Pitt-Hopkins-Like Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PTT042 MIFTS: 15	Pitt-Hopkins-Like Syndrome Categories: Rare diseases, Neuronal diseases, Fetal diseases, Genetic diseases, Mental diseases
Genes Variations Related diseases Pathways Download Expand all tables

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Aliases & Classifications for Pitt-Hopkins-Like Syndrome

MalaCards integrated aliases for Pitt-Hopkins-Like Syndrome:

Name: Pitt-Hopkins-Like Syndrome ⁵³ ⁵⁹ ⁶

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁹ ORPHA221150

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Summaries for Pitt-Hopkins-Like Syndrome

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

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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 2	33.5	LOC101927089 NRXN1
2	pitt-hopkins-like syndrome 1	12.8
3	autism 15	9.9	CNTNAP2 LOC105375554
4	pitt-hopkins syndrome	9.9	CNTNAP2 NRXN1
5	pervasive developmental disorder	9.8	CNTNAP2 NRXN1
6	autism spectrum disorder	9.6	CNTNAP2 NRXN1

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

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Symptoms & Phenotypes for Pitt-Hopkins-Like Syndrome

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Drugs & Therapeutics for Pitt-Hopkins-Like Syndrome

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

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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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Genes for Pitt-Hopkins-Like Syndrome

Genes related to Pitt-Hopkins-Like Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NRXN1	Neurexin 1	Protein Coding	391.89	Causative germline mutation ⁵⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)
2	CNTNAP2	Contactin Associated Protein Like 2	Protein Coding	380.72	Causative germline mutation ⁵⁹ GeneCards inferred via : Disorders Variants (show sections)
3	LOC105375554	Uncharacterized LOC105375554	RNA Gene	9.91	GeneCards inferred via : Variants (show sections)
4	LOC730100	Uncharacterized LOC730100	RNA Gene	9.28	GeneCards inferred via : Variants (show sections)
5	LOC101927089	Uncharacterized LOC101927089	RNA Gene	8.84	GeneCards inferred via : Variants (show sections)
6	LOC107986721	Uncharacterized LOC107986721	RNA Gene	8.04	GeneCards inferred via : Variants (show sections)

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Variations for Pitt-Hopkins-Like Syndrome

ClinVar genetic disease variations for Pitt-Hopkins-Like Syndrome:

⁶

(show top 50) (show all 488)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NRXN1	NM_001135659.2(NRXN1): c.818A> G (p.Asp273Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144049982	GRCh37	Chromosome 2, 51253562: 51253562
2	NRXN1	NM_001135659.2(NRXN1): c.818A> G (p.Asp273Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144049982	GRCh38	Chromosome 2, 51026424: 51026424
3	CNTNAP2	NM_014141.5(CNTNAP2): c.1504C> G (p.Leu502Val)	single nucleotide variant	Uncertain significance	rs368470905	GRCh37	Chromosome 7, 147092706: 147092706
4	CNTNAP2	NM_014141.5(CNTNAP2): c.1504C> G (p.Leu502Val)	single nucleotide variant	Uncertain significance	rs368470905	GRCh38	Chromosome 7, 147395614: 147395614
5	NRXN1	NM_001135659.2(NRXN1): c.569A> G (p.Asn190Ser)	single nucleotide variant	Uncertain significance	rs200792504	GRCh37	Chromosome 2, 51254843: 51254843
6	NRXN1	NM_001135659.2(NRXN1): c.569A> G (p.Asn190Ser)	single nucleotide variant	Uncertain significance	rs200792504	GRCh38	Chromosome 2, 51027705: 51027705
7	CNTNAP2	NM_014141.5(CNTNAP2): c.1311C> T (p.Ile437=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56356283	GRCh37	Chromosome 7, 146829564: 146829564
8	CNTNAP2	NM_014141.5(CNTNAP2): c.1311C> T (p.Ile437=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56356283	GRCh38	Chromosome 7, 147132472: 147132472
9	CNTNAP2	NM_014141.5(CNTNAP2): c.2356G> T (p.Val786Leu)	single nucleotide variant	Benign/Likely benign	rs138517537	GRCh37	Chromosome 7, 147675054: 147675054
10	CNTNAP2	NM_014141.5(CNTNAP2): c.2356G> T (p.Val786Leu)	single nucleotide variant	Benign/Likely benign	rs138517537	GRCh38	Chromosome 7, 147977962: 147977962
11	CNTNAP2	NM_014141.5(CNTNAP2): c.945C> G (p.Thr315=)	single nucleotide variant	Uncertain significance	rs794727872	GRCh37	Chromosome 7, 146825790: 146825790
12	CNTNAP2	NM_014141.5(CNTNAP2): c.945C> G (p.Thr315=)	single nucleotide variant	Uncertain significance	rs794727872	GRCh38	Chromosome 7, 147128698: 147128698
13	NRXN1	NM_001135659.2(NRXN1): c.4124C> T (p.Thr1375Ile)	single nucleotide variant	Uncertain significance	rs200672080	GRCh37	Chromosome 2, 50280533: 50280533
14	NRXN1	NM_001135659.2(NRXN1): c.4124C> T (p.Thr1375Ile)	single nucleotide variant	Uncertain significance	rs200672080	GRCh38	Chromosome 2, 50053395: 50053395
15	NRXN1	NM_001135659.2(NRXN1): c.3210A> C (p.Gly1070=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201886024	GRCh37	Chromosome 2, 50699590: 50699590
16	NRXN1	NM_001135659.2(NRXN1): c.3210A> C (p.Gly1070=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201886024	GRCh38	Chromosome 2, 50472452: 50472452
17	NRXN1	NM_001135659.2(NRXN1): c.587C> T (p.Pro196Leu)	single nucleotide variant	Uncertain significance	rs199836119	GRCh37	Chromosome 2, 51254825: 51254825
18	NRXN1	NM_001135659.2(NRXN1): c.587C> T (p.Pro196Leu)	single nucleotide variant	Uncertain significance	rs199836119	GRCh38	Chromosome 2, 51027687: 51027687
19	CNTNAP2	NM_014141.5(CNTNAP2): c.837G> A (p.Val279=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143507886	GRCh38	Chromosome 7, 147121061: 147121061
20	CNTNAP2	NM_014141.5(CNTNAP2): c.837G> A (p.Val279=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143507886	GRCh37	Chromosome 7, 146818153: 146818153
21	CNTNAP2	NM_014141.5(CNTNAP2): c.1480G> A (p.Glu494Lys)	single nucleotide variant	Uncertain significance	rs149032771	GRCh37	Chromosome 7, 146997364: 146997364
22	CNTNAP2	NM_014141.5(CNTNAP2): c.1480G> A (p.Glu494Lys)	single nucleotide variant	Uncertain significance	rs149032771	GRCh38	Chromosome 7, 147300272: 147300272
23	CNTNAP2	NM_014141.5(CNTNAP2): c.1777+7G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs770951811	GRCh37	Chromosome 7, 147183140: 147183140
24	CNTNAP2	NM_014141.5(CNTNAP2): c.1777+7G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs770951811	GRCh38	Chromosome 7, 147486048: 147486048
25	CNTNAP2	NM_014141.5(CNTNAP2): c.1786G> A (p.Glu596Lys)	single nucleotide variant	Uncertain significance	rs141064983	GRCh37	Chromosome 7, 147259238: 147259238
26	CNTNAP2	NM_014141.5(CNTNAP2): c.1786G> A (p.Glu596Lys)	single nucleotide variant	Uncertain significance	rs141064983	GRCh38	Chromosome 7, 147562146: 147562146
27	CNTNAP2	NM_014141.5(CNTNAP2): c.3155G> A (p.Arg1052His)	single nucleotide variant	Uncertain significance	rs374739970	GRCh37	Chromosome 7, 147914524: 147914524
28	CNTNAP2	NM_014141.5(CNTNAP2): c.3155G> A (p.Arg1052His)	single nucleotide variant	Uncertain significance	rs374739970	GRCh38	Chromosome 7, 148217432: 148217432
29	NRXN1	NM_001135659.2(NRXN1): c.4368G> A (p.Pro1456=)	single nucleotide variant	Uncertain significance	rs151195816	GRCh37	Chromosome 2, 50149358: 50149358
30	NRXN1	NM_001135659.2(NRXN1): c.4368G> A (p.Pro1456=)	single nucleotide variant	Uncertain significance	rs151195816	GRCh38	Chromosome 2, 49922220: 49922220
31	CNTNAP2	NM_014141.5(CNTNAP2): c.3476-15C> A	single nucleotide variant	Likely benign	rs77706740	GRCh38	Chromosome 7, 148383634: 148383634
32	CNTNAP2	NM_014141.5(CNTNAP2): c.3476-15C> A	single nucleotide variant	Likely benign	rs77706740	GRCh37	Chromosome 7, 148080726: 148080726
33	NRXN1	NM_001135659.2(NRXN1): c.*2766A> G	single nucleotide variant	Uncertain significance	rs886056155	GRCh37	Chromosome 2, 50146316: 50146316
34	NRXN1	NM_001135659.2(NRXN1): c.*2766A> G	single nucleotide variant	Uncertain significance	rs886056155	GRCh38	Chromosome 2, 49919178: 49919178
35	NRXN1	NM_001135659.2(NRXN1): c.2672_2675dupTTAG	duplication	Uncertain significance	rs556394274	GRCh38	Chromosome 2, 49919269: 49919272
36	NRXN1	NM_001135659.2(NRXN1): c.2672_2675dupTTAG	duplication	Uncertain significance	rs556394274	GRCh37	Chromosome 2, 50146407: 50146410
37	NRXN1	NM_001135659.2(NRXN1): c.*2514A> G	single nucleotide variant	Uncertain significance	rs746884216	GRCh38	Chromosome 2, 49919430: 49919430
38	NRXN1	NM_001135659.2(NRXN1): c.*2514A> G	single nucleotide variant	Uncertain significance	rs746884216	GRCh37	Chromosome 2, 50146568: 50146568
39	NRXN1	NM_001135659.2(NRXN1): c.2387_2389dupGAT	duplication	Uncertain significance	rs530539369	GRCh37	Chromosome 2, 50146693: 50146695
40	NRXN1	NM_001135659.2(NRXN1): c.2387_2389dupGAT	duplication	Uncertain significance	rs530539369	GRCh38	Chromosome 2, 49919555: 49919557
41	NRXN1	NM_001135659.2(NRXN1): c.*2384delT	deletion	Uncertain significance	rs879374430	GRCh37	Chromosome 2, 50146698: 50146698
42	NRXN1	NM_001135659.2(NRXN1): c.*2384delT	deletion	Uncertain significance	rs879374430	GRCh38	Chromosome 2, 49919560: 49919560
43	NRXN1	NM_001135659.2(NRXN1): c.*2286C> A	single nucleotide variant	Uncertain significance	rs886056159	GRCh38	Chromosome 2, 49919658: 49919658
44	NRXN1	NM_001135659.2(NRXN1): c.*2286C> A	single nucleotide variant	Uncertain significance	rs886056159	GRCh37	Chromosome 2, 50146796: 50146796
45	NRXN1	NM_001135659.2(NRXN1): c.1723_1724delAT	deletion	Uncertain significance	rs886056160	GRCh37	Chromosome 2, 50147358: 50147359
46	NRXN1	NM_001135659.2(NRXN1): c.1723_1724delAT	deletion	Uncertain significance	rs886056160	GRCh38	Chromosome 2, 49920220: 49920221
47	NRXN1	NM_001135659.2(NRXN1): c.*1090G> A	single nucleotide variant	Uncertain significance	rs199680726	GRCh37	Chromosome 2, 50147992: 50147992
48	NRXN1	NM_001135659.2(NRXN1): c.*1090G> A	single nucleotide variant	Uncertain significance	rs199680726	GRCh38	Chromosome 2, 49920854: 49920854
49	NRXN1	NM_001135659.2(NRXN1): c.*941dupT	duplication	Likely benign	rs3839057	GRCh38	Chromosome 2, 49921003: 49921003
50	NRXN1	NM_001135659.2(NRXN1): c.*941dupT	duplication	Likely benign	rs3839057	GRCh37	Chromosome 2, 50148141: 50148141

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Expression for Pitt-Hopkins-Like Syndrome

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

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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	Cell adhesion molecules (CAMs) ³⁷	10.78	CNTNAP2 NRXN1

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GO Terms for Pitt-Hopkins-Like Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	neuron projection development	GO:0031175	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

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Sources for Pitt-Hopkins-Like Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁶ ClinVar

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⁹ Cosmic

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⁵⁹ Orphanet

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⁶⁶ Reactome

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⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia