PTHSL1
MCID: PTT029
MIFTS: 50

Pitt-Hopkins-Like Syndrome 1 (PTHSL1)

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

Aliases & Classifications for Pitt-Hopkins-Like Syndrome 1

MalaCards integrated aliases for Pitt-Hopkins-Like Syndrome 1:

Name: Pitt-Hopkins-Like Syndrome 1 57 72 29 6 70
Cortical Dysplasia-Focal Epilepsy Syndrome 57 12 58 72 13 15 70
Cdfes 57 12 58 72
Pthsl1 57 12 72
Cdfe Syndrome 12 58
Cortical Dysplasia-Focal Epilepsy Syndrome; Cdfes 57
Dysplasia, Cortical-Focal Epilepsy Syndrome 39
Pitt-Hopkins Like Syndrome 1 57
Pitt-Hopkins-Like Syndrome-1 12
Mesh; D006985 72
Mesh; D008607 72

Characteristics:

Orphanet epidemiological data:

58
cortical dysplasia-focal epilepsy syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset of seizures in infancy or early childhood


HPO:

31
pitt-hopkins-like syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090130
OMIM® 57 610042
MeSH 44 D054220
ICD10 32 Q04.8
ICD10 via Orphanet 33 Q04.8
UMLS via Orphanet 71 C1864887
Orphanet 58 ORPHA163681
UMLS 70 C1864887 C2750246

Summaries for Pitt-Hopkins-Like Syndrome 1

UniProtKB/Swiss-Prot : 72 Cortical dysplasia-focal epilepsy syndrome: A disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation develop.
Pitt-Hopkins-like syndrome 1: A syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones.

MalaCards based summary : Pitt-Hopkins-Like Syndrome 1, also known as cortical dysplasia-focal epilepsy syndrome, is related to pitt-hopkins-like syndrome 2 and pitt-hopkins syndrome. An important gene associated with Pitt-Hopkins-Like Syndrome 1 is CNTNAP2 (Contactin Associated Protein 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and Protein-protein interactions at synapses. Affiliated tissues include brain, and related phenotypes are macrocephaly and coarse facial features

Disease Ontology : 12 A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36.

OMIM® : 57 PTHSL1 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioral abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging (summary by Smogavec et al., 2016). (610042) (Updated 05-Apr-2021)

Related Diseases for Pitt-Hopkins-Like Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 pitt-hopkins-like syndrome 2 32.0 NRXN3 NRXN1 NLGN4X
2 pitt-hopkins syndrome 31.7 NRXN1 MECP2 CNTNAP2 CACNA1C
3 pitt-hopkins-like syndrome 10.3 NRXN1 CNTNAP2
4 valproate embryopathy 10.2 NLGN3 MECP2
5 ritscher-schinzel syndrome 2 10.2 NLGN4X NLGN2
6 landau-kleffner syndrome 10.1 MECP2 CNTNAP2
7 specific language impairment 10.1 NRXN1 NLGN4X CNTNAP2
8 gilles de la tourette syndrome 10.1 NRXN1 NLGN4X CNTNAP2
9 potocki-lupski syndrome 10.0 NRXN1 NLGN3 MECP2
10 velocardiofacial syndrome 10.0 NRXN1 MECP2 CNTNAP2
11 speech and communication disorders 10.0 NRXN1 MECP2 CNTNAP2
12 limbic encephalitis 10.0 CNTNAP2 CNTN2
13 hereditary spastic paraplegia 51 9.9 RIPPLY1 AP4E1
14 atypical autism 9.9 NRXN1 NLGN4X NLGN3 MECP2
15 timothy syndrome 9.9 MECP2 CACNA1C
16 articulation disorder 9.9 CNTNAP2 AP4E1
17 angelman syndrome 9.9 NRXN1 NLGN3 MECP2
18 bardet-biedl syndrome 9 9.9 RIPPLY1 AP4E1
19 tic disorder 9.9 NRXN2 NRXN1 NLGN4X NLGN3 CNTNAP2
20 echolalia 9.8 NRXN1 NLGN4X NLGN3 MECP2 CNTNAP2
21 early infantile epileptic encephalopathy 9.8 NRXN1 MECP2 CNTNAP2 CACNA1C
22 benign epilepsy with centrotemporal spikes 9.7 NRXN1 MECP2 CNTNAP2
23 asperger syndrome 9.7 NRXN1 NLGN4X NLGN3 NLGN1 MECP2
24 phelan-mcdermid syndrome 9.6 NRXN2 NRXN1 NLGN4X NLGN3 MECP2 CNTNAP2
25 speech disorder 9.6 NRXN1 MECP2 CNTNAP2 AP4E1
26 specific developmental disorder 9.6 NRXN3 NRXN1 NLGN4X NLGN3 MECP2 CNTNAP2
27 bipolar disorder 9.5 NRXN1 MECP2 CNTNAP2 CACNA1C
28 childhood disintegrative disease 9.5 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 MECP2
29 kaufman oculocerebrofacial syndrome 9.4 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
30 kagami-ogata syndrome 9.2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
31 autism spectrum disorder 9.2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 MECP2
32 fragile x syndrome 9.1 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
33 schizophrenia 8.9 NRXN3 NRXN1 NLGN4X NLGN1 MECP2 GRID1
34 pervasive developmental disorder 8.8 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
35 autism 8.8 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
36 disease of mental health 8.2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2

Graphical network of the top 20 diseases related to Pitt-Hopkins-Like Syndrome 1:



Diseases related to Pitt-Hopkins-Like Syndrome 1

Symptoms & Phenotypes for Pitt-Hopkins-Like Syndrome 1

Human phenotypes related to Pitt-Hopkins-Like Syndrome 1:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 coarse facial features 31 very rare (1%) HP:0000280
3 hyperventilation 31 very rare (1%) HP:0002883
4 focal cortical dysplasia 31 very rare (1%) HP:0032046
5 intellectual disability 31 HP:0001249
6 spasticity 31 HP:0001257
7 eeg abnormality 31 HP:0002353
8 ataxia 31 HP:0001251
9 global developmental delay 31 HP:0001263
10 stereotypy 31 HP:0000733
11 absent speech 31 HP:0001344
12 reduced tendon reflexes 31 HP:0001315
13 hyporeflexia 31 HP:0001265
14 delayed gross motor development 31 HP:0002194
15 aggressive behavior 31 HP:0000718
16 hyperactivity 31 HP:0000752
17 generalized hypotonia 31 HP:0001290
18 focal-onset seizure 31 HP:0007359
19 generalized-onset seizure 31 HP:0002197
20 poor speech 31 HP:0002465
21 impaired social interactions 31 HP:0000735
22 language impairment 31 HP:0002463
23 progressive language deterioration 31 HP:0007064
24 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
ataxia
absent speech
poor speech
language impairment
more
Neurologic Behavioral Psychiatric Manifestations:
autistic behavior
aggressive behavior
stereotypic behavior
inattention

Head And Neck Head:
large head circumference (in some patients)

Respiratory:
hyperventilation (in some patients)

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
hypotonia

Head And Neck Face:
coarse facial features (in some patients)

Clinical features from OMIM®:

610042 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Pitt-Hopkins-Like Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 AP4E1 CACNA1C CNTN2 CNTNAP2 GRID1 MECP2
2 growth/size/body region MP:0005378 9.85 AP4E1 CACNA1C CNTNAP2 GRID1 MECP2 NLGN1
3 nervous system MP:0003631 9.73 AP4E1 CACNA1C CNTN2 CNTNAP2 GRID1 MECP2
4 respiratory system MP:0005388 9.17 AP4E1 MECP2 NLGN1 NLGN2 NLGN3 NRXN1

Drugs & Therapeutics for Pitt-Hopkins-Like Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies Recruiting NCT02890641

Search NIH Clinical Center for Pitt-Hopkins-Like Syndrome 1

Genetic Tests for Pitt-Hopkins-Like Syndrome 1

Genetic tests related to Pitt-Hopkins-Like Syndrome 1:

# Genetic test Affiliating Genes
1 Pitt-Hopkins-Like Syndrome 1 29 CNTNAP2

Anatomical Context for Pitt-Hopkins-Like Syndrome 1

MalaCards organs/tissues related to Pitt-Hopkins-Like Syndrome 1:

40
Brain

Publications for Pitt-Hopkins-Like Syndrome 1

Articles related to Pitt-Hopkins-Like Syndrome 1:

(show all 15)
# Title Authors PMID Year
1
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. 6 57
27439707 2016
2
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. 57 6
19896112 2009
3
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 6 57
16571880 2006
4
Possible case of Pitt-Hopkins syndrome in sibs. 57 6
11568923 2001
5
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
6
Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment. 6
26843181 2016
7
Epilepsy with auditory features: A heterogeneous clinico-molecular disease. 6
27066544 2015
8
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation. 6
22872700 2012
9
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. 6
22031302 2011
10
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. 6
21827697 2011
11
Gene associated with seizures, autism, and hepatomegaly in an Amish girl. 6
19302947 2009
12
Pitt-Hopkins syndrome in two patients and further definition of the phenotype. 57
16531728 2006
13
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures. 61
33042910 2020
14
Intragenic CNTNAP2 Deletions: A Bridge Too Far? 61
28588433 2017
15
Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders. 61
25852443 2015

Variations for Pitt-Hopkins-Like Syndrome 1

ClinVar genetic disease variations for Pitt-Hopkins-Like Syndrome 1:

6 (show top 50) (show all 706)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNTNAP2 NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs) Deletion Pathogenic 5490 rs730880275 GRCh37: 7:148080973-148080973
GRCh38: 7:148383881-148383881
2 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
3 CNTNAP2 NM_014141.6(CNTNAP2):c.1671-1G>T SNV Pathogenic 5495 rs730880276 GRCh37: 7:147183026-147183026
GRCh38: 7:147485934-147485934
4 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
5 CNTNAP2 NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter) SNV Pathogenic 438342 rs371642222 GRCh37: 7:147914415-147914415
GRCh38: 7:148217323-148217323
6 CNTNAP2 NM_014141.6(CNTNAP2):c.2046C>A (p.Cys682Ter) SNV Pathogenic 438345 rs201076428 GRCh37: 7:147336346-147336346
GRCh38: 7:147639254-147639254
7 CNTNAP2 NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter) SNV Pathogenic 438340 rs149032771 GRCh37: 7:146997364-146997364
GRCh38: 7:147300272-147300272
8 CNTNAP2 and overlap with 1 gene(s) NG_007092.2:g.1180537_1293253del Deletion Pathogenic 438343 GRCh37: 7:146988989-147101705
GRCh38: 7:147291897-147404613
9 overlap with 2 genes NC_000007.13:g.144520633_145949971del Deletion Pathogenic 438341 GRCh37: 7:144520633-145949971
GRCh38:
10 CNTNAP2 NM_014141.6(CNTNAP2):c.2964del (p.Cys989fs) Deletion Pathogenic 438344 rs1554400338 GRCh37: 7:147869523-147869523
GRCh38: 7:148172431-148172431
11 CNTNAP2 NC_000007.14:g.(?_146116001)_(146116993_?)del Deletion Pathogenic 468413 GRCh37: 7:145813093-145814085
GRCh38: 7:146116001-146116993
12 CNTNAP2 NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter) SNV Pathogenic 205244 rs752550849 GRCh37: 7:146997331-146997331
GRCh38: 7:147300239-147300239
13 CNTNAP2 NC_000007.14:g.(?_147043887)_(147044074_?)del Deletion Pathogenic 468414 GRCh37: 7:146740979-146741166
GRCh38: 7:147043887-147044074
14 CNTNAP2 NM_014141.6(CNTNAP2):c.1687_1688TG[1] (p.Cys563_Glu564delinsTer) Microsatellite Pathogenic 468417 rs1554490549 GRCh37: 7:147183043-147183044
GRCh38: 7:147485951-147485952
15 CNTNAP2 NM_014141.6(CNTNAP2):c.3480_3481del (p.Gly1161fs) Deletion Pathogenic 468428 rs771827120 GRCh37: 7:148080745-148080746
GRCh38: 7:148383653-148383654
16 CNTNAP2 NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) Deletion Pathogenic 536312 rs1391540245 GRCh37: 7:147815323-147815323
GRCh38: 7:148118231-148118231
17 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
18 CNTNAP2 NM_014141.6(CNTNAP2):c.97+1G>A SNV Pathogenic 638371 rs972116002 GRCh37: 7:145814066-145814066
GRCh38: 7:146116974-146116974
19 CNTNAP2 NM_014141.6(CNTNAP2):c.636del (p.Ile212fs) Deletion Pathogenic 650946 rs1584848275 GRCh37: 7:146805323-146805323
GRCh38: 7:147108231-147108231
20 CNTNAP2 NC_000007.14:g.(?_147132225)_(147132529_?)del Deletion Pathogenic 648528 GRCh37: 7:146829317-146829621
GRCh38: 7:147132225-147132529
21 CNTNAP2 NC_000007.14:g.(?_147043887)_(147300310_?)del Deletion Pathogenic 832710 GRCh37: 7:146740979-146997402
GRCh38:
22 CNTNAP2 NC_000007.14:g.(?_147300121)_(147395800_?)del Deletion Pathogenic 832857 GRCh37: 7:146997213-147092892
GRCh38:
23 overlap with 4 genes NC_000007.14:g.(?_146116001)_(148847318_?)del Deletion Pathogenic 833114 GRCh37: 7:145813093-148544410
GRCh38:
24 overlap with 4 genes NC_000007.14:g.(?_147395589)_(148847318_?)del Deletion Pathogenic 833138 GRCh37: 7:147092681-148544410
GRCh38:
25 CNTNAP2 NM_014141.6(CNTNAP2):c.2217_2227del (p.Pro739_Lys740insTer) Deletion Pathogenic 802380 rs1585020100 GRCh37: 7:147600775-147600785
GRCh38: 7:147903683-147903693
26 CNTNAP2 NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) SNV Pathogenic 845872 GRCh37: 7:147926752-147926752
GRCh38: 7:148229660-148229660
27 CNTNAP2 NM_014141.6(CNTNAP2):c.3588_3591del (p.Asn1198fs) Deletion Pathogenic 858321 GRCh37: 7:148080851-148080854
GRCh38: 7:148383759-148383762
28 CNTNAP2 NC_000007.14:g.(?_146774251)_(146839924_?)del Deletion Pathogenic 831327 GRCh37: 7:146471343-146537016
GRCh38:
29 CNTNAP2 NM_014141.6(CNTNAP2):c.1399G>T (p.Glu467Ter) SNV Pathogenic 933348 GRCh37: 7:146997283-146997283
GRCh38: 7:147300191-147300191
30 CNTNAP2 NM_014141.6(CNTNAP2):c.481dup (p.Ile161fs) Duplication Pathogenic 947629 GRCh37: 7:146741076-146741077
GRCh38: 7:147043984-147043985
31 CNTNAP2 GRCh37/hg19 7q35(chr7:146997280-146997587) copy number loss Pathogenic 915982 GRCh37: 7:146997280-146997587
GRCh38:
32 CNTNAP2 NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter) SNV Pathogenic 95560 rs398124268 GRCh37: 7:147600711-147600711
GRCh38: 7:147903619-147903619
33 CNTNAP2 NM_014141.6(CNTNAP2):c.1488C>A (p.Tyr496Ter) SNV Pathogenic 1033663 GRCh37: 7:146997372-146997372
GRCh38: 7:147300280-147300280
34 CNTNAP2 NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs) Deletion Likely pathogenic 930571 GRCh37: 7:146997245-146997246
GRCh38: 7:147300153-147300154
35 CNTNAP2 NC_000007.14:g.(?_147977842)_(147978009_?)dup Duplication Likely pathogenic 832667 GRCh37: 7:147674934-147675101
GRCh38:
36 CNTNAP2 NM_014141.6(CNTNAP2):c.3922_3970dup (p.Glu1324delinsGlyArgArgHisHisGluGlnArgProGlnLeuHisArgAspHisTer) Duplication Likely pathogenic 451490 rs757043221 GRCh37: 7:148112632-148112633
GRCh38: 7:148415540-148415541
37 CNTNAP2 NM_014141.6(CNTNAP2):c.1785C>G (p.Tyr595Ter) SNV Likely pathogenic 804408 rs781574808 GRCh37: 7:147259237-147259237
GRCh38: 7:147562145-147562145
38 CNTNAP2 NM_014141.6(CNTNAP2):c.498G>A (p.Trp166Ter) SNV Likely pathogenic 974852 GRCh37: 7:146741094-146741094
GRCh38: 7:147044002-147044002
39 CNTNAP2 NM_014141.6(CNTNAP2):c.5_8dup (p.Ala4fs) Duplication Likely pathogenic 974853 GRCh37: 7:145813970-145813971
GRCh38: 7:146116878-146116879
40 CNTNAP2 NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) SNV Conflicting interpretations of pathogenicity 136829 rs117876038 GRCh37: 7:148080865-148080865
GRCh38: 7:148383773-148383773
41 CNTNAP2 NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) SNV Conflicting interpretations of pathogenicity 205271 rs758630057 GRCh37: 7:147844679-147844679
GRCh38: 7:148147587-148147587
42 CNTNAP2 NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) SNV Conflicting interpretations of pathogenicity 166910 rs56356283 GRCh37: 7:146829564-146829564
GRCh38: 7:147132472-147132472
43 CNTNAP2 NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) SNV Conflicting interpretations of pathogenicity 136834 rs143856702 GRCh37: 7:148112639-148112639
GRCh38: 7:148415547-148415547
44 CNTNAP2 NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) SNV Conflicting interpretations of pathogenicity 5493 rs121908445 GRCh37: 7:147844634-147844634
GRCh38: 7:148147542-148147542
45 CNTNAP2 NM_014141.6(CNTNAP2):c.939+8T>A SNV Conflicting interpretations of pathogenicity 128809 rs199994339 GRCh37: 7:146818263-146818263
GRCh38: 7:147121171-147121171
46 CNTNAP2 NM_014141.6(CNTNAP2):c.1898-9T>C SNV Conflicting interpretations of pathogenicity 205217 rs372830287 GRCh37: 7:147336189-147336189
GRCh38: 7:147639097-147639097
47 CNTNAP2 NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=) SNV Conflicting interpretations of pathogenicity 210741 rs778124698 GRCh37: 7:147675038-147675038
GRCh38: 7:147977946-147977946
48 CNTNAP2 NM_014141.6(CNTNAP2):c.3968A>C (p.Asp1323Ala) SNV Conflicting interpretations of pathogenicity 205294 rs142434274 GRCh37: 7:148112680-148112680
GRCh38: 7:148415588-148415588
49 CNTNAP2 NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=) SNV Conflicting interpretations of pathogenicity 359179 rs776956365 GRCh37: 7:146805333-146805333
GRCh38: 7:147108241-147108241
50 CNTNAP2 NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) SNV Conflicting interpretations of pathogenicity 128805 rs141078449 GRCh37: 7:148080787-148080787
GRCh38: 7:148383695-148383695

Expression for Pitt-Hopkins-Like Syndrome 1

Search GEO for disease gene expression data for Pitt-Hopkins-Like Syndrome 1.

Pathways for Pitt-Hopkins-Like Syndrome 1

GO Terms for Pitt-Hopkins-Like Syndrome 1

Cellular components related to Pitt-Hopkins-Like Syndrome 1 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.35 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
2 integral component of membrane GO:0016021 10.27 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
3 plasma membrane GO:0005886 10.25 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
4 integral component of plasma membrane GO:0005887 10.04 NRXN3 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
5 cell junction GO:0030054 9.97 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1 GRID1
6 cell surface GO:0009986 9.95 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1 CNTNAP2
7 dendrite GO:0030425 9.86 NLGN4X NLGN1 CNTNAP2 CACNA1C
8 postsynaptic membrane GO:0045211 9.78 NLGN4X NLGN2 GRID1 CACNA1C
9 postsynapse GO:0098794 9.7 NLGN3 NLGN1 MECP2
10 integral component of postsynaptic membrane GO:0099055 9.63 NLGN3 NLGN2 NLGN1
11 presynapse GO:0098793 9.63 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN1
12 excitatory synapse GO:0060076 9.61 NLGN4X NLGN3 NLGN1
13 integral component of postsynaptic specialization membrane GO:0099060 9.54 NLGN2 NLGN1
14 juxtaparanode region of axon GO:0044224 9.51 CNTNAP2 CNTN2
15 asymmetric, glutamatergic, excitatory synapse GO:0098985 9.5 NLGN4X NLGN3 NLGN1
16 symmetric, GABA-ergic, inhibitory synapse GO:0098983 9.43 NLGN4X NLGN3 NLGN2
17 synapse GO:0045202 9.32 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
18 spanning component of membrane GO:0089717 9.26 NLGN4X NLGN3 NLGN2 NLGN1

Biological processes related to Pitt-Hopkins-Like Syndrome 1 according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.13 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
2 chemical synaptic transmission GO:0007268 10.04 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
3 neuron projection development GO:0031175 9.99 NRXN1 NLGN1 MECP2 CNTNAP2 CNTN2
4 modulation of chemical synaptic transmission GO:0050804 9.93 NLGN4X NLGN3 NLGN2 NLGN1 GRID1
5 synapse organization GO:0050808 9.91 NLGN4X NLGN3 NLGN2 NLGN1
6 synapse assembly GO:0007416 9.91 NRXN2 NRXN1 NLGN3 NLGN2 NLGN1 MECP2
7 positive regulation of synapse assembly GO:0051965 9.9 NRXN1 NLGN3 NLGN2 NLGN1
8 synaptic vesicle endocytosis GO:0048488 9.88 NLGN4X NLGN3 NLGN2 NLGN1
9 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.87 NRXN1 NLGN3 NLGN2 NLGN1
10 learning GO:0007612 9.87 NRXN3 NRXN1 NLGN4X NLGN3 MECP2 CNTNAP2
11 positive regulation of excitatory postsynaptic potential GO:2000463 9.85 NRXN1 NLGN3 NLGN2 NLGN1
12 adult behavior GO:0030534 9.85 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 CNTNAP2
13 presynapse assembly GO:0099054 9.83 NLGN4X NLGN3 NLGN2 NLGN1
14 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.81 NLGN3 NLGN2 NLGN1 MECP2
15 presynaptic membrane assembly GO:0097105 9.8 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
16 regulation of AMPA receptor activity GO:2000311 9.79 NRXN1 NLGN2 NLGN1
17 protein localization to synapse GO:0035418 9.79 NRXN1 NLGN2 NLGN1
18 postsynaptic density protein 95 clustering GO:0097119 9.76 NRXN2 NRXN1 NLGN2 NLGN1
19 vocal learning GO:0042297 9.75 NRXN2 NRXN1 CNTNAP2
20 gephyrin clustering involved in postsynaptic density assembly GO:0097116 9.73 NRXN2 NRXN1 NLGN2
21 vocalization behavior GO:0071625 9.73 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 CNTNAP2
22 regulation of NMDA receptor activity GO:2000310 9.68 NRXN1 NLGN1
23 histone methylation GO:0016571 9.68 PRDM13 MECP2
24 receptor localization to synapse GO:0097120 9.67 NRXN1 NLGN1
25 positive regulation of synaptic transmission, GABAergic GO:0032230 9.67 NLGN2 NLGN1
26 synaptic vesicle clustering GO:0097091 9.67 NRXN1 NLGN1
27 neuronal signal transduction GO:0023041 9.66 NRXN1 NLGN1
28 positive regulation of protein localization to synapse GO:1902474 9.66 NLGN2 NLGN1
29 NMDA glutamate receptor clustering GO:0097114 9.65 NRXN1 NLGN1
30 protein localization to juxtaparanode region of axon GO:0071205 9.65 CNTNAP2 CNTN2
31 positive regulation of synaptic vesicle clustering GO:2000809 9.65 NLGN2 NLGN1
32 postsynaptic specialization assembly GO:0098698 9.64 NLGN2 NLGN1
33 neuroligin clustering involved in postsynaptic membrane assembly GO:0097118 9.64 NRXN2 NRXN1
34 terminal button organization GO:0072553 9.63 NLGN2 NLGN1
35 clustering of voltage-gated potassium channels GO:0045163 9.63 CNTNAP2 CNTN2
36 postsynaptic membrane assembly GO:0097104 9.63 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
37 positive regulation of presynaptic active zone assembly GO:1905520 9.62 NRXN1 NLGN1
38 neuron cell-cell adhesion GO:0007158 9.5 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
39 social behavior GO:0035176 9.23 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 MECP2

Molecular functions related to Pitt-Hopkins-Like Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 scaffold protein binding GO:0097110 9.5 NLGN4X NLGN3 NLGN1
2 signaling receptor activity GO:0038023 9.5 NRXN3 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
3 neurexin family protein binding GO:0042043 9.46 NLGN4X NLGN3 NLGN2 NLGN1
4 neuroligin family protein binding GO:0097109 9.43 NRXN3 NRXN2 NRXN1
5 calcium channel regulator activity GO:0005246 9.37 NRXN2 NRXN1
6 cell adhesion molecule binding GO:0050839 9.17 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2

Sources for Pitt-Hopkins-Like Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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