PTHSL1
MCID: PTT029
MIFTS: 35

Pitt-Hopkins-Like Syndrome 1 (PTHSL1)

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

Aliases & Classifications for Pitt-Hopkins-Like Syndrome 1

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

Name: Pitt-Hopkins-Like Syndrome 1 57 75 29 6 73
Cortical Dysplasia-Focal Epilepsy Syndrome 57 12 59 75 13 15 73
Cdfes 57 12 59 75
Cdfe Syndrome 12 59
Pthsl1 57 75
Cortical Dysplasia-Focal Epilepsy Syndrome; Cdfes 57
Dysplasia, Cortical-Focal Epilepsy Syndrome 40
Pitt-Hopkins Like Syndrome 1 57
Mesh; D006985 75
Mesh; D008607 75

Characteristics:

Orphanet epidemiological data:

59
cortical dysplasia-focal epilepsy syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset of seizures in infancy or early childhood


HPO:

32
pitt-hopkins-like syndrome 1:
Onset and clinical course phenotypic variability


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Pitt-Hopkins-Like Syndrome 1

UniProtKB/Swiss-Prot : 75 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 mental retardation develop. Pitt-Hopkins-like syndrome 1: A syndrome characterized by severe mental retardation 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.

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 Like 2), and among its related pathways/superpathways are Neuroscience and L1CAM interactions. Affiliated tissues include brain, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A brain disease characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has material basis in homozygous or compound heterozygous mutation in the CNTNAP2 gene on chromosome 7q35-q36.

OMIM : 57 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)

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:

# Related Disease Score Top Affiliating Genes
1 pitt-hopkins syndrome 11.3
2 pitt-hopkins-like syndrome 2 11.3
3 epilepsy 9.8 CNTN2 CNTNAP2
4 demyelinating polyneuropathy 9.8 CNTN1 CNTN2

Symptoms & Phenotypes for Pitt-Hopkins-Like Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
spasticity
absent speech
generalized seizures
focal seizures
more
Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Head:
large head circumference (in some patients)

Respiratory:
hyperventilation (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic behavior
stereotypic behavior
inattention

Muscle Soft Tissue:
hypotonia

Head And Neck Face:
coarse facial features (in some patients)


Clinical features from OMIM:

610042

Human phenotypes related to Pitt-Hopkins-Like Syndrome 1:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 ataxia 32 HP:0001251
4 spasticity 32 HP:0001257
5 eeg abnormality 32 HP:0002353
6 global developmental delay 32 HP:0001263
7 stereotypy 32 HP:0000733
8 absent speech 32 HP:0001344
9 reduced tendon reflexes 32 HP:0001315
10 impaired social interactions 32 HP:0000735
11 aggressive behavior 32 HP:0000718
12 progressive language deterioration 32 HP:0007064
13 hyperactivity 32 HP:0000752
14 delayed gross motor development 32 HP:0002194
15 language impairment 32 HP:0002463
16 cortical dysplasia 32 HP:0002539
17 poor speech 32 HP:0002465
18 focal-onset seizure 32 HP:0007359
19 generalized-onset seizure 32 HP:0002197

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 Pitt-Hopkins-Like Syndrome 1 29 CNTNAP2

Anatomical Context for Pitt-Hopkins-Like Syndrome 1

MalaCards organs/tissues related to Pitt-Hopkins-Like Syndrome 1:

41
Brain

Publications for Pitt-Hopkins-Like Syndrome 1

Variations for Pitt-Hopkins-Like Syndrome 1

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

6 (show top 50) (show all 678)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNTNAP2 NM_014141.5(CNTNAP2): c.3709delG (p.Asp1237Ilefs) deletion Pathogenic rs730880275 GRCh37 Chromosome 7, 148080974: 148080974
2 CNTNAP2 NM_014141.5(CNTNAP2): c.3709delG (p.Asp1237Ilefs) deletion Pathogenic rs730880275 GRCh38 Chromosome 7, 148383882: 148383882
3 CNTNAP2 NM_014141.5(CNTNAP2): c.2606T> C (p.Ile869Thr) single nucleotide variant risk factor rs121908445 GRCh37 Chromosome 7, 147844634: 147844634
4 CNTNAP2 NM_014141.5(CNTNAP2): c.2606T> C (p.Ile869Thr) single nucleotide variant risk factor rs121908445 GRCh38 Chromosome 7, 148147542: 148147542
5 CNTNAP2 NM_014141.5(CNTNAP2): c.(?_97)+117643_(1670_?)+6605del deletion Pathogenic NCBI36 Chromosome 7, 145562641: 146730410
6 CNTNAP2 NM_014141.5(CNTNAP2): c.(?_97)+117643_(1670_?)+6605del deletion Pathogenic GRCh37 Chromosome 7, 145931708: 147099477
7 CNTNAP2 NM_014141.5(CNTNAP2): c.(?_97)+117643_(1670_?)+6605del deletion Pathogenic GRCh38 Chromosome 7, 146234616: 147402385
8 CNTNAP2 NM_014141.5(CNTNAP2): c.1671-1G> T single nucleotide variant Pathogenic rs730880276 GRCh37 Chromosome 7, 147183026: 147183026
9 CNTNAP2 NM_014141.5(CNTNAP2): c.1671-1G> T single nucleotide variant Pathogenic rs730880276 GRCh38 Chromosome 7, 147485934: 147485934
10 CNTNAP2 NM_014141.5(CNTNAP2): c.(?_550)+15275_(1349_?)-61303del deletion Pathogenic NCBI36 Chromosome 7, 146387354: 146566863
11 CNTNAP2 NM_014141.5(CNTNAP2): c.(?_550)+15275_(1349_?)-61303del deletion Pathogenic GRCh37 Chromosome 7, 146756421: 146935930
12 CNTNAP2 NM_014141.5(CNTNAP2): c.(?_550)+15275_(1349_?)-61303del deletion Pathogenic GRCh38 Chromosome 7, 147059329: 147238838
13 CNTNAP2 NM_014141.5(CNTNAP2): c.1083G> A (p.Val361=) single nucleotide variant Benign/Likely benign rs139180845 GRCh37 Chromosome 7, 146825928: 146825928
14 CNTNAP2 NM_014141.5(CNTNAP2): c.1083G> A (p.Val361=) single nucleotide variant Benign/Likely benign rs139180845 GRCh38 Chromosome 7, 147128836: 147128836
15 CNTNAP2 NM_014141.5(CNTNAP2): c.1220A> G (p.Asn407Ser) single nucleotide variant Benign/Likely benign rs143877693 GRCh37 Chromosome 7, 146829473: 146829473
16 CNTNAP2 NM_014141.5(CNTNAP2): c.1220A> G (p.Asn407Ser) single nucleotide variant Benign/Likely benign rs143877693 GRCh38 Chromosome 7, 147132381: 147132381
17 CNTNAP2 NM_014141.5(CNTNAP2): c.1659G> A (p.Ala553=) single nucleotide variant Benign rs34592169 GRCh37 Chromosome 7, 147092861: 147092861
18 CNTNAP2 NM_014141.5(CNTNAP2): c.1659G> A (p.Ala553=) single nucleotide variant Benign rs34592169 GRCh38 Chromosome 7, 147395769: 147395769
19 CNTNAP2 NM_014141.5(CNTNAP2): c.1710G> A (p.Ser570=) single nucleotide variant Benign/Likely benign rs2286128 GRCh37 Chromosome 7, 147183066: 147183066
20 CNTNAP2 NM_014141.5(CNTNAP2): c.1710G> A (p.Ser570=) single nucleotide variant Benign/Likely benign rs2286128 GRCh38 Chromosome 7, 147485974: 147485974
21 CNTNAP2 NM_014141.5(CNTNAP2): c.1777+10A> G single nucleotide variant Benign rs2286127 GRCh37 Chromosome 7, 147183143: 147183143
22 CNTNAP2 NM_014141.5(CNTNAP2): c.1777+10A> G single nucleotide variant Benign rs2286127 GRCh38 Chromosome 7, 147486051: 147486051
23 CNTNAP2 NM_014141.5(CNTNAP2): c.2153G> A (p.Trp718Ter) single nucleotide variant Pathogenic rs398124268 GRCh37 Chromosome 7, 147600711: 147600711
24 CNTNAP2 NM_014141.5(CNTNAP2): c.2153G> A (p.Trp718Ter) single nucleotide variant Pathogenic rs398124268 GRCh38 Chromosome 7, 147903619: 147903619
25 CNTNAP2 NM_014141.5(CNTNAP2): c.2256-6A> T single nucleotide variant Benign/Likely benign rs10240482 GRCh37 Chromosome 7, 147674948: 147674948
26 CNTNAP2 NM_014141.5(CNTNAP2): c.2256-6A> T single nucleotide variant Benign/Likely benign rs10240482 GRCh38 Chromosome 7, 147977856: 147977856
27 CNTNAP2 NM_014141.5(CNTNAP2): c.2280A> G (p.Ser760=) single nucleotide variant Benign rs10240503 GRCh37 Chromosome 7, 147674978: 147674978
28 CNTNAP2 NM_014141.5(CNTNAP2): c.2280A> G (p.Ser760=) single nucleotide variant Benign rs10240503 GRCh38 Chromosome 7, 147977886: 147977886
29 CNTNAP2 NM_014141.5(CNTNAP2): c.2892G> A (p.Ser964=) single nucleotide variant Conflicting interpretations of pathogenicity rs148104020 GRCh37 Chromosome 7, 147869452: 147869452
30 CNTNAP2 NM_014141.5(CNTNAP2): c.2892G> A (p.Ser964=) single nucleotide variant Conflicting interpretations of pathogenicity rs148104020 GRCh38 Chromosome 7, 148172360: 148172360
31 CNTNAP2 NM_014141.5(CNTNAP2): c.3248-4A> G single nucleotide variant Benign rs3779031 GRCh37 Chromosome 7, 147926734: 147926734
32 CNTNAP2 NM_014141.5(CNTNAP2): c.3248-4A> G single nucleotide variant Benign rs3779031 GRCh38 Chromosome 7, 148229642: 148229642
33 CNTNAP2 NM_014141.5(CNTNAP2): c.3382-7C> T single nucleotide variant Benign rs189589051 GRCh37 Chromosome 7, 147964118: 147964118
34 CNTNAP2 NM_014141.5(CNTNAP2): c.3382-7C> T single nucleotide variant Benign rs189589051 GRCh38 Chromosome 7, 148267026: 148267026
35 CNTNAP2 NM_014141.5(CNTNAP2): c.354C> T (p.Ser118=) single nucleotide variant Conflicting interpretations of pathogenicity rs141831869 GRCh37 Chromosome 7, 146536948: 146536948
36 CNTNAP2 NM_014141.5(CNTNAP2): c.354C> T (p.Ser118=) single nucleotide variant Conflicting interpretations of pathogenicity rs141831869 GRCh38 Chromosome 7, 146839856: 146839856
37 CNTNAP2 NM_014141.5(CNTNAP2): c.3633G> A (p.Glu1211=) single nucleotide variant Benign rs138477292 GRCh37 Chromosome 7, 148080898: 148080898
38 CNTNAP2 NM_014141.5(CNTNAP2): c.3633G> A (p.Glu1211=) single nucleotide variant Benign rs138477292 GRCh38 Chromosome 7, 148383806: 148383806
39 CNTNAP2 NM_014141.5(CNTNAP2): c.3716-10_3716-7dupTTCT duplication Conflicting interpretations of pathogenicity rs142426153 GRCh37 Chromosome 7, 148106473: 148106476
40 CNTNAP2 NM_014141.5(CNTNAP2): c.3716-10_3716-7dupTTCT duplication Conflicting interpretations of pathogenicity rs142426153 GRCh38 Chromosome 7, 148409381: 148409384
41 CNTNAP2 NM_014141.5(CNTNAP2): c.3716-6C> G single nucleotide variant Benign rs77025884 GRCh37 Chromosome 7, 148106477: 148106477
42 CNTNAP2 NM_014141.5(CNTNAP2): c.3716-6C> G single nucleotide variant Benign rs77025884 GRCh38 Chromosome 7, 148409385: 148409385
43 CNTNAP2 NM_014141.5(CNTNAP2): c.3723G> A (p.Ala1241=) single nucleotide variant Benign rs9648691 GRCh37 Chromosome 7, 148106490: 148106490
44 CNTNAP2 NM_014141.5(CNTNAP2): c.3723G> A (p.Ala1241=) single nucleotide variant Benign rs9648691 GRCh38 Chromosome 7, 148409398: 148409398
45 CNTNAP2 NM_014141.5(CNTNAP2): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs138738227 GRCh37 Chromosome 7, 146741075: 146741075
46 CNTNAP2 NM_014141.5(CNTNAP2): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs138738227 GRCh38 Chromosome 7, 147043983: 147043983
47 CNTNAP2 NM_014141.5(CNTNAP2): c.551-11_551-10insG insertion Benign rs35167289 GRCh37 Chromosome 7, 146805228: 146805229
48 CNTNAP2 NM_014141.5(CNTNAP2): c.551-11_551-10insG insertion Benign rs35167289 GRCh38 Chromosome 7, 147108136: 147108137
49 CNTNAP2 NM_014141.5(CNTNAP2): c.681C> T (p.His227=) single nucleotide variant Conflicting interpretations of pathogenicity rs142984073 GRCh37 Chromosome 7, 146805369: 146805369
50 CNTNAP2 NM_014141.5(CNTNAP2): c.681C> T (p.His227=) single nucleotide variant Conflicting interpretations of pathogenicity rs142984073 GRCh38 Chromosome 7, 147108277: 147108277

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

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

# Super pathways Score Top Affiliating Genes
1 11.69 CNTN2 CNTNAP2
2
Show member pathways
11.05 CNTN1 CNTN2
3 10.96 CNTN1 CNTN2 CNTNAP2

GO Terms for Pitt-Hopkins-Like Syndrome 1

Cellular components related to Pitt-Hopkins-Like Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.4 CNTN2 CNTNAP2
2 axon GO:0030424 9.37 CNTN2 CNTNAP2
3 myelin sheath GO:0043209 9.32 CNTN1 CNTN2
4 anchored component of membrane GO:0031225 9.26 CNTN1 CNTN2
5 voltage-gated potassium channel complex GO:0008076 9.16 CNTN2 CNTNAP2
6 juxtaparanode region of axon GO:0044224 8.96 CNTN2 CNTNAP2
7 anchored component of postsynaptic membrane GO:0099025 8.62 CNTN1 CNTN2

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.43 CNTN1 CNTN2 CNTNAP2
2 nervous system development GO:0007399 9.37 CNTN1 CNTN2
3 neuron projection development GO:0031175 9.33 CNTN1 CNTN2 CNTNAP2
4 learning GO:0007612 9.32 CNTN2 CNTNAP2
5 protein localization to juxtaparanode region of axon GO:0071205 8.96 CNTN2 CNTNAP2
6 clustering of voltage-gated potassium channels GO:0045163 8.62 CNTN2 CNTNAP2

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate binding GO:0030246 8.62 CNTN1 CNTN2

Sources for Pitt-Hopkins-Like Syndrome 1

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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