like Syndrome

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Variations for Pitt-Hopkins-Like Syndrome

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Expression for genes affiliated with Pitt-Hopkins-Like Syndrome

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

Pathways for genes affiliated with Pitt-Hopkins-Like Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.1CNTNAP2, NRXN1

GO Terms for genes affiliated with Pitt-Hopkins-Like Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099869.8CNTNAP2, NRXN1
2neuronal cell bodyGO:00430259.1CNTNAP2, NRXN1

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

idNameGO IDScoreTop Affiliating Genes
1adult behaviorGO:00305349.8CNTNAP2, NRXN1
2cell adhesionGO:00071559.7CNTNAP2, NRXN1
3learningGO:00076129.6CNTNAP2, NRXN1
4social behaviorGO:00351769.5CNTNAP2, NRXN1
5vocal learningGO:00422979.4CNTNAP2, NRXN1
6vocalization behaviorGO:00716259.1CNTNAP2, NRXN1

Sources for Pitt-Hopkins-Like Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet