MCID: PTT042
MIFTS: 15

Pitt-Hopkins-Like Syndrome

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

Aliases & Classifications for Pitt-Hopkins-Like Syndrome

MalaCards integrated aliases for Pitt-Hopkins-Like Syndrome:

Name: Pitt-Hopkins-Like Syndrome 53 59 6

Characteristics:

Orphanet epidemiological data:

59
pitt-hopkins-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA221150

Summaries for Pitt-Hopkins-Like Syndrome

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 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:

# Related Disease Score Top Affiliating Genes
1 pitt-hopkins-like syndrome 2 33.5 LOC101927089 NRXN1
2 pitt-hopkins-like syndrome 1 12.8
3 autism 15 9.9 CNTNAP2 LOC105375554
4 pitt-hopkins syndrome 9.9 CNTNAP2 NRXN1
5 pervasive developmental disorder 9.8 CNTNAP2 NRXN1
6 autism spectrum disorder 9.6 CNTNAP2 NRXN1

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

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

Anatomical Context for Pitt-Hopkins-Like Syndrome

Publications for Pitt-Hopkins-Like Syndrome

Variations for Pitt-Hopkins-Like Syndrome

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

6
(show top 50) (show all 488)
# Gene Variation Type Significance SNP ID Assembly Location
1 NRXN1 NM_001135659.2(NRXN1): c.818A> G (p.Asp273Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs144049982 GRCh37 Chromosome 2, 51253562: 51253562
2 NRXN1 NM_001135659.2(NRXN1): c.818A> G (p.Asp273Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs144049982 GRCh38 Chromosome 2, 51026424: 51026424
3 CNTNAP2 NM_014141.5(CNTNAP2): c.1504C> G (p.Leu502Val) single nucleotide variant Uncertain significance rs368470905 GRCh37 Chromosome 7, 147092706: 147092706
4 CNTNAP2 NM_014141.5(CNTNAP2): c.1504C> G (p.Leu502Val) single nucleotide variant Uncertain significance rs368470905 GRCh38 Chromosome 7, 147395614: 147395614
5 NRXN1 NM_001135659.2(NRXN1): c.569A> G (p.Asn190Ser) single nucleotide variant Uncertain significance rs200792504 GRCh37 Chromosome 2, 51254843: 51254843
6 NRXN1 NM_001135659.2(NRXN1): c.569A> G (p.Asn190Ser) single nucleotide variant Uncertain significance rs200792504 GRCh38 Chromosome 2, 51027705: 51027705
7 CNTNAP2 NM_014141.5(CNTNAP2): c.1311C> T (p.Ile437=) single nucleotide variant Conflicting interpretations of pathogenicity rs56356283 GRCh37 Chromosome 7, 146829564: 146829564
8 CNTNAP2 NM_014141.5(CNTNAP2): c.1311C> T (p.Ile437=) single nucleotide variant Conflicting interpretations of pathogenicity rs56356283 GRCh38 Chromosome 7, 147132472: 147132472
9 CNTNAP2 NM_014141.5(CNTNAP2): c.2356G> T (p.Val786Leu) single nucleotide variant Benign/Likely benign rs138517537 GRCh37 Chromosome 7, 147675054: 147675054
10 CNTNAP2 NM_014141.5(CNTNAP2): c.2356G> T (p.Val786Leu) single nucleotide variant Benign/Likely benign rs138517537 GRCh38 Chromosome 7, 147977962: 147977962
11 CNTNAP2 NM_014141.5(CNTNAP2): c.945C> G (p.Thr315=) single nucleotide variant Uncertain significance rs794727872 GRCh37 Chromosome 7, 146825790: 146825790
12 CNTNAP2 NM_014141.5(CNTNAP2): c.945C> G (p.Thr315=) single nucleotide variant Uncertain significance rs794727872 GRCh38 Chromosome 7, 147128698: 147128698
13 NRXN1 NM_001135659.2(NRXN1): c.4124C> T (p.Thr1375Ile) single nucleotide variant Uncertain significance rs200672080 GRCh37 Chromosome 2, 50280533: 50280533
14 NRXN1 NM_001135659.2(NRXN1): c.4124C> T (p.Thr1375Ile) single nucleotide variant Uncertain significance rs200672080 GRCh38 Chromosome 2, 50053395: 50053395
15 NRXN1 NM_001135659.2(NRXN1): c.3210A> C (p.Gly1070=) single nucleotide variant Conflicting interpretations of pathogenicity rs201886024 GRCh37 Chromosome 2, 50699590: 50699590
16 NRXN1 NM_001135659.2(NRXN1): c.3210A> C (p.Gly1070=) single nucleotide variant Conflicting interpretations of pathogenicity rs201886024 GRCh38 Chromosome 2, 50472452: 50472452
17 NRXN1 NM_001135659.2(NRXN1): c.587C> T (p.Pro196Leu) single nucleotide variant Uncertain significance rs199836119 GRCh37 Chromosome 2, 51254825: 51254825
18 NRXN1 NM_001135659.2(NRXN1): c.587C> T (p.Pro196Leu) single nucleotide variant Uncertain significance rs199836119 GRCh38 Chromosome 2, 51027687: 51027687
19 CNTNAP2 NM_014141.5(CNTNAP2): c.837G> A (p.Val279=) single nucleotide variant Conflicting interpretations of pathogenicity rs143507886 GRCh38 Chromosome 7, 147121061: 147121061
20 CNTNAP2 NM_014141.5(CNTNAP2): c.837G> A (p.Val279=) single nucleotide variant Conflicting interpretations of pathogenicity rs143507886 GRCh37 Chromosome 7, 146818153: 146818153
21 CNTNAP2 NM_014141.5(CNTNAP2): c.1480G> A (p.Glu494Lys) single nucleotide variant Uncertain significance rs149032771 GRCh37 Chromosome 7, 146997364: 146997364
22 CNTNAP2 NM_014141.5(CNTNAP2): c.1480G> A (p.Glu494Lys) single nucleotide variant Uncertain significance rs149032771 GRCh38 Chromosome 7, 147300272: 147300272
23 CNTNAP2 NM_014141.5(CNTNAP2): c.1777+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs770951811 GRCh37 Chromosome 7, 147183140: 147183140
24 CNTNAP2 NM_014141.5(CNTNAP2): c.1777+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs770951811 GRCh38 Chromosome 7, 147486048: 147486048
25 CNTNAP2 NM_014141.5(CNTNAP2): c.1786G> A (p.Glu596Lys) single nucleotide variant Uncertain significance rs141064983 GRCh37 Chromosome 7, 147259238: 147259238
26 CNTNAP2 NM_014141.5(CNTNAP2): c.1786G> A (p.Glu596Lys) single nucleotide variant Uncertain significance rs141064983 GRCh38 Chromosome 7, 147562146: 147562146
27 CNTNAP2 NM_014141.5(CNTNAP2): c.3155G> A (p.Arg1052His) single nucleotide variant Uncertain significance rs374739970 GRCh37 Chromosome 7, 147914524: 147914524
28 CNTNAP2 NM_014141.5(CNTNAP2): c.3155G> A (p.Arg1052His) single nucleotide variant Uncertain significance rs374739970 GRCh38 Chromosome 7, 148217432: 148217432
29 NRXN1 NM_001135659.2(NRXN1): c.4368G> A (p.Pro1456=) single nucleotide variant Uncertain significance rs151195816 GRCh37 Chromosome 2, 50149358: 50149358
30 NRXN1 NM_001135659.2(NRXN1): c.4368G> A (p.Pro1456=) single nucleotide variant Uncertain significance rs151195816 GRCh38 Chromosome 2, 49922220: 49922220
31 CNTNAP2 NM_014141.5(CNTNAP2): c.3476-15C> A single nucleotide variant Likely benign rs77706740 GRCh38 Chromosome 7, 148383634: 148383634
32 CNTNAP2 NM_014141.5(CNTNAP2): c.3476-15C> A single nucleotide variant Likely benign rs77706740 GRCh37 Chromosome 7, 148080726: 148080726
33 NRXN1 NM_001135659.2(NRXN1): c.*2766A> G single nucleotide variant Uncertain significance rs886056155 GRCh37 Chromosome 2, 50146316: 50146316
34 NRXN1 NM_001135659.2(NRXN1): c.*2766A> G single nucleotide variant Uncertain significance rs886056155 GRCh38 Chromosome 2, 49919178: 49919178
35 NRXN1 NM_001135659.2(NRXN1): c.*2672_*2675dupTTAG duplication Uncertain significance rs556394274 GRCh38 Chromosome 2, 49919269: 49919272
36 NRXN1 NM_001135659.2(NRXN1): c.*2672_*2675dupTTAG duplication Uncertain significance rs556394274 GRCh37 Chromosome 2, 50146407: 50146410
37 NRXN1 NM_001135659.2(NRXN1): c.*2514A> G single nucleotide variant Uncertain significance rs746884216 GRCh38 Chromosome 2, 49919430: 49919430
38 NRXN1 NM_001135659.2(NRXN1): c.*2514A> G single nucleotide variant Uncertain significance rs746884216 GRCh37 Chromosome 2, 50146568: 50146568
39 NRXN1 NM_001135659.2(NRXN1): c.*2387_*2389dupGAT duplication Uncertain significance rs530539369 GRCh37 Chromosome 2, 50146693: 50146695
40 NRXN1 NM_001135659.2(NRXN1): c.*2387_*2389dupGAT duplication Uncertain significance rs530539369 GRCh38 Chromosome 2, 49919555: 49919557
41 NRXN1 NM_001135659.2(NRXN1): c.*2384delT deletion Uncertain significance rs879374430 GRCh37 Chromosome 2, 50146698: 50146698
42 NRXN1 NM_001135659.2(NRXN1): c.*2384delT deletion Uncertain significance rs879374430 GRCh38 Chromosome 2, 49919560: 49919560
43 NRXN1 NM_001135659.2(NRXN1): c.*2286C> A single nucleotide variant Uncertain significance rs886056159 GRCh38 Chromosome 2, 49919658: 49919658
44 NRXN1 NM_001135659.2(NRXN1): c.*2286C> A single nucleotide variant Uncertain significance rs886056159 GRCh37 Chromosome 2, 50146796: 50146796
45 NRXN1 NM_001135659.2(NRXN1): c.*1723_*1724delAT deletion Uncertain significance rs886056160 GRCh37 Chromosome 2, 50147358: 50147359
46 NRXN1 NM_001135659.2(NRXN1): c.*1723_*1724delAT deletion Uncertain significance rs886056160 GRCh38 Chromosome 2, 49920220: 49920221
47 NRXN1 NM_001135659.2(NRXN1): c.*1090G> A single nucleotide variant Uncertain significance rs199680726 GRCh37 Chromosome 2, 50147992: 50147992
48 NRXN1 NM_001135659.2(NRXN1): c.*1090G> A single nucleotide variant Uncertain significance rs199680726 GRCh38 Chromosome 2, 49920854: 49920854
49 NRXN1 NM_001135659.2(NRXN1): c.*941dupT duplication Likely benign rs3839057 GRCh38 Chromosome 2, 49921003: 49921003
50 NRXN1 NM_001135659.2(NRXN1): c.*941dupT duplication Likely benign rs3839057 GRCh37 Chromosome 2, 50148141: 50148141

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 10.78 CNTNAP2 NRXN1

GO Terms for Pitt-Hopkins-Like Syndrome

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

Sources for Pitt-Hopkins-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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