PTHSL1
MCID: PTT029
MIFTS: 54

Pitt-Hopkins-Like Syndrome 1 (PTHSL1)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Pitt-Hopkins-Like Syndrome 1

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

Name: Pitt-Hopkins-Like Syndrome 1 57 73 71
Cortical Dysplasia-Focal Epilepsy Syndrome 57 11 58 73 28 12 5 14 71
Cdfes 57 11 58 73
Cdfe Syndrome 57 11 58
Pthsl1 57 11 73
Pitt-Hopkins Like Syndrome 1 57 38
Cntnap2-Related Developmental and Epileptic Encephalopathy 58
Pitt-Hopkins-Like Syndrome-1 11
Cntnap2-Related Dee 58
Mesh; D006985 73
Mesh; D008607 73

Characteristics:


Inheritance:

Pitt-Hopkins-Like Syndrome 1: Autosomal recessive 57
Cntnap2-Related Developmental and Epileptic Encephalopathy: Autosomal recessive 58

Age Of Onset:

Cntnap2-Related Developmental and Epileptic Encephalopathy: Infancy 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable phenotype
onset of seizures in infancy or early childhood


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Pitt-Hopkins-Like Syndrome 1

OMIM®: 57 Pitt-Hopkins-like syndrome-1 (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 24-Oct-2022)

MalaCards based summary: Pitt-Hopkins-Like Syndrome 1, also known as cortical dysplasia-focal epilepsy syndrome, is related to pitt-hopkins syndrome and pitt-hopkins-like syndrome 2. 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 Neuroscience. Affiliated tissues include brain, eye and skin, and related phenotypes are abnormality of neuronal migration and abnormal neuron morphology

UniProtKB/Swiss-Prot 73 Pitt-hopkins-like syndrome 1: A syndrome characterized by severe intellectual disability 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.

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 intellectual disability develop.

Orphanet: 58 A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.

Disease Ontology: 11 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.

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 top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 pitt-hopkins syndrome 31.9 NRXN2 NRXN1 MECP2 CNTNAP2 CDKL5
2 pitt-hopkins-like syndrome 2 31.8 NRXN3 NRXN2 NRXN1 NLGN4X CNTNAP2
3 pitt-hopkins-like syndrome 30.8 NRXN1 CNTNAP2
4 focal epilepsy 30.4 MECP2 CNTNAP2 CDKL5
5 autism spectrum disorder 28.9 TSC2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
6 valproate embryopathy 10.2 NLGN3 MECP2
7 syndromic x-linked intellectual disability najm type 10.2 NRXN2 NRXN1
8 apnea, obstructive sleep 10.2
9 strabismus 10.2
10 sleep apnea 10.2
11 hypotonia 10.2
12 hereditary spastic paraplegia 51 10.2 RIPPLY1 CNTNAP2
13 chronic tic disorder 10.2 NRXN1 NLGN4X CNTNAP2
14 gait apraxia 10.2 MECP2 CDKL5
15 motor stereotypies 10.2 MECP2 CDKL5
16 nescav syndrome 10.1 MECP2 CDKL5
17 potocki-lupski syndrome 10.1 NRXN1 NLGN3 MECP2
18 alcohol-related neurodevelopmental disorder 10.1 MECP2 CDKL5
19 christianson syndrome 10.1 MECP2 CDKL5
20 mowat-wilson syndrome 10.1 NRXN1 MECP2 CDKL5
21 developmental and epileptic encephalopathy 2 10.1 MECP2 CDKL5
22 meier-gorlin syndrome 2 10.0 FMR1 CNTNAP2
23 developmental and epileptic encephalopathy 87 10.0 TSC2 CDKL5
24 epilepsy, idiopathic generalized 9 10.0 FMR1 CNTNAP2
25 developmental and epileptic encephalopathy 14 10.0 MECP2 CDKL5
26 epilepsy with generalized tonic-clonic seizures 10.0 EFHC1 CDKL5
27 early infantile epileptic encephalopathy 10.0 NRXN1 MECP2 CNTNAP2 CDKL5
28 chromosomal deletion syndrome 9.9 NRXN1 MECP2 FMR1
29 chromosomal disease 9.9 NRXN1 MECP2 FMR1
30 lennox-gastaut syndrome 9.9 TSC2 MECP2 CDKL5
31 epilepsy, idiopathic generalized 9.9 NRXN1 EFHC1 CDKL5
32 asperger syndrome 9.9 NLGN4X NLGN3 NLGN1 MECP2
33 early myoclonic encephalopathy 9.9 MECP2 EFHC1 CDKL5
34 speech and communication disorders 9.9 MECP2 FMR1 CNTNAP2
35 syndromic x-linked intellectual disability 9.9 MECP2 FMR1 CDKL5
36 benign neonatal seizures 9.9 EFHC1 CDKL5
37 stereotypic movement disorder 9.9 NRXN1 NLGN4X NLGN3 MECP2 CDKL5
38 velocardiofacial syndrome 9.8 NRXN1 MECP2 FMR1 CNTNAP2
39 chromosome 22q11.2 deletion syndrome, distal 9.8 NRXN1 NLGN4X MECP2 FMR1
40 disease of mental health 9.8 NRXN1 MECP2 FMR1
41 photosensitive epilepsy 9.8 EFHC1 CDKL5
42 tic disorder 9.8 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 CNTNAP2
43 non-syndromic x-linked intellectual disability 9.8 NLGN4X MECP2 FMR1
44 gene duplication disease 9.8 NLGN3 MECP2 FMR1 CDKL5
45 specific language impairment 9.8 NRXN1 NLGN4X NLGN3 FMR1 CNTNAP2
46 williams-beuren syndrome 9.7 NRXN1 MECP2 FMR1 CDKL5
47 atypical autism 9.7 NRXN1 NLGN4X NLGN3 MECP2 FMR1
48 learning disability 9.7 NRXN1 NLGN4X MECP2 FMR1 CNTNAP2
49 sturge-weber syndrome 9.7 TSC2 CDKL5
50 syndromic intellectual disability 9.6 NRXN2 NRXN1 MECP2 FMR1 CDKL5

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:

58 30 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of neuronal migration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002269
2 abnormal neuron morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012757
3 delayed ability to walk 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031936
4 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
5 intellectual disability, severe 58 30 Frequent (33%) Frequent (79-30%)
HP:0010864
6 poor speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0002465
7 eeg with generalized slow activity 58 30 Frequent (33%) Frequent (79-30%)
HP:0010845
8 progressive language deterioration 58 30 Frequent (33%) Frequent (79-30%)
HP:0007064
9 eeg with generalized polyspikes 58 30 Frequent (33%) Frequent (79-30%)
HP:0012001
10 bilateral tonic-clonic seizure with focal onset 30 Frequent (33%) HP:0007334
11 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
12 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
13 precocious puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000826
14 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002240
15 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
16 absent speech 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001344
17 autism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000717
18 obesity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001513
19 downslanted palpebral fissures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000494
20 areflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001284
21 intellectual disability, moderate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002342
22 pes cavus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001761
23 hyporeflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001265
24 cerebral palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100021
25 poor eye contact 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000817
26 feeding difficulties 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011968
27 abnormal temper tantrums 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025160
28 aggressive behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000718
29 hyperactivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000752
30 cerebellar vermis atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006855
31 low frustration tolerance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000744
32 lower limb spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002061
33 self-mutilation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000742
34 periventricular leukomalacia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006970
35 preaxial polydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100258
36 eeg with focal spikes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011193
37 stereotypical hand wringing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012171
38 receptive language delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010863
39 intermittent hyperventilation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004879
40 skin-picking 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012166
41 hypotonia 30 Occasional (7.5%) HP:0001252
42 macrocephaly 30 Very rare (1%) HP:0000256
43 coarse facial features 30 Very rare (1%) HP:0000280
44 hyperventilation 30 Very rare (1%) HP:0002883
45 focal cortical dysplasia 30 Very rare (1%) HP:0032046
46 focal-onset seizure 58 30 Very frequent (99-80%)
HP:0007359
47 intellectual disability 30 HP:0001249
48 seizures 58 Very frequent (99-80%)
49 spasticity 30 HP:0001257
50 eeg abnormality 30 HP:0002353

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 CDKL5 CNTN2 CNTNAP2 EFHC1 FMR1 MECP2
2 behavior/neurological MP:0005386 9.77 CDKL5 CNTN2 CNTNAP2 EFHC1 FMR1 MECP2
3 respiratory system MP:0005388 9.17 MECP2 NLGN1 NLGN2 NLGN3 NRXN1 NRXN2

Drugs & Therapeutics for Pitt-Hopkins-Like Syndrome 1

Search Clinical Trials, 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 Cortical Dysplasia-Focal Epilepsy Syndrome 28 CNTNAP2

Anatomical Context for Pitt-Hopkins-Like Syndrome 1

Organs/tissues related to Pitt-Hopkins-Like Syndrome 1:

MalaCards : Brain, Eye, Skin, Cortex

Publications for Pitt-Hopkins-Like Syndrome 1

Articles related to Pitt-Hopkins-Like Syndrome 1:

(show all 23)
# 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. 62 57 5
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 5
19896112 2009
3
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 57 5
16571880 2006
4
Possible case of Pitt-Hopkins syndrome in sibs. 57 5
11568923 2001
5
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 5
32576985 2020
6
Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment. 5
26843181 2016
7
Epilepsy with auditory features: A heterogeneous clinico-molecular disease. 5
27066544 2015
8
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
9
Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. 5
25045150 2014
10
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation. 5
22872700 2012
11
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. 5
22031302 2011
12
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. 5
21827697 2011
13
Gene associated with seizures, autism, and hepatomegaly in an Amish girl. 5
19302947 2009
14
Pitt-Hopkins syndrome in two patients and further definition of the phenotype. 57
16531728 2006
15
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
16
Somatosensory cortex hyperconnectivity and impaired whisker-dependent responses in Cntnap2-/- mice. 62
35483565 2022
17
Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings. 62
34778490 2021
18
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures. 62
33042910 2020
19
Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders. 62
30586385 2018
20
Intragenic CNTNAP2 Deletions: A Bridge Too Far? 62
28588433 2017
21
Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders. 62
25852443 2015
22
Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism. 62
25609168 2015
23
Improving the efficiency and effectiveness of performing the diabetic foot exam. 62
21346134 2011

Variations for Pitt-Hopkins-Like Syndrome 1

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

5 (show top 50) (show all 1097)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNTNAP2 NM_014141.6(CNTNAP2):c.1671-1G>T SNV Pathogenic
5495 rs730880276 GRCh37: 7:147183026-147183026
GRCh38: 7:147485934-147485934
2 CNTNAP2 NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter) SNV Pathogenic
438342 rs371642222 GRCh37: 7:147914415-147914415
GRCh38: 7:148217323-148217323
3 CNTNAP2 NM_014141.6(CNTNAP2):c.2046C>A (p.Cys682Ter) SNV Pathogenic
Uncertain Significance
438345 rs201076428 GRCh37: 7:147336346-147336346
GRCh38: 7:147639254-147639254
4 CNTNAP2 NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter) SNV Pathogenic
Uncertain Significance
438340 rs149032771 GRCh37: 7:146997364-146997364
GRCh38: 7:147300272-147300272
5 CNTNAP2 and overlap with 1 gene(s) NG_007092.2:g.1180537_1293253del DEL Pathogenic
438343 GRCh37: 7:146988989-147101705
GRCh38: 7:147291897-147404613
6 overlap with 2 genes NC_000007.13:g.144520633_145949971del DEL Pathogenic
438341 GRCh37: 7:144520633-145949971
GRCh38:
7 CNTNAP2 NM_014141.6(CNTNAP2):c.2964del (p.Cys989fs) DEL Pathogenic
438344 rs1554400338 GRCh37: 7:147869523-147869523
GRCh38: 7:148172431-148172431
8 CNTNAP2 NC_000007.14:g.(?_146116001)_(146116993_?)del DEL Pathogenic
468413 GRCh37: 7:145813093-145814085
GRCh38: 7:146116001-146116993
9 CNTNAP2 NC_000007.14:g.(?_147043887)_(147044074_?)del DEL Pathogenic
468414 GRCh37: 7:146740979-146741166
GRCh38: 7:147043887-147044074
10 CNTNAP2 and overlap with 1 gene(s) NC_000007.14:g.(?_147300141)_(147395780_?)del DEL Pathogenic
583989 GRCh37: 7:146997233-147092872
GRCh38: 7:147300141-147395780
11 CNTNAP2 NM_014141.6(CNTNAP2):c.2217_2227del (p.Pro739_Lys740insTer) DEL Pathogenic
802380 rs1585020100 GRCh37: 7:147600775-147600785
GRCh38: 7:147903683-147903693
12 overlap with 4 genes NC_000007.14:g.(?_146116001)_(148847318_?)del DEL Pathogenic
833114 GRCh37: 7:145813093-148544410
GRCh38:
13 CNTNAP2 NC_000007.14:g.(?_146774251)_(146839924_?)del DEL Pathogenic
831327 GRCh37: 7:146471343-146537016
GRCh38:
14 CNTNAP2 GRCh37/hg19 7q35(chr7:146997280-146997587) CN LOSS Pathogenic
915982 GRCh37: 7:146997280-146997587
GRCh38:
15 CNTNAP2 NC_000007.13:g.(?_146740989)_(146741156_?)del DEL Pathogenic
1075739 GRCh37: 7:146740989-146741156
GRCh38:
16 CNTNAP2 NC_000007.13:g.(?_146471353)_(146537006_?)del DEL Pathogenic
1075740 GRCh37: 7:146471353-146537006
GRCh38:
17 CNTNAP2 NM_014141.6(CNTNAP2):c.2884G>T (p.Gly962Ter) SNV Pathogenic
1322100 GRCh37: 7:147869444-147869444
GRCh38: 7:148172352-148172352
18 CNTNAP2 NM_014141.6(CNTNAP2):c.2151C>A (p.Tyr717Ter) SNV Pathogenic
1164026 GRCh37: 7:147600709-147600709
GRCh38: 7:147903617-147903617
19 CNTNAP2 NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter) SNV Pathogenic
1163876 GRCh37: 7:147926773-147926773
GRCh38: 7:148229681-148229681
20 CNTNAP2 NM_014141.6(CNTNAP2):c.2396del (p.Asn799fs) DEL Pathogenic
1359063 GRCh37: 7:147815221-147815221
GRCh38: 7:148118129-148118129
21 CNTNAP2 NM_014141.6(CNTNAP2):c.682G>T (p.Gly228Ter) SNV Pathogenic
1370808 GRCh37: 7:146805370-146805370
GRCh38: 7:147108278-147108278
22 CNTNAP2 NM_014141.6(CNTNAP2):c.401G>A (p.Trp134Ter) SNV Pathogenic
1371355 GRCh37: 7:146536995-146536995
GRCh38: 7:146839903-146839903
23 CNTNAP2 NM_014141.6(CNTNAP2):c.2011C>T (p.Gln671Ter) SNV Pathogenic
1398096 GRCh37: 7:147336311-147336311
GRCh38: 7:147639219-147639219
24 CNTNAP2 NM_014141.6(CNTNAP2):c.1843dup (p.Asp615fs) DUP Pathogenic
1427707 GRCh37: 7:147259294-147259295
GRCh38: 7:147562202-147562203
25 CNTNAP2 NC_000007.13:g.(?_145813969)_(145814085_?)del DEL Pathogenic
1456383 GRCh37: 7:145813969-145814085
GRCh38:
26 CNTNAP2 NM_014141.6(CNTNAP2):c.655del (p.Ser219fs) DEL Pathogenic
1442081 GRCh37: 7:146805343-146805343
GRCh38: 7:147108251-147108251
27 CNTNAP2 NM_014141.6(CNTNAP2):c.782_783insGA (p.His262fs) INSERT Pathogenic
1457131 GRCh37: 7:146818098-146818099
GRCh38: 7:147121006-147121007
28 CNTNAP2 NM_014141.6(CNTNAP2):c.2910T>A (p.Tyr970Ter) SNV Pathogenic
1455600 GRCh37: 7:147869470-147869470
GRCh38: 7:148172378-148172378
29 CNTNAP2 NC_000007.13:g.(?_145813969)_(148112708_?)del DEL Pathogenic
1456382 GRCh37: 7:145813969-148112708
GRCh38:
30 CNTNAP2 NC_000007.13:g.(?_145813969)_(146537016_?)del DEL Pathogenic
1456387 GRCh37: 7:145813969-146537016
GRCh38:
31 CNTNAP2 NM_014141.6(CNTNAP2):c.1295del (p.Gly432fs) DEL Pathogenic
1453578 GRCh37: 7:146829546-146829546
GRCh38: 7:147132454-147132454
32 CNTNAP2 NM_014141.6(CNTNAP2):c.2117G>A (p.Trp706Ter) SNV Pathogenic
1385730 GRCh37: 7:147600675-147600675
GRCh38: 7:147903583-147903583
33 CNTNAP2 NM_014141.6(CNTNAP2):c.551G>A (p.Trp184Ter) SNV Pathogenic
1526249 GRCh37: 7:146805239-146805239
GRCh38: 7:147108147-147108147
34 CNTNAP2 NM_014141.6(CNTNAP2):c.1689_1690del (p.Cys563_Glu564delinsTer) MICROSAT Pathogenic
468417 rs1554490549 GRCh37: 7:147183043-147183044
GRCh38: 7:147485951-147485952
35 CNTNAP2 NM_014141.6(CNTNAP2):c.3588_3591del (p.Asn1198fs) DEL Pathogenic
858321 rs746615217 GRCh37: 7:148080851-148080854
GRCh38: 7:148383759-148383762
36 CNTNAP2 NM_014141.6(CNTNAP2):c.1399G>T (p.Glu467Ter) SNV Pathogenic
933348 rs986848347 GRCh37: 7:146997283-146997283
GRCh38: 7:147300191-147300191
37 CNTNAP2 NM_014141.6(CNTNAP2):c.481dup (p.Ile161fs) DUP Pathogenic
947629 rs1799307071 GRCh37: 7:146741076-146741077
GRCh38: 7:147043984-147043985
38 CNTNAP2 NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) SNV Pathogenic
845872 rs766777011 GRCh37: 7:147926752-147926752
GRCh38: 7:148229660-148229660
39 CNTNAP2 NM_014141.6(CNTNAP2):c.2922_2923del (p.Cys974_Glu975delinsTer) MICROSAT Pathogenic
1073332 GRCh37: 7:147869480-147869481
GRCh38: 7:148172388-148172389
40 CNTNAP2 NM_014141.6(CNTNAP2):c.2646G>A (p.Trp882Ter) SNV Pathogenic
1075757 GRCh37: 7:147844674-147844674
GRCh38: 7:148147582-148147582
41 CNTNAP2 NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter) SNV Pathogenic
205244 rs752550849 GRCh37: 7:146997331-146997331
GRCh38: 7:147300239-147300239
42 CNTNAP2 NM_014141.6(CNTNAP2):c.97+1G>A SNV Pathogenic
638371 rs972116002 GRCh37: 7:145814066-145814066
GRCh38: 7:146116974-146116974
43 CNTNAP2 NC_000007.14:g.(?_147132225)_(147132529_?)del DEL Pathogenic
648528 GRCh37: 7:146829317-146829621
GRCh38: 7:147132225-147132529
44 CNTNAP2 NC_000007.14:g.(?_147043887)_(147300310_?)del DEL Pathogenic
832710 GRCh37: 7:146740979-146997402
GRCh38:
45 CNTNAP2 NM_014141.6(CNTNAP2):c.648dup (p.Lys217Ter) DUP Pathogenic
1699310 GRCh37: 7:146805333-146805334
GRCh38: 7:147108241-147108242
46 CNTNAP2 NM_014141.6(CNTNAP2):c.3480_3481del (p.Gly1161fs) DEL Pathogenic
468428 rs771827120 GRCh37: 7:148080745-148080746
GRCh38: 7:148383653-148383654
47 CNTNAP2 NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter) SNV Pathogenic
95560 rs398124268 GRCh37: 7:147600711-147600711
GRCh38: 7:147903619-147903619
48 CNTNAP2 NM_014141.6(CNTNAP2):c.636del (p.Ile212fs) DEL Pathogenic
650946 rs1584848275 GRCh37: 7:146805323-146805323
GRCh38: 7:147108231-147108231
49 CNTNAP2 NC_000007.14:g.(?_147300121)_(147395800_?)del DEL Pathogenic
832857 GRCh37: 7:146997213-147092892
GRCh38:
50 overlap with 4 genes NC_000007.14:g.(?_147395589)_(148847318_?)del DEL Pathogenic
833138 GRCh37: 7:147092681-148544410
GRCh38:

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 20)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005887 10.54 NRXN3 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
2 plasma membrane GO:0005886 10.54 NRXN3 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
3 cell surface GO:0009986 10.37 CNTN2 CNTNAP2 NLGN1 NLGN2 NLGN3 NLGN4X
4 synapse GO:0045202 10.33 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
5 neuronal cell body GO:0043025 10.26 CNTN2 CNTNAP2 EFHC1 FMR1 NRXN1
6 cell projection GO:0042995 10.18 NRXN1 NLGN2 FMR1 EFHC1 CNTNAP2 CDKL5
7 postsynaptic membrane GO:0045211 10.11 NLGN4X NLGN3 NLGN2 NLGN1 FMR1 CNTN2
8 presynapse GO:0098793 10.1 FMR1 NLGN1 NLGN3 NLGN4X NRXN1 NRXN2
9 excitatory synapse GO:0060076 10.02 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
10 asymmetric, glutamatergic, excitatory synapse GO:0098985 9.97 NLGN4X NLGN3 NLGN1
11 symmetric, GABA-ergic, inhibitory synapse GO:0098983 9.95 NLGN2 NLGN3 NLGN4X
12 juxtaparanode region of axon GO:0044224 9.87 CNTNAP2 CNTN2
13 GABA-ergic synapse GO:0098982 9.8 NRXN3 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
14 postsynaptic specialization membrane GO:0099634 9.73 NLGN1 NLGN2 NLGN3 NLGN4X
15 obsolete integral component of postsynaptic membrane GO:0099055 9.72 NLGN3 NLGN2 NLGN1
16 protein complex involved in cell-cell adhesion GO:0098635 9.71 NRXN1 NLGN1
17 obsolete integral component of postsynaptic specialization membrane GO:0099060 9.71 NLGN4X NLGN3 NLGN2 NLGN1
18 inhibitory synapse GO:0060077 9.7 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
19 obsolete spanning component of membrane GO:0089717 9.26 NLGN4X NLGN3 NLGN2 NLGN1
20 neuron to neuron synapse GO:0098984 9.1 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 10.32 MECP2 NLGN1 NLGN2 NLGN3 NLGN4X NRXN1
2 cell adhesion GO:0007155 10.26 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
3 synapse assembly GO:0007416 10.22 MECP2 NLGN1 NLGN2 NLGN3 NRXN1 NRXN2
4 positive regulation of synapse assembly GO:0051965 10.21 NRXN1 NLGN3 NLGN2 NLGN1
5 adult behavior GO:0030534 10.21 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 CNTNAP2
6 synaptic vesicle endocytosis GO:0048488 10.19 NLGN1 NLGN2 NLGN3 NLGN4X
7 modulation of chemical synaptic transmission GO:0050804 10.19 CDKL5 NLGN1 NLGN2 NLGN3 NLGN4X
8 positive regulation of synaptic transmission, glutamatergic GO:0051968 10.18 NRXN1 NLGN3 NLGN2 NLGN1
9 positive regulation of excitatory postsynaptic potential GO:2000463 10.16 NRXN1 NLGN3 NLGN2 NLGN1
10 synapse organization GO:0050808 10.14 NLGN4X NLGN3 NLGN2 NLGN1
11 neuron projection development GO:0031175 10.14 NRXN1 NLGN1 MECP2 CNTNAP2 CNTN2
12 learning GO:0007612 10.13 CNTN2 CNTNAP2 MECP2 NLGN3 NLGN4X NRXN1
13 presynapse assembly GO:0099054 10.11 NLGN4X NLGN3 NLGN2 NLGN1
14 positive regulation of dendritic spine development GO:0060999 10.1 FMR1 NLGN1 NLGN2
15 cell-cell adhesion GO:0098609 10.08 NRXN3 NRXN2 NRXN1 NLGN2
16 neuron projection morphogenesis GO:0048812 10.07 NRXN1 NLGN1 CNTNAP2
17 postsynaptic density protein 95 clustering GO:0097119 10.06 NRXN2 NRXN1 NLGN2 NLGN1
18 social behavior GO:0035176 10.06 CNTNAP2 MECP2 NLGN2 NLGN3 NLGN4X NRXN1
19 neurotransmitter secretion GO:0007269 10.05 NRXN3 NRXN2 NRXN1
20 vocal learning GO:0042297 10.04 NRXN2 NRXN1 CNTNAP2
21 regulation of respiratory gaseous exchange by nervous system process GO:0002087 10.04 NLGN3 NLGN2 NLGN1 MECP2
22 regulation of AMPA receptor activity GO:2000311 10.03 NRXN1 NLGN2 NLGN1
23 vocalization behavior GO:0071625 10.03 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 CNTNAP2
24 protein localization to synapse GO:0035418 10.02 NRXN1 NLGN2 NLGN1
25 gephyrin clustering involved in postsynaptic density assembly GO:0097116 10.02 NRXN2 NRXN1 NLGN2
26 presynaptic membrane assembly GO:0097105 10.02 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
27 positive regulation of synaptic transmission, GABAergic GO:0032230 10.01 NRXN1 NLGN2 NLGN1
28 terminal button organization GO:0072553 9.97 NLGN2 NLGN1
29 clustering of voltage-gated potassium channels GO:0045163 9.96 CNTN2 CNTNAP2
30 protein localization to juxtaparanode region of axon GO:0071205 9.96 CNTN2 CNTNAP2
31 neuroligin clustering involved in postsynaptic membrane assembly GO:0097118 9.95 NRXN2 NRXN1
32 synapse maturation GO:0060074 9.87 NRXN1 NLGN1
33 regulation of NMDA receptor activity GO:2000310 9.87 NRXN1 NLGN1
34 maintenance of synapse structure GO:0099558 9.86 NRXN1 NLGN1
35 receptor localization to synapse GO:0097120 9.86 NRXN1 NLGN1
36 synaptic vesicle clustering GO:0097091 9.85 NRXN1 NLGN1
37 neuronal signal transduction GO:0023041 9.85 NRXN1 NLGN1
38 NMDA glutamate receptor clustering GO:0097114 9.84 NRXN1 NLGN1
39 positive regulation of synaptic vesicle clustering GO:2000809 9.82 NLGN2 NLGN1
40 positive regulation of neuromuscular synaptic transmission GO:1900075 9.81 NRXN1 NLGN1
41 cell-cell adhesion involved in synapse maturation GO:0090125 9.8 NRXN1 NLGN1
42 postsynaptic membrane assembly GO:0097104 9.73 NLGN1 NLGN2 NLGN3 NLGN4X NRXN1 NRXN2
43 postsynaptic specialization assembly GO:0098698 9.65 NLGN2 NLGN1
44 neuron cell-cell adhesion GO:0007158 9.47 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 10.03 NRXN3 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
2 scaffold protein binding GO:0097110 9.85 NLGN4X NLGN3 NLGN1
3 calcium channel regulator activity GO:0005246 9.72 NRXN3 NRXN2 NRXN1
4 siRNA binding GO:0035197 9.71 MECP2 FMR1
5 neuroligin family protein binding GO:0097109 9.63 NRXN1 NRXN2 NRXN3
6 neurexin family protein binding GO:0042043 9.56 NLGN4X NLGN3 NLGN2 NLGN1
7 cell adhesion molecule binding GO:0050839 9.47 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2

Sources for Pitt-Hopkins-Like Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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