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

Aliases & Classifications for Pitt-Hopkins Syndrome

Sources:
¹¹Disease Ontology, ¹²diseasecard, ¹³DISEASES, ²³GeneReviews, ²⁴GeneTests, ²⁵Genetics Home Reference, ²⁷GTR, ³¹ICD10 via Orphanet, ³⁷MedGen, ³⁹MeSH, ⁴⁰MESH via Orphanet, ⁴⁸NIH Rare Diseases, ⁵²OMIM, ⁵⁴Orphanet, ⁶²SNOMED-CT, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁶⁹UMLS via Orphanet, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pitt-Hopkins Syndrome:

Name: Pitt-Hopkins Syndrome ⁵² ¹¹ ²³ ⁴⁸ ²⁴ ²⁵ ⁵⁴ ⁷⁰ ¹² ³⁹ ¹³ ⁶⁸

Pitt Hopkins Syndrome ⁴⁸ ²⁴ ²⁷

Pths ²⁵ ⁷⁰

Intellectual Disability, Wide Mouth, Distinctive Facial Features, and Intermittent Hyperventilation Followed by Apnea ⁴⁸

Mental Retardation Syndromal with Intermittent Hyperventilation ⁷⁰

Encephalopathy Severe Epileptic with Autonomic Dysfunction ⁷⁰

Mesh; D006985 ⁷⁰

Mesh; D008607 ⁷⁰

Phs ²⁵

Characteristics:

Orphanet epidemiological data:

⁵⁴

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

HPO:

⁶⁴

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: ³¹

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: ⁵⁴

Rare neurological diseases

External Ids:

OMIM⁵² 610954

Disease Ontology¹¹ DOID:0060488

MeSH³⁹ C537403

Orphanet⁵⁴ ORPHA2896

SNOMED-CT⁶² 702344008

UMLS via Orphanet⁶⁹ C1970431

ICD10 via Orphanet³¹ Q87.0

MESH via Orphanet⁴⁰ C537403

MedGen³⁷ C1970431

UMLS⁶⁸ C1970431

Summaries for Pitt-Hopkins Syndrome

Sources:
¹¹Disease Ontology, ²³GeneReviews, ²⁵Genetics Home Reference, ³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

NIH Rare Diseases:⁴⁸ 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 pseudohypoparathyroidism, type ib, and has symptoms including constipation, constipation and seizures. An important gene associated with Pitt-Hopkins Syndrome is TCF4 (Transcription Factor 4), and among its related pathways is Cell adhesion molecules (CAMs). Affiliated tissues include brain, eye and testes, and related mouse phenotypes are behavior/neurological and nervous system.

Disease Ontology:¹¹ 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:⁵² The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and... (610954) more...

UniProtKB/Swiss-Prot:⁷⁰ 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.

GeneReviews for NBK100240

Related Diseases for Pitt-Hopkins Syndrome

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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 81)

id	Related Disease	Score	Top Affiliating Genes
1	pth-related familial isolated hypoparathyroidism	11.8
2	pseudohypoparathyroidism, type ib	11.4
3	hypoparathyroidism, familial isolated	11.4
4	pulmonary hypertension	11.4
5	pitt-hopkins-like syndrome 2	11.3
6	cortical dysplasia-focal epilepsy syndrome	11.3
7	hyperparathyroidism	11.2
8	hypoparathyroidism	11.2
9	lactic acidosis	11.2
10	pseudohypoparathyroidism	11.1
11	renal osteodystrophy	11.1
12	pallister-hall syndrome	11.0
13	hyperoxaluria, primary, type iii	11.0
14	metabolic acidosis	11.0
15	h. pylori infection	11.0
16	hyperphenylalaninemia, bh4-deficient, d	10.9
17	hypocalcemia, autosomal dominant	10.9
18	hypomagnesemia 1, intestinal	10.9
19	pseudohypoparathyroidism ia	10.9
20	acid sphingomyelinase deficiency	10.8
21	hyperparathyroidism, familial primary	10.8
22	pseudohypoparathyroidism ic	10.8
23	pseudohypoparathyroidism, type ii	10.8
24	smith-lemli-opitz syndrome	10.7
25	gitelman syndrome	10.7
26	leukemia, chronic myeloid, somatic	10.7
27	bartter disease	10.7
28	urinary system disease	10.7
29	hyperuricemia	10.7
30	renal tubular acidosis, distal	10.7
31	proximal renal tubular acidosis	10.7
32	hypoparathyroidism-retardation-dysmorphism syndrome	10.7
33	hypocalciuric hypercalcemia, type i	10.7
34	pseudopseudohypoparathyroidism	10.7
35	hypophosphatemic rickets, x-linked dominant	10.7
36	metaphyseal chondrodysplasia, murk jansen type	10.7
37	leukemia	10.3
38	lung cancer	10.2
39	alzheimer disease	10.2
40	intellectual disability	10.2
41	osteoporosis	10.2
42	gastroesophageal reflux	10.1
43	plasma cell leukemia	10.0	CNTNAP2, NRXN1
44	esophagitis	10.0
45	lymphoblastic leukemia	10.0
46	myeloid leukemia	10.0
47	schizophrenia	10.0
48	charcot-marie-tooth disease, type 1a	10.0
49	charcot-marie-tooth disease	10.0
50	non-syndromic intellectual disability	10.0

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

Symptoms & Phenotypes for Pitt-Hopkins Syndrome

Sources:
⁴¹MGI, ⁵²OMIM, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS
See all MalaCards sources

Symptoms by clinical synopsis from OMIM:

610954

Clinical features from OMIM:

610954

Human phenotypes related to Pitt-Hopkins Syndrome:

⁶⁴ (show all 38)

id	Description	HPO Source Accession
1	cryptorchidism⁶⁴	HP:0000028
2	micropenis⁶⁴	HP:0000054
3	open mouth⁶⁴	HP:0000194
4	microcephaly⁶⁴	HP:0000252
5	coarse facial features⁶⁴	HP:0000280
6	full cheeks⁶⁴	HP:0000293
7	short philtrum⁶⁴	HP:0000322
8	narrow forehead⁶⁴	HP:0000341
9	cupped ear⁶⁴	HP:0000378
10	wide nasal bridge⁶⁴	HP:0000431
11	short neck⁶⁴	HP:0000470
12	astigmatism⁶⁴	HP:0000483
13	strabismus⁶⁴	HP:0000486
14	deeply set eye⁶⁴	HP:0000490
15	myopia⁶⁴	HP:0000545
16	upslanted palpebral fissure⁶⁴	HP:0000582
17	widely spaced teeth⁶⁴	HP:0000687
18	aggressive behavior⁶⁴	HP:0000718
19	single transverse palmar crease⁶⁴	HP:0000954
20	tapered finger⁶⁴	HP:0001182
21	clubbing⁶⁴	HP:0001217
22	seizures⁶⁴	HP:0001250
23	muscular hypotonia⁶⁴	HP:0001252
24	motor delay⁶⁴	HP:0001270
25	encephalopathy⁶⁴	HP:0001298
26	absent speech⁶⁴	HP:0001344
27	pes planus⁶⁴	HP:0001763
28	narrow foot⁶⁴	HP:0001786
29	constipation⁶⁴	HP:0002019
30	gastroesophageal reflux⁶⁴	HP:0002020
31	gait ataxia⁶⁴	HP:0002066
32	hypoplasia of the corpus callosum⁶⁴	HP:0002079
33	incoordination⁶⁴	HP:0002311
34	dysautonomia⁶⁴	HP:0002459
35	intermittent hyperventilation⁶⁴	HP:0004879
36	intellectual disability, progressive⁶⁴	HP:0006887
37	intellectual disability, severe⁶⁴	HP:0010864
38	clinodactyly⁶⁴	HP:0030084

UMLS symptoms related to Pitt-Hopkins Syndrome:

constipation, seizures, nasal flaring, abnormal coordination

MGI Mouse Phenotypes related to Pitt-Hopkins Syndrome according to GeneCards Suite gene sharing:

⁴¹

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	8.4	CDKL5, CHD6, CNTNAP2, NRXN1, SLC9A6
2	nervous system	MP:0003631	7.3	CDKL5, CNTNAP2, LARP7, NRXN1, SLC9A6, TCF4

Drugs & Therapeutics for Pitt-Hopkins Syndrome

Sources:
⁴ClinicalTrials, ⁷Cochrane 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:
²⁴GeneTests, ²⁷GTR
See all MalaCards sources

Genetic tests related to Pitt-Hopkins Syndrome:

id	Genetic test	Affiliating Genes
1	Pitt-Hopkins Syndrome²⁷ ²⁴	TCF4

Anatomical Context for Pitt-Hopkins Syndrome

Sources:
³⁶MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Pitt-Hopkins Syndrome:

³⁶

Brain, Eye, Testes

Publications for Pitt-Hopkins Syndrome

Sources:
⁵⁷PubMed
See all MalaCards sources

Articles related to Pitt-Hopkins Syndrome:

(show all 45)

id	Title	Authors	Year
1	An adapted walking intervention for a child with Pitt Hopkins syndrome(). (28125296)	Casey A.F.... MacNeil Z.	2017
2	Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome. (28251008)	Aquino A.... Uberti S.	2017
3	A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes. (27864810)	Hong S.Y.... Tsai F.J.	2016
4	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
5	Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome. (28032012)	Rannals M.D.... Maher B.J.	2016
6	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
7	Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless. (26621827)	Tamberg L.... Palgi M.	2015
8	Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge. (27617128)	Marangi G.... Zollino M.	2015
9	Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome. (25900839)	Gaffney C.... McNally P.	2015
10	Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism. (27625870)	Avina Fierro J.A.... Avina D.A.	2014
11	A case of Pitt-Hopkins syndrome with absence of hyperventilation. (23248353)	Inati A.... Saab R.	2013
12	Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. (23640545)	Sweatt J.D.	2013
13	Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. (22335494)	Steinbusch C.V.... Schrander-Stumpel C.T.	2013
14	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
15	Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. (24383606)	Navaratnarajah J.	2013
16	Pitt-Hopkins Syndrome. (22670138)	Peippo M.... Ignatius J.	2012
17	Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. (22777675)	Forrest M.... Blake D.J.	2012
18	Acetazolamide for severe apnea in Pitt-Hopkins syndrome. (22407847)	Verhulst S.L.... De Backer W.	2012
19	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
20	Development, cognition, and behaviour in Pitt-Hopkins syndrome. (22712893)	Van Balkom I.D.... Hennekam R.C.	2012
21	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
22	Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. (22678594)	Marangi G.... Zollino M.	2012
23	Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. (22378662)	Maini I.... Pisani F.	2012
24	Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. (22887345)	Takenouchi T.... Kosaki K.	2012
25	Pitt-Hopkins Syndrome (28520343)	Pratt V.... Rubinstein W.	2012
26	Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. (22045651)	Whalen S.... Giurgea I.	2012
27	The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. (21671391)	Marangi G.... Zollino M.	2011
28	Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. (22040220)	Takano K.... Schwartz C.E.	2011
29	Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. (21671383)	Lehalle D.... Clayton-Smith J.	2011
30	Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. (21544580)	Brockschmidt A.... Weber R.G.	2011
31	TCF4, schizophrenia, and Pitt-Hopkins Syndrome. (20421335)	Blake D.J.... Owen M.J.	2010
32	Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. (20205897)	Taddeucci G.... Tarantino E.	2010
33	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
34	Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. (19235238)	de Pontual L.... Amiel J.	2009
35	Hyperventilation and the Pitt-Hopkins syndrome. (18611190)	Ouvrier R.	2008
36	TCF4 deletions in Pitt-Hopkins Syndrome. (18781613)	Giurgea I.... Moncla A.	2008
37	Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. (18728071)	Zweier C.... Rauch A.	2008
38	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
39	Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (17436255)	Zweier C.... Rauch A.	2007
40	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
41	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
42	Pitt-Hopkins syndrome in two patients and further definition of the phenotype. (16531728)	Peippo M.M.... Ignatius J.	2006
43	Possible case of Pitt-Hopkins syndrome in sibs. (11568923)	Orrico A.... Hayek G.	2001
44	Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. (9475596)	Van Balkom I.D.... Hennekam R.C.	1998
45	Pitt-Hopkins Syndrome (22934316)	Pagon R.A.... Stephens K.	1993

Genes related to Pitt-Hopkins Syndrome

Sources:
⁵Clinvar, ¹³DISEASES, ²¹GeneCards, ²⁴GeneTests, ⁵²OMIM, ⁵⁴Orphanet, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

Genes related to Pitt-Hopkins Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	TCF4	Transcription Factor 4	1712.42	Molecular basis known ⁵² Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁴ Causative variation ⁷⁰ Genetic Tests ²⁴ DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	17436254, 16531728, 17436255 more 19235238, 22934316, 18728071
2	NRXN1	Neurexin 1	35.12	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
3	CNTNAP2	Contactin Associated Protein-Like 2	34.97	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
4	CHD6	Chromodomain Helicase DNA Binding Protein 6	34.19	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
5	SLC9A6	Solute Carrier Family 9 Member A6	24.66	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
6	CDKL5	Cyclin Dependent Kinase Like 5	24.51	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
7	LARP7	La Ribonucleoprotein Domain Family Member 7	24.48	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)

Variations for Pitt-Hopkins Syndrome

Sources:
⁵Clinvar, ⁶CNVD, ⁹dbSNP, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

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

⁷⁰ (show all 13)

id	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:

⁵ (show all 34)

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TCF4	NM_ 001083962.1(TCF4): c.1146+1G> A	SNV	Pathogenic	rs587784458	GRCh37	Chr 18, 52924545: 52924545
2	TCF4	NM_ 001083962.1(TCF4): c.1498G> T (p.Gly500Ter)	SNV	Pathogenic	rs587784459	GRCh37	Chr 18, 52899891: 52899891
3	TCF4	NM_ 001083962.1(TCF4): c.1741G> T (p.Val581Phe)	SNV	Likely pathogenic	rs587784460	GRCh38	Chr 18, 55228985: 55228985
4	TCF4	NM_ 001083962.1(TCF4): c.1840G> C (p.Ala614Pro)	SNV	Likely pathogenic	rs587784462	GRCh38	Chr 18, 55228886: 55228886
5	TCF4	NM_ 001083962.1(TCF4): c.415delC (p.Leu139Phefs)	deletion	Pathogenic	rs587784463	GRCh38	Chr 18, 55350958: 55350958
6	TCF4	NM_ 001083962.1(TCF4): c.469C> T (p.Arg157Ter)	SNV	Pathogenic	rs587784464	GRCh38	Chr 18, 55350904: 55350904
7	TCF4	NM_ 001083962.1(TCF4): c.655+1G> A	SNV	Pathogenic	rs587784465	GRCh38	Chr 18, 55279550: 55279550
8	TCF4	NM_ 001083962.1(TCF4): c.656-1G> C	SNV	Pathogenic	rs587784466	GRCh38	Chr 18, 55275753: 55275753
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=)	SNV	Likely pathogenic	rs587784469	GRCh37	Chr 18, 52928697: 52928697
11	TCF4	NM_ 001083962.1(TCF4): c.991-2A> G	SNV	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)	SNV	Pathogenic	rs727504175	GRCh37	Chr 18, 52942891: 52942891
15	TCF4	NM_ 001083962.1(TCF4): c.655+1G> T	SNV	Pathogenic	rs587784465	GRCh37	Chr 18, 52946781: 52946781
16	TCF4	NM_ 001083962.1(TCF4): c.1438C> T (p.Gln480Ter)	SNV	Pathogenic	rs727505396	GRCh38	Chr 18, 55234596: 55234596
17	TCF4	NM_ 001083962.1(TCF4): c.968C> T (p.Ala323Val)	SNV	Pathogenic	rs797045003	GRCh38	Chr 18, 55261488: 55261488
18	TCF4	NM_ 001083962.1(TCF4): c.1069+1G> T	SNV	Pathogenic	rs797045072	GRCh37	Chr 18, 52927179: 52927179
19	TCF4	NM_ 001083962.1(TCF4): c.1411C> T (p.Gln471Ter)	SNV	Pathogenic	rs797046033	GRCh37	Chr 18, 52901854: 52901854
20	TCF4	NM_ 001083962.1(TCF4): c.1871A> C (p.Gln624Pro)	SNV	Likely pathogenic	rs797046034	GRCh37	Chr 18, 52896086: 52896086
21	TCF4	NM_ 001083962.1(TCF4): c.1965dupC (p.Gly656Argfs)	duplication	Pathogenic/ Likely pathogenic	rs797046035	GRCh37	Chr 18, 52895507: 52895507
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: 52928709
24	TCF4	NM_ 001083962.1(TCF4): c.550-2A> G	SNV	Likely pathogenic	rs863224934	GRCh38	Chr 18, 55279658: 55279658
25	TCF4	NM_ 001243234.1(TCF4): c.656dupT (p.Leu219Phefs)	duplication	Likely pathogenic	rs1057519592	GRCh37	Chr 18, 52924556: 52924556
26	TCF4	NM_ 001083962.1(TCF4): c.1738C> T (p.Arg580Trp)	SNV	Pathogenic/ Likely pathogenic	rs121909120	GRCh37	Chr 18, 52896219: 52896219
27	TCF4	NM_ 001083962.1(TCF4): c.1739G> A (p.Arg580Gln)	SNV	Pathogenic	rs121909121	GRCh37	Chr 18, 52896218: 52896218
28	TCF4	NM_ 001083962.1(TCF4): c.1153C> T (p.Arg385Ter)	SNV	Pathogenic	rs121909122	GRCh37	Chr 18, 52921925: 52921925
29	TCF4	TCF4, IVS9AS, G-C, -1	SNV	Pathogenic
30	TCF4	NM_ 001083962.1(TCF4): c.1733G> C (p.Arg578Pro)	SNV	Pathogenic	rs121909123	GRCh37	Chr 18, 52896224: 52896224
31	TCF4	TCF4, 1-BP DEL, 908C	deletion	Pathogenic
32	TCF4	NM_ 001083962.1(TCF4): c.1086G> A (p.Trp362Ter)	SNV	Pathogenic	rs398123560	GRCh37	Chr 18, 52924606: 52924606
33	TCF4	NM_ 001083962.1(TCF4): c.1733G> A (p.Arg578His)	SNV	Pathogenic	rs121909123	GRCh37	Chr 18, 52896224: 52896224
34	TCF4	NM_ 001083962.1(TCF4): c.514_ 517delAAAG (p.Lys172Phefs)	deletion	Pathogenic	rs398123561	GRCh37	Chr 18, 53017622: 53017625

Copy number variations for Pitt-Hopkins Syndrome from CNVD:

⁶

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

Expression for genes affiliated with Pitt-Hopkins Syndrome

Sources:
¹⁸Gene 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:
³⁴KEGG, ⁵⁵PathCards
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	Cell adhesion molecules (CAMs)³⁴	9.6	CNTNAP2, NRXN1

GO Terms for genes affiliated with Pitt-Hopkins Syndrome

Sources:
¹⁹Gene Ontology
See all MalaCards sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	synapse	GO:0045202	8.6	CDKL5, NRXN1, SLC9A6

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

id	Name	GO ID	Score	Top Affiliating Genes
1	adult behavior	GO:0030534	10.2	CNTNAP2, NRXN1
2	learning	GO:0007612	10.1	CNTNAP2, NRXN1
3	social behavior	GO:0035176	10.0	CNTNAP2, NRXN1
4	vocal learning	GO:0042297	9.9	CNTNAP2, NRXN1
5	vocalization behavior	GO:0071625	9.6	CNTNAP2, NRXN1