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

MCID: PTT042 MIFTS: 38	Pitt-Hopkins-Like Syndrome Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes 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 ²⁰ ⁵⁸ ²⁹ ⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

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 Muscle diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁸ ORPHA221150

SNOMED-CT via HPO ⁶⁸ 103276001 109504005 111266001 more

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Summaries for Pitt-Hopkins-Like Syndrome

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221150 Definition Pitt-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.

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. Related phenotypes are stereotypy and intellectual disability, severe

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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:

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	pitt-hopkins-like syndrome 2	32.7	NRXN1 LOC114827832
2	pitt-hopkins-like syndrome 1	32.3	NRXN1 CNTNAP2
3	pitt-hopkins syndrome	31.8	NRXN1 CNTNAP2
4	childhood disintegrative disease	9.8	NRXN1 CNTNAP2
5	echolalia	9.7	NRXN1 CNTNAP2
6	phelan-mcdermid syndrome	9.7	NRXN1 CNTNAP2
7	tic disorder	9.7	NRXN1 CNTNAP2
8	specific language impairment	9.7	NRXN1 CNTNAP2
9	speech disorder	9.7	NRXN1 CNTNAP2
10	gilles de la tourette syndrome	9.7	NRXN1 CNTNAP2
11	velocardiofacial syndrome	9.7	NRXN1 CNTNAP2
12	specific developmental disorder	9.7	NRXN1 CNTNAP2
13	pervasive developmental disorder	9.7	NRXN1 CNTNAP2
14	speech and communication disorders	9.6	NRXN1 CNTNAP2
15	benign epilepsy with centrotemporal spikes	9.6	NRXN1 CNTNAP2
16	west syndrome	9.6	NRXN1 CNTNAP2
17	fragile x syndrome	9.5	NRXN1 CNTNAP2
18	early infantile epileptic encephalopathy	9.4	NRXN1 CNTNAP2

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

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Symptoms & Phenotypes for Pitt-Hopkins-Like Syndrome

Human phenotypes related to Pitt-Hopkins-Like Syndrome:

³¹ (show top 50) (show all 52)

#	Description	HPO Frequency	HPO Source Accession
1	stereotypy ³¹	hallmark (90%)	HP:0000733
2	intellectual disability, severe ³¹	hallmark (90%)	HP:0010864
3	absent speech ³¹	hallmark (90%)	HP:0001344
4	severe global developmental delay ³¹	hallmark (90%)	HP:0011344
5	infantile muscular hypotonia ³¹	hallmark (90%)	HP:0008947
6	impaired social interactions ³¹	hallmark (90%)	HP:0000735
7	failure to thrive ³¹	frequent (33%)	HP:0001508
8	abnormal facial shape ³¹	frequent (33%)	HP:0001999
9	strabismus ³¹	frequent (33%)	HP:0000486
10	hyperventilation ³¹	frequent (33%)	HP:0002883
11	chronic constipation ³¹	frequent (33%)	HP:0012450
12	sleep-wake cycle disturbance ³¹	frequent (33%)	HP:0006979
13	seizure ³¹	frequent (33%)	HP:0001250
14	frontal bossing ³¹	occasional (7.5%)	HP:0002007
15	scoliosis ³¹	occasional (7.5%)	HP:0002650
16	dysphagia ³¹	occasional (7.5%)	HP:0002015
17	precocious puberty ³¹	occasional (7.5%)	HP:0000826
18	self-injurious behavior ³¹	occasional (7.5%)	HP:0100716
19	hearing impairment ³¹	occasional (7.5%)	HP:0000365
20	depressed nasal bridge ³¹	occasional (7.5%)	HP:0005280
21	mandibular prognathia ³¹	occasional (7.5%)	HP:0000303
22	gastroesophageal reflux ³¹	occasional (7.5%)	HP:0002020
23	brachycephaly ³¹	occasional (7.5%)	HP:0000248
24	cryptorchidism ³¹	occasional (7.5%)	HP:0000028
25	autism ³¹	occasional (7.5%)	HP:0000717
26	elevated hepatic transaminase ³¹	occasional (7.5%)	HP:0002910
27	cerebral cortical atrophy ³¹	occasional (7.5%)	HP:0002120
28	thin upper lip vermilion ³¹	occasional (7.5%)	HP:0000219
29	long philtrum ³¹	occasional (7.5%)	HP:0000343
30	flat occiput ³¹	occasional (7.5%)	HP:0005469
31	telecanthus ³¹	occasional (7.5%)	HP:0000506
32	ventricular septal defect ³¹	occasional (7.5%)	HP:0001629
33	pointed chin ³¹	occasional (7.5%)	HP:0000307
34	pulmonic stenosis ³¹	occasional (7.5%)	HP:0001642
35	high anterior hairline ³¹	occasional (7.5%)	HP:0009890
36	hyporeflexia ³¹	occasional (7.5%)	HP:0001265
37	plagiocephaly ³¹	occasional (7.5%)	HP:0001357
38	infra-orbital crease ³¹	occasional (7.5%)	HP:0100876
39	tricuspid regurgitation ³¹	occasional (7.5%)	HP:0005180
40	aggressive behavior ³¹	occasional (7.5%)	HP:0000718
41	hyperactivity ³¹	occasional (7.5%)	HP:0000752
42	poor speech ³¹	occasional (7.5%)	HP:0002465
43	prominent glabella ³¹	occasional (7.5%)	HP:0002057
44	hypsarrhythmia ³¹	occasional (7.5%)	HP:0002521
45	cerebral white matter hypoplasia ³¹	occasional (7.5%)	HP:0012430
46	drooling ³¹	occasional (7.5%)	HP:0002307
47	bruxism ³¹	occasional (7.5%)	HP:0003763
48	epileptic encephalopathy ³¹	occasional (7.5%)	HP:0200134
49	perivascular spaces ³¹	occasional (7.5%)	HP:0012520
50	high-pitched cry ³¹	occasional (7.5%)	HP:0025430

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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

Articles related to Pitt-Hopkins-Like Syndrome:

(show all 24)

#	Title	Authors	PMID	Year
1	CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. ⁶	Yuan B...Bi W	32576985	2020
2	Mutation analysis of the NRXN1 gene in autism spectrum disorders. ⁶	Onay H...Ozbaran B	28289584	2016
3	Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. ⁶	Smogavec M...Zweier C	27439707	2016
4	Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment. ⁶	Rodenas-Cuadrado P...Vernes SC	26843181	2016
5	RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. ⁶	Soueid J...Boustany RM	26742492	2016
6	Epilepsy with auditory features: A heterogeneous clinico-molecular disease. ⁶	Pippucci T...Bisulli F	27066544	2015
7	Rare copy number variants are common in young children with autism spectrum disorder. ⁶	Eriksson MA...Anderlid BM	25661985	2015
8	A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion. ⁶	Vinas-Jornet M...Guitart M	25614873	2014
9	Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis. ⁶	Imitola J...Khurana DS	25149956	2014
10	Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. ⁶	Bena F...Schoumans J	23533028	2013
11	Investigation of NRXN1 deletions: clinical and molecular characterization. ⁶	Dabell MP...Shaffer LG	23495017	2013
12	Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. ⁶	Chen X...Gusella JF	23472757	2013
13	Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. ⁶	Schaaf CP...Cheung SW	22617343	2012
14	Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation. ⁶	Falivelli G...Comoletti D	22872700	2012
15	Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. ⁶	Harrison V...Blair E	21964664	2011
16	Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. ⁶	Mikhail FM...Carroll AJ	22031302	2011
17	Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. ⁶	Gregor A...Zweier C	21827697	2011
18	CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. ⁶	Zweier C...Rauch A	19896112	2009
19	Gene associated with seizures, autism, and hepatomegaly in an Amish girl. ⁶	Jackman C...Sokol DK	19302947	2009
20	Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. ⁶	Strauss KA...Morton DH	16571880	2006
21	Possible case of Pitt-Hopkins syndrome in sibs. ⁶	Orrico A...Hayek G	11568923	2001
22	Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review. ⁶¹	Castronovo P...Persico AM	30873608	2020
23	A new case of Pitt-Hopkins-like syndrome 2? ⁶¹	Ruiz-Botero F...Pachajoa H	28343708	2019
24	Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder. ⁶¹	Brunner D...Biemans B	26273832	2015

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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	PubMed IDs
1	NRXN1	Neurexin 1	Protein Coding	818.55	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	19896112 25149956 21964664
2	CNTNAP2	Contactin Associated Protein 2	Protein Coding	796.8	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	16571880 22872700 19302947 (more) 19896112
3	LOC114827832	VISTA Enhancer Hs2343	Biological Region	7.5	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 1507)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NRXN1	NRXN1, 180-KB DEL, EX1-4	Deletion	Pathogenic	9040		GRCh37: GRCh38:
2	NRXN1	NM_001330078.2(NRXN1):c.2936C>G (p.Ser979Ter)	SNV	Pathogenic	9041	rs267606922	GRCh37: 2:50723177-50723177 GRCh38: 2:50496039-50496039
3	NRXN1	NRXN1, 79-KB DEL	Deletion	Pathogenic	30096		GRCh37: GRCh38:
4	NRXN1	NRXN1, 287-KB DEL	Deletion	Pathogenic	30097		GRCh37: GRCh38:
5	NRXN1 and overlap with 2 gene(s)	NC_000002.12:g.(?_50465422)_(51032054_?)del	Deletion	Pathogenic	539893		GRCh37: 2:50692560-51259192 GRCh38: 2:50465422-51032054
6	NRXN1	NC_000002.12:g.(?_50053251)_(50055064_?)del	Deletion	Pathogenic	539897		GRCh37: 2:50280389-50282202 GRCh38: 2:50053251-50055064
7	NRXN1	NC_000002.12:g.(?_50528605)_(50553045_?)del	Deletion	Pathogenic	584283		GRCh37: 2:50755743-50780183 GRCh38: 2:50528605-50553045
8	overlap with 3 genes		Deletion	Pathogenic	560146		GRCh37: 2:50516550-51259738 GRCh38: 2:50289412-51032600
9	NRXN1	NC_000002.12:g.(?_50921849)_(51032054_?)del	Deletion	Pathogenic	654673		GRCh37: 2:51148987-51259192 GRCh38: 2:50921849-51032054
10	NRXN1	NC_000002.12:g.(?_50538233)_(50553045_?)del	Deletion	Pathogenic	656843		GRCh37: 2:50765371-50780183 GRCh38: 2:50538233-50553045
11	NRXN1	NM_001330078.2(NRXN1):c.3876del (p.Phe1293fs)	Deletion	Pathogenic	661438	rs1573629114	GRCh37: 2:50280661-50280661 GRCh38: 2:50053523-50053523
12	NRXN1	NC_000002.12:g.(?_51026351)_(51032054_?)del	Deletion	Pathogenic	584106		GRCh37: 2:51253489-51259192 GRCh38: 2:51026351-51032054
13	NRXN1	NC_000002.12:g.(?_50620002)_(50623635_?)del	Deletion	Pathogenic	831017		GRCh37: 2:50847140-50850773 GRCh38:
14	NRXN1	NC_000002.12:g.(?_50620002)_(51032054_?)del	Deletion	Pathogenic	832928		GRCh37: 2:50847140-51259192 GRCh38:
15	NRXN1	NM_001330078.2(NRXN1):c.3442C>T (p.Arg1148Ter)	SNV	Pathogenic	947115		GRCh37: 2:50464031-50464031 GRCh38: 2:50236893-50236893
16	NRXN1	NM_001330078.2(NRXN1):c.-59_772+1193del	Deletion	Pathogenic	976336		GRCh37: 2:51253447-51255470 GRCh38: 2:51026309-51028332
17	NRXN1	NM_001330078.2(NRXN1):c.730_735delinsCTGG (p.Asp244fs)	Indel	Pathogenic	970430		GRCh37: 2:51254677-51254682 GRCh38: 2:51027539-51027544
18	CNTNAP2	NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs)	Deletion	Pathogenic	5490	rs730880275	GRCh37: 7:148080973-148080973 GRCh38: 7:148383881-148383881
19	CNTNAP2 and overlap with 2 gene(s)	NM_014141.5(CNTNAP2):c.(?_97)+117643_(1670_?)+6605del	Deletion	Pathogenic	5494		GRCh37: 7:145931708-147099477 GRCh38: 7:146234616-147402385
20	CNTNAP2	NM_014141.6(CNTNAP2):c.1671-1G>T	SNV	Pathogenic	5495	rs730880276	GRCh37: 7:147183026-147183026 GRCh38: 7:147485934-147485934
21	CNTNAP2 and overlap with 1 gene(s)	NM_014141.5(CNTNAP2):c.(?_550)+15275_(1349_?)-61303del	Deletion	Pathogenic	5496		GRCh37: 7:146756421-146935930 GRCh38: 7:147059329-147238838
22	CNTNAP2	NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter)	SNV	Pathogenic	438342	rs371642222	GRCh37: 7:147914415-147914415 GRCh38: 7:148217323-148217323
23	CNTNAP2	NM_014141.6(CNTNAP2):c.2046C>A (p.Cys682Ter)	SNV	Pathogenic	438345	rs201076428	GRCh37: 7:147336346-147336346 GRCh38: 7:147639254-147639254
24	CNTNAP2	NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter)	SNV	Pathogenic	438340	rs149032771	GRCh37: 7:146997364-146997364 GRCh38: 7:147300272-147300272
25	CNTNAP2 and overlap with 1 gene(s)	NG_007092.2:g.1180537_1293253del	Deletion	Pathogenic	438343		GRCh37: 7:146988989-147101705 GRCh38: 7:147291897-147404613
26	overlap with 2 genes	NC_000007.13:g.144520633_145949971del	Deletion	Pathogenic	438341		GRCh37: 7:144520633-145949971 GRCh38:
27	CNTNAP2	NM_014141.6(CNTNAP2):c.2964del (p.Cys989fs)	Deletion	Pathogenic	438344	rs1554400338	GRCh37: 7:147869523-147869523 GRCh38: 7:148172431-148172431
28	CNTNAP2	NC_000007.14:g.(?_146116001)_(146116993_?)del	Deletion	Pathogenic	468413		GRCh37: 7:145813093-145814085 GRCh38: 7:146116001-146116993
29	CNTNAP2	NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter)	SNV	Pathogenic	205244	rs752550849	GRCh37: 7:146997331-146997331 GRCh38: 7:147300239-147300239
30	CNTNAP2	NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs)	Deletion	Pathogenic	536312	rs1391540245	GRCh37: 7:147815323-147815323 GRCh38: 7:148118231-148118231
31	CNTNAP2	NC_000007.14:g.(?_147043887)_(147044074_?)del	Deletion	Pathogenic	468414		GRCh37: 7:146740979-146741166 GRCh38: 7:147043887-147044074
32	CNTNAP2 and overlap with 1 gene(s)	NC_000007.14:g.(?_147300141)_(147395780_?)del	Deletion	Pathogenic	583989		GRCh37: 7:146997233-147092872 GRCh38: 7:147300141-147395780
33	CNTNAP2	NM_014141.6(CNTNAP2):c.97+1G>A	SNV	Pathogenic	638371	rs972116002	GRCh37: 7:145814066-145814066 GRCh38: 7:146116974-146116974
34	CNTNAP2	NM_014141.6(CNTNAP2):c.636del (p.Ile212fs)	Deletion	Pathogenic	650946	rs1584848275	GRCh37: 7:146805323-146805323 GRCh38: 7:147108231-147108231
35	CNTNAP2	NM_014141.6(CNTNAP2):c.1687_1688TG[1] (p.Cys563_Glu564delinsTer)	Microsatellite	Pathogenic	468417	rs1554490549	GRCh37: 7:147183043-147183044 GRCh38: 7:147485951-147485952
36	CNTNAP2	NC_000007.14:g.(?_147132225)_(147132529_?)del	Deletion	Pathogenic	648528		GRCh37: 7:146829317-146829621 GRCh38: 7:147132225-147132529
37	CNTNAP2	NC_000007.14:g.(?_147043887)_(147300310_?)del	Deletion	Pathogenic	832710		GRCh37: 7:146740979-146997402 GRCh38:
38	CNTNAP2	NC_000007.14:g.(?_147300121)_(147395800_?)del	Deletion	Pathogenic	832857		GRCh37: 7:146997213-147092892 GRCh38:
39	overlap with 4 genes	NC_000007.14:g.(?_146116001)_(148847318_?)del	Deletion	Pathogenic	833114		GRCh37: 7:145813093-148544410 GRCh38:
40	overlap with 4 genes	NC_000007.14:g.(?_147395589)_(148847318_?)del	Deletion	Pathogenic	833138		GRCh37: 7:147092681-148544410 GRCh38:
41	CNTNAP2	NM_014141.6(CNTNAP2):c.3480_3481del (p.Gly1161fs)	Deletion	Pathogenic	468428	rs771827120	GRCh37: 7:148080745-148080746 GRCh38: 7:148383653-148383654
42	CNTNAP2	NM_014141.6(CNTNAP2):c.2217_2227del (p.Pro739_Lys740insTer)	Deletion	Pathogenic	802380	rs1585020100	GRCh37: 7:147600775-147600785 GRCh38: 7:147903683-147903693
43	CNTNAP2	NC_000007.14:g.(?_146774251)_(146839924_?)del	Deletion	Pathogenic	831327		GRCh37: 7:146471343-146537016 GRCh38:
44	CNTNAP2	NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)	SNV	Pathogenic	845872		GRCh37: 7:147926752-147926752 GRCh38: 7:148229660-148229660
45	CNTNAP2	NM_014141.6(CNTNAP2):c.3588_3591del (p.Asn1198fs)	Deletion	Pathogenic	858321		GRCh37: 7:148080851-148080854 GRCh38: 7:148383759-148383762
46	CNTNAP2	GRCh37/hg19 7q35(chr7:146997280-146997587)	copy number loss	Pathogenic	915982		GRCh37: 7:146997280-146997587 GRCh38:
47	CNTNAP2	NM_014141.6(CNTNAP2):c.1399G>T (p.Glu467Ter)	SNV	Pathogenic	933348		GRCh37: 7:146997283-146997283 GRCh38: 7:147300191-147300191
48	CNTNAP2	NM_014141.6(CNTNAP2):c.481dup (p.Ile161fs)	Duplication	Pathogenic	947629		GRCh37: 7:146741076-146741077 GRCh38: 7:147043984-147043985
49	CNTNAP2	NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter)	SNV	Pathogenic	95560	rs398124268	GRCh37: 7:147600711-147600711 GRCh38: 7:147903619-147903619
50	CNTNAP2	NM_014141.6(CNTNAP2):c.1488C>A (p.Tyr496Ter)	SNV	Pathogenic	1033663		GRCh37: 7:146997372-146997372 GRCh38: 7:147300280-147300280

Sources

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 ³⁶	10.8	NRXN1 CNTNAP2

Sources

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	neuronal cell body	GO:0043025	8.62	NRXN1 CNTNAP2

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	NRXN1 CNTNAP2
2	learning	GO:0007612	9.32	NRXN1 CNTNAP2
3	social behavior	GO:0035176	9.26	NRXN1 CNTNAP2
4	adult behavior	GO:0030534	9.16	NRXN1 CNTNAP2
5	vocalization behavior	GO:0071625	8.96	NRXN1 CNTNAP2
6	vocal learning	GO:0042297	8.62	NRXN1 CNTNAP2

Sources

Sources for Pitt-Hopkins-Like Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia