Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
PTHS
MCID: PTT014
MIFTS: 47

Pitt-Hopkins Syndrome (PTHS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Pitt-Hopkins Syndrome

About this section

Aliases & Descriptions for Pitt-Hopkins Syndrome:

Name: Pitt-Hopkins Syndrome 54 12 23 50 24 25 56 66 13 42 14 69
Pitt Hopkins Syndrome 50 24 29
Pths 25 66
Intellectual Disability, Wide Mouth, Distinctive Facial Features, and Intermittent Hyperventilation Followed by Apnea 50
Mental Retardation Syndromal with Intermittent Hyperventilation 66
Encephalopathy Severe Epileptic with Autonomic Dysfunction 66
Mesh; D006985 66
Mesh; D008607 66
Phs 25

Characteristics:

Orphanet epidemiological data:

56
pitt-hopkins syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
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: 34
Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 610954
Disease Ontology 12 DOID:0060488
MeSH 42 C537403
SNOMED-CT 64 702344008
Orphanet 56 ORPHA2896
UMLS via Orphanet 70 C1970431
ICD10 via Orphanet 34 Q87.0
MESH via Orphanet 43 C537403
MedGen 40 C1970431
UMLS 69 C1970431
Sources

Summaries for Pitt-Hopkins Syndrome

About this section
NIH Rare Diseases : 50 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, seizures and gait ataxia. An important gene associated with Pitt-Hopkins Syndrome is TCF4 (Transcription Factor 4), and among its related pathways/superpathways is Cell adhesion molecules (CAMs). Affiliated tissues include brain, eye and testes, and related phenotypes are behavior/neurological and nervous system

Disease Ontology : 12 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 : 54 The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and... (610954) more...

UniProtKB/Swiss-Prot : 66 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: NBK100240
Sources

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 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 cortical dysplasia-focal epilepsy syndrome 11.3
6 pitt-hopkins-like syndrome 2 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 pseudohypoparathyroidism ia 10.9
18 hypocalcemia, autosomal dominant 10.9
19 hypomagnesemia 1, intestinal 10.9
20 acid sphingomyelinase deficiency 10.8
21 pseudohypoparathyroidism ic 10.8
22 pseudohypoparathyroidism, type ii 10.8
23 hyperparathyroidism, familial primary 10.8
24 proximal renal tubular acidosis 10.7
25 leukemia, chronic myeloid, somatic 10.7
26 urinary system disease 10.7
27 bartter disease 10.7
28 hyperuricemia 10.7
29 renal tubular acidosis, distal 10.7
30 smith-lemli-opitz syndrome 10.7
31 gitelman syndrome 10.7
32 hypocalciuric hypercalcemia, type i 10.7
33 pseudopseudohypoparathyroidism 10.7
34 hypophosphatemic rickets, x-linked dominant 10.7
35 metaphyseal chondrodysplasia, murk jansen type 10.7
36 hypoparathyroidism-retardation-dysmorphism syndrome 10.7
37 leukemia 10.3
38 alzheimer disease 10.2
39 lung cancer 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 charcot-marie-tooth disease, type 1a 10.0
48 encephalopathy 10.0
49 non-syndromic intellectual disability 10.0
50 tooth disease 10.0

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



Diseases related to Pitt-Hopkins Syndrome
Sources

Symptoms & Phenotypes 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:

32 (show all 38)
id Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 seizures 32 HP:0001250
3 gait ataxia 32 HP:0002066
4 clubbing 32 HP:0001217
5 short neck 32 HP:0000470
6 clinodactyly 32 HP:0030084
7 muscular hypotonia 32 HP:0001252
8 dysautonomia 32 HP:0002459
9 coarse facial features 32 HP:0000280
10 widely spaced teeth 32 HP:0000687
11 wide nasal bridge 32 HP:0000431
12 pes planus 32 HP:0001763
13 microcephaly 32 HP:0000252
14 gastroesophageal reflux 32 HP:0002020
15 intellectual disability, severe 32 HP:0010864
16 full cheeks 32 HP:0000293
17 strabismus 32 HP:0000486
18 absent speech 32 HP:0001344
19 cryptorchidism 32 HP:0000028
20 intellectual disability, progressive 32 HP:0006887
21 myopia 32 HP:0000545
22 short philtrum 32 HP:0000322
23 deeply set eye 32 HP:0000490
24 narrow foot 32 HP:0001786
25 open mouth 32 HP:0000194
26 upslanted palpebral fissure 32 HP:0000582
27 aggressive behavior 32 HP:0000718
28 tapered finger 32 HP:0001182
29 motor delay 32 HP:0001270
30 astigmatism 32 HP:0000483
31 encephalopathy 32 HP:0001298
32 hypoplasia of the corpus callosum 32 HP:0002079
33 micropenis 32 HP:0000054
34 single transverse palmar crease 32 HP:0000954
35 cupped ear 32 HP:0000378
36 incoordination 32 HP:0002311
37 narrow forehead 32 HP:0000341
38 intermittent hyperventilation 32 HP:0004879

UMLS symptoms related to Pitt-Hopkins Syndrome:


constipation, seizures, nasal flaring, abnormal coordination

MGI Mouse Phenotypes related to Pitt-Hopkins Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 NRXN1 SLC9A6 CDKL5 CHD6 CNTNAP2
2 nervous system MP:0003631 9.1 CDKL5 CNTNAP2 LARP7 NRXN1 SLC9A6 TCF4
Sources

Drugs & Therapeutics for Pitt-Hopkins Syndrome

About this section

Search Clinical Trials , NIH Clinical Center for Pitt-Hopkins Syndrome

Cochrane evidence based reviews: pitt-hopkins syndrome

Sources

Genetic Tests for Pitt-Hopkins Syndrome

About this section

Genetic tests related to Pitt-Hopkins Syndrome:

id Genetic test Affiliating Genes
1 Pitt-Hopkins Syndrome 29 24 TCF4
Sources

Anatomical Context for Pitt-Hopkins Syndrome

About this section

MalaCards organs/tissues related to Pitt-Hopkins Syndrome:

39
Brain, Eye, Testes
Sources

Publications for Pitt-Hopkins Syndrome

About this section

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 )
2017
2
Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome. ( 28251008 )
2017
3
A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes. ( 27864810 )
2016
4
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. ( 27072915 )
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 )
2016
6
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. ( 27132474 )
2016
7
Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless. ( 26621827 )
2015
8
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge. ( 27617128 )
2015
9
Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome. ( 25900839 )
2015
10
Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism. ( 27625870 )
2014
11
A case of Pitt-Hopkins syndrome with absence of hyperventilation. ( 23248353 )
2013
12
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. ( 23640545 )
2013
13
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. ( 22335494 )
2013
14
263.4A kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. ( 23528641 )
2013
15
Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. ( 24383606 )
2013
16
Pitt-Hopkins Syndrome. ( 22670138 )
2012
17
Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. ( 22777675 )
2012
18
Acetazolamide for severe apnea in Pitt-Hopkins syndrome. ( 22407847 )
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 )
2012
20
Development, cognition, and behaviour in Pitt-Hopkins syndrome. ( 22712893 )
2012
21
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. ( 22378661 )
2012
22
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. ( 22678594 )
2012
23
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. ( 22378662 )
2012
24
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. ( 22887345 )
2012
25
Pitt-Hopkins Syndrome ( 28520343 )
2012
26
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. ( 22045651 )
2012
27
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. ( 21671391 )
2011
28
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. ( 22040220 )
2011
29
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. ( 21671383 )
2011
30
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. ( 21544580 )
2011
31
TCF4, schizophrenia, and Pitt-Hopkins Syndrome. ( 20421335 )
2010
32
Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. ( 20205897 )
2010
33
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. ( 19938247 )
2009
34
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. ( 19235238 )
2009
35
Hyperventilation and the Pitt-Hopkins syndrome. ( 18611190 )
2008
36
TCF4 deletions in Pitt-Hopkins Syndrome. ( 18781613 )
2008
37
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. ( 18728071 )
2008
38
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. ( 18627065 )
2008
39
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). ( 17436255 )
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 )
2007
41
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. ( 17478476 )
2007
42
Pitt-Hopkins syndrome in two patients and further definition of the phenotype. ( 16531728 )
2006
43
Possible case of Pitt-Hopkins syndrome in sibs. ( 11568923 )
2001
44
Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. ( 9475596 )
1998
45
Pitt-Hopkins Syndrome ( 22934316 )
1993
Sources

Variations for Pitt-Hopkins Syndrome

About this section

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

66 (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:

6 (show all 34)
id Gene Variation Type Significance SNP ID Assembly Location
1 TCF4 NM_001083962.1(TCF4): c.1738C> T (p.Arg580Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121909120 GRCh37 Chromosome 18, 52896219: 52896219
2 TCF4 NM_001083962.1(TCF4): c.1739G> A (p.Arg580Gln) single nucleotide variant Pathogenic rs121909121 GRCh37 Chromosome 18, 52896218: 52896218
3 TCF4 NM_001083962.1(TCF4): c.1153C> T (p.Arg385Ter) single nucleotide variant Pathogenic rs121909122 GRCh37 Chromosome 18, 52921925: 52921925
4 TCF4 TCF4, IVS9AS, G-C, -1 single nucleotide variant Pathogenic
5 TCF4 NM_001083962.1(TCF4): c.1733G> C (p.Arg578Pro) single nucleotide variant Pathogenic rs121909123 GRCh37 Chromosome 18, 52896224: 52896224
6 TCF4 TCF4, 1-BP DEL, 908C deletion Pathogenic
7 TCF4 NM_001083962.1(TCF4): c.1086G> A (p.Trp362Ter) single nucleotide variant Pathogenic rs398123560 GRCh37 Chromosome 18, 52924606: 52924606
8 TCF4 NM_001083962.1(TCF4): c.1733G> A (p.Arg578His) single nucleotide variant Pathogenic rs121909123 GRCh37 Chromosome 18, 52896224: 52896224
9 TCF4 NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs) deletion Pathogenic rs398123561 GRCh37 Chromosome 18, 53017622: 53017625
10 TCF4 NM_001083962.1(TCF4): c.1498G> T (p.Gly500Ter) single nucleotide variant Pathogenic rs587784459 GRCh37 Chromosome 18, 52899891: 52899891
11 TCF4 NM_001083962.1(TCF4): c.1840G> C (p.Ala614Pro) single nucleotide variant Likely pathogenic rs587784462 GRCh38 Chromosome 18, 55228886: 55228886
12 TCF4 NM_001083962.1(TCF4): c.1741G> T (p.Val581Phe) single nucleotide variant Likely pathogenic rs587784460 GRCh38 Chromosome 18, 55228985: 55228985
13 TCF4 NM_001083962.1(TCF4): c.1146+1G> A single nucleotide variant Pathogenic rs587784458 GRCh37 Chromosome 18, 52924545: 52924545
14 TCF4 NM_001083962.1(TCF4): c.991-2A> G single nucleotide variant Pathogenic rs587784470 GRCh37 Chromosome 18, 52927260: 52927260
15 TCF4 NM_001083962.1(TCF4): c.990G> A (p.Ser330=) single nucleotide variant Likely pathogenic rs587784469 GRCh37 Chromosome 18, 52928697: 52928697
16 TCF4 NM_001083962.1(TCF4): c.791delG (p.Ser264Thrfs) deletion Pathogenic rs587784468 GRCh37 Chromosome 18, 52937193: 52937193
17 TCF4 NM_001083962.1(TCF4): c.656-1G> C single nucleotide variant Pathogenic rs587784466 GRCh38 Chromosome 18, 55275753: 55275753
18 TCF4 NM_001083962.1(TCF4): c.655+1G> A single nucleotide variant Pathogenic rs587784465 GRCh38 Chromosome 18, 55279550: 55279550
19 TCF4 NM_001083962.1(TCF4): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs587784464 GRCh38 Chromosome 18, 55350904: 55350904
20 TCF4 NM_001083962.1(TCF4): c.415delC (p.Leu139Phefs) deletion Pathogenic rs587784463 GRCh38 Chromosome 18, 55350958: 55350958
21 TCF4 NM_001083962.1(TCF4): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs727504175 GRCh37 Chromosome 18, 52942891: 52942891
22 TCF4 NM_001083962.1(TCF4): c.1414delG (p.Val472Phefs) deletion Pathogenic rs727504174 GRCh37 Chromosome 18, 52901851: 52901851
23 TCF4 NM_001083962.1(TCF4): c.1357dupA (p.Thr453Asnfs) duplication Pathogenic rs786200992 GRCh37 Chromosome 18, 52901908: 52901908
24 TCF4 NM_001083962.1(TCF4): c.655+1G> T single nucleotide variant Pathogenic rs587784465 GRCh37 Chromosome 18, 52946781: 52946781
25 TCF4 NM_001083962.1(TCF4): c.1438C> T (p.Gln480Ter) single nucleotide variant Pathogenic rs727505396 GRCh38 Chromosome 18, 55234596: 55234596
26 TCF4 NM_001083962.1(TCF4): c.968C> T (p.Ala323Val) single nucleotide variant Pathogenic rs797045003 GRCh38 Chromosome 18, 55261488: 55261488
27 TCF4 NM_001083962.1(TCF4): c.1069+1G> T single nucleotide variant Pathogenic rs797045072 GRCh37 Chromosome 18, 52927179: 52927179
28 TCF4 NM_001083962.1(TCF4): c.1965dupC (p.Gly656Argfs) duplication Pathogenic/Likely pathogenic rs797046035 GRCh37 Chromosome 18, 52895507: 52895507
29 TCF4 NM_001083962.1(TCF4): c.1871A> C (p.Gln624Pro) single nucleotide variant Likely pathogenic rs797046034 GRCh37 Chromosome 18, 52896086: 52896086
30 TCF4 NM_001083962.1(TCF4): c.1411C> T (p.Gln471Ter) single nucleotide variant Pathogenic rs797046033 GRCh37 Chromosome 18, 52901854: 52901854
31 TCF4 NM_001083962.1(TCF4): c.655+2_655+3insGT insertion Pathogenic rs797046036 GRCh37 Chromosome 18, 52946779: 52946780
32 TCF4 NM_003199.2(TCF4): c.978delAinsGG (p.Ala327Glyfs) indel Pathogenic rs863223404 GRCh37 Chromosome 18, 52928709: 52928709
33 TCF4 NM_001083962.1(TCF4): c.550-2A> G single nucleotide variant Likely pathogenic rs863224934 GRCh38 Chromosome 18, 55279658: 55279658
34 TCF4 NM_001243234.1(TCF4): c.656dupT (p.Leu219Phefs) duplication Likely pathogenic rs1057519592 GRCh37 Chromosome 18, 52924556: 52924556

Copy number variations for Pitt-Hopkins Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 122008 18 51108121 51312629 Deletion TCF4 Pitt-Hopkins syndrome
Sources

Expression for Pitt-Hopkins Syndrome

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

Pathways for Pitt-Hopkins Syndrome

About this section

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

id Super pathways Score Top Affiliating Genes
1
Cell adhesion molecules (CAMs) 37
10.78 CNTNAP2 NRXN1
Sources

GO Terms for Pitt-Hopkins Syndrome

About this section

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 8.8 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 learning GO:0007612 9.32 CNTNAP2 NRXN1
2 social behavior GO:0035176 9.26 CNTNAP2 NRXN1
3 adult behavior GO:0030534 9.16 CNTNAP2 NRXN1
4 vocalization behavior GO:0071625 8.96 CNTNAP2 NRXN1
5 vocal learning GO:0042297 8.62 CNTNAP2 NRXN1
Sources

Sources for Pitt-Hopkins Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....