MCID: PTT042
MIFTS: 36

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 52 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

NIH Rare Diseases : 52 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. 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). 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:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
2 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
3 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
4 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
5 impaired social interactions 58 31 hallmark (90%) Very frequent (99-80%) HP:0000735
6 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
7 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
8 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
9 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
10 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
11 chronic constipation 58 31 frequent (33%) Frequent (79-30%) HP:0012450
12 sleep-wake cycle disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0006979
13 hyperventilation 58 31 frequent (33%) Frequent (79-30%) HP:0002883
14 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
15 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
16 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
17 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
18 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
19 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
20 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
21 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
22 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
23 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
24 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
25 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
26 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
27 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
28 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
29 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
30 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
31 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
32 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
33 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
34 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
35 epileptic encephalopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0200134
36 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
37 flat occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0005469
38 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
39 pointed chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000307
40 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
41 high anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0009890
42 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
43 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
44 infra-orbital crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0100876
45 cerebral white matter hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012430
46 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
47 prominent glabella 58 31 occasional (7.5%) Occasional (29-5%) HP:0002057
48 perivascular spaces 58 31 occasional (7.5%) Occasional (29-5%) HP:0012520
49 bruxism 58 31 occasional (7.5%) Occasional (29-5%) HP:0003763
50 gluten intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0012538

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:

# 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
27439707 2016
2
Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. 6
21964664 2011
3
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
4
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 6
16571880 2006
5
Possible case of Pitt-Hopkins syndrome in sibs. 6
11568923 2001
6
Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review. 61
30873608 2020
7
A new case of Pitt-Hopkins-like syndrome 2? 61
28343708 2019
8
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 284) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NRXN1 NM_001330078.2(NRXN1):c.772+1078A>GSNV Conflicting interpretations of pathogenicity 167389 rs144049982 2:51253562-51253562 2:51026424-51026424
2 CNTNAP2 NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)SNV Conflicting interpretations of pathogenicity 166910 rs56356283 7:146829564-146829564 7:147132472-147132472
3 NRXN1 NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile)SNV Conflicting interpretations of pathogenicity 206281 rs200672080 2:50280533-50280533 2:50053395-50053395
4 NRXN1 NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=)SNV Conflicting interpretations of pathogenicity 206207 rs201886024 2:50699590-50699590 2:50472452-50472452
5 CNTNAP2 NM_014141.6(CNTNAP2):c.837G>A (p.Val279=)SNV Conflicting interpretations of pathogenicity 205212 rs143507886 7:146818153-146818153 7:147121061-147121061
6 NRXN1 NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)SNV Conflicting interpretations of pathogenicity 211693 rs151195816 2:50149358-50149358 2:49922220-49922220
7 NRXN1 NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=)SNV Conflicting interpretations of pathogenicity 93590 rs147984237 2:50733745-50733745 2:50506607-50506607
8 NRXN1 NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=)SNV Conflicting interpretations of pathogenicity 93591 rs115211871 2:50733709-50733709 2:50506571-50506571
9 NRXN1 NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)SNV Conflicting interpretations of pathogenicity 93592 rs201818223 2:50724745-50724745 2:50497607-50497607
10 NRXN1 NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=)SNV Conflicting interpretations of pathogenicity 93593 rs192909520 2:50724620-50724620 2:50497482-50497482
11 NRXN1 NM_001330078.2(NRXN1):c.3012G>A (p.Lys1004=)SNV Conflicting interpretations of pathogenicity 93595 rs201118246 2:50723101-50723101 2:50495963-50495963
12 CNTNAP2 NM_014141.6(CNTNAP2):c.1777+7G>ASNV Conflicting interpretations of pathogenicity 205216 rs770951811 7:147183140-147183140 7:147486048-147486048
13 CNTNAP2 NM_014141.6(CNTNAP2):c.681C>T (p.His227=)SNV Conflicting interpretations of pathogenicity 95577 rs142984073 7:146805369-146805369 7:147108277-147108277
14 NRXN1 NM_001330078.2(NRXN1):c.1158+26A>TSNV Conflicting interpretations of pathogenicity 129818 rs201802152 2:50848338-50848338 2:50621200-50621200
15 NRXN1 NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=)SNV Conflicting interpretations of pathogenicity 129820 rs116236999 2:50692695-50692695 2:50465557-50465557
16 CNTNAP2 NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=)SNV Conflicting interpretations of pathogenicity 136817 rs74354654 7:147600748-147600748 7:147903656-147903656
17 CNTNAP2 NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)SNV Conflicting interpretations of pathogenicity 136818 rs149185385 7:147815334-147815334 7:148118242-148118242
18 CNTNAP2 NM_014141.6(CNTNAP2):c.3247+15A>GSNV Conflicting interpretations of pathogenicity 136824 rs201602527 7:147914631-147914631 7:148217539-148217539
19 CNTNAP2 NM_014141.6(CNTNAP2):c.-49T>GSNV Conflicting interpretations of pathogenicity 136837 rs549396215 7:145813920-145813920 7:146116828-146116828
20 CNTNAP2 NM_014141.6(CNTNAP2):c.561T>C (p.Val187=)SNV Conflicting interpretations of pathogenicity 136839 rs201200400 7:146805249-146805249 7:147108157-147108157
21 NRXN1 NM_001330078.2(NRXN1):c.-922+7A>CSNV Conflicting interpretations of pathogenicity 138540 rs200115353 2:51259112-51259112 2:51031974-51031974
22 NRXN1 NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=)SNV Conflicting interpretations of pathogenicity 138544 rs587781101 2:50149370-50149370 2:49922232-49922232
23 NRXN1 NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=)SNV Conflicting interpretations of pathogenicity 138545 rs143495349 2:50149331-50149331 2:49922193-49922193
24 NRXN1 NM_001330078.2(NRXN1):c.4392T>C (p.His1464=)SNV Conflicting interpretations of pathogenicity 138546 rs112536447 2:50149214-50149214 2:49922076-49922076
25 NRXN1 NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)SNV Conflicting interpretations of pathogenicity 138547 rs113380721 2:50149133-50149133 2:49921995-49921995
26 NRXN1 NM_001330078.2(NRXN1):c.-34C>ASNV Conflicting interpretations of pathogenicity 138548 rs200335720 2:51255445-51255445 2:51028307-51028307
27 NRXN1 NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=)SNV Conflicting interpretations of pathogenicity 138549 rs201727684 2:50780119-50780119 2:50552981-50552981
28 NRXN1 NM_001330078.2(NRXN1):c.222C>T (p.Gly74=)SNV Conflicting interpretations of pathogenicity 138553 rs201592993 2:51255190-51255190 2:51028052-51028052
29 NRXN1 NM_001330078.2(NRXN1):c.501C>G (p.Leu167=)SNV Conflicting interpretations of pathogenicity 138557 rs200248561 2:51254911-51254911 2:51027773-51027773
30 NRXN1 NM_001330078.2(NRXN1):c.3384T>C (p.Phe1128=)SNV Conflicting interpretations of pathogenicity 336545 rs751894635 2:50464089-50464089 2:50236951-50236951
31 CNTNAP2 NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)SNV Conflicting interpretations of pathogenicity 128805 rs141078449 7:148080787-148080787 7:148383695-148383695
32 NRXN1 NM_001330078.2(NRXN1):c.492C>T (p.Ala164=)SNV Conflicting interpretations of pathogenicity 336555 rs201180707 2:51254920-51254920 2:51027782-51027782
33 NRXN1 NM_001330078.2(NRXN1):c.4060A>T (p.Thr1354Ser)SNV Conflicting interpretations of pathogenicity 336541 rs202006815 2:50280477-50280477 2:50053339-50053339
34 CNTNAP2 NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=)SNV Conflicting interpretations of pathogenicity 359179 rs776956365 7:146805333-146805333 7:147108241-147108241
35 CNTNAP2 NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=)SNV Conflicting interpretations of pathogenicity 359189 rs144496909 7:147815286-147815286 7:148118194-148118194
36 CNTNAP2 NM_014141.6(CNTNAP2):c.209-11C>TSNV Conflicting interpretations of pathogenicity 359176 rs369056998 7:146536792-146536792 7:146839700-146839700
37 CNTNAP2 NM_014141.6(CNTNAP2):c.2554+14G>TSNV Conflicting interpretations of pathogenicity 359190 rs546437079 7:147815394-147815394 7:148118302-148118302
38 CNTNAP2 NM_014141.6(CNTNAP2):c.3651G>A (p.Ser1217=)SNV Uncertain significance 359194 rs377455159 7:148080916-148080916 7:148383824-148383824
39 CNTNAP2 NM_014141.6(CNTNAP2):c.*159G>ASNV Uncertain significance 359198 rs886062054 7:148112867-148112867 7:148415775-148415775
40 CNTNAP2 NM_014141.6(CNTNAP2):c.*176C>ASNV Uncertain significance 359201 rs200052441 7:148112884-148112884 7:148415792-148415792
41 CNTNAP2 NM_014141.6(CNTNAP2):c.2255+12C>TSNV Uncertain significance 359187 rs749270618 7:147600825-147600825 7:147903733-147903733
42 CNTNAP2 NM_014141.6(CNTNAP2):c.2422T>C (p.Ser808Pro)SNV Uncertain significance 359188 rs773802167 7:147815248-147815248 7:148118156-148118156
43 CNTNAP2 NM_014141.6(CNTNAP2):c.*4276C>TSNV Uncertain significance 359267 rs17171000 7:148116984-148116984 7:148419892-148419892
44 CNTNAP2 NM_014141.6(CNTNAP2):c.*5268G>TSNV Uncertain significance 359276 rs886062078 7:148117976-148117976 7:148420884-148420884
45 CNTNAP2 NM_014141.6(CNTNAP2):c.*1482A>TSNV Uncertain significance 359220 rs186254614 7:148114190-148114190 7:148417098-148417098
46 CNTNAP2 NM_014141.6(CNTNAP2):c.*2013A>GSNV Uncertain significance 359228 rs73155921 7:148114721-148114721 7:148417629-148417629
47 CNTNAP2 NM_014141.6(CNTNAP2):c.*2156C>TSNV Uncertain significance 359230 rs886062064 7:148114864-148114864 7:148417772-148417772
48 CNTNAP2 NM_014141.6(CNTNAP2):c.*2309G>TSNV Uncertain significance 359232 rs886062065 7:148115017-148115017 7:148417925-148417925
49 CNTNAP2 NM_014141.6(CNTNAP2):c.*2315C>TSNV Uncertain significance 359233 rs886062066 7:148115023-148115023 7:148417931-148417931
50 CNTNAP2 NM_014141.6(CNTNAP2):c.550+10G>ASNV Uncertain significance 359177 rs776175685 7:146741156-146741156 7:147044064-147044064

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 10.79 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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