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

MCID: PTT042 MIFTS: 17	Pitt-Hopkins-Like Syndrome Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Related diseases Pathways 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 ²⁹ 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 Muscle diseases Respiratory 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

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 221150Disease definitionPitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.Visit the Orphanet disease page for more resources.

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	34.2	LOC101927089 NRXN1
2	pitt-hopkins-like syndrome 1	12.9
3	autism 15	10.0	CNTNAP2 LOC105375554
4	pitt-hopkins syndrome	10.0	CNTNAP2 NRXN1
5	pervasive developmental disorder	9.9	CNTNAP2 NRXN1
6	autism spectrum disorder	9.9	CNTNAP2 NRXN1
7	focal epilepsy	9.8	CNTNAP2 LOC105375554 LOC107986721

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

Genetic tests related to Pitt-Hopkins-Like Syndrome:

#	Genetic test	Affiliating Genes
1	Pitt-Hopkins-Like Syndrome ²⁹

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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	391.81	Causative germline mutation ⁵⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)
2	CNTNAP2	Contactin Associated Protein Like 2	Protein Coding	380.56	Causative germline mutation ⁵⁹ GeneCards inferred via : Disorders Variants (show sections)
3	LOC105375554	Uncharacterized LOC105375554	RNA Gene	9.84	GeneCards inferred via : Variants (show sections)
4	LOC730100	Uncharacterized LOC730100	RNA Gene	9.2	GeneCards inferred via : Variants (show sections)
5	LOC101927089	Uncharacterized LOC101927089	RNA Gene	8.89	GeneCards inferred via : Variants (show sections)
6	LOC107986721	Uncharacterized LOC107986721	RNA Gene	7.96	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 570)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NRXN1	NM_001135659.2(NRXN1): c.2505C> G (p.Pro835=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147984237	GRCh37	Chromosome 2, 50733745: 50733745
2	NRXN1	NM_001135659.2(NRXN1): c.2505C> G (p.Pro835=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147984237	GRCh38	Chromosome 2, 50506607: 50506607
3	NRXN1	NM_001135659.2(NRXN1): c.2541C> T (p.Asn847=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115211871	GRCh37	Chromosome 2, 50733709: 50733709
4	NRXN1	NM_001135659.2(NRXN1): c.2541C> T (p.Asn847=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115211871	GRCh38	Chromosome 2, 50506571: 50506571
5	NRXN1	NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201818223	GRCh37	Chromosome 2, 50724745: 50724745
6	NRXN1	NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201818223	GRCh38	Chromosome 2, 50497607: 50497607
7	NRXN1	NM_001135659.2(NRXN1): c.2850G> A (p.Lys950=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs192909520	GRCh37	Chromosome 2, 50724620: 50724620
8	NRXN1	NM_001135659.2(NRXN1): c.2850G> A (p.Lys950=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs192909520	GRCh38	Chromosome 2, 50497482: 50497482
9	NRXN1	NM_001135659.2(NRXN1): c.3132G> A (p.Lys1044=)	single nucleotide variant	Uncertain significance	rs201118246	GRCh37	Chromosome 2, 50723101: 50723101
10	NRXN1	NM_001135659.2(NRXN1): c.3132G> A (p.Lys1044=)	single nucleotide variant	Uncertain significance	rs201118246	GRCh38	Chromosome 2, 50495963: 50495963
11	NRXN1	NM_001135659.2(NRXN1): c.511C> T (p.Leu171=)	single nucleotide variant	Benign	rs1045874	GRCh37	Chromosome 2, 51254901: 51254901
12	NRXN1	NM_001135659.2(NRXN1): c.511C> T (p.Leu171=)	single nucleotide variant	Benign	rs1045874	GRCh38	Chromosome 2, 51027763: 51027763
13	CNTNAP2	NM_014141.5(CNTNAP2): c.1659G> A (p.Ala553=)	single nucleotide variant	Benign	rs34592169	GRCh37	Chromosome 7, 147092861: 147092861
14	CNTNAP2	NM_014141.5(CNTNAP2): c.1659G> A (p.Ala553=)	single nucleotide variant	Benign	rs34592169	GRCh38	Chromosome 7, 147395769: 147395769
15	CNTNAP2	NM_014141.5(CNTNAP2): c.1710G> A (p.Ser570=)	single nucleotide variant	Benign/Likely benign	rs2286128	GRCh37	Chromosome 7, 147183066: 147183066
16	CNTNAP2	NM_014141.5(CNTNAP2): c.1710G> A (p.Ser570=)	single nucleotide variant	Benign/Likely benign	rs2286128	GRCh38	Chromosome 7, 147485974: 147485974
17	CNTNAP2	NM_014141.5(CNTNAP2): c.1777+10A> G	single nucleotide variant	Benign	rs2286127	GRCh37	Chromosome 7, 147183143: 147183143
18	CNTNAP2	NM_014141.5(CNTNAP2): c.1777+10A> G	single nucleotide variant	Benign	rs2286127	GRCh38	Chromosome 7, 147486051: 147486051
19	CNTNAP2	NM_014141.5(CNTNAP2): c.2256-6A> T	single nucleotide variant	Benign/Likely benign	rs10240482	GRCh37	Chromosome 7, 147674948: 147674948
20	CNTNAP2	NM_014141.5(CNTNAP2): c.2256-6A> T	single nucleotide variant	Benign/Likely benign	rs10240482	GRCh38	Chromosome 7, 147977856: 147977856
21	CNTNAP2	NM_014141.5(CNTNAP2): c.2280A> G (p.Ser760=)	single nucleotide variant	Benign	rs10240503	GRCh37	Chromosome 7, 147674978: 147674978
22	CNTNAP2	NM_014141.5(CNTNAP2): c.2280A> G (p.Ser760=)	single nucleotide variant	Benign	rs10240503	GRCh38	Chromosome 7, 147977886: 147977886
23	CNTNAP2	NM_014141.5(CNTNAP2): c.3248-4A> G	single nucleotide variant	Benign	rs3779031	GRCh37	Chromosome 7, 147926734: 147926734
24	CNTNAP2	NM_014141.5(CNTNAP2): c.3248-4A> G	single nucleotide variant	Benign	rs3779031	GRCh38	Chromosome 7, 148229642: 148229642
25	CNTNAP2	NM_014141.5(CNTNAP2): c.3723G> A (p.Ala1241=)	single nucleotide variant	Benign	rs9648691	GRCh37	Chromosome 7, 148106490: 148106490
26	CNTNAP2	NM_014141.5(CNTNAP2): c.3723G> A (p.Ala1241=)	single nucleotide variant	Benign	rs9648691	GRCh38	Chromosome 7, 148409398: 148409398
27	CNTNAP2	NM_014141.5(CNTNAP2): c.479G> A (p.Arg160His)	single nucleotide variant	Uncertain significance	rs138738227	GRCh37	Chromosome 7, 146741075: 146741075
28	CNTNAP2	NM_014141.5(CNTNAP2): c.479G> A (p.Arg160His)	single nucleotide variant	Uncertain significance	rs138738227	GRCh38	Chromosome 7, 147043983: 147043983
29	CNTNAP2	NM_014141.5(CNTNAP2): c.551-11_551-10insG	insertion	Benign	rs35167289	GRCh37	Chromosome 7, 146805228: 146805229
30	CNTNAP2	NM_014141.5(CNTNAP2): c.551-11_551-10insG	insertion	Benign	rs35167289	GRCh38	Chromosome 7, 147108136: 147108137
31	CNTNAP2	NM_014141.5(CNTNAP2): c.681C> T (p.His227=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142984073	GRCh37	Chromosome 7, 146805369: 146805369
32	CNTNAP2	NM_014141.5(CNTNAP2): c.681C> T (p.His227=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142984073	GRCh38	Chromosome 7, 147108277: 147108277
33	CNTNAP2	NM_014141.5(CNTNAP2): c.1854C> T (p.Gly618=)	single nucleotide variant	Benign/Likely benign	rs61732849	GRCh37	Chromosome 7, 147259306: 147259306
34	CNTNAP2	NM_014141.5(CNTNAP2): c.1854C> T (p.Gly618=)	single nucleotide variant	Benign/Likely benign	rs61732849	GRCh38	Chromosome 7, 147562214: 147562214
35	CNTNAP2	NM_014141.5(CNTNAP2): c.318C> T (p.Ser106=)	single nucleotide variant	Benign/Likely benign	rs61732853	GRCh37	Chromosome 7, 146536912: 146536912
36	CNTNAP2	NM_014141.5(CNTNAP2): c.318C> T (p.Ser106=)	single nucleotide variant	Benign/Likely benign	rs61732853	GRCh38	Chromosome 7, 146839820: 146839820
37	CNTNAP2	NM_014141.5(CNTNAP2): c.3522A> T (p.Gly1174=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141078449	GRCh37	Chromosome 7, 148080787: 148080787
38	CNTNAP2	NM_014141.5(CNTNAP2): c.3522A> T (p.Gly1174=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141078449	GRCh38	Chromosome 7, 148383695: 148383695
39	CNTNAP2	NM_014141.5(CNTNAP2): c.3797-6C> T	single nucleotide variant	Benign/Likely benign	rs79777576	GRCh37	Chromosome 7, 148112503: 148112503
40	CNTNAP2	NM_014141.5(CNTNAP2): c.3797-6C> T	single nucleotide variant	Benign/Likely benign	rs79777576	GRCh38	Chromosome 7, 148415411: 148415411
41	NRXN1	NM_001135659.2(NRXN1): c.1278+5A> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201802152	GRCh37	Chromosome 2, 50848338: 50848338
42	NRXN1	NM_001135659.2(NRXN1): c.1278+5A> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201802152	GRCh38	Chromosome 2, 50621200: 50621200
43	NRXN1	NM_001135659.2(NRXN1): c.3369C> T (p.Pro1123=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs116236999	GRCh37	Chromosome 2, 50692695: 50692695
44	NRXN1	NM_001135659.2(NRXN1): c.3369C> T (p.Pro1123=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs116236999	GRCh38	Chromosome 2, 50465557: 50465557
45	NRXN1	NM_001135659.2(NRXN1): c.3528G> A (p.Thr1176=)	single nucleotide variant	Benign/Likely benign	rs80094872	GRCh37	Chromosome 2, 50464065: 50464065
46	NRXN1	NM_001135659.2(NRXN1): c.3528G> A (p.Thr1176=)	single nucleotide variant	Benign/Likely benign	rs80094872	GRCh38	Chromosome 2, 50236927: 50236927
47	NRXN1	NM_001135659.2(NRXN1): c.4188G> A (p.Thr1396=)	single nucleotide variant	Benign/Likely benign	rs74714098	GRCh37	Chromosome 2, 50280469: 50280469
48	NRXN1	NM_001135659.2(NRXN1): c.4188G> A (p.Thr1396=)	single nucleotide variant	Benign/Likely benign	rs74714098	GRCh38	Chromosome 2, 50053331: 50053331
49	NRXN1	NM_001135659.2(NRXN1): c.871+9G> A	single nucleotide variant	Benign/Likely benign	rs61658382	GRCh37	Chromosome 2, 51253500: 51253500
50	NRXN1	NM_001135659.2(NRXN1): c.871+9G> A	single nucleotide variant	Benign/Likely benign	rs61658382	GRCh38	Chromosome 2, 51026362: 51026362

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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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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

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²⁵ Genetics Home Reference

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²⁷ GEO DataSets

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³³ ICD10

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⁶¹ PharmGKB

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⁶⁶ Reactome

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia