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

Summaries for Pitt-Hopkins Syndrome

Sources:
⁴²NIH Rare Diseases, ²¹Genetics Home Reference, ⁴⁶OMIM, ¹⁹GeneReviews, ³²MalaCards
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NIH Rare Diseases:⁴² Pitt-hopkins syndrome is a genetic condition characterized by intellectual disability, a wide mouth, other distinctive facial features, and abnormal breathing (i.e., periodic hyperventilation followed by apnea). it is believed that the syndrome is associated with mutations in the tcf4 transcription factor gene. the majority of cases reported thus far are believed to be sporadic; therefore, most of the individuals who have pitt-hopkins syndrome do not have any family members with the condition. treatment is symptomatic. last updated: 11/26/2013

MalaCards: Pitt-Hopkins Syndrome, also known as pitt hopkins syndrome, is related to schizophrenia and pallister-hall syndrome, and has symptoms including failure to thrive/difficulties for feeding in infancy/growth delay, myopia and tapered fingers. An important gene associated with Pitt-Hopkins Syndrome is TCF4 (transcription factor 4), and among its related pathways are WNT Signaling and Wnt signaling pathway. The compound mononucleotide have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and eye, and related mouse phenotypes are nervous system and behavior/neurological.

Genetics Home Reference:²¹ Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay which range from moderate to severe, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.

Description from OMIM:⁴⁶ 610954

GeneReviews summary for pitt-hopkins

Aliases & Classifications for Pitt-Hopkins Syndrome

Sources:
⁶⁰UMLS, ¹⁹GeneReviews, ⁴²NIH Rare Diseases, ²¹Genetics Home Reference, ⁴⁶OMIM, ⁴⁸Orphanet, ²⁰GeneTests, ²²GTR, ²⁶ICD10 via Orphanet, ³⁵MESH via Orphanet, ⁶¹UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases

ICD10: ²⁶

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

Characteristics (Orphanet epidemiological data):

⁴⁸

pitt-hopkins syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy

Aliases & Descriptions:

pitt-hopkins syndrome ¹⁹ ⁴² ²¹ ⁴⁶ ⁴⁸ ⁶⁰

pitt hopkins syndrome ⁴² ²⁰ ²²

mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea ⁴²

deficiency of phosphorylase kinase ⁶⁰

glycogen storage disease, type ix ⁶⁰

pallister-hall syndrome ⁶⁰

pths ²¹

phs ²¹

External Ids:

ICD10 via Orphanet²⁶ Q87.0

OMIM⁴⁶ 610954

MESH via Orphanet³⁵ C537403

UMLS via Orphanet⁶¹ C1970431

Related Diseases for Pitt-Hopkins Syndrome

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

Diseases in the Pitt-Hopkins Syndrome family:

Pitt-Hopkins-Like Syndrome	Pitt-Hopkins-Like Syndrome 2
Pitt-Hopkins-Like Syndrome 1

Diseases related to Pitt-Hopkins Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50) (show all 419)

id	Related Disease	Score	Top Affiliating Genes
1	schizophrenia	30.4	NRXN1
2	pallister-hall syndrome	11.2
3	phosphorylase kinase deficiency	10.8
4	leukemia	10.7
5	glycogen storage disease ix	10.7
6	glycogen storage disease	10.7
7	hyperparathyroidism	10.6
8	primary hyperparathyroidism	10.6
9	acute leukemia	10.5
10	hypercalcemia	10.5
11	osteoporosis	10.5
12	pseudohypoparathyroidism	10.5
13	glycogen storage disease due to phosphorylase kinase deficiency	10.5
14	esophagitis	10.5
15	myeloid leukemia	10.5
16	renal osteodystrophy	10.4
17	lymphoblastic leukemia	10.4
18	gastroesophageal reflux disease	10.4
19	chronic myeloid leukemia	10.4
20	polydactyly	10.4
21	imperforate anus	10.4
22	vaginitis	10.4
23	jansen's metaphyseal chondrodysplasia	10.4
24	duodenogastric reflux	10.3
25	glycogen storage disease viii	10.3
26	hypoglycemia	10.3
27	phosphorylase kinase deficiency of liver and muscle, autosomal recessive	10.3
28	glycogen storage disease, type ixa1	10.3
29	muscle glycogenosis	10.3
30	parathyroid adenoma	10.3
31	cystic fibrosis	10.3
32	melanoma	10.3
33	pancreatitis	10.3
34	parathyroid carcinoma	10.3
35	adenoma	10.3
36	charcot-marie-tooth disease type 2	10.3
37	neuronitis	10.3
38	charcot-marie-tooth disease	10.3
39	intellectual disability	10.3
40	tooth disease	10.3
41	esophageal disease	10.3
42	hepatitis	10.3
43	smith-lemli-opitz syndrome	10.3
44	greig cephalopolysyndactyly syndrome	10.3
45	renal agenesis	10.3
46	hypoparathyroidism	10.3
47	hydrolethalus syndrome	10.3
48	anus disease	10.3
49	epilepsy syndrome	10.3
50	hypopituitarism	10.3

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

Clinical Features for Pitt-Hopkins Syndrome

Sources:
⁴⁶OMIM, ⁴⁸Orphanet
See all sources

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
autosomal dominant inheritance
intellectual deficit/mental/psychomotor retardation/learning disability
speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia

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
microcephaly

Drugs & Therapeutics for Pitt-Hopkins Syndrome

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials
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Approved drugs:

Search CenterWatch for Pitt-Hopkins Syndrome

Drug clinical trials:

Search ClinicalTrials for Pitt-Hopkins Syndrome

Search NIH Clinical Center for Pitt-Hopkins Syndrome

Search CenterWatch for Pitt-Hopkins Syndrome

Genetic Tests for Pitt-Hopkins Syndrome

Sources:
²⁰GeneTests, ²²GTR
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Genetic tests related to Pitt-Hopkins Syndrome:

id	Genetic test	Affiliating Genes
1	Pitt-Hopkins Syndrome²⁰ ²²	TCF4

Anatomical Context for Pitt-Hopkins Syndrome

Sources:
³²MalaCards
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MalaCards organs/tissues related to Pitt-Hopkins Syndrome:

³²

Testes, Skin, Eye

Animal Models for Pitt-Hopkins Syndrome or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Pitt-Hopkins Syndrome:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system phenotype	MP:0003631	8.1	TCF7L2, TCF4, CNTNAP2, NRXN1
2	behavior/neurological phenotype	MP:0005386	7.7	TCF7L2, CNTNAP2, CHD6, NRXN1

Publications for Pitt-Hopkins Syndrome

Sources:
⁵⁰PubMed
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Articles related to Pitt-Hopkins Syndrome:

(show all 34)

id	Title	Authors	Year
1	Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. (23640545)	Sweatt J.D.	2013
2	Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. (22335494)	Steinbusch C.V.... Schrander-Stumpel C.T.	2013
3	A case of Pitt-Hopkins syndrome with absence of hyperventilation. (23248353)	Inati A.... Saab R.	2013
4	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
5	Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. (24383606)	Navaratnarajah J.	2013
6	Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. (22887345)	Takenouchi T.... Kosaki K.	2012
7	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
8	Acetazolamide for severe apnea in Pitt-Hopkins syndrome. (22407847)	Verhulst S.L.... De Backer W.	2012
9	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
10	Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. (22378662)	Maini I.... Pisani F.	2012
11	Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. (22777675)	Forrest M.... Blake D.J.	2012
12	Pitt-Hopkins Syndrome. (22670138)	Peippo M.... Ignatius J.	2012
13	Development, cognition, and behaviour in Pitt-Hopkins syndrome. (22712893)	Van Balkom I.D.... Hennekam R.C.	2012
14	Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. (22678594)	Marangi G.... Zollino M.	2012
15	Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. (22045651)	Whalen S.... Giurgea I.	2012
16	Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. (22040220)	Takano K.... Schwartz C.E.	2011
17	Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. (21671383)	Lehalle D.... Clayton-Smith J.	2011
18	The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. (21671391)	Marangi G.... Zollino M.	2011
19	Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. (21544580)	Brockschmidt A.... Weber R.G.	2011
20	TCF4, schizophrenia, and Pitt-Hopkins Syndrome. (20421335)	Blake D.J.... Owen M.J.	2010
21	Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. (20205897)	Taddeucci G.... Tarantino E.	2010
22	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
23	Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. (19235238)	de Pontual L.... Amiel J.	2009
24	Hyperventilation and the Pitt-Hopkins syndrome. (18611190)	Ouvrier R.	2008
25	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
26	TCF4 deletions in Pitt-Hopkins Syndrome. (18781613)	Giurgea I.... Moncla A.	2008
27	Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. (18728071)	Zweier C.... Rauch A.	2008
28	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
29	Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (17436255)	Zweier C.... Rauch A.	2007
30	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
31	Pitt-Hopkins syndrome in two patients and further definition of the phenotype. (16531728)	Peippo M.M.... Ignatius J.	2006
32	Possible case of Pitt-Hopkins syndrome in sibs. (11568923)	Orrico A.... Hayek G.	2001
33	Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. (9475596)	Van Balkom I.D.... Hennekam R.C.	1998
34	Pitt-Hopkins Syndrome (22934316)	Pagon R.A.... Stephens K.	1993

Genes related to Pitt-Hopkins Syndrome

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁶OMIM, ⁴⁸Orphanet, ⁶²UniProtKB/Swiss-Prot, ²⁰GeneTests
See all sources

Genes related to Pitt-Hopkins Syndrome:

id	Symbol	Description	Score	Implication
1	TCF4	transcription factor 4	22.63	Molecular basis known ⁴⁶ Causative germline mutation ⁴⁸ Causative variation ⁶² Genetic Tests ²⁰ GeneCards inferred : Publications, Disorders, Summaries (show sections)
2	CHD6	chromodomain helicase DNA binding protein 6	18.23	GeneCards inferred : Publications, Disorders (show sections)
3	TCF7L2	transcription factor 7-like 2 (T-cell specific, HMG-box)	14.23	GeneCards inferred : Publications, Disorders (show sections)
4	NRXN1	neurexin 1	10.23	GeneCards inferred : Publications, Disorders (show sections)
5	CNTNAP2	contactin associated protein-like 2	6.23	GeneCards inferred : Publications, Disorders (show sections)

Products for genes related to Pitt-Hopkins Syndrome disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	4	4	5
2	LSBio	-	-	5

Genetic Variations for Pitt-Hopkins Syndrome

Sources:
⁶²UniProtKB/Swiss-Prot
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Genetic disease variations for Pitt-Hopkins Syndrome:

⁶² (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

Expression for genes affiliated with Pitt-Hopkins Syndrome

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pitt-Hopkins Syndrome

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

Pathways for genes affiliated with Pitt-Hopkins Syndrome

Sources:
⁵¹QIAGEN, ²⁹KEGG, ⁵²R&D Systems, ³⁷NCBI BioSystems Database
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Pathways related to Pitt-Hopkins Syndrome according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	WNT Signaling⁵¹	9.4	TCF7L2, TCF4
2	Wnt signaling pathway²⁹ Hide members Wnt Signaling Pathway⁵² Wnt Signaling Pathway NetPath³⁷	9.4	TCF7L2, TCF4
3	Human Embryonic Stem Cell Pluripotency⁵¹ Hide members Factors Promoting Cardiogenesis in Vertebrates⁵¹	9.4	TCF4, TCF7L2
4	Regulation of Wnt-mediated beta catenin signaling and target gene transcription³⁷	9.4	TCF7L2, TCF4
5	Cell adhesion molecules (CAMs)²⁹	9.1	CNTNAP2, NRXN1

Compounds for genes affiliated with Pitt-Hopkins Syndrome

Sources:
⁴⁴Novoseek
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Compounds related to Pitt-Hopkins Syndrome according to GeneCards/GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	mononucleotide⁴⁴	9.4	TCF7L2, TCF4

GO Terms for genes affiliated with Pitt-Hopkins Syndrome

Sources:
¹⁶Gene Ontology
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Cellular components related to Pitt-Hopkins Syndrome according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor complex	GO:005667	9.4	TCF7L2, TCF4

Biological processes related to Pitt-Hopkins Syndrome according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	brain development	GO:007420	9.3	TCF7L2, CNTNAP2
2	vocalization behavior	GO:071625	9.2	CNTNAP2, NRXN1
3	face morphogenesis	GO:060325	9.0	TCF7L2, NRXN1
4	social behavior	GO:035176	9.0	NRXN1, CNTNAP2
5	learning	GO:007612	8.8	CNTNAP2, NRXN1

Molecular functions related to Pitt-Hopkins Syndrome according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:000978	9.4	TCF7L2, TCF4

Products for genes affiliated with Pitt-Hopkins Syndrome

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Sources for Pitt-Hopkins Syndrome

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⁵CenterWatch

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¹⁵Gene Expression Omnibus DataSets

¹⁶Gene Ontology

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²¹Genetics Home Reference

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²³HGMD

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²⁵ICD10

²⁶ICD10 via Orphanet

²⁷ICD9CM

²⁸IUPHAR

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³⁰LifeMap Discovery™

³¹LifeSpan BioSciences, Inc.

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

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⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

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⁴⁶OMIM

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⁴⁸Orphanet

⁴⁹PharmGKB

⁵⁰PubMed

⁵¹QIAGEN

⁵²R&D Systems

⁵³Reactome

⁵⁴SABiosciences

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸Thomson Reuters

⁵⁹Tocris Bioscience

⁶⁰UMLS

⁶¹UMLS via Orphanet

⁶²UniProtKB/Swiss-Prot

⁶³Wikipedia

PHS MCID: PTT014 MIFTS: 59	Pitt-Hopkins Syndrome (PHS) malady Neuronal diseases category
24 symptoms, 5 genes, 3 tissues, 419 related diseases, clinical trials, genetic tests.

Pitt-Hopkins Syndrome (PHS) malady