PTHS
MCID: PTT014
MIFTS: 54

Pitt-Hopkins Syndrome (PTHS)

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

Aliases & Classifications for Pitt-Hopkins Syndrome

MalaCards integrated aliases for Pitt-Hopkins Syndrome:

Name: Pitt-Hopkins Syndrome 58 12 77 25 54 26 60 76 38 30 13 6 45 15 41 74
Pths 58 26 76
Intellectual Disability, Wide Mouth, Distinctive Facial Features, and Intermittent Hyperventilation Followed by Apnea 54
Mental Retardation, Syndromal, with Intermittent Hyperventilation 58
Mental Retardation Syndromal with Intermittent Hyperventilation 76
Encephalopathy, Severe Epileptic, with Autonomic Dysfunction 58
Encephalopathy Severe Epileptic with Autonomic Dysfunction 76
Pitt Hopkins Syndrome 54
Mesh; D006985 76
Mesh; D008607 76
Phs 26

Characteristics:

Orphanet epidemiological data:

60
pitt-hopkins syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
pitt-hopkins syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance of a pathogenic tcf4 allele is complete, though some phenotypic variability is seen among sibs born to a presumably mosaic parent...

Classifications:



Summaries for Pitt-Hopkins Syndrome

NIH Rare Diseases : 54 Pitt-Hopkins syndrome (PTHS) is a genetic syndrome that causes developmental delays, moderate to severe intellectual disability, behavioral differences, distinctive facial features, and breathing problems such as episodes of rapid breathing (hyperventilation) and breath-holding. Other features may include symptoms of autism spectrum disorder, sleep disturbances, seizures, constipation, nearsightedness, and minor skeletal abnormalities. PTHS is caused by a mutation in the TCF4 gene, or by a loss (deletion) of the part of chromosome 18 that contains the TCF4 gene. Inheritance is autosomal dominant, but PTHS typically is not inherited from a parent, occurring sporadically due to a new mutation in people with no family history of PTHS. The diagnosis may be suspected based on signs and symptoms and can be confirmed with genetic testing. There is no cure for PTHS, but there are ways to manage or improve many of the signs and symptoms. Management may include early intervention services for infants and young children, an individualized education plan for school-aged children, behavioral therapy, and routine treatment of seizures, nearsightedness, constipation, and skeletal abnormalities.

MalaCards based summary : Pitt-Hopkins Syndrome, also known as pths, is related to syndromic intellectual disability and autism, and has symptoms including seizures, constipation and nasal flaring. An important gene associated with Pitt-Hopkins Syndrome is TCF4 (Transcription Factor 4), and among its related pathways/superpathways is Cell adhesion molecules (CAMs). Affiliated tissues include testes, brain and eye, and related phenotypes are short neck and muscular hypotonia

Disease Ontology : 12 A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It has material basis in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.

Genetics Home Reference : 26 Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.

OMIM : 58 The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea (Zweier et al., 2007). See also Pitt-Hopkins-like syndrome-1 (610042), caused by mutation in the CNTNAP2 gene (604569) on chromosome 7q35, and Pitt-Hopkins-like syndrome-2 (600565), caused by mutation in the NRXN1 gene (600565) on chromosome 2p16.3. (610954)

UniProtKB/Swiss-Prot : 76 Pitt-Hopkins syndrome: A syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities.

Wikipedia : 77 Pitt–Hopkins syndrome is a rare genetic disorder characterized by developmental delay, epilepsy,... more...

GeneReviews: NBK100240

Related Diseases for Pitt-Hopkins 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 Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 752)
# Related Disease Score Top Affiliating Genes
1 syndromic intellectual disability 30.1 SLC9A6 TCF4
2 autism 28.7 CDKL5 CNTNAP2 NRXN1
3 pallister-hall syndrome 12.1
4 hypoparathyroidism, familial isolated 11.8
5 pulmonary hypertension 11.7
6 pseudohypoparathyroidism, type ib 11.7
7 paroxysmal hemicrania 11.7
8 pitt-hopkins-like syndrome 1 11.6
9 pitt-hopkins-like syndrome 2 11.6
10 hyperparathyroidism 11.5
11 hypoparathyroidism 11.5
12 primary hyperparathyroidism 11.4
13 chondrodysplasia, blomstrand type 11.4
14 hypocalcemia, autosomal dominant 1 11.4
15 secondary hyperparathyroidism 11.4
16 leukemia, chronic myeloid 11.4
17 metabolic acidosis 11.3
18 hyperoxaluria, primary, type iii 11.3
19 lactic acidosis 11.3
20 helicobacter pylori infection 11.3
21 renal tubular acidosis, distal 11.3
22 bartter disease 11.3
23 parathyroid carcinoma 11.3
24 hyperphenylalaninemia, bh4-deficient, d 11.2
25 pseudohypoparathyroidism, type ii 11.2
26 pseudohypoparathyroidism, type ia 11.1
27 hyperparathyroidism, neonatal severe 11.1
28 hypomagnesemia 1, intestinal 11.1
29 acid sphingomyelinase deficiency 11.1
30 hyperparathyroidism 1 11.1
31 pseudohypoparathyroidism, type ic 11.1
32 pseudopseudohypoparathyroidism 11.1
33 renal tubular acidosis, distal, autosomal dominant 11.0
34 gitelman syndrome 11.0
35 smith-lemli-opitz syndrome 11.0
36 cardiovascular system disease 11.0
37 urinary system disease 11.0
38 hyperuricemia 11.0
39 basal ganglia calcification, idiopathic, childhood-onset 10.9
40 hypocalciuric hypercalcemia, familial, type i 10.9
41 metaphyseal chondrodysplasia, jansen type 10.9
42 bangstad syndrome 10.9
43 hypoparathyroidism-retardation-dysmorphism syndrome 10.9
44 hypophosphatemic rickets, x-linked dominant 10.9
45 hypocalciuric hypercalcemia, familial, type iii 10.9
46 hyperparathyroidism, transient neonatal 10.9
47 vertebral anomalies and variable endocrine and t-cell dysfunction 10.9
48 albright's hereditary osteodystrophy 10.9
49 leukemia 10.7
50 gastroesophageal reflux 10.6

Graphical network of the top 20 diseases related to Pitt-Hopkins Syndrome:



Diseases related to Pitt-Hopkins Syndrome

Symptoms & Phenotypes for Pitt-Hopkins Syndrome

Human phenotypes related to Pitt-Hopkins Syndrome:

60 33 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
4 constipation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002019
5 dysphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002357
6 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
7 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
8 pes planus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001763
9 thick vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0012471
10 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
11 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
12 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
13 full cheeks 60 33 hallmark (90%) Very frequent (99-80%) HP:0000293
14 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
15 specific learning disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001328
16 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
17 aphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002381
18 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
19 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
20 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
21 short philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000322
22 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
23 small hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0200055
24 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
25 esophagitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100633
26 thickened helices 60 33 hallmark (90%) Very frequent (99-80%) HP:0000391
27 hiatus hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002036
28 tapered finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0001182
29 astigmatism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000483
30 finger clinodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0040019
31 misalignment of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000692
32 single transverse palmar crease 60 33 hallmark (90%) Very frequent (99-80%) HP:0000954
33 pes valgus 60 33 hallmark (90%) Very frequent (99-80%) HP:0008081
34 echolalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010529
35 short metatarsal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010743
36 mutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002300
37 failure of eruption of permanent teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0006352
38 narrow forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000341
39 broad fingertip 60 33 hallmark (90%) Very frequent (99-80%) HP:0011300
40 overhanging nasal tip 60 33 hallmark (90%) Very frequent (99-80%) HP:0011833
41 abnormal palate morphology 33 hallmark (90%) HP:0000174
42 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
43 sleep apnea 60 33 frequent (33%) Frequent (79-30%) HP:0010535
44 acrocyanosis 60 33 frequent (33%) Frequent (79-30%) HP:0001063
45 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
46 absent speech 60 33 frequent (33%) Frequent (79-30%) HP:0001344
47 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
48 narrow foot 60 33 frequent (33%) Frequent (79-30%) HP:0001786
49 aplasia/hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0007370
50 triangular nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0000451

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Neurologic Central Nervous System:
seizures
incoordination
hypotonia
delayed motor development
mental retardation, severe
more
Head And Neck Teeth:
widely spaced teeth

Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
myopia
astigmatism
deep-set eyes
upslanting palpebral fissures

Respiratory:
hyperventilation
abnormal breathing patterns
intermittent breathing

Muscle Soft Tissue:
hypotonia

Genitourinary External Genitalia Male:
small penis

Head And Neck Mouth:
wide open mouth
cupid's bow upper lip
thick, fleshy lips

Skeletal Hands:
clinodactyly
simian crease
tapered fingers
small, slender palms
clubbing of the fingers
more
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

Skeletal Feet:
pes planus
pes valgus
slender feet
fetal pads

Head And Neck Face:
full cheeks
short philtrum
square forehead
coarse face
bitemporal narrowing
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
broad nasal bridge
beaked nasal bridge
downturned, pointed nasal tip
flaring nostrils

Head And Neck Ears:
cup-shaped ears
fleshy ears

Neurologic Behavioral Psychiatric Manifestations:
aggression
happy personality
sterotypical movements

Clinical features from OMIM:

610954

UMLS symptoms related to Pitt-Hopkins Syndrome:


seizures, constipation, nasal flaring

MGI Mouse Phenotypes related to Pitt-Hopkins Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 ASCL1 CDKL5 CHD6 CNTNAP2 FOXG1 NRXN1
2 nervous system MP:0003631 9.56 ASCL1 CDKL5 CNTNAP2 FOXG1 LARP7 NRXN1
3 taste/olfaction MP:0005394 8.92 ASCL1 CDKL5 CNTNAP2 FOXG1

Drugs & Therapeutics for Pitt-Hopkins Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Pitt-Hopkins Syndrome

Cochrane evidence based reviews: pitt-hopkins syndrome

Genetic Tests for Pitt-Hopkins Syndrome

Genetic tests related to Pitt-Hopkins Syndrome:

# Genetic test Affiliating Genes
1 Pitt-Hopkins Syndrome 30 TCF4

Anatomical Context for Pitt-Hopkins Syndrome

MalaCards organs/tissues related to Pitt-Hopkins Syndrome:

42
Testes, Brain, Eye, Cortex, Skin

Publications for Pitt-Hopkins Syndrome

Articles related to Pitt-Hopkins Syndrome:

(show top 50) (show all 57)
# Title Authors Year
1
Diagnosis and Management in Pitt-Hopkins Syndrome: First International Consensus Statement. ( 30677142 )
2019
2
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. ( 29222403 )
2018
3
Low-Dose Aripiprazole and Risperidone for Treating Problem Behavior in Children With Pitt-Hopkins Syndrome. ( 29596149 )
2018
4
Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series. ( 29318938 )
2018
5
Catathrenia in Pitt-Hopkins syndrome associated with 18q interstitial deletion. ( 29633422 )
2018
6
A case of Pitt-hopkins Syndrome with de novo mutation in TCF4: Clinical features and treatment for epilepsy. ( 29604340 )
2018
7
Pitt-Hopkins Syndrome: A Unique Case Study. ( 30375316 )
2018
8
WNT/I^-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4. ( 28879201 )
2017
9
Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome. ( 28251008 )
2017
10
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. ( 28807867 )
2017
11
An adapted walking intervention for a child with Pitt Hopkins syndrome(). ( 28125296 )
2017
12
Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome. ( 30775158 )
2017
13
Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome. ( 28032012 )
2016
14
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. ( 27132474 )
2016
15
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. ( 27072915 )
2016
16
A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes. ( 27864810 )
2016
17
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge. ( 27617128 )
2015
18
Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome. ( 25900839 )
2015
19
Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless. ( 26621827 )
2015
20
Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism. ( 27625870 )
2014
21
[Pitt-Hopkins syndrome - own experience on the base of two case reports and literature review with special emphasis on differential diagnosis]. ( 25182255 )
2014
22
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. ( 23640545 )
2013
23
A case of Pitt-Hopkins syndrome with absence of hyperventilation. ( 23248353 )
2013
24
263.4A kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. ( 23528641 )
2013
25
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. ( 22335494 )
2013
26
Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. ( 24383606 )
2013
27
Acetazolamide for severe apnea in Pitt-Hopkins syndrome. ( 22407847 )
2012
28
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. ( 22887345 )
2012
29
Pitt-Hopkins Syndrome ( 28520343 )
2012
30
Pitt-Hopkins Syndrome. ( 22670138 )
2012
31
Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. ( 22777675 )
2012
32
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. ( 22378662 )
2012
33
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects. ( 22460224 )
2012
34
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. ( 22378661 )
2012
35
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. ( 22045651 )
2012
36
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. ( 22678594 )
2012
37
Development, cognition, and behaviour in Pitt-Hopkins syndrome. ( 22712893 )
2012
38
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. ( 21671383 )
2011
39
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. ( 22040220 )
2011
40
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. ( 21544580 )
2011
41
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. ( 21671391 )
2011
42
TCF4, schizophrenia, and Pitt-Hopkins Syndrome. ( 20421335 )
2010
43
Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. ( 20205897 )
2010
44
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. ( 19938247 )
2009
45
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. ( 19235238 )
2009
46
Hyperventilation and the Pitt-Hopkins syndrome. ( 18611190 )
2008
47
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. ( 18728071 )
2008
48
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. ( 18627065 )
2008
49
TCF4 deletions in Pitt-Hopkins Syndrome. ( 18781613 )
2008
50
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. ( 17478476 )
2007

Variations for Pitt-Hopkins Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Pitt-Hopkins Syndrome:

76 (show all 13)
# Symbol AA change Variation ID SNP ID
1 TCF4 p.Arg576Gln VAR_034704 rs121909121
2 TCF4 p.Arg576Trp VAR_034705 rs121909120
3 TCF4 p.Asp535Gly VAR_058632
4 TCF4 p.Arg572Gly VAR_058633
5 TCF4 p.Ala610Val VAR_058634
6 TCF4 p.Gly358Val VAR_066839
7 TCF4 p.Arg574Pro VAR_066840 rs121909123
8 TCF4 p.Arg578His VAR_066841
9 TCF4 p.Arg565Trp VAR_066970
10 TCF4 p.Arg572Gln VAR_066971 rs105752107
11 TCF4 p.Arg574His VAR_066972 rs121909123
12 TCF4 p.Arg578Pro VAR_066973
13 TCF4 p.Ala583Pro VAR_066974

ClinVar genetic disease variations for Pitt-Hopkins Syndrome:

6 (show top 50) (show all 418)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCF4 NM_001083962.1(TCF4): c.1840G> C (p.Ala614Pro) single nucleotide variant Likely pathogenic rs587784462 GRCh37 Chromosome 18, 52896117: 52896117
2 TCF4 NM_001083962.1(TCF4): c.1840G> C (p.Ala614Pro) single nucleotide variant Likely pathogenic rs587784462 GRCh38 Chromosome 18, 55228886: 55228886
3 TCF4 NM_001083962.1(TCF4): c.1777_1779del (p.Arg593del) deletion Uncertain significance rs587784461 GRCh37 Chromosome 18, 52896178: 52896180
4 TCF4 NM_001083962.1(TCF4): c.1777_1779del (p.Arg593del) deletion Uncertain significance rs587784461 GRCh38 Chromosome 18, 55228947: 55228949
5 TCF4 NM_001083962.1(TCF4): c.1741G> T (p.Val581Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs587784460 GRCh37 Chromosome 18, 52896216: 52896216
6 TCF4 NM_001083962.1(TCF4): c.1741G> T (p.Val581Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs587784460 GRCh38 Chromosome 18, 55228985: 55228985
7 TCF4 NM_001083962.1(TCF4): c.1498G> T (p.Gly500Ter) single nucleotide variant Pathogenic rs587784459 GRCh37 Chromosome 18, 52899891: 52899891
8 TCF4 NM_001083962.1(TCF4): c.1498G> T (p.Gly500Ter) single nucleotide variant Pathogenic rs587784459 GRCh38 Chromosome 18, 55232660: 55232660
9 TCF4 NM_001083962.1(TCF4): c.1350G> A (p.Met450Ile) single nucleotide variant Uncertain significance rs11660217 GRCh37 Chromosome 18, 52921728: 52921728
10 TCF4 NM_001083962.1(TCF4): c.1350G> A (p.Met450Ile) single nucleotide variant Uncertain significance rs11660217 GRCh38 Chromosome 18, 55254497: 55254497
11 TCF4 NM_001083962.1(TCF4): c.1146+1G> A single nucleotide variant Pathogenic rs587784458 GRCh37 Chromosome 18, 52924545: 52924545
12 TCF4 NM_001083962.1(TCF4): c.1146+1G> A single nucleotide variant Pathogenic rs587784458 GRCh38 Chromosome 18, 55257314: 55257314
13 TCF4 NM_001083962.1(TCF4): c.991-2A> G single nucleotide variant Pathogenic rs587784470 GRCh37 Chromosome 18, 52927260: 52927260
14 TCF4 NM_001083962.1(TCF4): c.991-2A> G single nucleotide variant Pathogenic rs587784470 GRCh38 Chromosome 18, 55260029: 55260029
15 TCF4 NM_001083962.1(TCF4): c.990G> A (p.Ser330=) single nucleotide variant Pathogenic/Likely pathogenic rs587784469 GRCh37 Chromosome 18, 52928697: 52928697
16 TCF4 NM_001083962.1(TCF4): c.990G> A (p.Ser330=) single nucleotide variant Pathogenic/Likely pathogenic rs587784469 GRCh38 Chromosome 18, 55261466: 55261466
17 TCF4 NM_001083962.1(TCF4): c.944C> T (p.Ala315Val) single nucleotide variant Benign/Likely benign rs147445499 GRCh37 Chromosome 18, 52928743: 52928743
18 TCF4 NM_001083962.1(TCF4): c.944C> T (p.Ala315Val) single nucleotide variant Benign/Likely benign rs147445499 GRCh38 Chromosome 18, 55261512: 55261512
19 TCF4 NM_001083962.1(TCF4): c.791del (p.Ser264Thrfs) deletion Pathogenic rs587784468 GRCh37 Chromosome 18, 52937193: 52937193
20 TCF4 NM_001083962.1(TCF4): c.791del (p.Ser264Thrfs) deletion Pathogenic rs587784468 GRCh38 Chromosome 18, 55269962: 55269962
21 TCF4 NM_001083962.1(TCF4): c.656-1G> C single nucleotide variant Pathogenic rs587784466 GRCh37 Chromosome 18, 52942984: 52942984
22 TCF4 NM_001083962.1(TCF4): c.656-1G> C single nucleotide variant Pathogenic rs587784466 GRCh38 Chromosome 18, 55275753: 55275753
23 TCF4 NM_001083962.1(TCF4): c.655+1G> A single nucleotide variant Pathogenic rs587784465 GRCh37 Chromosome 18, 52946781: 52946781
24 TCF4 NM_001083962.1(TCF4): c.655+1G> A single nucleotide variant Pathogenic rs587784465 GRCh38 Chromosome 18, 55279550: 55279550
25 TCF4 NM_001083962.1(TCF4): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs587784464 GRCh37 Chromosome 18, 53018135: 53018135
26 TCF4 NM_001083962.1(TCF4): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs587784464 GRCh38 Chromosome 18, 55350904: 55350904
27 TCF4 NM_001083962.1(TCF4): c.415del (p.Leu139Phefs) deletion Pathogenic rs587784463 GRCh37 Chromosome 18, 53018189: 53018189
28 TCF4 NM_001083962.1(TCF4): c.415del (p.Leu139Phefs) deletion Pathogenic rs587784463 GRCh38 Chromosome 18, 55350958: 55350958
29 TCF4 NM_001083962.1(TCF4): c.269A> G (p.Asn90Ser) single nucleotide variant Benign/Likely benign rs143244149 GRCh37 Chromosome 18, 53128285: 53128285
30 TCF4 NM_001083962.1(TCF4): c.269A> G (p.Asn90Ser) single nucleotide variant Benign/Likely benign rs143244149 GRCh38 Chromosome 18, 55461054: 55461054
31 TCF4 NM_001083962.1(TCF4): c.1357dupA (p.Thr453Asnfs) duplication Pathogenic rs786200992 GRCh37 Chromosome 18, 52901908: 52901908
32 TCF4 NM_001083962.1(TCF4): c.1357dupA (p.Thr453Asnfs) duplication Pathogenic rs786200992 GRCh38 Chromosome 18, 55234677: 55234677
33 TCF4 NM_001083962.1(TCF4): c.1438C> T (p.Gln480Ter) single nucleotide variant Pathogenic rs727505396 GRCh38 Chromosome 18, 55234596: 55234596
34 TCF4 NM_001083962.1(TCF4): c.1438C> T (p.Gln480Ter) single nucleotide variant Pathogenic rs727505396 GRCh37 Chromosome 18, 52901827: 52901827
35 TCF4 NM_001083962.1(TCF4): c.*22G> A single nucleotide variant Benign/Likely benign rs182372608 GRCh37 Chromosome 18, 52895244: 52895244
36 TCF4 NM_001083962.1(TCF4): c.*22G> A single nucleotide variant Benign/Likely benign rs182372608 GRCh38 Chromosome 18, 55228013: 55228013
37 TCF4 NM_001083962.1(TCF4): c.1570C> T (p.Gln524Ter) single nucleotide variant Pathogenic rs796053418 GRCh37 Chromosome 18, 52899819: 52899819
38 TCF4 NM_001083962.1(TCF4): c.1570C> T (p.Gln524Ter) single nucleotide variant Pathogenic rs796053418 GRCh38 Chromosome 18, 55232588: 55232588
39 TCF4 NM_001083962.1(TCF4): c.790-6C> A single nucleotide variant Likely benign rs553688184 GRCh38 Chromosome 18, 55269969: 55269969
40 TCF4 NM_001083962.1(TCF4): c.790-6C> A single nucleotide variant Likely benign rs553688184 GRCh37 Chromosome 18, 52937200: 52937200
41 TCF4 NM_001083962.1(TCF4): c.305G> A (p.Ser102Asn) single nucleotide variant Uncertain significance rs796053413 GRCh37 Chromosome 18, 53070749: 53070749
42 TCF4 NM_001083962.1(TCF4): c.305G> A (p.Ser102Asn) single nucleotide variant Uncertain significance rs796053413 GRCh38 Chromosome 18, 55403518: 55403518
43 TCF4 NM_001083962.1(TCF4): c.968C> T (p.Ala323Val) single nucleotide variant Pathogenic rs797045003 GRCh38 Chromosome 18, 55261488: 55261488
44 TCF4 NM_001083962.1(TCF4): c.968C> T (p.Ala323Val) single nucleotide variant Pathogenic rs797045003 GRCh37 Chromosome 18, 52928719: 52928719
45 TCF4 NM_001083962.1(TCF4): c.1069+1G> T single nucleotide variant Pathogenic rs797045072 GRCh37 Chromosome 18, 52927179: 52927179
46 TCF4 NM_001083962.1(TCF4): c.1069+1G> T single nucleotide variant Pathogenic rs797045072 GRCh38 Chromosome 18, 55259948: 55259948
47 TCF4 NM_001083962.1(TCF4): c.1965dupC (p.Gly656Argfs) duplication Pathogenic/Likely pathogenic rs797046035 GRCh37 Chromosome 18, 52895507: 52895507
48 TCF4 NM_001083962.1(TCF4): c.1965dupC (p.Gly656Argfs) duplication Pathogenic/Likely pathogenic rs797046035 GRCh38 Chromosome 18, 55228276: 55228276
49 TCF4 NM_001083962.1(TCF4): c.1871A> C (p.Gln624Pro) single nucleotide variant Likely pathogenic rs797046034 GRCh37 Chromosome 18, 52896086: 52896086
50 TCF4 NM_001083962.1(TCF4): c.1871A> C (p.Gln624Pro) single nucleotide variant Likely pathogenic rs797046034 GRCh38 Chromosome 18, 55228855: 55228855

Copy number variations for Pitt-Hopkins Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 122008 18 51108121 51312629 Deletion TCF4 Pitt-Hopkins syndrome

Expression for Pitt-Hopkins Syndrome

Search GEO for disease gene expression data for Pitt-Hopkins Syndrome.

Pathways for Pitt-Hopkins Syndrome

Pathways related to Pitt-Hopkins Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Cell adhesion molecules (CAMs) hsa04514

GO Terms for Pitt-Hopkins Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.8 ASCL1 CNTNAP2 NRXN1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of neuron differentiation GO:0045666 9.43 ASCL1 TCF4
2 cerebral cortex development GO:0021987 9.4 ASCL1 CNTNAP2
3 neuron projection morphogenesis GO:0048812 9.37 CNTNAP2 SLC9A6
4 learning GO:0007612 9.32 CNTNAP2 NRXN1
5 social behavior GO:0035176 9.26 CNTNAP2 NRXN1
6 adult behavior GO:0030534 9.16 CNTNAP2 NRXN1
7 vocalization behavior GO:0071625 8.96 CNTNAP2 NRXN1
8 vocal learning GO:0042297 8.62 CNTNAP2 NRXN1

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

# Name GO ID Score Top Affiliating Genes
1 E-box binding GO:0070888 8.96 ASCL1 TCF4
2 bHLH transcription factor binding GO:0043425 8.62 ASCL1 TCF4

Sources for Pitt-Hopkins Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....