Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Pitt-Hopkins syndrome
go back to main search page
Accession:DOID:0060488 term browser browse the term
Definition:A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. (DO)
Synonyms:exact_synonym: PTHS;   severe epileptic encephalopathy, with autonomic dysfunction;   syndromal mental retardation, with intermittent hyperventilation
 related_synonym: Pitt-Hopkins-like syndrome
 primary_id: MESH:C537403
 alt_id: OMIM:610954
 xref: GARD:4372;   NCI:C129872;   ORDO:2896
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Pitt-Hopkins syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome
DNA:deletions: :
CTD
ClinVar
RGD
PMID:18414213 PMID:19896112 PMID:25741868 PMID:26467025 PMID:27747449 More... RGD:13450912 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome
CTD
ClinVar
PMID:19896112 PMID:28492532 NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Pitt-Hopkins syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610954
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:9536098 PMID:12032737 PMID:12848929 PMID:16199547 PMID:16531728 More... NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
JBrowse link
cortical dysplasia-focal epilepsy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1
ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome
ClinVar Annotator: match by term: PITT-HOPKINS-LIKE SYNDROME 1
OMIM
ClinVar
PMID:6564677 PMID:9536098 PMID:11568923 PMID:16199547 PMID:16571880 More... NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
JBrowse link
G Cul1 cullin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar PMID:16571880 PMID:22872700 PMID:28492532 NCBI chr 4:76,551,952...76,625,830
Ensembl chr 4:76,551,983...76,627,980
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar PMID:16571880 PMID:22872700 PMID:28492532 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Tpk1 thiamin pyrophosphokinase 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar PMID:27439707 NCBI chr 4:72,170,134...72,557,707
Ensembl chr 4:72,170,134...72,557,694
JBrowse link
Pitt-Hopkins-like syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662
JBrowse link
G Foxn2 forkhead box N2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,018,653...6,065,216
Ensembl chr 6:6,018,879...6,064,278
JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
JBrowse link
G Gtf2a1l general transcription factor 2A subunit 1 like ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,752,814...5,834,797
Ensembl chr 6:5,752,823...5,836,472
JBrowse link
G Kcnk12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,740,147...6,790,664
Ensembl chr 6:6,739,991...6,790,661
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar Annotator: match by OMIM:614325
OMIM
ClinVar
PMID:2504536 PMID:9536098 PMID:16199547 PMID:17034946 PMID:17576681 More... NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
JBrowse link
G Ppp1r21 protein phosphatase 1, regulatory subunit 21 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,901,518...5,970,684
Ensembl chr 6:5,901,518...5,970,684
JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,843,186...5,892,557
Ensembl chr 6:5,843,185...5,892,449
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      Pitt-Hopkins syndrome 16
        Pitt-Hopkins-like syndrome 2 11
        cortical dysplasia-focal epilepsy syndrome 4
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            disease of mental health 7119
              developmental disorder of mental health 4434
                specific developmental disorder 3680
                  intellectual disability 3492
                    Pitt-Hopkins syndrome 16
                      Pitt-Hopkins-like syndrome 2 11
                      cortical dysplasia-focal epilepsy syndrome 4
paths to the root