MCID: PTT014
MIFTS: 52

Pitt-Hopkins Syndrome

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

Aliases & Classifications for Pitt-Hopkins Syndrome

MalaCards integrated aliases for Pitt-Hopkins Syndrome:

Name: Pitt-Hopkins Syndrome 53 12 72 23 49 24 55 71 36 28 13 41 14 69
Pths 53 24 71
Intellectual Disability, Wide Mouth, Distinctive Facial Features, and Intermittent Hyperventilation Followed by Apnea 49
Mental Retardation, Syndromal, with Intermittent Hyperventilation 53
Mental Retardation Syndromal with Intermittent Hyperventilation 71
Encephalopathy, Severe Epileptic, with Autonomic Dysfunction 53
Encephalopathy Severe Epileptic with Autonomic Dysfunction 71
Pitt Hopkins Syndrome 49
Mesh; D006985 71
Mesh; D008607 71
Phs 24

Characteristics:

Orphanet epidemiological data:

55
pitt-hopkins syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
pitt-hopkins syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pitt-Hopkins Syndrome

NIH Rare Diseases : 49 Pitt-Hopkins syndrome is a genetic condition characterized by intellectual disability and developmental delay, recurrent seizures (epilepsy), distinctive facial features, and breathing problems (i.e., periodic hyperventilation followed by apnea). This condition is caused by mutations in the TCF4 transcription factor gene. Pitt-Hopkins syndrome is inherited in an autosomal dominant pattern. Most cases, however, result from a new (de novo) mutation and occur on people with no history of the condition in their family. Treatment involves addressing the individual problems seen in each patient, and may include early intervention services, special education, and routine management of medicals concerns like seizures and myopia. Last updated: 1/4/2016

MalaCards based summary : Pitt-Hopkins Syndrome, also known as pths, is related to pallister-hall syndrome and hypoparathyroidism, familial isolated, and has symptoms including ataxia, constipation and seizures. An important gene associated with Pitt-Hopkins Syndrome is TCF4 (Transcription Factor 4), and among its related pathways/superpathways are Cell adhesion molecules (CAMs) and Neural Crest Differentiation. Affiliated tissues include brain, eye and cortex, and related phenotypes are behavior/neurological and nervous system

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.

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.

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 131)
# Related Disease Score Top Affiliating Genes
1 pallister-hall syndrome 11.9
2 hypoparathyroidism, familial isolated 11.6
3 pseudohypoparathyroidism, type ib 11.5
4 pulmonary hypertension 11.5
5 paroxysmal hemicrania 11.5
6 pitt-hopkins-like syndrome 1 11.5
7 pitt-hopkins-like syndrome 2 11.5
8 hyperparathyroidism 11.3
9 hypoparathyroidism 11.3
10 lactic acidosis 11.3
11 chondrodysplasia, blomstrand type 11.2
12 hypocalcemia, autosomal dominant 1 11.2
13 primary hyperparathyroidism 11.2
14 leukemia, chronic myeloid 11.2
15 pseudohypoparathyroidism 11.2
16 renal osteodystrophy 11.2
17 hyperoxaluria, primary, type iii 11.2
18 pseudohypoparathyroidism, type ia 11.0
19 hyperparathyroidism, neonatal severe 11.0
20 hypomagnesemia 1, intestinal 11.0
21 hyperparathyroidism 1 10.9
22 pseudohypoparathyroidism, type ii 10.9
23 pseudohypoparathyroidism, type ic 10.9
24 pseudopseudohypoparathyroidism 10.9
25 basal ganglia calcification, idiopathic, childhood-onset 10.8
26 hypocalciuric hypercalcemia, familial, type i 10.8
27 metaphyseal chondrodysplasia, jansen type 10.8
28 hypoparathyroidism-retardation-dysmorphism syndrome 10.8
29 hypophosphatemic rickets, x-linked dominant 10.8
30 albright's hereditary osteodystrophy 10.8
31 hypercalcemia, infantile, 1 10.3
32 schizophrenia 10.3
33 alacrima, achalasia, and mental retardation syndrome 10.3
34 syndromic intellectual disability 10.3
35 osteoporosis 10.2
36 bone mineral density quantitative trait locus 8 10.2
37 bone mineral density quantitative trait locus 15 10.2
38 charcot-marie-tooth disease, demyelinating, type 1a 10.1
39 charcot-marie-tooth disease 10.1
40 non-syndromic intellectual disability 10.1
41 tooth disease 10.1
42 constipation 10.1
43 neuronitis 10.1
44 ring chromosome 18 10.1
45 autonomic dysfunction 10.1
46 encephalopathy 10.1
47 pitt-hopkins-like syndrome 10.1 CNTNAP2 NRXN1
48 adenoma 10.0
49 secondary hyperparathyroidism of renal origin 10.0
50 parathyroid carcinoma 10.0

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:

53
AbdomenGastrointestinal:
constipation
gastroesophageal reflux

HeadAndNeckNeck:
short neck

HeadAndNeckTeeth:
widely spaced teeth

HeadAndNeckHead:
microcephaly

HeadAndNeckEyes:
strabismus
myopia
astigmatism
deep-set eyes
upslanting palpebral fissures

Respiratory:
hyperventilation
abnormal breathing patterns
intermittent breathing

MuscleSoftTissue:
hypotonia

GenitourinaryExternalGenitaliaMale:
small penis

HeadAndNeckMouth:
wide open mouth
cupid's bow upper lip
thick, fleshy lips

NeurologicCentralNervousSystem:
seizures
incoordination
hypotonia
delayed motor development
mental retardation, severe
more
SkeletalHands:
clinodactyly
simian crease
tapered fingers
small, slender palms
clubbing of the fingers
more
SkeletalFeet:
pes planus
pes valgus
slender feet
fetal pads

HeadAndNeckFace:
full cheeks
short philtrum
square forehead
coarse face
bitemporal narrowing
more
GenitourinaryInternalGenitaliaMale:
cryptorchidism

HeadAndNeckNose:
broad nasal bridge
beaked nasal bridge
downturned, pointed nasal tip
flaring nostrils

HeadAndNeckEars:
cup-shaped ears
fleshy ears

NeurologicBehavioralPsychiatricManifestations:
aggression
happy personality
sterotypical movements


Clinical features from OMIM:

610954

Human phenotypes related to Pitt-Hopkins Syndrome:

55 31 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 constipation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002019
3 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
4 gait ataxia 55 31 Frequent (79-30%) HP:0002066
5 short neck 55 31 Very frequent (99-80%) HP:0000470
6 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
7 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
8 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
9 dysphasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002357
10 sleep apnea 55 31 frequent (33%) Frequent (79-30%) HP:0010535
11 coarse facial features 55 31 Very frequent (99-80%) HP:0000280
12 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
13 pes planus 55 31 Very frequent (99-80%) HP:0001763
14 thick vermilion border 55 31 hallmark (90%) Very frequent (99-80%) HP:0012471
15 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
16 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
17 gastroesophageal reflux 55 31 hallmark (90%) Very frequent (99-80%) HP:0002020
18 full cheeks 55 31 Very frequent (99-80%) HP:0000293
19 feeding difficulties 55 31 hallmark (90%) Very frequent (99-80%) HP:0011968
20 strabismus 55 31 Frequent (79-30%) HP:0000486
21 absent speech 55 31 Frequent (79-30%) HP:0001344
22 cryptorchidism 55 31 frequent (33%) Occasional (29-5%) HP:0000028
23 growth delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001510
24 specific learning disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001328
25 myopia 55 31 frequent (33%) Very frequent (99-80%) HP:0000545
26 hypopigmented skin patches 55 31 occasional (7.5%) Occasional (29-5%) HP:0001053
27 aphasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002381
28 wide mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000154
29 short philtrum 55 31 Very frequent (99-80%) HP:0000322
30 deeply set eye 55 31 hallmark (90%) Very frequent (99-80%) HP:0000490
31 narrow foot 55 31 Frequent (79-30%) HP:0001786
32 upslanted palpebral fissure 55 31 Very frequent (99-80%) HP:0000582
33 esophagitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100633
34 aggressive behavior 55 31 Occasional (29-5%) HP:0000718
35 abnormality of the palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000174
36 thickened helices 55 31 hallmark (90%) Very frequent (99-80%) HP:0000391
37 hiatus hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002036
38 tapered finger 55 31 frequent (33%) Very frequent (99-80%) HP:0001182
39 astigmatism 55 31 Very frequent (99-80%) HP:0000483
40 micropenis 55 31 Occasional (29-5%) HP:0000054
41 misalignment of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000692
42 single transverse palmar crease 55 31 Very frequent (99-80%) HP:0000954
43 echolalia 55 31 hallmark (90%) Very frequent (99-80%) HP:0010529
44 mutism 55 31 hallmark (90%) Very frequent (99-80%) HP:0002300
45 failure of eruption of permanent teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0006352
46 narrow forehead 55 31 Very frequent (99-80%) HP:0000341
47 pes valgus 55 31 Very frequent (99-80%) HP:0008081
48 clubbing 31 HP:0001217
49 clinodactyly 31 HP:0030084
50 sleep disturbance 55 Very frequent (99-80%)

UMLS symptoms related to Pitt-Hopkins Syndrome:


nasal flaring, seizures, constipation

MGI Mouse Phenotypes related to Pitt-Hopkins Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ASCL1 CDKL5 CHD6 CNTNAP2 NRXN1 SLC9A6
2 nervous system MP:0003631 9.5 ASCL1 CDKL5 CNTNAP2 LARP7 NRXN1 SLC9A6
3 taste/olfaction MP:0005394 8.8 ASCL1 CDKL5 CNTNAP2

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 28 TCF4

Anatomical Context for Pitt-Hopkins Syndrome

MalaCards organs/tissues related to Pitt-Hopkins Syndrome:

38
Brain, Eye, Cortex, Skin, Testes

Publications for Pitt-Hopkins Syndrome

Articles related to Pitt-Hopkins Syndrome:

(show all 49)
# Title Authors Year
1
Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series. ( 29318938 )
2018
2
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. ( 29222403 )
2018
3
Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome. ( 28251008 )
2017
4
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. ( 28807867 )
2017
5
WNT/I^-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4. ( 28879201 )
2017
6
An adapted walking intervention for a child with Pitt Hopkins syndrome(). ( 28125296 )
2017
7
A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes. ( 27864810 )
2016
8
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. ( 27132474 )
2016
9
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. ( 27072915 )
2016
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
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge. ( 27617128 )
2015
12
Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless. ( 26621827 )
2015
13
Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome. ( 25900839 )
2015
14
Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism. ( 27625870 )
2014
15
Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. ( 24383606 )
2013
16
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. ( 22335494 )
2013
17
A case of Pitt-Hopkins syndrome with absence of hyperventilation. ( 23248353 )
2013
18
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. ( 23640545 )
2013
19
263.4A kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. ( 23528641 )
2013
20
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. ( 22045651 )
2012
21
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. ( 22887345 )
2012
22
Acetazolamide for severe apnea in Pitt-Hopkins syndrome. ( 22407847 )
2012
23
Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. ( 22777675 )
2012
24
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. ( 22678594 )
2012
25
Pitt-Hopkins Syndrome ( 28520343 )
2012
26
Development, cognition, and behaviour in Pitt-Hopkins syndrome. ( 22712893 )
2012
27
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. ( 22378661 )
2012
28
Pitt-Hopkins Syndrome. ( 22670138 )
2012
29
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
30
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. ( 22378662 )
2012
31
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. ( 21671383 )
2011
32
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. ( 22040220 )
2011
33
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. ( 21544580 )
2011
34
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. ( 21671391 )
2011
35
TCF4, schizophrenia, and Pitt-Hopkins Syndrome. ( 20421335 )
2010
36
Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. ( 20205897 )
2010
37
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. ( 19235238 )
2009
38
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. ( 19938247 )
2009
39
TCF4 deletions in Pitt-Hopkins Syndrome. ( 18781613 )
2008
40
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. ( 18627065 )
2008
41
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. ( 18728071 )
2008
42
Hyperventilation and the Pitt-Hopkins syndrome. ( 18611190 )
2008
43
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. ( 17478476 )
2007
44
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
45
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). ( 17436255 )
2007
46
Pitt-Hopkins syndrome in two patients and further definition of the phenotype. ( 16531728 )
2006
47
Possible case of Pitt-Hopkins syndrome in sibs. ( 11568923 )
2001
48
Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. ( 9475596 )
1998
49
Pitt-Hopkins Syndrome ( 22934316 )
1993

Variations for Pitt-Hopkins Syndrome

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

71 (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 all 43)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCF4 NM_001083962.1(TCF4): c.1086G> A (p.Trp362Ter) single nucleotide variant Pathogenic rs398123560 GRCh37 Chromosome 18, 52924606: 52924606
2 TCF4 NM_001083962.1(TCF4): c.1733G> A (p.Arg578His) single nucleotide variant Pathogenic rs121909123 GRCh37 Chromosome 18, 52896224: 52896224
3 TCF4 NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs) deletion Pathogenic rs398123561 GRCh37 Chromosome 18, 53017622: 53017625
4 TCF4 NM_001083962.1(TCF4): c.1840G> C (p.Ala614Pro) single nucleotide variant Likely pathogenic rs587784462 GRCh38 Chromosome 18, 55228886: 55228886
5 TCF4 NM_001083962.1(TCF4): c.1741G> T (p.Val581Phe) single nucleotide variant Likely pathogenic rs587784460 GRCh38 Chromosome 18, 55228985: 55228985
6 TCF4 NM_001083962.1(TCF4): c.1498G> T (p.Gly500Ter) single nucleotide variant Pathogenic rs587784459 GRCh38 Chromosome 18, 55232660: 55232660
7 TCF4 NM_001083962.1(TCF4): c.1146+1G> A single nucleotide variant Pathogenic rs587784458 GRCh38 Chromosome 18, 55257314: 55257314
8 TCF4 NM_001083962.1(TCF4): c.991-2A> G single nucleotide variant Pathogenic rs587784470 GRCh38 Chromosome 18, 55260029: 55260029
9 TCF4 NM_001083962.1(TCF4): c.990G> A (p.Ser330=) single nucleotide variant Pathogenic/Likely pathogenic rs587784469 GRCh38 Chromosome 18, 55261466: 55261466
10 TCF4 NM_001083962.1(TCF4): c.791delG (p.Ser264Thrfs) deletion Pathogenic rs587784468 GRCh38 Chromosome 18, 55269962: 55269962
11 TCF4 NM_001083962.1(TCF4): c.656-1G> C single nucleotide variant Pathogenic rs587784466 GRCh38 Chromosome 18, 55275753: 55275753
12 TCF4 NM_001083962.1(TCF4): c.655+1G> A single nucleotide variant Pathogenic rs587784465 GRCh38 Chromosome 18, 55279550: 55279550
13 TCF4 NM_001083962.1(TCF4): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs587784464 GRCh38 Chromosome 18, 55350904: 55350904
14 TCF4 NM_001083962.1(TCF4): c.415delC (p.Leu139Phefs) deletion Pathogenic rs587784463 GRCh38 Chromosome 18, 55350958: 55350958
15 TCF4 NM_001083962.1(TCF4): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs727504175 GRCh37 Chromosome 18, 52942891: 52942891
16 TCF4 NM_001083962.1(TCF4): c.1414delG (p.Val472Phefs) deletion Pathogenic rs727504174 GRCh37 Chromosome 18, 52901851: 52901851
17 TCF4 NM_001083962.1(TCF4): c.1357dupA (p.Thr453Asnfs) duplication Pathogenic rs786200992 GRCh37 Chromosome 18, 52901908: 52901908
18 TCF4 NM_001083962.1(TCF4): c.655+1G> T single nucleotide variant Pathogenic rs587784465 GRCh37 Chromosome 18, 52946781: 52946781
19 TCF4 NM_001083962.1(TCF4): c.1438C> T (p.Gln480Ter) single nucleotide variant Pathogenic rs727505396 GRCh37 Chromosome 18, 52901827: 52901827
20 TCF4 NM_001083962.1(TCF4): c.1738C> T (p.Arg580Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121909120 GRCh37 Chromosome 18, 52896219: 52896219
21 TCF4 NM_001083962.1(TCF4): c.1739G> A (p.Arg580Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909121 GRCh37 Chromosome 18, 52896218: 52896218
22 TCF4 NM_001083962.1(TCF4): c.1153C> T (p.Arg385Ter) single nucleotide variant Pathogenic rs121909122 GRCh37 Chromosome 18, 52921925: 52921925
23 TCF4 TCF4, IVS9AS, G-C, -1 single nucleotide variant Pathogenic
24 TCF4 NM_001083962.1(TCF4): c.1733G> C (p.Arg578Pro) single nucleotide variant Pathogenic rs121909123 GRCh37 Chromosome 18, 52896224: 52896224
25 TCF4 TCF4, 1-BP DEL, 908C deletion Pathogenic
26 TCF4 NM_001083962.1(TCF4): c.968C> T (p.Ala323Val) single nucleotide variant Pathogenic rs797045003 GRCh38 Chromosome 18, 55261488: 55261488
27 TCF4 NM_001083962.1(TCF4): c.1069+1G> T single nucleotide variant Pathogenic rs797045072 GRCh37 Chromosome 18, 52927179: 52927179
28 TCF4 NM_001083962.1(TCF4): c.1965dupC (p.Gly656Argfs) duplication Pathogenic/Likely pathogenic rs797046035 GRCh37 Chromosome 18, 52895507: 52895507
29 TCF4 NM_001083962.1(TCF4): c.1871A> C (p.Gln624Pro) single nucleotide variant Likely pathogenic rs797046034 GRCh37 Chromosome 18, 52896086: 52896086
30 TCF4 NM_001083962.1(TCF4): c.1411C> T (p.Gln471Ter) single nucleotide variant Pathogenic rs797046033 GRCh37 Chromosome 18, 52901854: 52901854
31 TCF4 NM_001083962.1(TCF4): c.655+2_655+3insGT insertion Pathogenic rs797046036 GRCh37 Chromosome 18, 52946779: 52946780
32 TCF4 NM_003199.2(TCF4): c.978delAinsGG (p.Ala327Glyfs) indel Pathogenic rs863223404 GRCh37 Chromosome 18, 52928709: 52928709
33 TCF4 NM_001083962.1(TCF4): c.550-2A> G single nucleotide variant Likely pathogenic rs863224934 GRCh38 Chromosome 18, 55279658: 55279658
34 TCF4 NM_001083962.1(TCF4): c.145+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 53252510: 53252510
35 TCF4 NM_001243234.1(TCF4): c.656dupT (p.Leu219Phefs) duplication Likely pathogenic rs1057519592 GRCh37 Chromosome 18, 52924556: 52924556
36 TCF4 NM_001083962.1(TCF4): c.1957_1958delTC (p.Ser653Leufs) deletion Pathogenic rs1135401807 GRCh37 Chromosome 18, 52895514: 52895515
37 TCF4 NM_001083962.1(TCF4): c.759C> G (p.Ser253Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 52942880: 52942880
38 TCF4 NM_001083962.1(TCF4): c.1834delC (p.His612Thrfs) deletion Pathogenic GRCh38 Chromosome 18, 55228892: 55228892
39 TCF4 NM_001083962.1(TCF4): c.1760C> T (p.Ala587Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 52896197: 52896197
40 TCF4 NM_001083962.1(TCF4): c.1504delC (p.Gln502Argfs) deletion Pathogenic GRCh37 Chromosome 18, 52899885: 52899885
41 TCF4 NM_001083962.1(TCF4): c.1469C> G (p.Pro490Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 55234565: 55234565
42 TCF4 NC_000018.10: g.(?_55228205)_(55635917_?)del deletion Pathogenic GRCh38 Chromosome 18, 55228205: 55635917
43 TCF4 NM_001083962.1(TCF4): c.1557delT (p.Asp520Metfs) deletion Pathogenic GRCh38 Chromosome 18, 55232601: 55232601

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:

36
# Name Kegg Source Accession
1 Cell adhesion molecules (CAMs) hsa04514

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

# Super pathways Score Top Affiliating Genes
1 10.63 ASCL1 TCF4

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 synapse GO:0045202 9.13 CDKL5 NRXN1 SLC9A6
2 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 neuron migration GO:0001764 9.46 ASCL1 CDKL5
2 positive regulation of neuron differentiation GO:0045666 9.43 ASCL1 TCF4
3 cerebral cortex development GO:0021987 9.4 ASCL1 CNTNAP2
4 learning GO:0007612 9.37 CNTNAP2 NRXN1
5 neuron projection morphogenesis GO:0048812 9.32 CNTNAP2 SLC9A6
6 social behavior GO:0035176 9.26 CNTNAP2 NRXN1
7 adult behavior GO:0030534 9.16 CNTNAP2 NRXN1
8 vocalization behavior GO:0071625 8.96 CNTNAP2 NRXN1
9 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
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
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