Pitt-Hopkins Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Aliases & Classifications for Pitt-Hopkins Syndrome

Sources:
⁶⁵UMLS, ⁴⁹OMIM, ¹⁰Disease Ontology, ¹¹diseasecard, ²¹GeneReviews, ⁴⁵NIH Rare Diseases, ²²GeneTests, ²³Genetics Home Reference, ¹²DISEASES, ⁵¹Orphanet, ⁶⁷UniProtKB/Swiss-Prot, ³⁶MeSH, ²⁴GTR, ²⁷ICD10, ²⁸ICD10 via Orphanet, ³⁷MESH via Orphanet, ⁶⁶UMLS via Orphanet, ³⁴MedGen, ⁶¹The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pitt-Hopkins Syndrome:

Name: Pitt-Hopkins Syndrome ⁴⁹ ¹⁰ ¹¹ ²¹ ⁴⁵ ²² ²³ ¹² ⁵¹ ⁶⁷ ³⁶ ⁶⁵

Pitt Hopkins Syndrome ⁴⁵ ²² ²⁴

Pths ²³ ⁶⁷

Intellectual Disability, Wide Mouth, Distinctive Facial Features, and Intermittent Hyperventilation Followed by Apnea ⁴⁵

Mental Retardation Syndromal with Intermittent Hyperventilation ⁶⁷

Encephalopathy Severe Epileptic with Autonomic Dysfunction ⁶⁷

Pallister-Hall Syndrome ⁶⁵

Mesh; D006985 ⁶⁷

Mesh; D008607 ⁶⁷

Phs ²³

Characteristics:

Orphanet epidemiological data:

⁵¹

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

HPO:

⁶¹

pitt-hopkins syndrome:
Inheritance: autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases

See all MalaCards categories (disease lists)

ICD10: ²⁸ ²⁷

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

Orphanet: ⁵¹

Rare neurological diseases

External Ids:

OMIM⁴⁹ 610954

Disease Ontology¹⁰ DOID:0060488

ICD10²⁷ Q87.0

MeSH³⁶ C537403

Orphanet⁵¹ 2896

ICD10 via Orphanet²⁸ Q87.0

MESH via Orphanet³⁷ C537403

UMLS via Orphanet⁶⁶ C1970431

MedGen³⁴ C1970431

UMLS⁶⁵ C1970431

Summaries for Pitt-Hopkins Syndrome

Sources:
¹⁰Disease Ontology, ⁴⁵NIH Rare Diseases, ⁶⁷UniProtKB/Swiss-Prot, ²³Genetics Home Reference, ⁴⁹OMIM, ²¹GeneReviews, ³³MalaCards
See all MalaCards sources

NIH Rare Diseases:⁴⁵ 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 pitt hopkins syndrome, is related to pth-related familial isolated hypoparathyroidism and familial isolated hypoparathyroidism due to impaired pth secretion, and has symptoms including wide mouth, abnormality of the teeth and abnormality of the palate. An important gene associated with Pitt-Hopkins Syndrome is TCF4 (Transcription Factor 4), and among its related pathways is CDO in myogenesis. Affiliated tissues include brain, testes and skin, and related mouse phenotypes are taste/olfaction and nervous system.

Disease Ontology:¹⁰ A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It is caused by heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.

UniProtKB/Swiss-Prot:⁶⁷ 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:²³ Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.

OMIM:⁴⁹ The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and... (610954) more...

GeneReviews summary for NBK100240

Related Diseases for Pitt-Hopkins Syndrome

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
See all MalaCards sources

Diseases in the Pitt-Hopkins Syndrome family:

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 73)

id	Related Disease	Score	Top Affiliating Genes
1	pth-related familial isolated hypoparathyroidism	11.9
2	familial isolated hypoparathyroidism due to impaired pth secretion	11.9
3	pallister-hall syndrome	11.2
4	hyperoxaluria, primary, type iii	11.2
5	hyperphenylalaninemia, bh4-deficient, d	11.1
6	hyperparathyroidism	10.9
7	hypoparathyroidism	10.8
8	primary hyperparathyroidism	10.8
9	pseudohypoparathyroidism, type ib	10.7
10	pseudohypoparathyroidism	10.7
11	renal osteodystrophy	10.7
12	pulmonary hypertension	10.6
13	pitt-hopkins-like syndrome 2	10.5
14	cortical dysplasia-focal epilepsy syndrome	10.5
15	lactic acidosis	10.5
16	leukemia	10.4
17	metabolic acidosis	10.4
18	hypercalcemia	10.4
19	influenza	10.4
20	h. pylori infection	10.3
21	alzheimer disease	10.3
22	neuroblastoma	10.3
23	syndromic intellectual disability	10.3
24	intellectual disability	10.3
25	osteoporosis	10.3
26	colorectal cancer	10.3
27	lung cancer	10.2
28	ischemic heart disease	10.2
29	pituitary dwarfism with large sella turcica	10.2	CNTNAP2, NRXN1
30	gastroesophageal reflux	10.2
31	esophagitis	10.2
32	schizophrenia	10.1
33	charcot-marie-tooth disease, type 1a	10.1
34	charcot-marie-tooth disease	10.1
35	non-syndromic intellectual disability	10.1
36	tooth disease	10.1
37	neuronitis	10.1
38	ring chromosome 18	10.1
39	autonomic dysfunction	10.1
40	encephalopathy	10.1
41	lymphoblastic leukemia	10.1
42	myeloid leukemia	10.1
43	breast cancer	10.1
44	vaginitis	10.1
45	adenoma	10.1
46	hypocalcemia, autosomal dominant	10.0
47	pseudohypoparathyroidism ia	10.0
48	parathyroid gland disease	10.0
49	prostatitis	10.0
50	hypoxia	10.0

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

Symptoms for Pitt-Hopkins Syndrome

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology, ⁵¹Orphanet, ⁶⁵UMLS
See all MalaCards sources

Symptoms by clinical synopsis from OMIM:

610954

Clinical features from OMIM:

610954

Symptoms:

⁵¹ (show all 24)

microcephaly
deepset eyes/enophthalmos
anteverted nares/nostrils
macrostomia/big mouth
thick lips
palate anomalies
abnormal dentition/dental position/implantation/unerupted/dental ankylosis
helix thickened/sculpted
gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
constipation
ataxia/incoordination/trouble of the equilibrium
hypotonia

speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
intellectual deficit/mental/psychomotor retardation/learning disability
autosomal dominant inheritance
failure to thrive/difficulties for feeding in infancy/growth delay
myopia
tapered fingers
respiratory rhythm disorder
apnea/sleep apnea
undescended/ectopic testes/cryptorchidia/unfixed testes
seizures/epilepsy/absences/spasms/status epilepticus
irregular/patchy skin hypopigmentation
micropenis/small penis/agenesis

HPO human phenotypes related to Pitt-Hopkins Syndrome:

(show all 58)

id	Description	Frequency	HPO Source Accession
1	wide mouth	hallmark (90%)	HP:0000154
2	abnormality of the teeth	hallmark (90%)	HP:0000164
3	abnormality of the palate	hallmark (90%)	HP:0000174
4	thick lower lip vermilion	hallmark (90%)	HP:0000179
5	microcephaly	hallmark (90%)	HP:0000252
6	thickened helices	hallmark (90%)	HP:0000391
7	anteverted nares	hallmark (90%)	HP:0000463
8	deeply set eye	hallmark (90%)	HP:0000490
9	muscular hypotonia	hallmark (90%)	HP:0001252
10	constipation	hallmark (90%)	HP:0002019
11	neurological speech impairment	hallmark (90%)	HP:0002167
12	incoordination	hallmark (90%)	HP:0002311
13	cognitive impairment	hallmark (90%)	HP:0100543
14	cryptorchidism	typical (50%)	HP:0000028
15	myopia	typical (50%)	HP:0000545
16	tapered finger	typical (50%)	HP:0001182
17	seizures	typical (50%)	HP:0001250
18	apnea	typical (50%)	HP:0002104
19	hypopigmented skin patches	occasional (7.5%)	HP:0001053
20	hypoplasia of penis	occasional (7.5%)	HP:0008736
21	cryptorchidism		HP:0000028
22	micropenis		HP:0000054
23	open mouth		HP:0000194
24	microcephaly		HP:0000252
25	coarse facial features		HP:0000280
26	full cheeks		HP:0000293
27	short philtrum		HP:0000322
28	narrow forehead		HP:0000341
29	cupped ear		HP:0000378
30	wide nasal bridge		HP:0000431
31	short neck		HP:0000470
32	astigmatism		HP:0000483
33	strabismus		HP:0000486
34	deeply set eye		HP:0000490
35	myopia		HP:0000545
36	upslanted palpebral fissure		HP:0000582
37	widely spaced teeth		HP:0000687
38	aggressive behavior		HP:0000718
39	single transverse palmar crease		HP:0000954
40	tapered finger		HP:0001182
41	clubbing		HP:0001217
42	seizures		HP:0001250
43	muscular hypotonia		HP:0001252
44	motor delay		HP:0001270
45	encephalopathy		HP:0001298
46	absent speech		HP:0001344
47	pes planus		HP:0001763
48	narrow foot		HP:0001786
49	constipation		HP:0002019
50	gastroesophageal reflux		HP:0002020
51	gait ataxia		HP:0002066
52	hypoplasia of the corpus callosum		HP:0002079
53	incoordination		HP:0002311
54	dysautonomia		HP:0002459
55	intermittent hyperventilation		HP:0004879
56	intellectual disability, progressive		HP:0006887
57	intellectual disability, severe		HP:0010864
58	clinodactyly		HP:0030084

UMLS symptoms related to Pitt-Hopkins Syndrome:

abnormal coordination, nasal flaring, seizures, constipation

Drugs & Therapeutics for Pitt-Hopkins Syndrome

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ⁶Cochrane Library
See all MalaCards sources

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pitt-Hopkins Syndrome

Cochrane evidence based reviews: pitt-hopkins syndrome

Genetic Tests for Pitt-Hopkins Syndrome

Sources:
²²GeneTests
See all MalaCards sources

Genetic tests related to Pitt-Hopkins Syndrome:

id	Genetic test	Affiliating Genes
1	Pitt-Hopkins Syndrome²²	TCF4

Anatomical Context for Pitt-Hopkins Syndrome

Sources:
³³MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Pitt-Hopkins Syndrome:

³³

Brain, Testes, Skin, Eye, Endothelial, Lung, Heart

Animal Models for Pitt-Hopkins Syndrome or affiliated genes

Sources:
³⁸MGI
See all MalaCards sources

MGI Mouse Phenotypes related to Pitt-Hopkins Syndrome:

³⁸

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	taste/olfaction	MP:0005394	9.0	ASCL1, CDKL5, CNTNAP2
2	nervous system	MP:0003631	6.9	ASCL1, CDKL5, CNTNAP2, MEF2C, NRXN1, SLC9A6
3	behavior/neurological	MP:0005386	6.4	ASCL1, CDKL5, CHD6, CNTNAP2, MEF2C, NRXN1

Publications for Pitt-Hopkins Syndrome

Sources:
⁵⁴PubMed
See all MalaCards sources

Articles related to Pitt-Hopkins Syndrome:

(show all 39)

id	Title	Authors	Year
1	Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. (27072915)	de Winter C.F.... Hennekam R.C.	2016
2	Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. (27132474)	Kharbanda M.... Sepp M.	2016
3	Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless. (26621827)	Tamberg L.... Palgi M.	2015
4	Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome. (25900839)	Gaffney C.... McNally P.	2015
5	Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. (23640545)	Sweatt J.D.	2013
6	Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. (22335494)	Steinbusch C.V.... Schrander-Stumpel C.T.	2013
7	A case of Pitt-Hopkins syndrome with absence of hyperventilation. (23248353)	Inati A.... Saab R.	2013
8	263.4A kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. (23528641)	Kousoulidou L.... Anastasiadou V.	2013
9	Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. (24383606)	Navaratnarajah J.	2013
10	Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. (22887345)	Takenouchi T.... Kosaki K.	2012
11	Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)	Ghosh P.S.... Ghosh D.	2012
12	Acetazolamide for severe apnea in Pitt-Hopkins syndrome. (22407847)	Verhulst S.L.... De Backer W.	2012
13	Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects. (22460224)	Sepp M.... Timmusk T.	2012
14	Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. (22378662)	Maini I.... Pisani F.	2012
15	Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. (22777675)	Forrest M.... Blake D.J.	2012
16	Pitt-Hopkins Syndrome. (22670138)	Peippo M.... Ignatius J.	2012
17	Development, cognition, and behaviour in Pitt-Hopkins syndrome. (22712893)	Van Balkom I.D.... Hennekam R.C.	2012
18	Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. (22678594)	Marangi G.... Zollino M.	2012
19	Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. (22045651)	Whalen S.... Giurgea I.	2012
20	Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. (22040220)	Takano K.... Schwartz C.E.	2011
21	Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. (21671383)	Lehalle D.... Clayton-Smith J.	2011
22	The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. (21671391)	Marangi G.... Zollino M.	2011
23	Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. (21544580)	Brockschmidt A.... Weber R.G.	2011
24	TCF4, schizophrenia, and Pitt-Hopkins Syndrome. (20421335)	Blake D.J.... Owen M.J.	2010
25	Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. (20205897)	Taddeucci G.... Tarantino E.	2010
26	Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. (19938247)	Rosenfeld J.A.... Shaffer L.G.	2009
27	Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. (19235238)	De Pontual L.... Amiel J.	2009
28	Hyperventilation and the Pitt-Hopkins syndrome. (18611190)	Ouvrier R.	2008
29	Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. (18627065)	Kalscheuer V.M.... Ropers H.H.	2008
30	TCF4 deletions in Pitt-Hopkins Syndrome. (18781613)	Giurgea I.... Moncla A.	2008
31	Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. (18728071)	Zweier C.... Rauch A.	2008
32	Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. (17478476)	Brockschmidt A.... Weber R.G.	2007
33	Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (17436255)	Zweier C.... Rauch A.	2007
34	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)	Amiel J.... Colleaux L.	2007
35	Pitt-Hopkins syndrome in two patients and further definition of the phenotype. (16531728)	Peippo M.M.... Ignatius J.	2006
36	Possible case of Pitt-Hopkins syndrome in sibs. (11568923)	Orrico A.... Hayek G.	2001
37	Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. (9475596)	Van Balkom I.D.... Hennekam R.C.	1998
38	Pitt-Hopkins Syndrome (22934316)	Pagon R.A.... Stephens K.	1993
39	(10049968)

Genes related to Pitt-Hopkins Syndrome

Sources:
²⁰GeneCards, ⁴⁹OMIM, ⁵Clinvar, ⁶⁷UniProtKB/Swiss-Prot, ²²GeneTests, ⁵¹Orphanet, ¹²DISEASES
See all MalaCards sources

Genes related to Pitt-Hopkins Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication
1	TCF4	Transcription Factor 4	1412.52	Molecular basis known ⁴⁹ Pathogenic ⁵ Causative variation ⁶⁷ Genetic Tests ²² Causative germline mutation (loss of function) ⁵¹ DISEASES inferred ¹² GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)
2	FECD3	Corneal Dystrophy, Fuchs Endothelial, 3	500.00	Molecular basis known ⁴⁹
3	NRXN1	Neurexin 1	25.17	DISEASES inferred ¹² GeneCards inferred via : Publications (show sections)
4	CNTNAP2	Contactin Associated Protein-Like 2	25.13	DISEASES inferred ¹² GeneCards inferred via : Publications (show sections)
5	CHD6	Chromodomain Helicase DNA Binding Protein 6	24.50	DISEASES inferred ¹² GeneCards inferred via : Publications (show sections)
6	SLC9A6	Solute Carrier Family 9 Member A6	16.79	DISEASES inferred ¹²
7	CDKL5	Cyclin Dependent Kinase Like 5	16.29	DISEASES inferred ¹²
8	MEF2C	Myocyte Enhancer Factor 2C	16.19	DISEASES inferred ¹²
9	ASCL1	Achaete-Scute Family BHLH Transcription Factor 1	16.18	DISEASES inferred ¹²

Variations for Pitt-Hopkins Syndrome

Sources:
⁶⁷UniProtKB/Swiss-Prot, ⁵Clinvar
See all MalaCards sources

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

⁶⁷ (show all 13)

id	Symbol	AA change	Variation ID
1	TCF4	p.Arg576Gln	VAR_034704
2	TCF4	p.Arg576Trp	VAR_034705
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
8	TCF4	p.Arg578His	VAR_066841
9	TCF4	p.Arg565Trp	VAR_066970
10	TCF4	p.Arg572Gln	VAR_066971
11	TCF4	p.Arg574His	VAR_066972
12	TCF4	p.Arg578Pro	VAR_066973
13	TCF4	p.Ala583Pro	VAR_066974

Clinvar genetic disease variations for Pitt-Hopkins Syndrome:

⁵ (show all 33)

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TCF4	NM_001083962.1(TCF4): c.1146+1G> A	single nucleotide variant	Pathogenic	rs587784458	GRCh37	Chr 18, 52924545: 52924545
2	TCF4	NM_001083962.1(TCF4): c.1498G> T (p.Gly500Ter)	single nucleotide variant	Pathogenic	rs587784459	GRCh37	Chr 18, 52899891: 52899891
3	TCF4	NM_001083962.1(TCF4): c.1741G> T (p.Val581Phe)	single nucleotide variant	Likely pathogenic	rs587784460	GRCh37	Chr 18, 52896216: 52896216
4	TCF4	NM_001083962.1(TCF4): c.1840G> C (p.Ala614Pro)	single nucleotide variant	Likely pathogenic	rs587784462	GRCh37	Chr 18, 52896117: 52896117
5	TCF4	NM_001083962.1(TCF4): c.415delC (p.Leu139Phefs)	deletion	Pathogenic	rs587784463	GRCh37	Chr 18, 53018189: 53018189
6	TCF4	NM_001083962.1(TCF4): c.469C> T (p.Arg157Ter)	single nucleotide variant	Pathogenic	rs587784464	GRCh37	Chr 18, 53018135: 53018135
7	TCF4	NM_001083962.1(TCF4): c.655+1G> A	single nucleotide variant	Pathogenic	rs587784465	GRCh37	Chr 18, 52946781: 52946781
8	TCF4	NM_001083962.1(TCF4): c.656-1G> C	single nucleotide variant	Pathogenic	rs587784466	GRCh37	Chr 18, 52942984: 52942984
9	TCF4	NM_001083962.1(TCF4): c.791delG (p.Ser264Thrfs)	deletion	Pathogenic	rs587784468	GRCh37	Chr 18, 52937193: 52937193
10	TCF4	NM_001083962.1(TCF4): c.990G> A (p.Ser330=)	single nucleotide variant	Likely pathogenic	rs587784469	GRCh37	Chr 18, 52928697: 52928697
11	TCF4	NM_001083962.1(TCF4): c.991-2A> G	single nucleotide variant	Pathogenic	rs587784470	GRCh37	Chr 18, 52927260: 52927260
12	TCF4	NM_001083962.1(TCF4): c.1414delG (p.Val472Phefs)	deletion	Pathogenic	rs727504174	GRCh37	Chr 18, 52901851: 52901851
13	TCF4	NM_001083962.1(TCF4): c.1357dupA (p.Thr453Asnfs)	duplication	Pathogenic	rs786200992	GRCh37	Chr 18, 52901908: 52901908
14	TCF4	NM_001083962.1(TCF4): c.748C> T (p.Gln250Ter)	single nucleotide variant	Pathogenic	rs727504175	GRCh37	Chr 18, 52942891: 52942891
15	TCF4	NM_001083962.1(TCF4): c.655+1G> T	single nucleotide variant	Pathogenic	rs587784465	GRCh37	Chr 18, 52946781: 52946781
16	TCF4	NM_001083962.1(TCF4): c.1438C> T (p.Gln480Ter)	single nucleotide variant	Pathogenic	rs727505396	GRCh38	Chr 18, 55234596: 55234596
17	TCF4	NM_001083962.1(TCF4): c.968C> T (p.Ala323Val)	single nucleotide variant	Pathogenic	rs797045003	GRCh38	Chr 18, 55261488: 55261488
18	TCF4	NM_001083962.1(TCF4): c.1069+1G> T	single nucleotide variant	Pathogenic	rs797045072	GRCh37	Chr 18, 52927179: 52927179
19	TCF4	NM_001083962.1(TCF4): c.1411C> T (p.Gln471Ter)	single nucleotide variant	Pathogenic	rs797046033	GRCh37	Chr 18, 52901854: 52901854
20	TCF4	NM_001083962.1(TCF4): c.1871A> C (p.Gln624Pro)	single nucleotide variant	Likely pathogenic	rs797046034	GRCh37	Chr 18, 52896086: 52896086
21	TCF4	NM_001083962.1(TCF4): c.1965dupC (p.Gly656Argfs)	duplication	Likely pathogenic, Pathogenic	rs797046035	GRCh38	Chr 18, 55228276: 55228276
22	TCF4	NM_001083962.1(TCF4): c.655+2_655+3insGT	insertion	Pathogenic	rs797046036	GRCh37	Chr 18, 52946779: 52946780
23	TCF4	NM_003199.2(TCF4): c.978delAinsGG (p.Ala327Glyfs)	indel	Pathogenic	rs863223404	GRCh37	Chr 18, 52928709: 52928710
24	TCF4	NM_001083962.1(TCF4): c.550-2A> G	single nucleotide variant	Likely pathogenic	rs863224934	GRCh38	Chr 18, 55279658: 55279658
25	TCF4	NM_001083962.1(TCF4): c.1738C> T (p.Arg580Trp)	single nucleotide variant	Pathogenic	rs121909120	GRCh37	Chr 18, 52896219: 52896219
26	TCF4	NM_001083962.1(TCF4): c.1739G> A (p.Arg580Gln)	single nucleotide variant	Pathogenic	rs121909121	GRCh37	Chr 18, 52896218: 52896218
27	TCF4	NM_001083962.1(TCF4): c.1153C> T (p.Arg385Ter)	single nucleotide variant	Pathogenic	rs121909122	GRCh37	Chr 18, 52921925: 52921925
28	TCF4	TCF4, IVS9AS, G-C, -1	single nucleotide variant	Pathogenic
29	TCF4	NM_001083962.1(TCF4): c.1733G> C (p.Arg578Pro)	single nucleotide variant	Pathogenic	rs121909123	GRCh37	Chr 18, 52896224: 52896224
30	TCF4	TCF4, 1-BP DEL, 908C	deletion	Pathogenic
31	TCF4	NM_001083962.1(TCF4): c.1086G> A (p.Trp362Ter)	single nucleotide variant	Pathogenic	rs398123560	GRCh37	Chr 18, 52924606: 52924606
32	TCF4	NM_001083962.1(TCF4): c.1733G> A (p.Arg578His)	single nucleotide variant	Pathogenic	rs121909123	GRCh37	Chr 18, 52896224: 52896224
33	TCF4	NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs)	deletion	Pathogenic	rs398123561	GRCh37	Chr 18, 53017622: 53017625

Expression for genes affiliated with Pitt-Hopkins Syndrome

Sources:
¹⁷Gene Expression Omnibus DataSets
See all MalaCards sources

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

Pathways for genes affiliated with Pitt-Hopkins Syndrome

Sources:
⁵²PathCards, ⁵⁷Reactome
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	CDO in myogenesis⁵⁷ Show member pathways Myogenesis⁵⁷	9.3	MEF2C, TCF4

GO Terms for genes affiliated with Pitt-Hopkins Syndrome

Sources:
¹⁸Gene Ontology
See all MalaCards sources

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

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	vocalization behavior	GO:0071625	10.0	CNTNAP2, NRXN1
2	adult behavior	GO:0030534	9.9	CNTNAP2, NRXN1
3	social behavior	GO:0035176	9.7	CNTNAP2, NRXN1
4	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	GO:2000311	9.6	MEF2C, NRXN1
5	cerebral cortex development	GO:0021987	9.4	ASCL1, CNTNAP2
6	neuron differentiation	GO:0030182	9.2	ASCL1, MEF2C
7	positive regulation of neuron differentiation	GO:0045666	9.1	ASCL1, MEF2C
8	neuron migration	GO:0001764	8.2	ASCL1, CDKL5, MEF2C