MCID: PTT029
MIFTS: 25

Pitt-Hopkins-Like Syndrome 1

Categories: Genetic diseases, Fetal diseases, Rare diseases, Neuronal 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 53 71 28 69
Cortical Dysplasia-Focal Epilepsy Syndrome 53 12 55 71 28 13 69
Cdfes 53 12 55 71
Cdfe Syndrome 12 55
Pthsl1 53 71
Cortical Dysplasia-Focal Epilepsy Syndrome; Cdfes 53
Pitt-Hopkins Like Syndrome 1 53
Mesh; D006985 71
Mesh; D008607 71

Characteristics:

Orphanet epidemiological data:

55
cortical dysplasia-focal epilepsy syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

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


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 610042
Disease Ontology 12 DOID:0090130
ICD10 32 Q04.8
Orphanet 55 ORPHA163681
UMLS via Orphanet 70 C1864887
ICD10 via Orphanet 33 Q04.8
MeSH 41 D054220

Summaries for Pitt-Hopkins-Like Syndrome 1

UniProtKB/Swiss-Prot : 71 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, and has symptoms including seizures, intellectual disability and reduced tendon reflexes. An important gene associated with Pitt-Hopkins-Like Syndrome 1 is CNTNAP2 (Contactin Associated Protein Like 2). Affiliated tissues include brain.

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 : 53 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:

53
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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 intellectual disability 31 HP:0001249
3 reduced tendon reflexes 31 HP:0001315
4 impaired social interactions 31 HP:0000735
5 hyperactivity 31 HP:0000752
6 delayed gross motor development 31 HP:0002194
7 cortical dysplasia 31 HP:0002539
8 progressive language deterioration 31 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 28
2 Cortical Dysplasia-Focal Epilepsy Syndrome 28 CNTNAP2

Anatomical Context for Pitt-Hopkins-Like Syndrome 1

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

38
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 all 16)
# 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.2606T> C (p.Ile869Thr) single nucleotide variant risk factor rs121908445 GRCh37 Chromosome 7, 147844634: 147844634
3 CNTNAP2 NM_014141.5(CNTNAP2): c.(?_97)+117643_(1670_?)+6605del deletion Pathogenic NCBI36 Chromosome 7, 145562641: 146730410
4 CNTNAP2 NM_014141.5(CNTNAP2): c.1671-1G> T single nucleotide variant Pathogenic rs730880276 GRCh37 Chromosome 7, 147183026: 147183026
5 CNTNAP2 NM_014141.5(CNTNAP2): c.(?_550)+15275_(1349_?)-61303del deletion Pathogenic NCBI36 Chromosome 7, 146387354: 146566863
6 CNTNAP2 NM_014141.5(CNTNAP2): c.1447C> T (p.Arg483Ter) single nucleotide variant Pathogenic rs752550849 GRCh37 Chromosome 7, 146997331: 146997331
7 CNTNAP2 NM_014141.5(CNTNAP2): c.1480G> T (p.Glu494Ter) single nucleotide variant Pathogenic rs149032771 GRCh37 Chromosome 7, 146997364: 146997364
8 CNTNAP2 NC_000007.13: g.144520633_145949971del1429339 deletion Pathogenic GRCh37 Chromosome 7, 144520633: 145949971
9 CNTNAP2 NM_014141.5(CNTNAP2): c.3046C> T (p.Arg1016Ter) single nucleotide variant Pathogenic rs371642222 GRCh37 Chromosome 7, 147914415: 147914415
10 CNTNAP2 NG_007092.2: g.1180537_1293253del deletion Pathogenic GRCh37 Chromosome 7, 146988989: 147101705
11 CNTNAP2 NM_014141.5(CNTNAP2): c.2964delC (p.Cys989Alafs) deletion Pathogenic GRCh37 Chromosome 7, 147869524: 147869524
12 CNTNAP2 NM_014141.5(CNTNAP2): c.2046C> A (p.Cys682Ter) single nucleotide variant Pathogenic rs201076428 GRCh37 Chromosome 7, 147336346: 147336346
13 CNTNAP2 NC_000007.14: g.(?_147043887)_(147044074_?)del deletion Pathogenic GRCh37 Chromosome 7, 146740979: 146741166
14 CNTNAP2 NC_000007.14: g.(?_146116001)_(146116993_?)del deletion Pathogenic GRCh37 Chromosome 7, 145813093: 145814085
15 CNTNAP2 NM_014141.5(CNTNAP2): c.1689_1690delTG (p.Cys563Terfs) deletion Pathogenic GRCh38 Chromosome 7, 147485953: 147485954
16 CNTNAP2 NM_014141.5(CNTNAP2): c.3480_3481delAG (p.Gly1161Glufs) deletion Pathogenic rs771827120 GRCh38 Chromosome 7, 148383653: 148383654

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....