MCID: PTT029
MIFTS: 26

Pitt-Hopkins-Like Syndrome 1

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Fetal diseases, Mental 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 29 13 6 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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 610042
Disease Ontology 12 DOID:0090130
ICD10 33 Q04.8
Orphanet 59 ORPHA163681
UMLS via Orphanet 74 C1864887
ICD10 via Orphanet 34 Q04.8
MeSH 44 D054220

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). 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 11.2
2 pitt-hopkins-like syndrome 2 11.2

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 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 reduced tendon reflexes 32 HP:0001315
4 impaired social interactions 32 HP:0000735
5 hyperactivity 32 HP:0000752
6 delayed gross motor development 32 HP:0002194
7 cortical dysplasia 32 HP:0002539
8 progressive language deterioration 32 HP:0007064

Drugs & Therapeutics for Pitt-Hopkins-Like Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies Recruiting NCT02890641

Search 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
2 Cortical Dysplasia-Focal Epilepsy Syndrome 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 542)
# 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.1504C> G (p.Leu502Val) single nucleotide variant Uncertain significance rs368470905 GRCh37 Chromosome 7, 147092706: 147092706
14 CNTNAP2 NM_014141.5(CNTNAP2): c.1504C> G (p.Leu502Val) single nucleotide variant Uncertain significance rs368470905 GRCh38 Chromosome 7, 147395614: 147395614
15 CNTNAP2 NM_014141.5(CNTNAP2): c.73G> A (p.Ala25Thr) single nucleotide variant Uncertain significance rs200866893 GRCh37 Chromosome 7, 145814041: 145814041
16 CNTNAP2 NM_014141.5(CNTNAP2): c.73G> A (p.Ala25Thr) single nucleotide variant Uncertain significance rs200866893 GRCh38 Chromosome 7, 146116949: 146116949
17 CNTNAP2 NM_014141.5(CNTNAP2): c.1311C> T (p.Ile437=) single nucleotide variant Conflicting interpretations of pathogenicity rs56356283 GRCh37 Chromosome 7, 146829564: 146829564
18 CNTNAP2 NM_014141.5(CNTNAP2): c.1311C> T (p.Ile437=) single nucleotide variant Conflicting interpretations of pathogenicity rs56356283 GRCh38 Chromosome 7, 147132472: 147132472
19 CNTNAP2 NM_014141.5(CNTNAP2): c.1603G> A (p.Glu535Lys) single nucleotide variant Uncertain significance rs76475298 GRCh37 Chromosome 7, 147092805: 147092805
20 CNTNAP2 NM_014141.5(CNTNAP2): c.1603G> A (p.Glu535Lys) single nucleotide variant Uncertain significance rs76475298 GRCh38 Chromosome 7, 147395713: 147395713
21 CNTNAP2 NM_014141.5(CNTNAP2): c.2242G> T (p.Asp748Tyr) single nucleotide variant Uncertain significance rs371691712 GRCh37 Chromosome 7, 147600800: 147600800
22 CNTNAP2 NM_014141.5(CNTNAP2): c.2242G> T (p.Asp748Tyr) single nucleotide variant Uncertain significance rs371691712 GRCh38 Chromosome 7, 147903708: 147903708
23 CNTNAP2 NM_014141.5(CNTNAP2): c.2356G> T (p.Val786Leu) single nucleotide variant Benign/Likely benign rs138517537 GRCh37 Chromosome 7, 147675054: 147675054
24 CNTNAP2 NM_014141.5(CNTNAP2): c.2356G> T (p.Val786Leu) single nucleotide variant Benign/Likely benign rs138517537 GRCh38 Chromosome 7, 147977962: 147977962
25 CNTNAP2 NM_014141.5(CNTNAP2): c.136G> A (p.Val46Met) single nucleotide variant Uncertain significance rs137924687 GRCh37 Chromosome 7, 146471401: 146471401
26 CNTNAP2 NM_014141.5(CNTNAP2): c.136G> A (p.Val46Met) single nucleotide variant Uncertain significance rs137924687 GRCh38 Chromosome 7, 146774309: 146774309
27 CNTNAP2 NM_014141.5(CNTNAP2): c.3355C> T (p.Arg1119Cys) single nucleotide variant Uncertain significance rs367664952 GRCh37 Chromosome 7, 147926845: 147926845
28 CNTNAP2 NM_014141.5(CNTNAP2): c.3355C> T (p.Arg1119Cys) single nucleotide variant Uncertain significance rs367664952 GRCh38 Chromosome 7, 148229753: 148229753
29 CNTNAP2 NM_014141.5(CNTNAP2): c.341G> A (p.Arg114Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs189731792 GRCh37 Chromosome 7, 146536935: 146536935
30 CNTNAP2 NM_014141.5(CNTNAP2): c.341G> A (p.Arg114Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs189731792 GRCh38 Chromosome 7, 146839843: 146839843
31 CNTNAP2 NM_014141.5(CNTNAP2): c.273T> C (p.Asn91=) single nucleotide variant Conflicting interpretations of pathogenicity rs773595457 GRCh37 Chromosome 7, 146536867: 146536867
32 CNTNAP2 NM_014141.5(CNTNAP2): c.273T> C (p.Asn91=) single nucleotide variant Conflicting interpretations of pathogenicity rs773595457 GRCh38 Chromosome 7, 146839775: 146839775
33 CNTNAP2 NM_014141.5(CNTNAP2): c.945C> G (p.Thr315=) single nucleotide variant Uncertain significance rs794727872 GRCh37 Chromosome 7, 146825790: 146825790
34 CNTNAP2 NM_014141.5(CNTNAP2): c.945C> G (p.Thr315=) single nucleotide variant Uncertain significance rs794727872 GRCh38 Chromosome 7, 147128698: 147128698
35 CNTNAP2 NM_014141.5(CNTNAP2): c.1165C> T (p.Arg389Trp) single nucleotide variant Uncertain significance rs375172684 GRCh37 Chromosome 7, 146829418: 146829418
36 CNTNAP2 NM_014141.5(CNTNAP2): c.1165C> T (p.Arg389Trp) single nucleotide variant Uncertain significance rs375172684 GRCh38 Chromosome 7, 147132326: 147132326
37 CNTNAP2 NM_014141.5(CNTNAP2): c.65T> C (p.Leu22Pro) single nucleotide variant Uncertain significance rs768374052 GRCh37 Chromosome 7, 145814033: 145814033
38 CNTNAP2 NM_014141.5(CNTNAP2): c.65T> C (p.Leu22Pro) single nucleotide variant Uncertain significance rs768374052 GRCh38 Chromosome 7, 146116941: 146116941
39 CNTNAP2 NM_014141.5(CNTNAP2): c.208G> C (p.Gly70Arg) single nucleotide variant Uncertain significance rs758143699 GRCh37 Chromosome 7, 146471473: 146471473
40 CNTNAP2 NM_014141.5(CNTNAP2): c.208G> C (p.Gly70Arg) single nucleotide variant Uncertain significance rs758143699 GRCh38 Chromosome 7, 146774381: 146774381
41 CNTNAP2 NM_014141.5(CNTNAP2): c.355G> A (p.Asp119Asn) single nucleotide variant Uncertain significance rs777035367 GRCh37 Chromosome 7, 146536949: 146536949
42 CNTNAP2 NM_014141.5(CNTNAP2): c.355G> A (p.Asp119Asn) single nucleotide variant Uncertain significance rs777035367 GRCh38 Chromosome 7, 146839857: 146839857
43 CNTNAP2 NM_014141.5(CNTNAP2): c.400T> G (p.Trp134Gly) single nucleotide variant Uncertain significance rs139694086 GRCh37 Chromosome 7, 146536994: 146536994
44 CNTNAP2 NM_014141.5(CNTNAP2): c.400T> G (p.Trp134Gly) single nucleotide variant Uncertain significance rs139694086 GRCh38 Chromosome 7, 146839902: 146839902
45 CNTNAP2 NM_014141.5(CNTNAP2): c.416A> G (p.Asn139Ser) single nucleotide variant Uncertain significance rs370517200 GRCh38 Chromosome 7, 147043920: 147043920
46 CNTNAP2 NM_014141.5(CNTNAP2): c.416A> G (p.Asn139Ser) single nucleotide variant Uncertain significance rs370517200 GRCh37 Chromosome 7, 146741012: 146741012
47 CNTNAP2 NM_014141.5(CNTNAP2): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance rs781338949 GRCh37 Chromosome 7, 146741032: 146741032
48 CNTNAP2 NM_014141.5(CNTNAP2): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance rs781338949 GRCh38 Chromosome 7, 147043940: 147043940
49 CNTNAP2 NM_014141.5(CNTNAP2): c.512G> T (p.Arg171Leu) single nucleotide variant Uncertain significance rs368487049 GRCh38 Chromosome 7, 147044016: 147044016
50 CNTNAP2 NM_014141.5(CNTNAP2): c.512G> T (p.Arg171Leu) single nucleotide variant Uncertain significance rs368487049 GRCh37 Chromosome 7, 146741108: 146741108

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

GO Terms for Pitt-Hopkins-Like Syndrome 1

Sources for Pitt-Hopkins-Like Syndrome 1

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