MCID: PTT042
MIFTS: 17

Pitt-Hopkins-Like Syndrome

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

Aliases & Classifications for Pitt-Hopkins-Like Syndrome

MalaCards integrated aliases for Pitt-Hopkins-Like Syndrome:

Name: Pitt-Hopkins-Like Syndrome 53 59 29 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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 221150Disease definitionPitt-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 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 34.2 LOC101927089 NRXN1
2 pitt-hopkins-like syndrome 1 12.9
3 autism 15 10.0 CNTNAP2 LOC105375554
4 pitt-hopkins syndrome 10.0 CNTNAP2 NRXN1
5 pervasive developmental disorder 9.9 CNTNAP2 NRXN1
6 autism spectrum disorder 9.9 CNTNAP2 NRXN1
7 focal epilepsy 9.8 CNTNAP2 LOC105375554 LOC107986721

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

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

Variations for Pitt-Hopkins-Like Syndrome

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

6 (show top 50) (show all 570)
# Gene Variation Type Significance SNP ID Assembly Location
1 NRXN1 NM_001135659.2(NRXN1): c.2505C> G (p.Pro835=) single nucleotide variant Conflicting interpretations of pathogenicity rs147984237 GRCh37 Chromosome 2, 50733745: 50733745
2 NRXN1 NM_001135659.2(NRXN1): c.2505C> G (p.Pro835=) single nucleotide variant Conflicting interpretations of pathogenicity rs147984237 GRCh38 Chromosome 2, 50506607: 50506607
3 NRXN1 NM_001135659.2(NRXN1): c.2541C> T (p.Asn847=) single nucleotide variant Conflicting interpretations of pathogenicity rs115211871 GRCh37 Chromosome 2, 50733709: 50733709
4 NRXN1 NM_001135659.2(NRXN1): c.2541C> T (p.Asn847=) single nucleotide variant Conflicting interpretations of pathogenicity rs115211871 GRCh38 Chromosome 2, 50506571: 50506571
5 NRXN1 NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201818223 GRCh37 Chromosome 2, 50724745: 50724745
6 NRXN1 NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201818223 GRCh38 Chromosome 2, 50497607: 50497607
7 NRXN1 NM_001135659.2(NRXN1): c.2850G> A (p.Lys950=) single nucleotide variant Conflicting interpretations of pathogenicity rs192909520 GRCh37 Chromosome 2, 50724620: 50724620
8 NRXN1 NM_001135659.2(NRXN1): c.2850G> A (p.Lys950=) single nucleotide variant Conflicting interpretations of pathogenicity rs192909520 GRCh38 Chromosome 2, 50497482: 50497482
9 NRXN1 NM_001135659.2(NRXN1): c.3132G> A (p.Lys1044=) single nucleotide variant Uncertain significance rs201118246 GRCh37 Chromosome 2, 50723101: 50723101
10 NRXN1 NM_001135659.2(NRXN1): c.3132G> A (p.Lys1044=) single nucleotide variant Uncertain significance rs201118246 GRCh38 Chromosome 2, 50495963: 50495963
11 NRXN1 NM_001135659.2(NRXN1): c.511C> T (p.Leu171=) single nucleotide variant Benign rs1045874 GRCh37 Chromosome 2, 51254901: 51254901
12 NRXN1 NM_001135659.2(NRXN1): c.511C> T (p.Leu171=) single nucleotide variant Benign rs1045874 GRCh38 Chromosome 2, 51027763: 51027763
13 CNTNAP2 NM_014141.5(CNTNAP2): c.1659G> A (p.Ala553=) single nucleotide variant Benign rs34592169 GRCh37 Chromosome 7, 147092861: 147092861
14 CNTNAP2 NM_014141.5(CNTNAP2): c.1659G> A (p.Ala553=) single nucleotide variant Benign rs34592169 GRCh38 Chromosome 7, 147395769: 147395769
15 CNTNAP2 NM_014141.5(CNTNAP2): c.1710G> A (p.Ser570=) single nucleotide variant Benign/Likely benign rs2286128 GRCh37 Chromosome 7, 147183066: 147183066
16 CNTNAP2 NM_014141.5(CNTNAP2): c.1710G> A (p.Ser570=) single nucleotide variant Benign/Likely benign rs2286128 GRCh38 Chromosome 7, 147485974: 147485974
17 CNTNAP2 NM_014141.5(CNTNAP2): c.1777+10A> G single nucleotide variant Benign rs2286127 GRCh37 Chromosome 7, 147183143: 147183143
18 CNTNAP2 NM_014141.5(CNTNAP2): c.1777+10A> G single nucleotide variant Benign rs2286127 GRCh38 Chromosome 7, 147486051: 147486051
19 CNTNAP2 NM_014141.5(CNTNAP2): c.2256-6A> T single nucleotide variant Benign/Likely benign rs10240482 GRCh37 Chromosome 7, 147674948: 147674948
20 CNTNAP2 NM_014141.5(CNTNAP2): c.2256-6A> T single nucleotide variant Benign/Likely benign rs10240482 GRCh38 Chromosome 7, 147977856: 147977856
21 CNTNAP2 NM_014141.5(CNTNAP2): c.2280A> G (p.Ser760=) single nucleotide variant Benign rs10240503 GRCh37 Chromosome 7, 147674978: 147674978
22 CNTNAP2 NM_014141.5(CNTNAP2): c.2280A> G (p.Ser760=) single nucleotide variant Benign rs10240503 GRCh38 Chromosome 7, 147977886: 147977886
23 CNTNAP2 NM_014141.5(CNTNAP2): c.3248-4A> G single nucleotide variant Benign rs3779031 GRCh37 Chromosome 7, 147926734: 147926734
24 CNTNAP2 NM_014141.5(CNTNAP2): c.3248-4A> G single nucleotide variant Benign rs3779031 GRCh38 Chromosome 7, 148229642: 148229642
25 CNTNAP2 NM_014141.5(CNTNAP2): c.3723G> A (p.Ala1241=) single nucleotide variant Benign rs9648691 GRCh37 Chromosome 7, 148106490: 148106490
26 CNTNAP2 NM_014141.5(CNTNAP2): c.3723G> A (p.Ala1241=) single nucleotide variant Benign rs9648691 GRCh38 Chromosome 7, 148409398: 148409398
27 CNTNAP2 NM_014141.5(CNTNAP2): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs138738227 GRCh37 Chromosome 7, 146741075: 146741075
28 CNTNAP2 NM_014141.5(CNTNAP2): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs138738227 GRCh38 Chromosome 7, 147043983: 147043983
29 CNTNAP2 NM_014141.5(CNTNAP2): c.551-11_551-10insG insertion Benign rs35167289 GRCh37 Chromosome 7, 146805228: 146805229
30 CNTNAP2 NM_014141.5(CNTNAP2): c.551-11_551-10insG insertion Benign rs35167289 GRCh38 Chromosome 7, 147108136: 147108137
31 CNTNAP2 NM_014141.5(CNTNAP2): c.681C> T (p.His227=) single nucleotide variant Conflicting interpretations of pathogenicity rs142984073 GRCh37 Chromosome 7, 146805369: 146805369
32 CNTNAP2 NM_014141.5(CNTNAP2): c.681C> T (p.His227=) single nucleotide variant Conflicting interpretations of pathogenicity rs142984073 GRCh38 Chromosome 7, 147108277: 147108277
33 CNTNAP2 NM_014141.5(CNTNAP2): c.1854C> T (p.Gly618=) single nucleotide variant Benign/Likely benign rs61732849 GRCh37 Chromosome 7, 147259306: 147259306
34 CNTNAP2 NM_014141.5(CNTNAP2): c.1854C> T (p.Gly618=) single nucleotide variant Benign/Likely benign rs61732849 GRCh38 Chromosome 7, 147562214: 147562214
35 CNTNAP2 NM_014141.5(CNTNAP2): c.318C> T (p.Ser106=) single nucleotide variant Benign/Likely benign rs61732853 GRCh37 Chromosome 7, 146536912: 146536912
36 CNTNAP2 NM_014141.5(CNTNAP2): c.318C> T (p.Ser106=) single nucleotide variant Benign/Likely benign rs61732853 GRCh38 Chromosome 7, 146839820: 146839820
37 CNTNAP2 NM_014141.5(CNTNAP2): c.3522A> T (p.Gly1174=) single nucleotide variant Conflicting interpretations of pathogenicity rs141078449 GRCh37 Chromosome 7, 148080787: 148080787
38 CNTNAP2 NM_014141.5(CNTNAP2): c.3522A> T (p.Gly1174=) single nucleotide variant Conflicting interpretations of pathogenicity rs141078449 GRCh38 Chromosome 7, 148383695: 148383695
39 CNTNAP2 NM_014141.5(CNTNAP2): c.3797-6C> T single nucleotide variant Benign/Likely benign rs79777576 GRCh37 Chromosome 7, 148112503: 148112503
40 CNTNAP2 NM_014141.5(CNTNAP2): c.3797-6C> T single nucleotide variant Benign/Likely benign rs79777576 GRCh38 Chromosome 7, 148415411: 148415411
41 NRXN1 NM_001135659.2(NRXN1): c.1278+5A> T single nucleotide variant Conflicting interpretations of pathogenicity rs201802152 GRCh37 Chromosome 2, 50848338: 50848338
42 NRXN1 NM_001135659.2(NRXN1): c.1278+5A> T single nucleotide variant Conflicting interpretations of pathogenicity rs201802152 GRCh38 Chromosome 2, 50621200: 50621200
43 NRXN1 NM_001135659.2(NRXN1): c.3369C> T (p.Pro1123=) single nucleotide variant Conflicting interpretations of pathogenicity rs116236999 GRCh37 Chromosome 2, 50692695: 50692695
44 NRXN1 NM_001135659.2(NRXN1): c.3369C> T (p.Pro1123=) single nucleotide variant Conflicting interpretations of pathogenicity rs116236999 GRCh38 Chromosome 2, 50465557: 50465557
45 NRXN1 NM_001135659.2(NRXN1): c.3528G> A (p.Thr1176=) single nucleotide variant Benign/Likely benign rs80094872 GRCh37 Chromosome 2, 50464065: 50464065
46 NRXN1 NM_001135659.2(NRXN1): c.3528G> A (p.Thr1176=) single nucleotide variant Benign/Likely benign rs80094872 GRCh38 Chromosome 2, 50236927: 50236927
47 NRXN1 NM_001135659.2(NRXN1): c.4188G> A (p.Thr1396=) single nucleotide variant Benign/Likely benign rs74714098 GRCh37 Chromosome 2, 50280469: 50280469
48 NRXN1 NM_001135659.2(NRXN1): c.4188G> A (p.Thr1396=) single nucleotide variant Benign/Likely benign rs74714098 GRCh38 Chromosome 2, 50053331: 50053331
49 NRXN1 NM_001135659.2(NRXN1): c.871+9G> A single nucleotide variant Benign/Likely benign rs61658382 GRCh37 Chromosome 2, 51253500: 51253500
50 NRXN1 NM_001135659.2(NRXN1): c.871+9G> A single nucleotide variant Benign/Likely benign rs61658382 GRCh38 Chromosome 2, 51026362: 51026362

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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