MCID: PTT014
MIFTS: 51

Pitt-Hopkins Syndrome

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

Aliases & Classifications for Pitt-Hopkins Syndrome

MalaCards integrated aliases for Pitt-Hopkins Syndrome:

Name: Pitt-Hopkins Syndrome 57 12 76 24 53 25 59 75 37 29 13 6 44 15 40 73
Pths 57 25 75
Intellectual Disability, Wide Mouth, Distinctive Facial Features, and Intermittent Hyperventilation Followed by Apnea 53
Mental Retardation, Syndromal, with Intermittent Hyperventilation 57
Mental Retardation Syndromal with Intermittent Hyperventilation 75
Encephalopathy, Severe Epileptic, with Autonomic Dysfunction 57
Encephalopathy Severe Epileptic with Autonomic Dysfunction 75
Pitt Hopkins Syndrome 53
Mesh; D006985 75
Mesh; D008607 75
Phs 25

Characteristics:

Orphanet epidemiological data:

59
pitt-hopkins syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
pitt-hopkins syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 53 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 pallister-hall syndrome, and has symptoms including constipation, seizures 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 seizures

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

OMIM : 57 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 : 75 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 : 76 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 97)
# Related Disease Score Top Affiliating Genes
1 syndromic intellectual disability 29.9 SLC9A6 TCF4
2 pallister-hall syndrome 11.9
3 hypoparathyroidism, familial isolated 11.6
4 pulmonary hypertension 11.5
5 pseudohypoparathyroidism, type ib 11.5
6 paroxysmal hemicrania 11.5
7 pitt-hopkins-like syndrome 1 11.4
8 pitt-hopkins-like syndrome 2 11.4
9 hyperparathyroidism 11.3
10 hypoparathyroidism 11.3
11 renal tubular acidosis, distal 11.3
12 chondrodysplasia, blomstrand type 11.2
13 hypocalcemia, autosomal dominant 1 11.2
14 primary hyperparathyroidism 11.2
15 leukemia, chronic myeloid 11.2
16 pseudohypoparathyroidism 11.2
17 hyperoxaluria, primary, type iii 11.1
18 renal osteodystrophy 11.1
19 metabolic acidosis 11.1
20 helicobacter pylori infection 11.1
21 lactic acidosis 11.1
22 parathyroid carcinoma 11.1
23 hyperphenylalaninemia, bh4-deficient, d 11.1
24 pseudohypoparathyroidism, type ii 11.0
25 pseudohypoparathyroidism, type ia 11.0
26 hyperparathyroidism, neonatal severe 11.0
27 hypomagnesemia 1, intestinal 11.0
28 acid sphingomyelinase deficiency 11.0
29 hyperparathyroidism 1 10.9
30 pseudohypoparathyroidism, type ic 10.9
31 pseudopseudohypoparathyroidism 10.9
32 gitelman syndrome 10.8
33 smith-lemli-opitz syndrome 10.8
34 bartter disease 10.8
35 hyperuricemia 10.8
36 basal ganglia calcification, idiopathic, childhood-onset 10.7
37 hypocalciuric hypercalcemia, familial, type i 10.7
38 metaphyseal chondrodysplasia, jansen type 10.7
39 bangstad syndrome 10.7
40 hypoparathyroidism-retardation-dysmorphism syndrome 10.7
41 hypophosphatemic rickets, x-linked dominant 10.7
42 hypocalciuric hypercalcemia, familial, type iii 10.7
43 albright's hereditary osteodystrophy 10.7
44 leukemia 10.4
45 alzheimer disease 10.4
46 lung cancer 10.4
47 gastroesophageal reflux 10.3
48 osteoporosis 10.3
49 schizophrenia 10.3
50 alacrima, achalasia, and mental retardation syndrome 10.3

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



Diseases related to Pitt-Hopkins Syndrome

Symptoms & Phenotypes for Pitt-Hopkins Syndrome

Symptoms via clinical synopsis from OMIM:

57
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
GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Pitt-Hopkins Syndrome:

59 32 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
6 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
7 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
8 sleep apnea 59 32 frequent (33%) Frequent (79-30%) HP:0010535
9 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
10 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
11 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
12 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
13 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
14 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
15 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
16 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
17 acrocyanosis 59 32 frequent (33%) Frequent (79-30%) HP:0001063
18 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
19 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
20 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
21 absent speech 59 32 frequent (33%) Frequent (79-30%) HP:0001344
22 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
23 postnatal growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008897
24 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
25 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
26 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
27 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
28 aphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002381
29 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
30 aganglionic megacolon 59 32 very rare (1%) Very rare (<4-1%) HP:0002251
31 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
32 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
33 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
34 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
35 small hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0200055
36 narrow foot 59 32 frequent (33%) Frequent (79-30%) HP:0001786
37 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
38 esophagitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100633
39 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
40 thickened helices 59 32 hallmark (90%) Very frequent (99-80%) HP:0000391
41 hiatus hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002036
42 tapered finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001182
43 aplasia/hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0007370
44 astigmatism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000483
45 micropenis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000054
46 autistic behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000729
47 finger clinodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0040019
48 misalignment of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000692
49 supernumerary nipple 59 32 occasional (7.5%) Occasional (29-5%) HP:0002558
50 single transverse palmar crease 59 32 hallmark (90%) Very frequent (99-80%) HP:0000954

UMLS symptoms related to Pitt-Hopkins Syndrome:


constipation, seizures, nasal flaring

MGI Mouse Phenotypes related to Pitt-Hopkins Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ASCL1 CDKL5 CHD6 CNTNAP2 FOXG1 NRXN1
2 nervous system MP:0003631 9.56 FOXG1 LARP7 NRXN1 SLC9A6 TCF4 ASCL1
3 taste/olfaction MP:0005394 8.92 ASCL1 CDKL5 CNTNAP2 FOXG1

Drugs & Therapeutics for Pitt-Hopkins Syndrome

Search Clinical Trials , 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 29 TCF4

Anatomical Context for Pitt-Hopkins Syndrome

MalaCards organs/tissues related to Pitt-Hopkins Syndrome:

41
Testes, Brain, Eye, Cortex, Skin

Publications for Pitt-Hopkins Syndrome

Articles related to Pitt-Hopkins Syndrome:

(show top 50) (show all 53)
# Title Authors Year
1
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. ( 29222403 )
2018
2
Low-Dose Aripiprazole and Risperidone for Treating Problem Behavior in Children With Pitt-Hopkins Syndrome. ( 29596149 )
2018
3
Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series. ( 29318938 )
2018
4
Catathrenia in Pitt-Hopkins syndrome associated with 18q interstitial deletion. ( 29633422 )
2018
5
A case of Pitt-hopkins Syndrome with de novo mutation in TCF4: Clinical features and treatment for epilepsy. ( 29604340 )
2018
6
WNT/I^-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4. ( 28879201 )
2017
7
Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome. ( 28251008 )
2017
8
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. ( 28807867 )
2017
9
An adapted walking intervention for a child with Pitt Hopkins syndrome(). ( 28125296 )
2017
10
Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome. ( 28032012 )
2016
11
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. ( 27132474 )
2016
12
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. ( 27072915 )
2016
13
A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes. ( 27864810 )
2016
14
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge. ( 27617128 )
2015
15
Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome. ( 25900839 )
2015
16
Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless. ( 26621827 )
2015
17
Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism. ( 27625870 )
2014
18
[Pitt-Hopkins syndrome - own experience on the base of two case reports and literature review with special emphasis on differential diagnosis]. ( 25182255 )
2014
19
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. ( 23640545 )
2013
20
A case of Pitt-Hopkins syndrome with absence of hyperventilation. ( 23248353 )
2013
21
263.4A kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. ( 23528641 )
2013
22
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. ( 22335494 )
2013
23
Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. ( 24383606 )
2013
24
Acetazolamide for severe apnea in Pitt-Hopkins syndrome. ( 22407847 )
2012
25
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. ( 22887345 )
2012
26
Pitt-Hopkins Syndrome ( 28520343 )
2012
27
Pitt-Hopkins Syndrome. ( 22670138 )
2012
28
Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. ( 22777675 )
2012
29
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. ( 22378662 )
2012
30
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
31
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. ( 22378661 )
2012
32
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. ( 22045651 )
2012
33
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. ( 22678594 )
2012
34
Development, cognition, and behaviour in Pitt-Hopkins syndrome. ( 22712893 )
2012
35
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. ( 21671383 )
2011
36
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. ( 22040220 )
2011
37
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. ( 21544580 )
2011
38
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. ( 21671391 )
2011
39
TCF4, schizophrenia, and Pitt-Hopkins Syndrome. ( 20421335 )
2010
40
Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. ( 20205897 )
2010
41
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. ( 19938247 )
2009
42
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. ( 19235238 )
2009
43
Hyperventilation and the Pitt-Hopkins syndrome. ( 18611190 )
2008
44
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. ( 18728071 )
2008
45
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. ( 18627065 )
2008
46
TCF4 deletions in Pitt-Hopkins Syndrome. ( 18781613 )
2008
47
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. ( 17478476 )
2007
48
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. ( 17436254 )
2007
49
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). ( 17436255 )
2007
50
Pitt-Hopkins syndrome in two patients and further definition of the phenotype. ( 16531728 )
2006

Variations for Pitt-Hopkins Syndrome

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

75 (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
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 346)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCF4 NM_001083962.1(TCF4): c.1738C> T (p.Arg580Trp) single nucleotide variant Pathogenic rs121909120 GRCh37 Chromosome 18, 52896219: 52896219
2 TCF4 NM_001083962.1(TCF4): c.1738C> T (p.Arg580Trp) single nucleotide variant Pathogenic rs121909120 GRCh38 Chromosome 18, 55228988: 55228988
3 TCF4 NM_001083962.1(TCF4): c.1739G> A (p.Arg580Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909121 GRCh37 Chromosome 18, 52896218: 52896218
4 TCF4 NM_001083962.1(TCF4): c.1739G> A (p.Arg580Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909121 GRCh38 Chromosome 18, 55228987: 55228987
5 TCF4 NM_001083962.1(TCF4): c.1153C> T (p.Arg385Ter) single nucleotide variant Pathogenic rs121909122 GRCh37 Chromosome 18, 52921925: 52921925
6 TCF4 NM_001083962.1(TCF4): c.1153C> T (p.Arg385Ter) single nucleotide variant Pathogenic rs121909122 GRCh38 Chromosome 18, 55254694: 55254694
7 TCF4 TCF4, IVS9AS, G-C, -1 single nucleotide variant Pathogenic
8 TCF4 NM_001083962.1(TCF4): c.1733G> C (p.Arg578Pro) single nucleotide variant Pathogenic rs121909123 GRCh37 Chromosome 18, 52896224: 52896224
9 TCF4 NM_001083962.1(TCF4): c.1733G> C (p.Arg578Pro) single nucleotide variant Pathogenic rs121909123 GRCh38 Chromosome 18, 55228993: 55228993
10 TCF4 TCF4, 1-BP DEL, 908C deletion Pathogenic
11 TCF4 NM_001083962.1(TCF4): c.1086G> A (p.Trp362Ter) single nucleotide variant Pathogenic rs398123560 GRCh37 Chromosome 18, 52924606: 52924606
12 TCF4 NM_001083962.1(TCF4): c.1086G> A (p.Trp362Ter) single nucleotide variant Pathogenic rs398123560 GRCh38 Chromosome 18, 55257375: 55257375
13 TCF4 NM_001083962.1(TCF4): c.1733G> A (p.Arg578His) single nucleotide variant Pathogenic rs121909123 GRCh37 Chromosome 18, 52896224: 52896224
14 TCF4 NM_001083962.1(TCF4): c.1733G> A (p.Arg578His) single nucleotide variant Pathogenic rs121909123 GRCh38 Chromosome 18, 55228993: 55228993
15 TCF4 NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs) deletion Pathogenic rs398123561 GRCh37 Chromosome 18, 53017622: 53017625
16 TCF4 NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs) deletion Pathogenic rs398123561 GRCh38 Chromosome 18, 55350391: 55350394
17 TCF4 NM_001083962.1(TCF4): c.1840G> C (p.Ala614Pro) single nucleotide variant Likely pathogenic rs587784462 GRCh37 Chromosome 18, 52896117: 52896117
18 TCF4 NM_001083962.1(TCF4): c.1840G> C (p.Ala614Pro) single nucleotide variant Likely pathogenic rs587784462 GRCh38 Chromosome 18, 55228886: 55228886
19 TCF4 NM_001083962.1(TCF4): c.1777_1779delCGC (p.Arg593del) deletion Uncertain significance rs587784461 GRCh37 Chromosome 18, 52896178: 52896180
20 TCF4 NM_001083962.1(TCF4): c.1777_1779delCGC (p.Arg593del) deletion Uncertain significance rs587784461 GRCh38 Chromosome 18, 55228947: 55228949
21 TCF4 NM_001083962.1(TCF4): c.1741G> T (p.Val581Phe) single nucleotide variant Likely pathogenic rs587784460 GRCh37 Chromosome 18, 52896216: 52896216
22 TCF4 NM_001083962.1(TCF4): c.1741G> T (p.Val581Phe) single nucleotide variant Likely pathogenic rs587784460 GRCh38 Chromosome 18, 55228985: 55228985
23 TCF4 NM_001083962.1(TCF4): c.1498G> T (p.Gly500Ter) single nucleotide variant Pathogenic rs587784459 GRCh37 Chromosome 18, 52899891: 52899891
24 TCF4 NM_001083962.1(TCF4): c.1498G> T (p.Gly500Ter) single nucleotide variant Pathogenic rs587784459 GRCh38 Chromosome 18, 55232660: 55232660
25 TCF4 NM_001083962.1(TCF4): c.1350G> A (p.Met450Ile) single nucleotide variant Uncertain significance rs11660217 GRCh37 Chromosome 18, 52921728: 52921728
26 TCF4 NM_001083962.1(TCF4): c.1350G> A (p.Met450Ile) single nucleotide variant Uncertain significance rs11660217 GRCh38 Chromosome 18, 55254497: 55254497
27 TCF4 NM_001083962.1(TCF4): c.1146+1G> A single nucleotide variant Pathogenic rs587784458 GRCh37 Chromosome 18, 52924545: 52924545
28 TCF4 NM_001083962.1(TCF4): c.1146+1G> A single nucleotide variant Pathogenic rs587784458 GRCh38 Chromosome 18, 55257314: 55257314
29 TCF4 NM_001083962.1(TCF4): c.991-2A> G single nucleotide variant Pathogenic rs587784470 GRCh37 Chromosome 18, 52927260: 52927260
30 TCF4 NM_001083962.1(TCF4): c.991-2A> G single nucleotide variant Pathogenic rs587784470 GRCh38 Chromosome 18, 55260029: 55260029
31 TCF4 NM_001083962.1(TCF4): c.990G> A (p.Ser330=) single nucleotide variant Pathogenic/Likely pathogenic rs587784469 GRCh37 Chromosome 18, 52928697: 52928697
32 TCF4 NM_001083962.1(TCF4): c.990G> A (p.Ser330=) single nucleotide variant Pathogenic/Likely pathogenic rs587784469 GRCh38 Chromosome 18, 55261466: 55261466
33 TCF4 NM_001083962.1(TCF4): c.944C> T (p.Ala315Val) single nucleotide variant Benign/Likely benign rs147445499 GRCh37 Chromosome 18, 52928743: 52928743
34 TCF4 NM_001083962.1(TCF4): c.944C> T (p.Ala315Val) single nucleotide variant Benign/Likely benign rs147445499 GRCh38 Chromosome 18, 55261512: 55261512
35 TCF4 NM_001083962.1(TCF4): c.791delG (p.Ser264Thrfs) deletion Pathogenic rs587784468 GRCh37 Chromosome 18, 52937193: 52937193
36 TCF4 NM_001083962.1(TCF4): c.791delG (p.Ser264Thrfs) deletion Pathogenic rs587784468 GRCh38 Chromosome 18, 55269962: 55269962
37 TCF4 NM_001083962.1(TCF4): c.656-1G> C single nucleotide variant Pathogenic rs587784466 GRCh37 Chromosome 18, 52942984: 52942984
38 TCF4 NM_001083962.1(TCF4): c.656-1G> C single nucleotide variant Pathogenic rs587784466 GRCh38 Chromosome 18, 55275753: 55275753
39 TCF4 NM_001083962.1(TCF4): c.655+1G> A single nucleotide variant Pathogenic rs587784465 GRCh37 Chromosome 18, 52946781: 52946781
40 TCF4 NM_001083962.1(TCF4): c.655+1G> A single nucleotide variant Pathogenic rs587784465 GRCh38 Chromosome 18, 55279550: 55279550
41 TCF4 NM_001083962.1(TCF4): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs587784464 GRCh37 Chromosome 18, 53018135: 53018135
42 TCF4 NM_001083962.1(TCF4): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs587784464 GRCh38 Chromosome 18, 55350904: 55350904
43 TCF4 NM_001083962.1(TCF4): c.415delC (p.Leu139Phefs) deletion Pathogenic rs587784463 GRCh37 Chromosome 18, 53018189: 53018189
44 TCF4 NM_001083962.1(TCF4): c.415delC (p.Leu139Phefs) deletion Pathogenic rs587784463 GRCh38 Chromosome 18, 55350958: 55350958
45 TCF4 NM_001083962.1(TCF4): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs727504175 GRCh37 Chromosome 18, 52942891: 52942891
46 TCF4 NM_001083962.1(TCF4): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs727504175 GRCh38 Chromosome 18, 55275660: 55275660
47 TCF4 NM_001083962.1(TCF4): c.269A> G (p.Asn90Ser) single nucleotide variant Benign/Likely benign rs143244149 GRCh37 Chromosome 18, 53128285: 53128285
48 TCF4 NM_001083962.1(TCF4): c.269A> G (p.Asn90Ser) single nucleotide variant Benign/Likely benign rs143244149 GRCh38 Chromosome 18, 55461054: 55461054
49 TCF4 NM_001083962.1(TCF4): c.1414delG (p.Val472Phefs) deletion Pathogenic rs727504174 GRCh37 Chromosome 18, 52901851: 52901851
50 TCF4 NM_001083962.1(TCF4): c.1414delG (p.Val472Phefs) deletion Pathogenic rs727504174 GRCh38 Chromosome 18, 55234620: 55234620

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:

37
# 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neuron projection morphogenesis GO:0048812 9.51 CNTNAP2 SLC9A6
2 neurogenesis GO:0022008 9.49 ASCL1 FOXG1
3 learning GO:0007612 9.48 CNTNAP2 NRXN1
4 negative regulation of neuron differentiation GO:0045665 9.46 ASCL1 FOXG1
5 social behavior GO:0035176 9.43 CNTNAP2 NRXN1
6 positive regulation of cell cycle GO:0045787 9.4 ASCL1 FOXG1
7 adult behavior GO:0030534 9.37 CNTNAP2 NRXN1
8 positive regulation of neuron differentiation GO:0045666 9.33 ASCL1 FOXG1 TCF4
9 central nervous system neuron development GO:0021954 9.32 ASCL1 FOXG1
10 vocalization behavior GO:0071625 9.26 CNTNAP2 NRXN1
11 vocal learning GO:0042297 8.96 CNTNAP2 NRXN1
12 cerebral cortex development GO:0021987 8.8 ASCL1 CNTNAP2 FOXG1

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 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
Content
Loading form....