MCID: PTT014
MIFTS: 51

Pitt-Hopkins Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Pitt-Hopkins Syndrome

About this section

Aliases & Descriptions for Pitt-Hopkins Syndrome:

Name: Pitt-Hopkins Syndrome 51 11 23 47 24 25 53 69 12 38 13 67
Pitt Hopkins Syndrome 47 24 26
Pths 25 69
Intellectual Disability, Wide Mouth, Distinctive Facial Features, and Intermittent Hyperventilation Followed by Apnea 47
Mental Retardation Syndromal with Intermittent Hyperventilation 69
 
Encephalopathy Severe Epileptic with Autonomic Dysfunction 69
Pallister-Hall Syndrome 67
Mesh; D006985 69
Mesh; D008607 69
Phs 25

Characteristics:

Orphanet epidemiological data:

53
pitt-hopkins syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
pitt-hopkins syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 610954
Disease Ontology11 DOID:0060488
MeSH38 C537403
Orphanet53 ORPHA2896
SNOMED-CT61 702344008
UMLS via Orphanet68 C1970431
ICD10 via Orphanet30 Q87.0
MESH via Orphanet39 C537403
MedGen36 C1970431

Summaries for Pitt-Hopkins Syndrome

About this section
NIH Rare Diseases:47 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 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 are CDO in myogenesis and Endochondral Ossification. Affiliated tissues include brain, eye and skin, and related mouse phenotypes are taste/olfaction and behavior/neurological.

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

UniProtKB/Swiss-Prot:69 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

About this section

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 76)
idRelated DiseaseScoreTop Affiliating Genes
1pth-related familial isolated hypoparathyroidism11.8
2pseudohypoparathyroidism, type ib11.4
3hypoparathyroidism, familial isolated11.4
4pulmonary hypertension11.4
5pitt-hopkins-like syndrome 211.4
6cortical dysplasia-focal epilepsy syndrome11.4
7hyperparathyroidism11.2
8lactic acidosis11.2
9hypoparathyroidism11.1
10pseudohypoparathyroidism11.1
11renal osteodystrophy11.1
12metabolic acidosis11.0
13pallister-hall syndrome11.0
14hyperoxaluria, primary, type iii11.0
15h. pylori infection11.0
16hyperphenylalaninemia, bh4-deficient, d10.9
17hypocalcemia, autosomal dominant10.9
18pseudohypoparathyroidism ia10.9
19acid sphingomyelinase deficiency10.8
20hypomagnesemia 1, intestinal10.8
21pseudohypoparathyroidism ic10.8
22pseudohypoparathyroidism, type ii10.8
23smith-lemli-opitz syndrome10.7
24leukemia, chronic myeloid, somatic10.7
25bartter disease10.7
26urinary system disease10.7
27hyperuricemia10.7
28renal tubular acidosis, distal10.7
29proximal renal tubular acidosis10.7
30hyperparathyroidism, familial primary10.7
31hypoparathyroidism-retardation-dysmorphism syndrome10.7
32hypocalciuric hypercalcemia, type i10.7
33pseudopseudohypoparathyroidism10.7
34hypophosphatemic rickets, x-linked dominant10.7
35metaphyseal chondrodysplasia, murk jansen type10.7
36leukemia10.3
37lung cancer10.2
38alzheimer disease10.2
39osteoporosis10.2
40intellectual disability10.2
41pityriasis lichenoides10.1CNTNAP2, NRXN1
42gastroesophageal reflux10.1
43esophagitis10.1
44lymphoblastic leukemia10.0
45schizophrenia10.0
46charcot-marie-tooth disease, type 1a10.0
47charcot-marie-tooth disease10.0
48non-syndromic intellectual disability10.0
49tooth disease10.0
50neuronitis10.0

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



Diseases related to pitt-hopkins syndrome

Symptoms for Pitt-Hopkins Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

610954

Clinical features from OMIM:

610954

Human phenotypes related to Pitt-Hopkins Syndrome:

 63 (show all 49)
id Description HPO Frequency HPO Source Accession
1 wide mouth63 hallmark (90%) HP:0000154
2 abnormality of the teeth63 hallmark (90%) HP:0000164
3 abnormality of the palate63 hallmark (90%) HP:0000174
4 thick lower lip vermilion63 hallmark (90%) HP:0000179
5 microcephaly63 hallmark (90%) HP:0000252
6 thickened helices63 hallmark (90%) HP:0000391
7 anteverted nares63 hallmark (90%) HP:0000463
8 deeply set eye63 hallmark (90%) HP:0000490
9 muscular hypotonia63 hallmark (90%) HP:0001252
10 constipation63 hallmark (90%) HP:0002019
11 neurological speech impairment63 hallmark (90%) HP:0002167
12 incoordination63 hallmark (90%) HP:0002311
13 cognitive impairment63 hallmark (90%) HP:0100543
14 cryptorchidism63 typical (50%) HP:0000028
15 myopia63 typical (50%) HP:0000545
16 tapered finger63 typical (50%) HP:0001182
17 seizures63 typical (50%) HP:0001250
18 apnea63 typical (50%) HP:0002104
19 hypopigmented skin patches63 occasional (7.5%) HP:0001053
20 hypoplasia of penis63 occasional (7.5%) HP:0008736
21 micropenis63 HP:0000054
22 open mouth63 HP:0000194
23 coarse facial features63 HP:0000280
24 full cheeks63 HP:0000293
25 short philtrum63 HP:0000322
26 narrow forehead63 HP:0000341
27 cupped ear63 HP:0000378
28 wide nasal bridge63 HP:0000431
29 short neck63 HP:0000470
30 astigmatism63 HP:0000483
31 strabismus63 HP:0000486
32 upslanted palpebral fissure63 HP:0000582
33 widely spaced teeth63 HP:0000687
34 aggressive behavior63 HP:0000718
35 single transverse palmar crease63 HP:0000954
36 clubbing63 HP:0001217
37 motor delay63 HP:0001270
38 encephalopathy63 HP:0001298
39 absent speech63 HP:0001344
40 pes planus63 HP:0001763
41 narrow foot63 HP:0001786
42 gastroesophageal reflux63 HP:0002020
43 gait ataxia63 HP:0002066
44 hypoplasia of the corpus callosum63 HP:0002079
45 dysautonomia63 HP:0002459
46 intermittent hyperventilation63 HP:0004879
47 intellectual disability, progressive63 HP:0006887
48 intellectual disability, severe63 HP:0010864
49 clinodactyly63 HP:0030084

UMLS symptoms related to Pitt-Hopkins Syndrome:


constipation, seizures, nasal flaring, abnormal coordination

Drugs & Therapeutics for Pitt-Hopkins Syndrome

About this section

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

About this section

Genetic tests related to Pitt-Hopkins Syndrome:

id Genetic test Affiliating Genes
1 Pitt-Hopkins Syndrome26 24 TCF4

Anatomical Context for Pitt-Hopkins Syndrome

About this section

MalaCards organs/tissues related to Pitt-Hopkins Syndrome:

35
Brain, Eye, Skin, Testes

Animal Models for Pitt-Hopkins Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Pitt-Hopkins Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053948.3ASCL1, CDKL5, CNTNAP2, GLI3
2MP:00053867.7ASCL1, CDKL5, CHD6, CNTNAP2, MEF2C, NRXN1
3MP:00036316.8ASCL1, CDKL5, CNTNAP2, GLI3, LARP7, MEF2C

Publications for Pitt-Hopkins Syndrome

About this section

Articles related to Pitt-Hopkins Syndrome:

(show all 42)
idTitleAuthorsYear
1
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. (27072915)
2016
2
A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes. (27864810)
2016
3
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. (27132474)
2016
4
Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome. (28032012)
2016
5
Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless. (26621827)
2015
6
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge. (27617128)
2015
7
Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome. (25900839)
2015
8
Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism. (27625870)
2014
9
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. (23640545)
2013
10
263.4A kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. (23528641)
2013
11
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. (22335494)
2013
12
A case of Pitt-Hopkins syndrome with absence of hyperventilation. (23248353)
2013
13
Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. (24383606)
2013
14
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
15
Pitt-Hopkins Syndrome. (22670138)
2012
16
Development, cognition, and behaviour in Pitt-Hopkins syndrome. (22712893)
2012
17
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. (22045651)
2012
18
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. (22887345)
2012
19
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)
2012
20
Acetazolamide for severe apnea in Pitt-Hopkins syndrome. (22407847)
2012
21
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. (22378662)
2012
22
Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. (22777675)
2012
23
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. (22678594)
2012
24
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. (22040220)
2011
25
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. (21671383)
2011
26
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. (21671391)
2011
27
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. (21544580)
2011
28
TCF4, schizophrenia, and Pitt-Hopkins Syndrome. (20421335)
2010
29
Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. (20205897)
2010
30
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. (19235238)
2009
31
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. (19938247)
2009
32
TCF4 deletions in Pitt-Hopkins Syndrome. (18781613)
2008
33
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. (18728071)
2008
34
Hyperventilation and the Pitt-Hopkins syndrome. (18611190)
2008
35
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. (18627065)
2008
36
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (17436255)
2007
37
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. (17478476)
2007
38
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
39
Pitt-Hopkins syndrome in two patients and further definition of the phenotype. (16531728)
2006
40
Possible case of Pitt-Hopkins syndrome in sibs. (11568923)
2001
41
Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. (9475596)
1998
42
Pitt-Hopkins Syndrome (22934316)
1993

Variations for Pitt-Hopkins Syndrome

About this section

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

69 (show all 13)
id Symbol AA change Variation ID SNP ID
1TCF4p.Arg576GlnVAR_034704rs121909121
2TCF4p.Arg576TrpVAR_034705rs121909120
3TCF4p.Asp535GlyVAR_058632
4TCF4p.Arg572GlyVAR_058633
5TCF4p.Ala610ValVAR_058634
6TCF4p.Gly358ValVAR_066839
7TCF4p.Arg574ProVAR_066840rs121909123
8TCF4p.Arg578HisVAR_066841
9TCF4p.Arg565TrpVAR_066970
10TCF4p.Arg572GlnVAR_066971
11TCF4p.Arg574HisVAR_066972rs121909123
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)SNVPathogenicrs116840768GRCh37Chr 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> ASNVPathogenicrs587784458GRCh37Chr 18, 52924545: 52924545
7TCF4NM_001083962.1(TCF4): c.1498G> T (p.Gly500Ter)SNVPathogenicrs587784459GRCh37Chr 18, 52899891: 52899891
8TCF4NM_001083962.1(TCF4): c.1741G> T (p.Val581Phe)SNVLikely pathogenicrs587784460GRCh37Chr 18, 52896216: 52896216
9TCF4NM_001083962.1(TCF4): c.1840G> C (p.Ala614Pro)SNVLikely 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)SNVPathogenicrs587784464GRCh37Chr 18, 53018135: 53018135
12TCF4NM_001083962.1(TCF4): c.655+1G> ASNVPathogenicrs587784465GRCh37Chr 18, 52946781: 52946781
13TCF4NM_001083962.1(TCF4): c.656-1G> CSNVPathogenicrs587784466GRCh37Chr 18, 52942984: 52942984
14TCF4NM_001083962.1(TCF4): c.791delG (p.Ser264Thrfs)deletionPathogenicrs587784468GRCh37Chr 18, 52937193: 52937193
15TCF4NM_001083962.1(TCF4): c.990G> A (p.Ser330=)SNVLikely pathogenicrs587784469GRCh37Chr 18, 52928697: 52928697
16TCF4NM_001083962.1(TCF4): c.991-2A> GSNVPathogenicrs587784470GRCh37Chr 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)SNVPathogenicrs727504175GRCh37Chr 18, 52942891: 52942891
20TCF4NM_001083962.1(TCF4): c.655+1G> TSNVPathogenicrs587784465GRCh37Chr 18, 52946781: 52946781
21TCF4NM_001083962.1(TCF4): c.1438C> T (p.Gln480Ter)SNVPathogenicrs727505396GRCh38Chr 18, 55234596: 55234596
22TCF4NM_001083962.1(TCF4): c.968C> T (p.Ala323Val)SNVPathogenicrs797045003GRCh38Chr 18, 55261488: 55261488
23TCF4NM_001083962.1(TCF4): c.1069+1G> TSNVPathogenicrs797045072GRCh37Chr 18, 52927179: 52927179
24TCF4NM_001083962.1(TCF4): c.1411C> T (p.Gln471Ter)SNVPathogenicrs797046033GRCh37Chr 18, 52901854: 52901854
25TCF4NM_001083962.1(TCF4): c.1871A> C (p.Gln624Pro)SNVLikely pathogenicrs797046034GRCh37Chr 18, 52896086: 52896086
26TCF4NM_001083962.1(TCF4): c.1965dupC (p.Gly656Argfs)duplicationLikely pathogenic, Pathogenicrs797046035GRCh37Chr 18, 52895507: 52895507
27TCF4NM_001083962.1(TCF4): c.655+2_655+3insGTinsertionPathogenicrs797046036GRCh37Chr 18, 52946779: 52946780
28TCF4NM_003199.2(TCF4): c.978delAinsGG (p.Ala327Glyfs)indelPathogenicrs863223404GRCh37Chr 18, 52928709: 52928709
29TCF4NM_001083962.1(TCF4): c.550-2A> GSNVLikely pathogenicrs863224934GRCh38Chr 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)SNVPathogenicrs116840747GRCh37Chr 7, 42011977: 42011977
34GLI3NM_000168.5(GLI3): c.2110C> T (p.Gln704Ter)SNVPathogenicrs116840748GRCh38Chr 7, 41967917: 41967917
35GLI3NM_000168.5(GLI3): c.2139delC (p.Cys713Terfs)deletionPathogenicrs116840749GRCh38Chr 7, 41967888: 41967888
36GLI3NM_000168.5(GLI3): c.2146C> T (p.Gln716Ter)SNVPathogenicrs116840750GRCh37Chr 7, 42007479: 42007479
37GLI3NM_000168.5(GLI3): c.2149C> T (p.Gln717Ter)SNVPathogenicrs116840751GRCh37Chr 7, 42007476: 42007476
38GLI3NM_000168.5(GLI3): c.2157delC (p.Ile720Serfs)deletionPathogenicrs116840752GRCh38Chr 7, 41967870: 41967870
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)deletionPathogenicrs116840756GRCh38Chr 7, 41967671: 41967681
42GLI3NM_000168.5(GLI3): c.2351_2355delAACAA (p.Lys784Serfs)deletionPathogenicrs116840757GRCh37Chr 7, 42007270: 42007274
43GLI3NM_000168.5(GLI3): c.2431+1G> ASNVPathogenicrs116840758GRCh37Chr 7, 42007193: 42007193
44GLI3NM_000168.5(GLI3): c.2483delC (p.Pro828Argfs)deletionPathogenicrs116840759GRCh38Chr 7, 41966590: 41966590
45GLI3NM_000168.5(GLI3): c.2567C> A (p.Ser856Ter)SNVPathogenicrs116840760GRCh38Chr 7, 41966506: 41966506
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)SNVPathogenicrs116840763GRCh37Chr 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)SNVPathogenicrs116840766GRCh37Chr 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)SNVPathogenicrs116840769GRCh37Chr 7, 42005215: 42005215
54GLI3NM_000168.5(GLI3): c.3481C> T (p.Gln1161Ter)SNVPathogenicrs116840770GRCh37Chr 7, 42005190: 42005190
55TCF4NM_001083962.1(TCF4): c.1738C> T (p.Arg580Trp)SNVPathogenicrs121909120GRCh37Chr 18, 52896219: 52896219
56TCF4NM_001083962.1(TCF4): c.1739G> A (p.Arg580Gln)SNVPathogenicrs121909121GRCh37Chr 18, 52896218: 52896218
57TCF4NM_001083962.1(TCF4): c.1153C> T (p.Arg385Ter)SNVPathogenicrs121909122GRCh37Chr 18, 52921925: 52921925
58TCF4TCF4, IVS9AS, G-C, -1SNVPathogenicChr na, -1: -1
59TCF4NM_001083962.1(TCF4): c.1733G> C (p.Arg578Pro)SNVPathogenicrs121909123GRCh37Chr 18, 52896224: 52896224
60TCF4TCF4, 1-BP DEL, 908CdeletionPathogenicChr na, -1: -1
61TCF4NM_001083962.1(TCF4): c.1086G> A (p.Trp362Ter)SNVPathogenicrs398123560GRCh37Chr 18, 52924606: 52924606
62TCF4NM_001083962.1(TCF4): c.1733G> A (p.Arg578His)SNVPathogenicrs121909123GRCh37Chr 18, 52896224: 52896224
63TCF4NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs)deletionPathogenicrs398123561GRCh37Chr 18, 53017622: 53017625

Copy number variations for Pitt-Hopkins Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1122008185110812151312629DeletionTCF4Pitt-Hopkins syndrome

Expression for genes affiliated with Pitt-Hopkins Syndrome

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

Pathways for genes affiliated with Pitt-Hopkins Syndrome

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7MEF2C, TCF4
29.6GLI3, MEF2C

GO Terms for genes affiliated with Pitt-Hopkins Syndrome

About this section

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1vocal learningGO:004229710.2CNTNAP2, NRXN1
2melanocyte differentiationGO:003031810.1GLI3, MEF2C
3vocalization behaviorGO:007162510.0CNTNAP2, NRXN1
4positive regulation of osteoblast differentiationGO:004566910.0GLI3, MEF2C
5embryonic skeletal system morphogenesisGO:004870410.0GLI3, MEF2C
6neuron fate commitmentGO:00486639.9ASCL1, GLI3
7social behaviorGO:00351769.8CNTNAP2, NRXN1
8oligodendrocyte differentiationGO:00487099.7ASCL1, GLI3
9cerebral cortex developmentGO:00219879.7ASCL1, CNTNAP2
10pattern specification processGO:00073899.7ASCL1, GLI3
11adult behaviorGO:00305349.7CNTNAP2, NRXN1
12negative regulation of neuron differentiationGO:00456659.6ASCL1, GLI3
13learningGO:00076129.5CNTNAP2, NRXN1
14neuron developmentGO:00486669.1ASCL1, MEF2C
15positive regulation of neuron differentiationGO:00456668.9ASCL1, MEF2C, TCF4
16neuron migrationGO:00017648.7ASCL1, CDKL5, MEF2C

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

idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:00434259.9ASCL1, TCF4
2E-box bindingGO:00708889.8ASCL1, TCF4
3transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.6GLI3, MEF2C, TCF4
4RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009788.5ASCL1, GLI3, MEF2C, TCF4
5chromatin bindingGO:00036828.5ASCL1, GLI3, MEF2C, TCF4

Sources for Pitt-Hopkins Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet