Pitt-hopkins Syndrome malady

NIH Rare Diseases: 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.³⁰

MalaCards: Pitt-hopkins Syndrome, also known as pitt hopkins syndrome, is related to acute lymphoblastic leukemia and lymphoblastic leukemia. An important gene associated with Pitt-hopkins Syndrome is TCF4 (transcription factor 4), and among its related pathways are Factors Promoting Cardiogenesis in Vertebrates and Cell adhesion molecules (CAMs). The drugs buspirone hydrochloride and buspirone and the compound mononucleotide have been mentioned in the context of this disorder. Related mouse phenotype behavior/neurological.

Genetics Home Reference: 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.¹⁷

OMIM: 610954

GeneReviews summary for pitt-hopkins

pitt-hopkins syndrome 15 30 17 33 43 pitt hopkins syndrome 30 16 mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea 30 pallister-hall syndrome 43

mental retardation 43 encephalopathies 43 pths 17 phs 17

Diseases related to pitt-hopkins syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 1140)

id	Related Disease	Score	Top Affiliating Genes
1	acute lymphoblastic leukemia	29.5	CNTNAP2, NRXN1, TCF7L2
2	lymphoblastic leukemia	29.0	CNTNAP2, NRXN1, TCF7L2
3	schizophrenia	28.2	TCF7L2, TCF4, NRXN1, CNTNAP2
4	bipolar disorder	27.4	CNTNAP2, NRXN1, TCF4
5	autistic disorder	12.4	CNTNAP2, NRXN1
6	familial adenomatous polyposis	12.2	TCF4, TCF7L2
7	adenomatous polyposis coli	12.1	TCF7L2, TCF4
8	mental retardation syndrome	10.4
9	hepatic encephalopathy	10.3
10	leukemia	10.1
11	microcephaly	9.4
12	muscular dystrophy	9.3
13	fragile x syndrome	9.2
14	wagr syndrome	9.2
15	renpenning syndrome 1	9.1
16	ethylmalonic encephalopathy	8.9
17	congenital muscular dystrophy	8.8
18	hypercalcemia	8.8
19	mental retardation epilepsy	8.7
20	glycine encephalopathy	8.7
21	hyperparathyroidism	8.7
22	alpha-thalassemia/mental retardation syndrome	8.6
23	mental retardation, x-linked, nonspecific	8.6
24	x-linked mental retardation 9	8.6
25	mitochondrial neurogastrointestinal encephalopathy disease	8.6
26	x-linked mental retardation with epilepsy	8.5
27	bovine spongiform encephalopathy	8.5
28	hypothalamic hamartomas	8.5
29	chondrodysplasia	8.4
30	primary hyperparathyroidism	8.4
31	x inactivation	8.4
32	alpha thalassemia	8.4
33	short stature	8.4
34	x-linked mental retardation 58	8.4
35	x-linked mental retardation 63	8.4
36	x-linked mental retardation 89	8.4
37	metaphyseal chondrodysplasia	8.4
38	prion disease	8.3
39	myeloid leukemia	8.3
40	lubs x-linked mental retardation syndrome	8.3
41	mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance	8.3
42	x-linked mental retardation 30	8.3
43	x-linked mental retardation 54	8.3
44	chronic myeloid leukemia	8.2
45	jansen's metaphyseal chondrodysplasia	8.2
46	pseudohypoparathyroidism	8.2
47	familial encephalopathy with neuroserpin inclusion bodies	8.2
48	coffin-lowry syndrome	8.1
49	mental retardation, x-linked	8.1
50	mowat-wilson syndrome	8.1

Clinical features from OMIM: 610954

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 buspirone, buspirone hydrochloride

Genetic tests related to pitt-hopkins syndrome:

id	Genetic test	Affiliating Genes
1	Pitt-hopkins Syndrome clinical/research	TCF4

MGI Mouse Phenotypes related to pitt-hopkins syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological phenotype	MP:0005386	8.0	CNTNAP2, CHD6, NRXN1, TCF7L2

Articles related to pitt-hopkins syndrome:

(show all 11)

id	Title	Authors	Year	Affiliating Genes
1	Novel comprehensive diagnostic strategy in pitt-hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum. (22045651)	Whalen S.... Giurgea I.	2011	TCF4
2	TCF4, schizophrenia, and Pitt-Hopkins Syndrome. (20421335)	Blake D.J.... Owen M.J.	2010	CNTNAP2, NRXN1, TCF4
3	Pitt-Hopkins syndrome: report of a case with a TCF4 g ene mutation. (20205897)	Taddeucci G.... Tarantino E.	2010	TCF4
4	Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. (19235238)	de Pontual L.... Amiel J.	2009	TCF4
5	Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations . (19938247)	Rosenfeld J.A.... Shaffer L.G.	2009	TCF4
6	TCF4 deletions in Pitt-Hopkins Syndrome. (18781613)	Giurgea I.... Moncla A.	2008	TCF7L2
7	Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. (18728071)	Zweier C.... Rauch A.	2008	TCF4
8	Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. (18627065)	Kalscheuer V.M.... Ropers H.H.	2008	TCF4, CHD6
9	Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (17436255)	Zweier C.... Rauch A.	2007	TCF4
10	Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. (17478476)	Brockschmidt A.... Weber R.G.	2007	TCF4
11	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)	Amiel J.... Colleaux L.	2007	TCF4

Genes related to pitt-hopkins syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TCF4	transcription factor 4	11.1	Summaries, Publications
2	CHD6	chromodomain helicase DNA binding protein 6	11.0	Publications
3	TCF7L2	transcription factor 7-like 2 (T-cell specific, HMG-box)	11.0	Publications
4	NRXN1	neurexin 1	11.0	Publications
5	CNTNAP2	contactin associated protein-like 2	11.0	Publications

Pathways related to pitt-hopkins syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Factors Promoting Cardiogenesis in Vertebrates36	9.3	TCF4, TCF7L2
2	Cell adhesion molecules (CAMs)20	9.1	CNTNAP2, NRXN1
3	Human Embryonic Stem Cell Pluripotency36	9.1	TCF4, TCF7L2

Compounds related to pitt-hopkins syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	mononucleotide32	9.4	TCF4, TCF7L2

Biological processes related to pitt-hopkins syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	vocalization behavior	GO:071625	9.1	CNTNAP2, NRXN1