MCID: PTT014
MIFTS: 55

Pitt-Hopkins Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Aliases & Classifications for Pitt-Hopkins Syndrome

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Sources:
65UMLS, 49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 22GeneTests, 24GTR, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Pitt-Hopkins Syndrome:

Name: Pitt-Hopkins Syndrome 49 11 21 45 23 51 65 67
Pitt Hopkins Syndrome 45 22 24
Pths 23 67
Mental Retardation, 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


Classifications:



Characteristics (Orphanet epidemiological data):

51
pitt-hopkins syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 610954
Orphanet51 2896
UMLS via Orphanet66 C1970431
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C537403
MedGen34 C1970431

Summaries for Pitt-Hopkins Syndrome

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NIH Rare Diseases:45 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 based summary: Pitt-Hopkins Syndrome, also known as pitt hopkins syndrome, is related to schizophrenia and leukemia, 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 Cell adhesion molecules (CAMs). Affiliated tissues include brain, testes and skin, and related mouse phenotype taste/olfaction.

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...

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.

GeneReviews summary for pitt-hopkins

Related Diseases for Pitt-Hopkins Syndrome

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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 1020)
idRelated DiseaseScoreTop Affiliating Genes
1schizophrenia30.1CNTNAP2, NRXN1, TCF4
2leukemia10.9
3hyperparathyroidism10.7
4osteoporosis10.7
5lymphoblastic leukemia10.7
6myeloid leukemia10.7
7hypoparathyroidism10.6
8primary hyperparathyroidism10.6
9gastroesophageal reflux10.6
10parathyroid gland disease10.6
11bone marrow cancer10.6
12hypercalcemia10.6
13aplastic anemia10.6
14acute leukemia10.6
15acute lymphocytic leukemia10.6
16chronic leukemia10.6
17chronic monocytic leukemia10.6
18leukemia, chronic myeloid, somatic10.6
19chronic myeloproliferative disease10.6
20chronic myelocytic leukemia10.6
21marchiafava bignami disease10.6
22chromosomal disease10.6
23lymphoid leukemia10.6
24leukemia, acute lymphoblastic10.5
25acute lymphoblastic leukemia, childhood10.5
26adult acute lymphocytic leukemia10.5
27hypersensitivity reaction type iv disease10.5
28lymphatic system cancer10.5
29lymphatic system disease10.5
30adult lymphoma10.5
31lymphatic neoplasm10.5
32nervous system cancer10.5
33burkitt lymphoma10.5
34lymphosarcoma10.5
35lymphoblastic lymphoma10.5
36precursor lymphoblastic lymphoma/leukemia10.5
37acute non lymphoblastic leukemia10.5
38pseudohypoparathyroidism10.5
39leukemia, acute lymphoblastic 210.5
40esophagitis10.5
41renal osteodystrophy10.5
42calcium metabolism disease10.5
43pitt-hopkins-like syndrome 210.5
44cortical dysplasia-focal epilepsy syndrome10.5
45stomach disease10.5
46pseudohypoparathyroidism, type ib10.5
47pulmonary hypertension10.5
48gastrointestinal system disease10.5
49ewing sarcoma10.4
50neuroectodermal tumor10.4

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



Diseases related to pitt-hopkins syndrome

Symptoms for Pitt-Hopkins Syndrome

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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 59)
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 autosomal dominant inheritance HP:0000006
22 cryptorchidism HP:0000028
23 micropenis HP:0000054
24 open mouth HP:0000194
25 microcephaly HP:0000252
26 coarse facial features HP:0000280
27 full cheeks HP:0000293
28 short philtrum HP:0000322
29 narrow forehead HP:0000341
30 cupped ear HP:0000378
31 wide nasal bridge HP:0000431
32 short neck HP:0000470
33 astigmatism HP:0000483
34 strabismus HP:0000486
35 deeply set eye HP:0000490
36 myopia HP:0000545
37 upslanted palpebral fissure HP:0000582
38 widely spaced teeth HP:0000687
39 aggressive behavior HP:0000718
40 single transverse palmar crease HP:0000954
41 tapered finger HP:0001182
42 clubbing HP:0001217
43 seizures HP:0001250
44 muscular hypotonia HP:0001252
45 motor delay HP:0001270
46 encephalopathy HP:0001298
47 absent speech HP:0001344
48 pes planus HP:0001763
49 narrow foot HP:0001786
50 constipation HP:0002019
51 gastroesophageal reflux HP:0002020
52 gait ataxia HP:0002066
53 hypoplasia of the corpus callosum HP:0002079
54 incoordination HP:0002311
55 dysautonomia HP:0002459
56 intermittent hyperventilation HP:0004879
57 intellectual disability, progressive HP:0006887
58 intellectual disability, severe HP:0010864
59 clinodactyly HP:0030084

Drugs & Therapeutics for Pitt-Hopkins Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pitt-Hopkins Syndrome

Genetic Tests for Pitt-Hopkins Syndrome

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Genetic tests related to Pitt-Hopkins Syndrome:

id Genetic test Affiliating Genes
1 Pitt-Hopkins Syndrome22 24 TCF4

Anatomical Context for Pitt-Hopkins Syndrome

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MalaCards organs/tissues related to Pitt-Hopkins Syndrome:

33
Brain, Testes, Skin, Eye

Animal Models for Pitt-Hopkins Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Pitt-Hopkins Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.4CNTNAP2, GLI3

Publications for Pitt-Hopkins Syndrome

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Articles related to Pitt-Hopkins Syndrome:

(show all 35)
idTitleAuthorsYear
1
Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome. (25900839)
2015
2
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. (23640545)
2013
3
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. (22335494)
2013
4
A case of Pitt-Hopkins syndrome with absence of hyperventilation. (23248353)
2013
5
263.4A kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. (23528641)
2013
6
Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. (24383606)
2013
7
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. (22887345)
2012
8
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)
2012
9
Acetazolamide for severe apnea in Pitt-Hopkins syndrome. (22407847)
2012
10
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
11
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. (22378662)
2012
12
Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. (22777675)
2012
13
Pitt-Hopkins Syndrome. (22670138)
2012
14
Development, cognition, and behaviour in Pitt-Hopkins syndrome. (22712893)
2012
15
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. (22678594)
2012
16
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. (22045651)
2012
17
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. (22040220)
2011
18
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. (21671383)
2011
19
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. (21671391)
2011
20
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. (21544580)
2011
21
TCF4, schizophrenia, and Pitt-Hopkins Syndrome. (20421335)
2010
22
Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. (20205897)
2010
23
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. (19938247)
2009
24
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. (19235238)
2009
25
Hyperventilation and the Pitt-Hopkins syndrome. (18611190)
2008
26
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. (18627065)
2008
27
TCF4 deletions in Pitt-Hopkins Syndrome. (18781613)
2008
28
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. (18728071)
2008
29
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. (17478476)
2007
30
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (17436255)
2007
31
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
32
Pitt-Hopkins syndrome in two patients and further definition of the phenotype. (16531728)
2006
33
Possible case of Pitt-Hopkins syndrome in sibs. (11568923)
2001
34
Mental retardation, &quot;coarse&quot; face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. (9475596)
1998
35
Pitt-Hopkins Syndrome (22934316)
1993

Variations for Pitt-Hopkins Syndrome

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

67 (show all 13)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Pitt-Hopkins Syndrome:

5 (show all 63)
id Gene Variation Type Significance SNP ID Assembly Location
1GLI3NM_000168.5(GLI3): c.2023delG (p.Glu675Serfs)deletionPathogenicrs116840744GRCh37Chr 7, 42012016: 42012016
2GLI3NM_000168.5(GLI3): c.2012delG (p.Gly671Glufs)deletionPathogenicrs116840743GRCh37Chr 7, 42012027: 42012027
3GLI3NM_000168.5(GLI3): c.3439G> T (p.Glu1147Ter)single nucleotide variantPathogenicrs116840768GRCh37Chr 7, 42005232: 42005232
4GLI3NM_000168.5(GLI3): c.2770_2771insNC_012920.1: g.12243..12314insertionPathogenicGRCh37Chr 7, 42005900: 42005901
5GLI3NM_000168.5(GLI3): c.2188_2206del19 (p.Leu730Valfs)deletionPathogenicrs116840754GRCh37Chr 7, 42007419: 42007437
6TCF4NM_001083962.1(TCF4): c.1146+1G> Asingle nucleotide variantPathogenicrs587784458GRCh37Chr 18, 52924545: 52924545
7TCF4NM_001083962.1(TCF4): c.1498G> T (p.Gly500Ter)single nucleotide variantPathogenicrs587784459GRCh37Chr 18, 52899891: 52899891
8TCF4NM_001083962.1(TCF4): c.1741G> T (p.Val581Phe)single nucleotide variantLikely pathogenicrs587784460GRCh38Chr 18, 55228985: 55228985
9TCF4NM_001083962.1(TCF4): c.1840G> C (p.Ala614Pro)single nucleotide variantLikely pathogenicrs587784462GRCh37Chr 18, 52896117: 52896117
10TCF4NM_001083962.1(TCF4): c.415delC (p.Leu139Phefs)deletionPathogenicrs587784463GRCh37Chr 18, 53018189: 53018189
11TCF4NM_001083962.1(TCF4): c.469C> T (p.Arg157Ter)single nucleotide variantPathogenicrs587784464GRCh37Chr 18, 53018135: 53018135
12TCF4NM_001083962.1(TCF4): c.655+1G> Asingle nucleotide variantPathogenicrs587784465GRCh38Chr 18, 55279550: 55279550
13TCF4NM_001083962.1(TCF4): c.656-1G> Csingle nucleotide variantPathogenicrs587784466GRCh38Chr 18, 55275753: 55275753
14TCF4NM_001083962.1(TCF4): c.791delG (p.Ser264Thrfs)deletionPathogenicrs587784468GRCh37Chr 18, 52937193: 52937193
15TCF4NM_001083962.1(TCF4): c.990G> A (p.Ser330=)single nucleotide variantLikely pathogenicrs587784469GRCh37Chr 18, 52928697: 52928697
16TCF4NM_001083962.1(TCF4): c.991-2A> Gsingle nucleotide variantPathogenicrs587784470GRCh37Chr 18, 52927260: 52927260
17TCF4NM_001083962.1(TCF4): c.1414delG (p.Val472Phefs)deletionPathogenicrs727504174GRCh37Chr 18, 52901851: 52901851
18TCF4NM_001083962.1(TCF4): c.1357dupA (p.Thr453Asnfs)duplicationPathogenicrs786200992GRCh37Chr 18, 52901908: 52901908
19TCF4NM_001083962.1(TCF4): c.748C> T (p.Gln250Ter)single nucleotide variantPathogenicrs727504175GRCh37Chr 18, 52942891: 52942891
20TCF4NM_001083962.1(TCF4): c.655+1G> Tsingle nucleotide variantPathogenicrs587784465GRCh37Chr 18, 52946781: 52946781
21TCF4NM_001083962.1(TCF4): c.1438C> T (p.Gln480Ter)single nucleotide variantPathogenicrs727505396GRCh38Chr 18, 55234596: 55234596
22TCF4NM_001083962.1(TCF4): c.968C> T (p.Ala323Val)single nucleotide variantPathogenicrs797045003GRCh38Chr 18, 55261488: 55261488
23TCF4NM_001083962.1(TCF4): c.1069+1G> Tsingle nucleotide variantPathogenicrs797045072GRCh38Chr 18, 55259948: 55259948
24TCF4NM_001083962.1(TCF4): c.1411C> T (p.Gln471Ter)single nucleotide variantPathogenicrs797046033GRCh37Chr 18, 52901854: 52901854
25TCF4NM_001083962.1(TCF4): c.1871A> C (p.Gln624Pro)single nucleotide variantLikely pathogenicrs797046034GRCh37Chr 18, 52896086: 52896086
26TCF4NM_001083962.1(TCF4): c.1965dupC (p.Gly656Argfs)duplicationLikely pathogenic, Pathogenicrs797046035GRCh38Chr 18, 55228276: 55228276
27TCF4NM_001083962.1(TCF4): c.655+2_655+3insGTinsertionPathogenicrs797046036GRCh37Chr 18, 52946779: 52946780
28TCF4NM_003199.2(TCF4): c.978delAinsGG (p.Ala327Glyfs)indelPathogenicGRCh37Chr 18, 52928709: 52928710
29TCF4NM_001083962.1(TCF4): c.550-2A> Gsingle nucleotide variantLikely pathogenicGRCh38Chr 18, 55279658: 55279658
30GLI3NM_000168.5(GLI3): c.1998_2001delCCGA (p.Pro668Leufs)deletionPathogenicrs116840742GRCh37Chr 7, 42012038: 42012041
31GLI3NM_000168.5(GLI3): c.2032delG (p.Asp678Thrfs)deletionPathogenicrs116840745GRCh37Chr 7, 42012007: 42012007
32GLI3NM_000168.5(GLI3): c.2058_2059delGGinsAT (p.Glu687Ter)indelPathogenicrs116840746GRCh37Chr 7, 42011980: 42011981
33GLI3NM_000168.5(GLI3): c.2062G> T (p.Glu688Ter)single nucleotide variantPathogenicrs116840747GRCh37Chr 7, 42011977: 42011977
34GLI3NM_000168.5(GLI3): c.2110C> T (p.Gln704Ter)single nucleotide variantPathogenicrs116840748GRCh37Chr 7, 42007515: 42007515
35GLI3NM_000168.5(GLI3): c.2139delC (p.Cys713Terfs)deletionPathogenicrs116840749GRCh37Chr 7, 42007486: 42007486
36GLI3NM_000168.5(GLI3): c.2146C> T (p.Gln716Ter)single nucleotide variantPathogenicrs116840750GRCh37Chr 7, 42007479: 42007479
37GLI3NM_000168.5(GLI3): c.2149C> T (p.Gln717Ter)single nucleotide variantPathogenicrs116840751GRCh37Chr 7, 42007476: 42007476
38GLI3NM_000168.5(GLI3): c.2157delC (p.Ile720Serfs)deletionPathogenicrs116840752GRCh37Chr 7, 42007468: 42007468
39GLI3NM_000168.5(GLI3): c.2172dupC (p.Asn725Glnfs)duplicationPathogenicrs116840753GRCh37Chr 7, 42007453: 42007453
40GLI3NM_000168.5(GLI3): c.2197_2198delAC (p.Thr733Argfs)deletionPathogenicrs116840755GRCh37Chr 7, 42007427: 42007428
41GLI3NM_000168.5(GLI3): c.2346_2356delGCTAAAACAAG (p.Arg782Serfs)deletionPathogenicrs116840756GRCh37Chr 7, 42007269: 42007279
42GLI3NM_000168.5(GLI3): c.2351_2355delAACAA (p.Lys784Serfs)deletionPathogenicrs116840757GRCh37Chr 7, 42007270: 42007274
43GLI3NM_000168.5(GLI3): c.2431+1G> Asingle nucleotide variantPathogenicrs116840758GRCh37Chr 7, 42007193: 42007193
44GLI3NM_000168.5(GLI3): c.2483delC (p.Pro828Argfs)deletionPathogenicrs116840759GRCh37Chr 7, 42006188: 42006188
45GLI3NM_000168.5(GLI3): c.2567C> A (p.Ser856Ter)single nucleotide variantPathogenicrs116840760GRCh37Chr 7, 42006104: 42006104
46GLI3NM_000168.5(GLI3): c.2620delC (p.Arg874Alafs)deletionPathogenicrs116840761GRCh37Chr 7, 42006051: 42006051
47GLI3NM_000168.5(GLI3): c.2628delC (p.Ser877Alafs)deletionPathogenicrs116840762GRCh37Chr 7, 42006043: 42006043
48GLI3NM_000168.5(GLI3): c.2799C> G (p.Tyr933Ter)single nucleotide variantPathogenicrs116840763GRCh37Chr 7, 42005872: 42005872
49GLI3NM_000168.5(GLI3): c.2935delT (p.Cys979Alafs)deletionPathogenicrs116840764GRCh37Chr 7, 42005736: 42005736
50GLI3NM_000168.5(GLI3): c.3004delG (p.Val1002Terfs)deletionPathogenicrs116840765GRCh37Chr 7, 42005667: 42005667
51GLI3NM_000168.5(GLI3): c.3324C> G (p.Tyr1108Ter)single nucleotide variantPathogenicrs116840766GRCh37Chr 7, 42005347: 42005347
52GLI3NM_000168.5(GLI3): c.3386_3387delTT (p.Phe1129Terfs)deletionPathogenicrs281864935GRCh37Chr 7, 42005284: 42005285
53GLI3NM_000168.5(GLI3): c.3456G> T (p.Glu1152Asp)single nucleotide variantPathogenicrs116840769GRCh37Chr 7, 42005215: 42005215
54GLI3NM_000168.5(GLI3): c.3481C> T (p.Gln1161Ter)single nucleotide variantPathogenicrs116840770GRCh37Chr 7, 42005190: 42005190
55TCF4NM_001083962.1(TCF4): c.1738C> T (p.Arg580Trp)single nucleotide variantPathogenicrs121909120GRCh37Chr 18, 52896219: 52896219
56TCF4NM_001083962.1(TCF4): c.1739G> A (p.Arg580Gln)single nucleotide variantPathogenicrs121909121GRCh37Chr 18, 52896218: 52896218
57TCF4NM_001083962.1(TCF4): c.1153C> T (p.Arg385Ter)single nucleotide variantPathogenicrs121909122GRCh37Chr 18, 52921925: 52921925
58TCF4TCF4, IVS9AS, G-C, -1single nucleotide variantPathogenic
59TCF4NM_001083962.1(TCF4): c.1733G> C (p.Arg578Pro)single nucleotide variantPathogenicrs121909123GRCh37Chr 18, 52896224: 52896224
60TCF4TCF4, 1-BP DEL, 908CdeletionPathogenic
61TCF4NM_001083962.1(TCF4): c.1086G> A (p.Trp362Ter)single nucleotide variantPathogenicrs398123560GRCh37Chr 18, 52924606: 52924606
62TCF4NM_001083962.1(TCF4): c.1733G> A (p.Arg578His)single nucleotide variantPathogenicrs121909123GRCh37Chr 18, 52896224: 52896224
63TCF4NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs)deletionPathogenicrs398123561GRCh37Chr 18, 53017622: 53017625

Expression for genes affiliated with Pitt-Hopkins Syndrome

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

Pathways for genes affiliated with Pitt-Hopkins Syndrome

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1CNTNAP2, NRXN1

GO Terms for genes affiliated with Pitt-Hopkins Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1vocalization behaviorGO:00716259.5CNTNAP2, NRXN1
2vocal learningGO:00422979.5CNTNAP2, NRXN1
3adult behaviorGO:00305349.3CNTNAP2, NRXN1
4social behaviorGO:00351769.1CNTNAP2, NRXN1
5learningGO:00076128.8CNTNAP2, NRXN1

Sources for Pitt-Hopkins Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet