PHS
MCID: PTT014
MIFTS: 49

Pitt-Hopkins Syndrome (PHS) malady

Neuronal category

Summaries for Pitt-Hopkins Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 phosphorylase kinase deficiency and muscle phosphorylase kinase deficiency, and has symptoms including microcephaly, deepset eyes/enophthalmos and anteverted nares/nostrils. 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. 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:47 610954

GeneReviews summary for pitt-hopkins

Aliases & Classifications for Pitt-Hopkins Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
pitt-hopkins syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pitt-hopkins syndrome 19 43 21 47 49 61
pitt hopkins syndrome 43 20 22
mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea 43
deficiency of phosphorylase kinase 61
phosphorylase b kinase deficiency 19
glycogen storage disease, type ix 61
glycogen storage disease type ix 19
pallister-hall syndrome 61
phk deficiency 19
gsdix 19
pths 21
phs 21


External Ids:

OMIM47 610954
MESH via Orphanet36 C537403
UMLS via Orphanet62 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 337)
idRelated DiseaseScoreTop Affiliating Genes
1phosphorylase kinase deficiency10.9
2muscle phosphorylase kinase deficiency10.6
3primary hyperparathyroidism10.6
4phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.6
5hypercalcemia10.6
6n syndrome10.6
7mental retardation10.6
8acute leukemia10.6
9hypoparathyroidism10.6
10osteoporosis10.5
11glycogen storage disease i10.5
12renal osteodystrophy10.5
13gastroesophageal reflux disease10.5
14chronic myeloid leukemia10.5
15chondrodysplasia10.4
16polydactyly10.4
17imperforate anus10.4
18mckusick-kaufman syndrome10.4
19hypothalamic hamartomas10.4
20pallister w syndrome10.4
21hypoxia10.4
22duodenogastric reflux10.4
23t-cell leukemia10.4
24glycogen storage disease viii10.4
25glycogen storage disease v10.4
26hypoglycemia10.4
27glycogen storage disease, type ixa110.4
28muscle glycogenosis10.4
29parathyroid carcinoma10.3
30adenoma10.3
31cystic fibrosis10.3
32jansen's metaphyseal chondrodysplasia10.3
33uremia10.3
34hypoparathyroidism familial isolated10.3
35tooth disease10.3
36char syndrome10.3
37autonomic dysfunction10.3
38fanconi syndrome10.3
39hepatorenal syndrome10.3
40pseudohypoparathyroidism type 1b10.3
41smith-lemli-opitz syndrome10.3
42greig cephalopolysyndactyly syndrome10.3
43renal agenesis10.3
44hydrolethalus syndrome10.3
45anus disease10.3
46micro syndrome10.3
47diencephalic syndrome10.3
48bacterial vaginosis10.2
49gastric ulcer10.2
50hypophosphatemia10.2

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



Diseases related to pitt-hopkins syndrome

Clinical Features for Pitt-Hopkins Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

610954

Clinical synopsis from OMIM:

610954

Symptoms:

49 (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

Drugs & Therapeutics for Pitt-Hopkins Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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
See all sources

Genetic tests related to Pitt-Hopkins Syndrome:

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

Anatomical Context for Pitt-Hopkins Syndrome

Animal Models for Pitt-Hopkins Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Pitt-Hopkins Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.1TCF7L2, TCF4, CNTNAP2, NRXN1
2MP:00053867.7TCF7L2, CNTNAP2, CHD6, NRXN1

Publications for Pitt-Hopkins Syndrome

Sources:
51PubMed
See all sources

Articles related to Pitt-Hopkins Syndrome:

(show all 34)
idTitleAuthorsYear
1
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. (23640545)
2013
2
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. (22335494)
2013
3
A case of Pitt-Hopkins syndrome with absence of hyperventilation. (23248353)
2013
4
263.4A kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. (23528641)
2013
5
Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. (24383606)
2013
6
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. (22887345)
2012
7
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)
2012
8
Acetazolamide for severe apnea in Pitt-Hopkins syndrome. (22407847)
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)
2012
10
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. (22378662)
2012
11
Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. (22777675)
2012
12
Pitt-Hopkins Syndrome. (22670138)
2012
13
Development, cognition, and behaviour in Pitt-Hopkins syndrome. (22712893)
2012
14
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. (22678594)
2012
15
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. (22045651)
2012
16
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. (22040220)
2011
17
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. (21671383)
2011
18
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. (21671391)
2011
19
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. (21544580)
2011
20
TCF4, schizophrenia, and Pitt-Hopkins Syndrome. (20421335)
2010
21
Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. (20205897)
2010
22
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. (19938247)
2009
23
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. (19235238)
2009
24
Hyperventilation and the Pitt-Hopkins syndrome. (18611190)
2008
25
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. (18627065)
2008
26
TCF4 deletions in Pitt-Hopkins Syndrome. (18781613)
2008
27
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. (18728071)
2008
28
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. (17478476)
2007
29
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (17436255)
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)
2007
31
Pitt-Hopkins syndrome in two patients and further definition of the phenotype. (16531728)
2006
32
Possible case of Pitt-Hopkins syndrome in sibs. (11568923)
2001
33
Mental retardation, &quot;coarse&quot; face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. (9475596)
1998
34
Pitt-Hopkins Syndrome (22934316)
1993

Genetic Variations for Pitt-Hopkins Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Pitt-Hopkins Syndrome:

63 (show all 13)
id Symbol AA change Variation SNP ID
1TCF4p.Arg576GlnVAR_034704
2TCF4p.Arg576TrpVAR_034705
3TCF4p.Asp535GlyVAR_058632
4TCF4p.Arg572GlyVAR_058633
5TCF4p.Ala610ValVAR_058634
6TCF4p.Gly358ValVAR_066839
7TCF4p.Arg574ProVAR_066840
8TCF4p.Arg578HisVAR_066841
9TCF4p.Arg565TrpVAR_066970
10TCF4p.Arg572GlnVAR_066971
11TCF4p.Arg574HisVAR_066972
12TCF4p.Arg578ProVAR_066973
13TCF4p.Ala583ProVAR_066974

Expression for genes affiliated with Pitt-Hopkins Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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:
52QIAGEN, 30KEGG, 53R&D Systems, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Pitt-Hopkins Syndrome

Sources:
45Novoseek
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Compounds related to Pitt-Hopkins Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mononucleotide459.4TCF7L2, TCF4

GO Terms for genes affiliated with Pitt-Hopkins Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Pitt-Hopkins Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.4TCF7L2, TCF4

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

idNameGO IDScoreTop Affiliating Genes
1brain developmentGO:0074209.3TCF7L2, CNTNAP2
2vocalization behaviorGO:0716259.2CNTNAP2, NRXN1
3face morphogenesisGO:0603259.0TCF7L2, NRXN1
4social behaviorGO:0351769.0NRXN1, CNTNAP2
5learningGO:0076128.8CNTNAP2, NRXN1

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:0009789.4TCF7L2, TCF4

Products for genes affiliated with Pitt-Hopkins Syndrome

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Sources for Pitt-Hopkins Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet