Pitt-Hopkins Syndrome (PHS) malady

NIH Rare Diseases:⁴² 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 leukemia and hyperparathyroidism, 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 WNT Signaling and Wnt Signaling Pathway. The compounds glycogen and mononucleotide have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and skin, and related mouse phenotypes are nervous system and behavior/neurological.

Genetics Home Reference:²² 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.

OMIM:⁴⁶ The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and... (610954) more...

GeneReviews summary for pitt-hopkins

External Ids:

OMIM46 610954 MESH via Orphanet35 C537403

ICD10 via Orphanet27 Q87.0 UMLS via Orphanet62 C1970431

Symptoms by clinical synopsis from OMIM:

610954

Clinical features from OMIM:

610954

Symptoms:

 ⁴⁸ (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 57)

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	absent speech		HP:0001344
47	pes planus		HP:0001763
48	narrow foot		HP:0001786
49	constipation		HP:0002019
50	gastroesophageal reflux		HP:0002020
51	gait ataxia		HP:0002066
52	hypoplasia of the corpus callosum		HP:0002079
53	incoordination		HP:0002311
54	hyperventilation		HP:0002883
55	intellectual disability, progressive		HP:0006887
56	intellectual disability, severe		HP:0010864
57	clinodactyly		HP:0030084

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