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 47 53

Characteristics:

Orphanet epidemiological data:

53
pitt-hopkins-like syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet53 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
3pityriasis lichenoides9.6CNTNAP2, NRXN1
4carnosinemia9.6CNTNAP2, NRXN1
5atypical autism9.5CNTNAP2, NRXN1
6schizophrenia9.5CNTNAP2, NRXN1
7autoimmune-related retinopathy and optic neuropathy9.5CNTNAP2, NRXN1
8sexual disorder9.3CNTNAP2, NRXN1

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



Diseases related to pitt-hopkins-like syndrome

Symptoms 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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Animal Models for Pitt-Hopkins-Like Syndrome or affiliated genes

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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:00099869.1CNTNAP2, NRXN1
2neuronal cell bodyGO:00430258.8CNTNAP2, NRXN1

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

idNameGO IDScoreTop Affiliating Genes
1vocal learningGO:00422979.4CNTNAP2, NRXN1
2vocalization behaviorGO:00716259.3CNTNAP2, NRXN1
3social behaviorGO:00351769.1CNTNAP2, NRXN1
4adult behaviorGO:00305349.0CNTNAP2, NRXN1
5learningGO:00076128.8CNTNAP2, NRXN1

Sources for Pitt-Hopkins-Like Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet