MCID: PTT042
MIFTS: 38

Pitt-Hopkins-Like Syndrome

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

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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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

Related Diseases for Pitt-Hopkins-Like Syndrome

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



Diseases related to Pitt-Hopkins-Like Syndrome

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

Drugs & Therapeutics for Pitt-Hopkins-Like Syndrome

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

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

Anatomical Context for Pitt-Hopkins-Like Syndrome

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
32576985 2020
2
Mutation analysis of the NRXN1 gene in autism spectrum disorders. 6
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
27439707 2016
4
Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment. 6
26843181 2016
5
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. 6
26742492 2016
6
Epilepsy with auditory features: A heterogeneous clinico-molecular disease. 6
27066544 2015
7
Rare copy number variants are common in young children with autism spectrum disorder. 6
25661985 2015
8
A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion. 6
25614873 2014
9
Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis. 6
25149956 2014
10
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. 6
23533028 2013
11
Investigation of NRXN1 deletions: clinical and molecular characterization. 6
23495017 2013
12
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. 6
23472757 2013
13
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. 6
22617343 2012
14
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation. 6
22872700 2012
15
Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. 6
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
22031302 2011
17
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. 6
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
19896112 2009
19
Gene associated with seizures, autism, and hepatomegaly in an Amish girl. 6
19302947 2009
20
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 6
16571880 2006
21
Possible case of Pitt-Hopkins syndrome in sibs. 6
11568923 2001
22
Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review. 61
30873608 2020
23
A new case of Pitt-Hopkins-like syndrome 2? 61
28343708 2019
24
Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder. 61
26273832 2015

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

Expression for Pitt-Hopkins-Like Syndrome

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

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 10.8 NRXN1 CNTNAP2

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 for Pitt-Hopkins-Like Syndrome

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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